Incidental Mutation 'R6481:Col1a2'
ID 517092
Institutional Source Beutler Lab
Gene Symbol Col1a2
Ensembl Gene ENSMUSG00000029661
Gene Name collagen, type I, alpha 2
Synonyms Col1a-2, Cola-2, Cola2
MMRRC Submission 044613-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6481 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 4505618-4541543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4538680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1200 (Y1200C)
Ref Sequence ENSEMBL: ENSMUSP00000031668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031668]
AlphaFold Q01149
Predicted Effect unknown
Transcript: ENSMUST00000031668
AA Change: Y1200C
SMART Domains Protein: ENSMUSP00000031668
Gene: ENSMUSG00000029661
AA Change: Y1200C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Collagen 30 91 1e-8 PFAM
Pfam:Collagen 88 155 8.2e-10 PFAM
internal_repeat_3 172 223 7.52e-12 PROSPERO
low complexity region 225 271 N/A INTRINSIC
low complexity region 274 313 N/A INTRINSIC
low complexity region 316 352 N/A INTRINSIC
internal_repeat_2 354 386 2.06e-15 PROSPERO
internal_repeat_1 355 469 5.71e-17 PROSPERO
internal_repeat_4 361 472 2.1e-11 PROSPERO
Pfam:Collagen 475 535 7.7e-11 PFAM
Pfam:Collagen 521 588 8.2e-10 PFAM
low complexity region 598 625 N/A INTRINSIC
low complexity region 628 655 N/A INTRINSIC
low complexity region 679 722 N/A INTRINSIC
low complexity region 724 757 N/A INTRINSIC
low complexity region 759 784 N/A INTRINSIC
low complexity region 792 820 N/A INTRINSIC
internal_repeat_5 823 850 5.93e-7 PROSPERO
low complexity region 853 883 N/A INTRINSIC
Pfam:Collagen 895 969 1e-8 PFAM
low complexity region 987 1007 N/A INTRINSIC
internal_repeat_5 1009 1042 5.93e-7 PROSPERO
Pfam:Collagen 1051 1120 5.8e-9 PFAM
COLFI 1138 1372 2.1e-150 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203346
Meta Mutation Damage Score 0.7463 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (82/82)
MGI Phenotype FUNCTION: This gene encodes the alpha-2 subunit of the fibril-forming type I collagen, the most abundant protein of bone, skin and tendon extracellular matrices. The encoded protein, in association with alpha-1 subunit, forms heterotrimeric type I procollagen that undergoes proteolytic processing during fibril formation. Mice harboring certain mutations in the encoded gene exhibit symptoms of moderate to severe forms of osteogenesis imperfecta. [provided by RefSeq, Dec 2015]
PHENOTYPE: The tails of mice heterozygous for an ENU-induced mutation at this locus are flexible or rubbery. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931428L18Rik T C 1: 31,261,588 (GRCm39) probably benign Het
Aadacl2fm3 T C 3: 59,768,478 (GRCm39) Y3H probably benign Het
Abca9 G A 11: 110,056,788 (GRCm39) Q11* probably null Het
Abcc9 A T 6: 142,550,621 (GRCm39) M1273K probably damaging Het
Abi2 A G 1: 60,478,098 (GRCm39) probably null Het
Acsm5 A G 7: 119,134,104 (GRCm39) E295G probably benign Het
Anapc5 T C 5: 122,938,607 (GRCm39) D389G probably benign Het
Ano3 A T 2: 110,625,372 (GRCm39) D159E probably benign Het
Arhgap26 T A 18: 39,283,110 (GRCm39) M349K probably damaging Het
Arhgef39 A G 4: 43,498,580 (GRCm39) probably null Het
Astn1 T C 1: 158,440,032 (GRCm39) S867P probably benign Het
Atad3a A T 4: 155,838,098 (GRCm39) probably null Het
Cadm1 A T 9: 47,699,407 (GRCm39) D91V probably damaging Het
Cc2d2b T C 19: 40,790,839 (GRCm39) I933T possibly damaging Het
Cdcp3 A T 7: 130,858,530 (GRCm39) D1066V probably benign Het
Celsr3 C G 9: 108,714,283 (GRCm39) N1937K possibly damaging Het
Cic A C 7: 24,987,706 (GRCm39) T558P possibly damaging Het
Cntln A G 4: 84,985,747 (GRCm39) M933V probably benign Het
Coch T C 12: 51,644,956 (GRCm39) F170S probably damaging Het
Col26a1 T C 5: 136,773,032 (GRCm39) M383V probably benign Het
Col4a4 A T 1: 82,431,499 (GRCm39) M1595K unknown Het
Crh T C 3: 19,748,501 (GRCm39) E47G probably benign Het
D930020B18Rik T C 10: 121,497,053 (GRCm39) probably null Het
