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Gene ENSMUSG00000029661 (Col1a2)
Chromosomal location
Chr 6: 4455697 - 4491543 (+)
Description
collagen, type I, alpha 2 Gene [Source:MGI (curated);Acc:Col1a2-001]
RefSeq_dna
NM_007743 
RefSeq_peptide
NP_031769.2 
UniGene
Mm.277792 Mm.469313 
MGI
MGI:88468 
Uniprot/SWISSPROT
Q01149 
Uniprot/SPTREMBL
Q3TP88 Q3TU64 Q3TUE2 Q3TX57 Q7TN67 Q91VL4 
Human Ortholog
ENSG00000164692 (COL1A2)
Omim 130060 - EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT  166200 - OSTEOGENESIS IMPERFECTA, TYPE I  166210 - OSTEOGENESIS IMPERFECTA, TYPE IIA  166220 - OSTEOGENESIS IMPERFECTA, TYPE IV  225320 - EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM  259420 - OSTEOGENESIS IMPERFECTA, TYPE III  
UniTrap UNI37740
Vector Insertion
Chr 6: 4458955 - 4459603
Public Clones (ggtc)
Private Clones not available
Severity of mutation (?) Insertion after 2% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI10970
Vector Insertion
Chr 6: 4481011 - 4481103
Public Clones P138A03 (ggtc)
Private Clones not available
Severity of mutation (?) Insertion after 52% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

Show all transcripts and translations:
Transcript ENSMUST00000031668
Sequence
ATTTTAGCACCACGGCAGCAGGAGGTTTCGACTAAGTTGGAGGGAACGGTCCACGATTGCATGCCTGCGCCCGCCAGGTGATACCTCCGCTGGTGACCCA

