Incidental Mutation 'R0801:Col1a2'
ID 76274
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 038981-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0801 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 4505618-4541543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4531316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 762 (T762A)
Ref Sequence ENSEMBL: ENSMUSP00000031668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031668]
AlphaFold Q01149
Predicted Effect unknown
Transcript: ENSMUST00000031668
AA Change: T762A
SMART Domains Protein: ENSMUSP00000031668
Gene: ENSMUSG00000029661
AA Change: T762A

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: ENSMUST00000148864
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155687
Meta Mutation Damage Score 0.0590 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.2%
  • 10x: 97.6%
  • 20x: 94.7%
Validation Efficiency 98% (48/49)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik A G 10: 43,050,987 (GRCm39) K94E possibly damaging Het
Aldh16a1 A T 7: 44,796,900 (GRCm39) C228S probably benign Het
Arnt G T 3: 95,401,157 (GRCm39) R702L possibly damaging Het
Ccdc174 A G 6: 91,872,313 (GRCm39) E314G possibly damaging Het
Ccdc81 T C 7: 89,536,866 (GRCm39) probably null Het
Ccdc92 T C 5: 124,913,335 (GRCm39) T65A probably benign Het
Cenpm A T 15: 82,118,667 (GRCm39) I149N probably benign Het
Cfap44 C T 16: 44,242,849 (GRCm39) S751L probably benign Het
Cntrl A G 2: 35,065,107 (GRCm39) probably benign Het
Crebbp T C 16: 3,906,140 (GRCm39) K1621E probably damaging Het
Cux1 T A 5: 136,355,783 (GRCm39) I374L probably damaging Het
Dgkq A T 5: 108,808,586 (GRCm39) probably null Het
Dis3l T C 9: 64,226,436 (GRCm39) I365V probably benign Het
Dock2 T C 11: 34,599,620 (GRCm39) R320G probably damaging Het
Dst A G 1: 34,209,470 (GRCm39) N853S probably damaging Het
Egf T C 3: 129,496,234 (GRCm39) probably benign Het
Eif2ak2 T A 17: 79,173,778 (GRCm39) R267* probably null Het
Ern2 A G 7: 121,780,085 (GRCm39) probably benign Het
Ero1b A G 13: 12,596,568 (GRCm39) S123G probably benign Het
Fam13a G T 6: 58,960,997 (GRCm39) N118K probably benign Het
Gcn1 T A 5: 115,729,065 (GRCm39) M792K probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Irf3 C T 7: 44,650,058 (GRCm39) probably benign Het
Map2k5 T A 9: 63,265,261 (GRCm39) probably benign Het
Mcf2l T A 8: 13,064,020 (GRCm39) probably benign Het
Mdga2 A T 12: 66,533,507 (GRCm39) I878K probably damaging Het
Mdn1 T C 4: 32,668,895 (GRCm39) S318P probably benign Het
Or13a19 G A 7: 139,902,831 (GRCm39) C73Y probably damaging Het
Or5aq1b G A 2: 86,902,407 (GRCm39) Q24* probably null Het
Pklr G A 3: 89,052,829 (GRCm39) W527* probably null Het
Pnpla5 T C 15: 83,998,121 (GRCm39) M374V probably benign Het
Ptprn G T 1: 75,228,909 (GRCm39) H835Q probably damaging Het
R3hdm4 A G 10: 79,749,191 (GRCm39) probably benign Het
Rgs8 T A 1: 153,546,557 (GRCm39) C19S probably damaging Het
Smarca4 C A 9: 21,553,850 (GRCm39) Q575K possibly damaging Het
Srgap1 A T 10: 121,643,780 (GRCm39) F612L probably damaging Het
Svil A G 18: 5,099,443 (GRCm39) R1256G probably benign Het
Tox4 T C 14: 52,517,335 (GRCm39) S22P probably benign Het
Ttc39d A G 17: 80,523,644 (GRCm39) Y101C probably damaging Het
Usb1 T C 8: 96,060,168 (GRCm39) probably null Het
Vps13a T C 19: 16,664,020 (GRCm39) probably benign Het
Vps26a G A 10: 62,294,857 (GRCm39) probably benign Het
Zfp638 T A 6: 83,949,220 (GRCm39) probably benign 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
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
R6481:Col1a2 UTSW 6 4,538,680 (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'- CCAATGGATTTGCTGGTCCTGCTG -3'
(R):5'- TGTTCTGTCCCAACAAGTAACACCC -3'

Sequencing Primer
(F):5'- GTCCTGCTGTGAGTATCATATTAAG -3'
(R):5'- aaggtagaggcaggcgg -3'
Posted On 2013-10-16