Def6 G A 17: 28,445,137 (GRCm39) R482H probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dpagt1 T C 9: 44,242,487 (GRCm39) L241P probably damaging Het
E2f7 A G 10: 110,610,542 (GRCm39) E389G probably damaging Het
Eif2b1 T C 5: 124,715,174 (GRCm39) I53V probably benign Het
Fbxo4 A G 15: 3,995,216 (GRCm39) L376P probably damaging Het
Fgfr2 A G 7: 129,787,008 (GRCm39) S352P possibly damaging Het
Fkbpl C A 17: 34,864,388 (GRCm39) P52Q possibly damaging Het
Fry G A 5: 150,309,479 (GRCm39) R641H probably damaging Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gm12728 A G 4: 105,651,546 (GRCm39) K52R probably damaging Het
Gtf2a1l A G 17: 89,019,053 (GRCm39) D379G probably benign Het
Gys1 A T 7: 45,092,393 (GRCm39) Y332F possibly damaging Het
Hoxa7 T A 6: 52,193,594 (GRCm39) probably benign Het
Ifitm1 G A 7: 140,549,519 (GRCm39) V101I probably benign Het
Kalrn T A 16: 34,181,354 (GRCm39) T95S probably damaging Het
Leng8 A G 7: 4,148,412 (GRCm39) Y728C probably damaging Het
Lonp2 G T 8: 87,361,536 (GRCm39) D238Y possibly damaging Het
Ltn1 A C 16: 87,175,868 (GRCm39) S1757A probably damaging Het
Man2a2 A T 7: 80,013,819 (GRCm39) S411T probably damaging Het
Mrps33 C A 6: 39,782,304 (GRCm39) probably null Het
Muc16 C T 9: 18,461,973 (GRCm39) probably null Het
Muc5ac A G 7: 141,362,808 (GRCm39) probably benign Het
Naip2 A C 13: 100,298,549 (GRCm39) S496A probably benign Het
Or10al6 T G 17: 38,083,194 (GRCm39) F217V probably damaging Het
Or13p8 A G 4: 118,583,930 (GRCm39) Y162C probably damaging Het
Or1j21 T A 2: 36,683,789 (GRCm39) D180E possibly damaging Het
Or4c106 A T 2: 88,682,863 (GRCm39) T190S probably damaging Het
Or55b10 A T 7: 102,143,346 (GRCm39) V212D probably damaging Het
Or5w17 T C 2: 87,583,812 (GRCm39) N175S probably damaging Het
Pag1 T A 3: 9,764,396 (GRCm39) E252D possibly damaging Het
Plcd3 T C 11: 102,968,593 (GRCm39) Y366C probably damaging Het
Psg17 A C 7: 18,548,375 (GRCm39) S465R probably damaging Het
Ptpn9 G T 9: 56,930,324 (GRCm39) V50L probably damaging Het
Rab17 T G 1: 90,886,683 (GRCm39) S190R probably benign Het
Samd11 A G 4: 156,333,535 (GRCm39) probably null Het
Slc17a5 A G 9: 78,445,553 (GRCm39) F434S possibly damaging Het
Slc22a15 A G 3: 101,790,899 (GRCm39) I202T possibly damaging Het
Slc8a1 G T 17: 81,696,347 (GRCm39) Q896K probably benign Het
Slc9a5 A T 8: 106,085,025 (GRCm39) K509* probably null Het
Slf2 A C 19: 44,961,603 (GRCm39) M1041L probably benign Het
Smn1 A G 13: 100,265,008 (GRCm39) probably null Het
Snx9 T C 17: 5,972,484 (GRCm39) probably null Het
Soat2 T A 15: 102,070,490 (GRCm39) L431Q probably damaging Het
Spam1 T A 6: 24,796,929 (GRCm39) N293K probably benign Het
Tatdn1 T C 15: 58,795,760 (GRCm39) T66A possibly damaging Het
Tmprss11g A T 5: 86,640,015 (GRCm39) S205T probably benign Het
Tnpo3 G T 6: 29,571,100 (GRCm39) N431K possibly damaging Het
Trim39 T C 17: 36,579,554 (GRCm39) T31A probably benign Het
Trmt9b T C 8: 36,965,637 (GRCm39) probably null Het
Tshz3 A G 7: 36,451,764 (GRCm39) probably null Het
Ttll11 G A 2: 35,792,766 (GRCm39) T359M probably damaging Het
Ttn T G 2: 76,571,843 (GRCm39) D26350A probably damaging Het
Ubr4 G T 4: 139,159,062 (GRCm39) V2472F probably damaging Het
Vsx2 C T 12: 84,639,878 (GRCm39) P265S probably benign Het
Wdr90 C T 17: 26,064,885 (GRCm39) G1708R probably damaging Het
Wnt11 A G 7: 98,502,481 (GRCm39) Y351C probably damaging Het
Xpo6 A C 7: 125,712,057 (GRCm39) N3K probably damaging Het
Zfp445 A G 9: 122,686,631 (GRCm39) S165P probably benign Het
Zfp953 A T 13: 67,496,001 (GRCm39) Y13* probably null Het
Zftraf1 T C 15: 76,542,908 (GRCm39) probably null Het
Other mutations in Col1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Col1a2 APN 6 4,531,095 (GRCm39) splice site probably benign
IGL01126:Col1a2 APN 6 4,535,846 (GRCm39) missense unknown
IGL01129:Col1a2 APN 6 4,535,846 (GRCm39) missense unknown
IGL01286:Col1a2 APN 6 4,533,891 (GRCm39) missense unknown
IGL01687:Col1a2 APN 6 4,520,258 (GRCm39) nonsense probably null
IGL01866:Col1a2 APN 6 4,524,132 (GRCm39) missense probably damaging 1.00