GGGGCTCTGCAACACAAGGAGTCTGCATGTCTAAGTGGTAGACATGCTCAGCTTTGTGGATACGCGGACTCTGTTGCTGCTTGCAGTAACTTCGTGCCTA

GCAACATGCCAAT ATTTGCAATCG GGATCAGTACGAAAG GGCCCCACTGGAGACAGAGGACCACGTGGACAAAGG GGTCCCGCAGGTCCCCGAGGC

AGAGATGGTGTTGATGGTCCCATGGGCCCTCCTGGTCCCCCTGGCTCCCCTGGTCCTCCCGGCTCCCCTGCCCCCCCTGGTCTTACTGGG AACTTTGCT

GCTCAGTATTCTGACAAAGGAGTTTCATCTGGCCCTGGACCAATG GGTTTAATGGGACCCAGAGGCCCTCCTGGTGCTGTTGGAGCCCCT GGCCCTCA

AGGTTTCCAAGGACCTGCTGGTGAACCTGGTGAGCCTGGTCAAACG GGTCCTGCAGGTCCCCGTGGTCCAGCTGGCTCTCCTGGCAAGGCTGGTGAGGA

T GGTCACCCTGGAAAACCCGGAAGACCTGGGGAGAGAGGAGTCGTTGGACCACAG GGTGCTCGTGGTTTCCCCGGGACTCCTGGACTTCCTGGCTTCA

AAGGCGTGAAA GGACACAGTGGTATGGATGGATTAAAGGGACAGCCTGGTGCACAGGGTGTGAAG GGTGAACCCGGTGCCCCTGGAGAGAATGGAACT

CCAGGTCAAGCA GGAGCCCGAGGGCTTCCTGGTGAGAGAGGGCGTGTCGGAGCTCCTGGTCCAGCT GGTGCCCGAGGCAGTGATGGAAGCGTTGGCCC

CGTCGGCCCTGCT GGTCCCATTGGGTCTGCTGGACCCCCTGGTTTCCCAGGTGCTCCTGGTCCCAAG GGTGAACTTGGGCCCGTTGGTAACCCTGGCC

CTGCTGGTCCTGCTGGTCCCCGTGGTGAAGTGGGTCTTCCAGGTCTTTCTGGCCCTGTTGGACCTCCT GGCAACCCTGGAACAAATGGGCTCACTGGCG

CCAAGGGTGCTACT GGACTCCCTGGTGTCGCTGGGGCTCCCGGTCTCCCTGGCCCCCGTGGTATTCCTGGCCCCGCTGGTGCTGCTGGTGCTACAGGTG

CCAGAGGACTTGTT GGTGAGCCTGGTCCTGCTGGCTCCAAAGGAGAATCCGGTAACAAGGGTGAGCCT GGCTCTGTTGGAGCCCAAGGTCCTCCTGGT

CCCAGCGGTGAAGAAGGAAAGAGAGGGTCTCCCGGAGAAGCTGGATCTGCTGGCCCTGCAGGGCCTCCAGGGCTTAGA GGCAGCCCTGGTTCTCGAGGT

CTTCCTGGAGCTGATGGCAGAGCTGGTGTAATG GGTCCTCCTGGCAATCGTGGTTCAACCGGCCCTGCTGGAATCCGAGGTCCTAATGGAGATGCCGGT

CGACCTGGGGAACCTGGTCTCATGGGACCCAGA GGTCTTCCTGGGTCTCCTGGAAATGTTGGCCCATCTGGTAAAGAAGGCCCTGTG GGTCTCCCTGG

CATTGATGGCAGACCTGGCCCAATCGGCCCAGCTGGACCAAGAGGTGAAGCTGGCAACATCGGATTCCCTGGACCCAAAGGCCCCTCT GGTGATCCTGG

CAAACCTGGTGAGAGAGGACACCCCGGTCTTGCTGGTGCTCGG GGAGCTCCAGGACCCGATGGCAACAATGGAGCTCAGGGCCCCCCTGGACCCCAG G

GTGTTCAAGGTGGCAAAGGTGAACAAGGCCCTGCTGGTCCTCCTGGCTTCCAG GGTCTCCCTGGTCCCTCAGGTACTACTGGAGAAGTTGGCAAGCCCG

GAGAAAGG GGTCTTCCTGGTGAATTCGGTCTCCCTGGTCCTGCTGGTCCAAGA GGAGAACGTGGTACCCCGGGTGAGAGTGGAGCTGCTGGCCCTTCT

GGTCCTATTGGAAGCCGAGGTCCCAGTGGAGCCCCAGGGCCTGATGGAAACAAG GGTGAAGCTGGTGCAGTCGGTGCTCCAGGCAGTGCTGGTGCCTCT

GGGCCTGGTGGGCTTCCAGGAGAGAGGGGTGCTGCTGGCATACCTGGGGGCAAAGGAGAAAAG GGTGAAACTGGTCTCCGAGGTGACACTGGCAACACT

GGTAGAGATGGTGCTCGT GGCATTCCTGGTGCTGTAGGTGCCCCTGGTCCTGCTGGGGCCTCAGGTGACCGG GGTGAAGCTGGTGCTGCCGGTCCTTC

