Incidental Mutation 'R7657:Col1a2'
ID 591264
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 045733-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7657 (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 T at 4527152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 627 (K627M)
Ref Sequence ENSEMBL: ENSMUSP00000031668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031668]
AlphaFold Q01149
Predicted Effect probably null
Transcript: ENSMUST00000031668
AA Change: K627M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031668
Gene: ENSMUSG00000029661
AA Change: K627M

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (80/80)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,337 (GRCm39) E28G possibly damaging Het
Acot6 G A 12: 84,153,304 (GRCm39) G182D possibly damaging Het
Actl9 A G 17: 33,652,014 (GRCm39) T25A probably benign Het
Adam26b G A 8: 43,974,579 (GRCm39) T141I possibly damaging Het
Agl T C 3: 116,572,812 (GRCm39) H148R Het
Angptl1 A G 1: 156,684,790 (GRCm39) I320V probably benign Het
Arhgef10 C T 8: 15,029,893 (GRCm39) R932C probably damaging Het
Atp13a2 A G 4: 140,719,815 (GRCm39) E91G possibly damaging Het
Bptf T A 11: 106,965,555 (GRCm39) E1213V probably damaging Het
C530025M09Rik A G 2: 149,672,541 (GRCm39) V198A unknown Het
Casd1 A T 6: 4,619,773 (GRCm39) I173F probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Ctcfl G A 2: 172,955,449 (GRCm39) T271I possibly damaging Het
Dctn2 T C 10: 127,102,383 (GRCm39) Y6H probably damaging Het
Denr T C 5: 124,046,263 (GRCm39) V31A probably damaging Het
Entpd7 T C 19: 43,713,906 (GRCm39) F422L possibly damaging Het
Fastkd5 G C 2: 130,458,176 (GRCm39) P138R probably benign Het
Fmn1 G T 2: 113,355,538 (GRCm39) A758S unknown Het
Fmo2 A G 1: 162,716,413 (GRCm39) V58A probably damaging Het
Fmo6 A G 1: 162,750,285 (GRCm39) I257T probably benign Het
Foxn1 T C 11: 78,256,790 (GRCm39) T302A probably benign Het
Ganab C T 19: 8,884,721 (GRCm39) L175F probably damaging Het
Gga1 A T 15: 78,773,327 (GRCm39) probably null Het
Gjd3 G T 11: 98,873,586 (GRCm39) S86* probably null Het
Gm1330 A G 2: 148,841,154 (GRCm39) probably null Het
Gm18596 A C 10: 77,577,947 (GRCm39) S176A unknown Het
Gnl2 A G 4: 124,923,951 (GRCm39) S10G probably benign Het
Gpsm2 G A 3: 108,608,061 (GRCm39) A239V probably damaging Het
Grik2 T C 10: 49,659,247 (GRCm39) R37G probably benign Het
Grm3 A G 5: 9,561,452 (GRCm39) probably null Het
Gtpbp3 T C 8: 71,943,765 (GRCm39) L216P probably benign Het
Hhla1 T C 15: 65,837,308 (GRCm39) T99A probably damaging Het
Igtp A T 11: 58,097,654 (GRCm39) Q275L probably benign Het
Itga6 G A 2: 71,676,595 (GRCm39) A993T probably benign Het
Jakmip3 T A 7: 138,620,903 (GRCm39) I234N probably damaging Het
Kcnh7 A G 2: 62,566,379 (GRCm39) F851L probably damaging Het
Krr1 A G 10: 111,811,504 (GRCm39) Y66C probably damaging Het
Krt33a T A 11: 99,906,693 (GRCm39) Q94L probably benign Het
Mat1a A T 14: 40,844,476 (GRCm39) K369* probably null Het
Mbd1 T G 18: 74,407,804 (GRCm39) L277R probably damaging Het
Mmp21 C T 7: 133,280,562 (GRCm39) G136D probably benign Het
Mroh3 A G 1: 136,109,532 (GRCm39) Y892H possibly damaging Het
Ncbp3 G A 11: 72,964,193 (GRCm39) R381Q probably damaging Het
Nlrp2 T A 7: 5,322,167 (GRCm39) I827L probably benign Het
Nrip1 T A 16: 76,091,587 (GRCm39) probably null Het
Or2ak4 A T 11: 58,648,755 (GRCm39) D88V probably benign Het
Or4f6 A G 2: 111,839,093 (GRCm39) V146A probably benign Het
Or5w13 C T 2: 87,523,336 (GRCm39) V297I probably damaging Het
Oxt C T 2: 130,418,710 (GRCm39) P107L possibly damaging Het
Pcdhga2 G A 18: 37,803,481 (GRCm39) V442M probably damaging Het
Phtf1 T G 3: 103,876,429 (GRCm39) S10A probably benign Het
Plb1 A C 5: 32,487,211 (GRCm39) N902T probably damaging Het
Plppr3 T C 10: 79,702,272 (GRCm39) I267V probably benign Het
Pms2 C A 5: 143,856,357 (GRCm39) H278Q possibly damaging Het
Pmvk T A 3: 89,376,158 (GRCm39) S154T possibly damaging Het
Polr3b T A 10: 84,491,855 (GRCm39) M338K probably damaging Het
Ppp1r21 T A 17: 88,863,110 (GRCm39) I283N probably damaging Het
Ptprj A T 2: 90,282,501 (GRCm39) probably null Het
Rft1 T A 14: 30,388,724 (GRCm39) L216H probably damaging Het
Rpl3 G A 15: 79,965,258 (GRCm39) P174S probably benign Het
Rtl1 T C 12: 109,561,818 (GRCm39) D7G possibly damaging Het
Slc13a2 A G 11: 78,289,223 (GRCm39) V496A probably damaging Het
Slc14a1 A G 18: 78,156,879 (GRCm39) probably null Het
Slc8a3 T C 12: 81,361,158 (GRCm39) R554G probably damaging Het
Spata31d1b T C 13: 59,863,577 (GRCm39) S242P possibly damaging Het
Spocd1 G A 4: 129,823,535 (GRCm39) V111I Het
Stxbp5l G A 16: 37,030,534 (GRCm39) A479V probably null Het
Tasor2 A G 13: 3,623,777 (GRCm39) S2058P probably damaging Het
Tmem238 C G 7: 4,792,226 (GRCm39) G106R probably damaging Het
Trak1 T G 9: 121,301,652 (GRCm39) Y803D probably damaging Het
Trim5 T C 7: 103,925,884 (GRCm39) S226G possibly damaging Het
Trim6 T A 7: 103,881,068 (GRCm39) D282E possibly damaging Het
Ube2e2 A G 14: 18,586,997 (GRCm38) V121A probably benign Het
Ufd1 T G 16: 18,636,713 (GRCm39) M77R probably benign Het
Unc13c C T 9: 73,441,185 (GRCm39) probably null Het
Wfs1 A G 5: 37,125,578 (GRCm39) S438P probably benign Het
Zbtb6 A C 2: 37,319,087 (GRCm39) D280E probably benign Het
Zfp595 G A 13: 67,465,817 (GRCm39) L152F probably damaging Het
Zfpm2 A G 15: 40,966,671 (GRCm39) E1052G possibly damaging Het
Zmym5 A G 14: 57,041,653 (GRCm39) V150A 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
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
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
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'- CTGAAATGTGGTAGAACCCCATC -3'
(R):5'- CGAATTCATTCTTGGCTTCTAGAC -3'

Sequencing Primer
(F):5'- TGTGGTAGAACCCCATCTAAAACTC -3'
(R):5'- GCTTGTAACTGAGGTAGAAAT -3'
Posted On 2019-11-12