Incidental Mutation 'R0335:Col1a2'
ID 26184
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 038544-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0335 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 4505618-4541543 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 4531956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031668]
AlphaFold Q01149
Predicted Effect probably benign
Transcript: ENSMUST00000031668
SMART Domains Protein: ENSMUSP00000031668
Gene: ENSMUSG00000029661

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
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.6%
  • 20x: 87.5%
Validation Efficiency 100% (89/89)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 G T 15: 11,311,144 (GRCm39) D1134Y possibly damaging Het
Add3 A G 19: 53,225,259 (GRCm39) T460A probably benign Het
Amer3 A C 1: 34,618,381 (GRCm39) probably benign Het
Arhgap22 C T 14: 33,081,065 (GRCm39) probably benign Het
Arhgap32 T G 9: 32,171,056 (GRCm39) S1279A probably benign Het
Bcas1 G A 2: 170,260,601 (GRCm39) T26M probably damaging Het
Begain A T 12: 109,004,860 (GRCm39) F256I probably damaging Het
Bltp1 T C 3: 37,023,301 (GRCm39) V2210A probably damaging Het
Cabin1 A T 10: 75,492,883 (GRCm39) I1804N probably damaging Het
Cad G A 5: 31,231,329 (GRCm39) probably benign Het
Carmil1 G A 13: 24,257,966 (GRCm39) S762L probably damaging Het
Ccdc93 T A 1: 121,420,706 (GRCm39) L529Q probably damaging Het
Cdh12 T A 15: 21,578,635 (GRCm39) probably null Het
Cep15 A G 14: 12,301,266 (GRCm38) E124G possibly damaging Het
Clip2 T A 5: 134,564,069 (GRCm39) probably benign Het
Cmip T C 8: 118,172,105 (GRCm39) I480T probably damaging Het
Cnot1 A T 8: 96,498,628 (GRCm39) I203K probably benign Het
Col18a1 G A 10: 76,895,197 (GRCm39) P1155S probably damaging Het
Crybg3 A T 16: 59,364,503 (GRCm39) L2373Q probably damaging Het
D130043K22Rik A T 13: 25,071,860 (GRCm39) I935F probably damaging Het
Dapl1 T A 2: 59,326,938 (GRCm39) D61E possibly damaging Het
Def6 A G 17: 28,447,043 (GRCm39) D558G possibly damaging Het
Dnah6 T C 6: 73,046,382 (GRCm39) probably benign Het
Dvl2 G A 11: 69,891,861 (GRCm39) probably benign Het
Ecd A C 14: 20,370,802 (GRCm39) V639G probably benign Het
Epg5 C T 18: 78,029,687 (GRCm39) T1350M probably benign Het
Erbb4 C A 1: 68,298,418 (GRCm39) M657I probably benign Het
Evi5 T C 5: 107,960,277 (GRCm39) R431G probably benign Het
Fbxo11 G A 17: 88,323,041 (GRCm39) A115V possibly damaging Het
Fgfr2 T C 7: 129,797,979 (GRCm39) T192A probably benign Het
Gas7 C T 11: 67,552,878 (GRCm39) A146V possibly damaging Het
Gatad2b T A 3: 90,263,489 (GRCm39) S529T probably benign Het
Gm10722 G T 9: 3,001,048 (GRCm39) Q41H probably null Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gm7535 A G 17: 18,131,374 (GRCm39) probably benign Het
Gstm1 T A 3: 107,920,012 (GRCm39) N193I possibly damaging Het
Heatr5b G A 17: 79,135,375 (GRCm39) P252L probably benign Het
Hmgb1 A G 5: 148,987,441 (GRCm39) V36A probably benign Het
Hrh1 G T 6: 114,457,193 (GRCm39) W158L probably damaging Het
Ighv6-4 T C 12: 114,370,294 (GRCm39) M53V probably benign Het
Iqgap2 T A 13: 95,772,141 (GRCm39) D1346V probably damaging Het