IGL02010:Col1a2 APN 6 4,512,416 (GRCm39) critical splice donor site probably null
IGL02100:Col1a2 APN 6 4,524,177 (GRCm39) splice site probably benign
IGL02140:Col1a2 APN 6 4,515,639 (GRCm39) missense unknown
IGL02474:Col1a2 APN 6 4,516,398 (GRCm39) missense unknown
IGL02510:Col1a2 APN 6 4,516,398 (GRCm39) missense unknown
IGL02525:Col1a2 APN 6 4,531,355 (GRCm39) splice site probably benign
IGL02839:Col1a2 APN 6 4,538,748 (GRCm39) missense unknown
IGL03134:Col1a2 APN 6 4,521,387 (GRCm39) unclassified probably benign
IGL03385:Col1a2 APN 6 4,539,612 (GRCm39) missense unknown
hollow UTSW 6 4,538,680 (GRCm39) missense unknown
marrow UTSW 6 4,531,316 (GRCm39) missense unknown
myelo UTSW 6 4,515,682 (GRCm39) missense unknown
P4717OSA:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
PIT4453001:Col1a2 UTSW 6 4,527,079 (GRCm39) missense possibly damaging 0.94
R0021:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0022:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0025:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0027:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0028:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0031:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0038:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0064:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0102:Col1a2 UTSW 6 4,520,775 (GRCm39) missense possibly damaging 0.92
R0147:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0323:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0326:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0326:Col1a2 UTSW 6 4,537,838 (GRCm39) missense unknown
R0335:Col1a2 UTSW 6 4,531,956 (GRCm39) splice site probably benign
R0359:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0363:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0612:Col1a2 UTSW 6 4,516,003 (GRCm39) missense unknown
R0729:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0746:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0760:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0761:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0801:Col1a2 UTSW 6 4,531,316 (GRCm39) missense unknown
R0845:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0846:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0969:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R0970:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R1105:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R1106:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R1107:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R1134:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R1135:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R1152:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R1333:Col1a2 UTSW 6 4,515,684 (GRCm39) critical splice donor site probably null
R1341:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R1470:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R1470:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R1477:Col1a2 UTSW 6 4,539,673 (GRCm39) missense unknown
R1566:Col1a2 UTSW 6 4,523,613 (GRCm39) missense probably damaging 1.00
R1691:Col1a2 UTSW 6 4,536,038 (GRCm39) missense unknown
R1713:Col1a2 UTSW 6 4,538,691 (GRCm39) missense unknown
R1754:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R1755:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R2050:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R2178:Col1a2 UTSW 6 4,531,143 (GRCm39) missense unknown
R2194:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R2195:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R2235:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R2261:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R2262:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R2263:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R2289:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R2310:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R2312:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R2330:Col1a2 UTSW 6 4,528,300 (GRCm39) splice site probably benign