TGGCCCAGCTGGTCCTCGGGGTAGCCCT - UNI10970 - GGTGAACGTGGTGAAGTTGGCCCTGCTGGCCCCAATGGATTTGCTGGTCCTGCT GGT

GCTGCTGGCCAACCCGGTGCTAAAGGAGAGAAGGGAACCAAAGGGCCTAAGGGTGAAAATGGCATTGTTGGTCCAACCGGGTCTGTTGGAGCTGCTGGCC

CATCT GGTCCTAATGGCCCACCTGGTCCTGTTGGAAGTCGTGGTGATGGAGGGCCCCCT GGTATGACTGGCTTCCCTGGTGCTGCTGGACGGACTGGT

CCCCCCGGACCCAGT GGTATTGCTGGCCCCCCTGGCCCCCCTGGTGCTGCTGGAAAGGAAGGGATTCGTGGTCCCCGTGGCGACCAAGGTCCAGTTGGC

CGAACTGGAGAAACAGGTGCATCTGGACCCCCTGGATTTGTTGGTGAAAAGGGTCCCTCTGGAGAACCTGGTACCGCA GGAGCCCCTGGTACCGCAGGT

CCTCAGGGTCTTCTTGGTGCTCCCGGTATTCTGGGTCTCCCTGGCTCTAGAGGTGAACGTGGTCTGCCAGGTATTGCTGGTGCTCTG GGTGAACCTGGT

CCTCTGGGCATCTCAGGCCCTCCTGGTGCCCGTGGTCCCCCTGGTGCTGTGGGCAGCCCTGGAGTTAATGGTGCCCCTGGTGAAGCTGGTCGTGAT GGT

AACCCTGGCAGCGATGGTCCCCCAGGTCGTGATGGTCAGCCTGGACACAAG GGAGAGCGTGGTTACCCTGGCAGCATTGGTCCGACTGGTGCTGCAGGT

GCCCCTGGTCCTCACGGTTCTGTGGGTCCTGCTGGGAAACATGGAAACCGAGGTGAACCT GGTCCTGCCGGTTCTGTTGGTCCTGTTGGTGCTGTTGGT

CCAAGAGGTCCTAGT GGTCCTCAAGGCATCCGAGGTGACAAAGGAGAACCTGGTGATAAAGGGCACAGGGGTCTTCCTGGCTTAAAAGGATACAGTGGA

TTGCAGGGTCTTCCTGGTCTTGCT GGCCTACATGGTGACCAAGGAGCTCCTGGTCCTGTGGGTCCTGCTGGTCCCAGG GGTCCTGCTGGGCCTTCTGG

ACCCGTTGGCAAAGATGGTAGATCTGGGCAACCTGGCCCAGTCGGGCCTGCTGGTGTTCGTGGTTCTCAGGGTAGCCAAGGTCCCGCT GGTCCCCCTGG

TCCCCCTGGACCTCCTGGTCCTCCTGGTGTCAGCGGAGGTGGCTATGACTTTGGTTTTGAAGGAGACTTCTACAGGGCTGACCAGCCTCGCTCCCAGCCT

TCACTCAGACCCAAGGACTATGAAGTTGATGCAACTCTGAAATCTCTCAATAACCAGATTGAGACCCTTCTCACTCCTGAAGGCTCTAGAAAGAACCCTG

CTCGCACGTGCCGGGACTTAAGACTCAGCCACCCAGAGTGGAACAGCG ATTACTACTGGATTGACCCTAACCAAGGATGTACTATGGATGCCATCAAAG

TGTACTGTGATTTCTCTACTGGTGAAACCTGCATCCAGGCCCAACCTGTAAACACCCCAGCGAAGAACTCATACAGCCGCGCCCAGGCCAACAAGCATGT

CTGGTTAGGAGAGACTATCAATGGTGGCAGCCAG TTTGAATACAACGTAGAAGGGGTGTCCTCCAAGGAAATGGCAACTCAGCTCGCCTTCATGCGCCT

GCTAGCCAACCGTGCTTCTCAGAACATCACCTACCACTGCAAGAACAGCATTGCGTACCTGGATGAGGAGACGGGCAGCTTGAACAAGGCTGTGCTTCTG

CAGGGTTCCAACGATGTTGAACTTGTTGCTGAGGGCAACAGCAGGTTCACCTACTCTGTCCTAGTCGATGGCTGCTCC AAAAAGACAAATGAATGGGGC

AAGACAATCATTGAATACAAAACAAATAAGCCATCTCGCCTGCCGTTCCTTGACATTGCACCTCTGGACATTGGTGGTGCTGACCAAGAATTCCGTGTGG

AGGTTGGCCCCGTCTGTTTCAAATAAGTGAACTCAACCTAAATTAAAAACCAAAAACCCCTGAAAAAACTTTCTCTTTGCCGTTTCCTCCTTTAAAAAAA

AAAACAAAAAACAAAAACTGAAAGCTGAATCCTTCCATGTCTTCTATGCATCTACATCTTAAACTGTGGGCAAAAGAGAAGGATTGGTCAGAGCAGTGTG