Kcng3 A T 17: 83,895,166 (GRCm39) N433K possibly damaging Het
Kif1a T A 1: 92,980,288 (GRCm39) probably benign Het
Lctl C A 9: 64,026,169 (GRCm39) Q75K probably benign Het
Ldb3 T A 14: 34,300,608 (GRCm39) I89F possibly damaging Het
Lrrc49 A T 9: 60,584,378 (GRCm39) L156Q probably damaging Het
Mark2 G T 19: 7,259,193 (GRCm39) T83K probably benign Het
Ms4a15 A T 19: 10,957,574 (GRCm39) D170E probably damaging Het
Msantd2 A G 9: 37,434,056 (GRCm39) S99G possibly damaging Het
Nemf G T 12: 69,400,577 (GRCm39) T124N probably benign Het
Nlrp9c A T 7: 26,093,561 (GRCm39) F35I possibly damaging Het
Nwd2 A G 5: 63,962,116 (GRCm39) I567V probably benign Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or11l3 T C 11: 58,516,566 (GRCm39) Y102C probably damaging Het
Or13p8 A G 4: 118,584,367 (GRCm39) I308V probably null Het
Or5v1b A C 17: 37,841,533 (GRCm39) I222L probably benign Het
Or7g16 T A 9: 18,727,290 (GRCm39) Q100L probably damaging Het
Pdk4 T C 6: 5,491,138 (GRCm39) E209G probably benign Het
Plch1 T C 3: 63,618,399 (GRCm39) Q712R probably damaging Het
Pnpla1 T A 17: 29,105,852 (GRCm39) V569E possibly damaging Het
Prkar2a A T 9: 108,596,457 (GRCm39) D134V probably damaging Het
Ptov1 T A 7: 44,514,046 (GRCm39) Q40L possibly damaging Het
Ptprq T C 10: 107,544,589 (GRCm39) I314V probably benign Het
Rabl2 T C 15: 89,468,169 (GRCm39) K66E probably damaging Het
Rnf38 A G 4: 44,152,507 (GRCm39) V19A possibly damaging Het
Scn2a T A 2: 65,512,435 (GRCm39) W191R probably damaging Het
Sec22b T A 3: 97,828,572 (GRCm39) F212I possibly damaging Het
Sec24c T A 14: 20,738,783 (GRCm39) probably null Het
Septin2 T C 1: 93,423,321 (GRCm39) S51P probably damaging Het
Serpinb1a T C 13: 33,032,639 (GRCm39) N90S probably damaging Het
Slc1a2 C T 2: 102,574,208 (GRCm39) T206I probably benign Het
Slc25a19 C A 11: 115,515,032 (GRCm39) R42L probably damaging Het
St14 G A 9: 31,002,620 (GRCm39) probably benign Het
Stxbp1 C T 2: 32,692,917 (GRCm39) probably benign Het
Tas2r131 C T 6: 132,934,792 (GRCm39) V6I probably benign Het
Tdo2 T A 3: 81,871,307 (GRCm39) M235L probably benign Het
Tenm3 T G 8: 48,685,140 (GRCm39) H2432P probably damaging Het
Tmprss15 C T 16: 78,821,630 (GRCm39) probably benign Het
Tmx1 A G 12: 70,500,030 (GRCm39) N30D probably benign Het
Tom1 A G 8: 75,791,020 (GRCm39) probably null Het
Top2a T C 11: 98,913,781 (GRCm39) N20S probably benign Het
Ttc23l T A 15: 10,540,049 (GRCm39) T145S probably benign Het
Unc13b T A 4: 43,236,983 (GRCm39) M3351K possibly damaging Het
Vmn1r47 T C 6: 89,999,641 (GRCm39) S258P probably damaging Het
Vmn2r8 T G 5: 108,945,317 (GRCm39) probably null Het
Vps11 T C 9: 44,265,135 (GRCm39) Q641R probably null Het
Wapl T A 14: 34,414,281 (GRCm39) I381N probably damaging Het
Zmym6 G A 4: 127,016,601 (GRCm39) G794E probably damaging 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
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
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'- ATGTGCCCATTAAGTGCCTACTGTC -3'
(R):5'- TTCAGTCAATGCCCGTGTAGTCG -3'

Sequencing Primer
(F):5'- atccgcctgcctctacc -3'
(R):5'- ACAGGACTCTCAAGCCTCTA -3'
Posted On 2013-04-16