R2333:Col1a2 UTSW 6 4,532,747 (GRCm39) missense unknown
R2401:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R2403:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R2448:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R2513:Col1a2 UTSW 6 4,531,223 (GRCm39) splice site probably null
R2862:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R2884:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R2885:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R2913:Col1a2 UTSW 6 4,519,923 (GRCm39) unclassified probably benign
R2937:Col1a2 UTSW 6 4,520,788 (GRCm39) missense possibly damaging 0.92
R2937:Col1a2 UTSW 6 4,519,882 (GRCm39) unclassified probably benign
R2938:Col1a2 UTSW 6 4,520,788 (GRCm39) missense possibly damaging 0.92
R3608:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R3692:Col1a2 UTSW 6 4,510,710 (GRCm39) missense possibly damaging 0.84
R3805:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R3806:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R3826:Col1a2 UTSW 6 4,516,960 (GRCm39) unclassified probably benign
R3903:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R3904:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R3922:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R3926:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R4106:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R4107:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R4108:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R4109:Col1a2 UTSW 6 4,510,705 (GRCm39) nonsense probably null
R4509:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
R4667:Col1a2 UTSW 6 4,512,412 (GRCm39) missense unknown
R4909:Col1a2 UTSW 6 4,529,058 (GRCm39) splice site probably benign
R5418:Col1a2 UTSW 6 4,516,931 (GRCm39) unclassified probably benign
R5587:Col1a2 UTSW 6 4,540,531 (GRCm39) missense unknown
R5598:Col1a2 UTSW 6 4,516,916 (GRCm39) unclassified probably benign
R5673:Col1a2 UTSW 6 4,539,622 (GRCm39) missense unknown
R5678:Col1a2 UTSW 6 4,536,239 (GRCm39) missense unknown
R5763:Col1a2 UTSW 6 4,515,682 (GRCm39) missense unknown
R5786:Col1a2 UTSW 6 4,530,223 (GRCm39) missense unknown
R5872:Col1a2 UTSW 6 4,531,926 (GRCm39) missense unknown
R6084:Col1a2 UTSW 6 4,505,840 (GRCm39) start codon destroyed probably benign 0.01
R6134:Col1a2 UTSW 6 4,538,035 (GRCm39) missense unknown
R6221:Col1a2 UTSW 6 4,539,490 (GRCm39) missense unknown
R6500:Col1a2 UTSW 6 4,515,517 (GRCm39) missense unknown
R6890:Col1a2 UTSW 6 4,539,587 (GRCm39) missense unknown
R7022:Col1a2 UTSW 6 4,534,639 (GRCm39) missense unknown
R7033:Col1a2 UTSW 6 4,516,904 (GRCm39) unclassified probably benign
R7195:Col1a2 UTSW 6 4,510,753 (GRCm39) missense unknown
R7657:Col1a2 UTSW 6 4,527,152 (GRCm39) missense probably null 0.99
R7686:Col1a2 UTSW 6 4,518,964 (GRCm39) missense unknown
R7875:Col1a2 UTSW 6 4,518,500 (GRCm39) missense unknown
R8023:Col1a2 UTSW 6 4,533,847 (GRCm39) missense unknown
R8208:Col1a2 UTSW 6 4,515,260 (GRCm39) splice site probably null
R8277:Col1a2 UTSW 6 4,516,410 (GRCm39) missense probably null
R8438:Col1a2 UTSW 6 4,515,518 (GRCm39) missense unknown
R8438:Col1a2 UTSW 6 4,515,517 (GRCm39) missense unknown
R8993:Col1a2 UTSW 6 4,535,451 (GRCm39) missense unknown
R9109:Col1a2 UTSW 6 4,515,260 (GRCm39) splice site probably null
R9298:Col1a2 UTSW 6 4,515,260 (GRCm39) splice site probably null
R9315:Col1a2 UTSW 6 4,540,544 (GRCm39) missense unknown
R9490:Col1a2 UTSW 6 4,505,901 (GRCm39) missense unknown
V5622:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
V5622:Col1a2 UTSW 6 4,518,822 (GRCm39) unclassified probably benign
X0017:Col1a2 UTSW 6 4,515,675 (GRCm39) missense unknown
Z1176:Col1a2 UTSW 6 4,532,750 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCACTAACTGTGGGATAGGTGATG -3'
(R):5'- CTCATGAGGGTAAAGGGTTAAAGCC -3'

Sequencing Primer
(F):5'- TGGAACAGCACCATCAAAATG -3'
(R):5'- GGTTAAAGCCCAAGTAATTAAAAAGC -3'
Posted On 2018-05-21