CAATATGATCCAACTAAGTCTCCTCCCTTGGCCCCTCCCCAAAATGTTTGCAGTGTTATTTTTGTGGGTTTTTTTTTAACACCCTGACACCTGTTGTGGA

CATTGTCAACCTTTGTAAGAAAACCCAAATAAAAATTGAAAAATAAAATAAAAAGAAACCCATGAACATTCGCACCACTTGTGGCTTCTGACTATCTTCC

ACAGAGGGAAGTTTAAAACCCAAACTTCCAAAGGTTTGAACTACCTCAAGACACTTTGCAGTGAGTGTAGACCATCCCAATGAGAGTTGACCAAGGCTGA

CACGAACTGAGGTACTTGTTTTGTTTTGCTTGCAACACAAAGGTGCTAATTAGTAGTATTTCAGATACTTGAAGAATATGAACGGTGCTGGAAGAATTAC

AGAAGAAACAATCCTCCACATTGATGTGCATTGTGTGTGATTTTTAAATTTGACTTAGCAGTCCTCTTTCTCATCTTATCCCCAACTACAGGAATGCAGG

CCACTTGCCCCAGGTTCTCTCTTCATTAGATTCAGCATTCATTCTTTAACAGCCTCATTTTCCTTCTTGCCCATGGTTCCAAAGAAGTCTTGTTTCTTGG

ACAAGCAGAAAAATTGAATTGTACCTATTTTGTATATGTGAGATGTTTAAATAAATTGTGAAAAATAAAATAAAGCATTTTTGGTTTTCCAAAAGAAAAT

ATTGAGT
Translation
MLSFVDTRTLLLLAVTSCLATCQY YLQS GSVRK GPTGDRGPRGQR GPAGPRGRDGVDGPMGPPGPPGSPGPPGSPAPPGLTG NFAAQYSDKGVSS

GPGPM GLMGPRGPPGAVGAP GPQGFQGPAGEPGEPGQT GPAGPRGPAGSPGKAGED GHPGKPGRPGERGVVGPQ GARGFPGTPGLPGFKGVK GH

SGMDGLKGQPGAQGVK GEPGAPGENGTPGQA GARGLPGERGRVGAPGPA GARGSDGSVGPVGPA GPIGSAGPPGFPGAPGPK GELGPVGNPGPAG

PAGPRGEVGLPGLSGPVGPP GNPGTNGLTGAKGAT GLPGVAGAPGLPGPRGIPGPAGAAGATGARGLV GEPGPAGSKGESGNKGEP GSVGAQGPPG

PSGEEGKRGSPGEAGSAGPAGPPGLR GSPGSRGLPGADGRAGVM GPPGNRGSTGPAGIRGPNGDAGRPGEPGLMGPR GLPGSPGNVGPSGKEGPV G

LPGIDGRPGPIGPAGPRGEAGNIGFPGPKGPS GDPGKPGERGHPGLAGAR GAPGPDGNNGAQGPPGPQ GVQGGKGEQGPAGPPGFQ GLPGPSGTTG

EVGKPGER GLPGEFGLPGPAGPR GERGTPGESGAAGPSGPIGSRGPSGAPGPDGNK GEAGAVGAPGSAGASGPGGLPGERGAAGIPGGKGEK GETG

LRGDTGNTGRDGAR GIPGAVGAPGPAGASGDR GEAGAAGPSGPAGPRGSP - UNI10970 - GERGEVGPAGPNGFAGPA GAAGQPGAKGEKGTK

GPKGENGIVGPTGSVGAAGPS GPNGPPGPVGSRGDGGPP GMTGFPGAAGRTGPPGPS GIAGPPGPPGAAGKEGIRGPRGDQGPVGRTGETGASGPPG

FVGEKGPSGEPGTA GAPGTAGPQGLLGAPGILGLPGSRGERGLPGIAGAL GEPGPLGISGPPGARGPPGAVGSPGVNGAPGEAGRD GNPGSDGPPGR

DGQPGHK GERGYPGSIGPTGAAGAPGPHGSVGPAGKHGNRGEP GPAGSVGPVGAVGPRGPS GPQGIRGDKGEPGDKGHRGLPGLKGYSGLQGLPGLA

 GLHGDQGAPGPVGPAGPR GPAGPSGPVGKDGRSGQPGPVGPAGVRGSQGSQGPA GPPGPPGPPGPPGVSGGGYDFGFEGDFYRADQPRSQPSLRPKD

YEVDATLKSLNNQIETLLTPEGSRKNPARTCRDLRLSHPEWNSD DYYWIDPNQGCTMDAIKVYCDFSTGETCIQAQPVNTPAKNSYSRAQANKHVWLGE

TINGGSQ FEYNVEGVSSKEMATQLAFMRLLANRASQNITYHCKNSIAYLDEETGSLNKAVLLQGSNDVELVAEGNSRFTYSVLVDGCS KKTNEWGKTI

IEYKTNKPSRLPFLDIAPLDIGGADQEFRVEVGPVCFK

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