Incidental Mutation 'R1713:Col1a2'
ID 190765
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 039746-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1713 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 4505618-4541543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4538691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1204 (S1204P)
Ref Sequence ENSEMBL: ENSMUSP00000031668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031668]
AlphaFold Q01149
Predicted Effect unknown
Transcript: ENSMUST00000031668
AA Change: S1204P
SMART Domains Protein: ENSMUSP00000031668
Gene: ENSMUSG00000029661
AA Change: S1204P

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 0.1071 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 98% (96/98)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,127,964 (GRCm39) I54F possibly damaging Het
Ackr1 A T 1: 173,159,916 (GRCm39) H134Q probably benign Het
Agtr1b A T 3: 20,370,473 (GRCm39) F44L probably benign Het
Ahnak G A 19: 8,989,173 (GRCm39) D3486N possibly damaging Het
Akap9 T C 5: 4,089,345 (GRCm39) probably null Het
Anks6 T A 4: 47,039,726 (GRCm39) Q495L probably benign Het
Arpp21 A G 9: 111,896,237 (GRCm39) S684P probably damaging Het
Ash1l A G 3: 88,983,531 (GRCm39) E2911G probably damaging Het
Avpi1 C T 19: 42,113,248 (GRCm39) E70K probably damaging Het
Btbd17 G T 11: 114,686,650 (GRCm39) P9T probably benign Het
C4b A G 17: 34,948,245 (GRCm39) probably benign Het
Carm1 T C 9: 21,497,785 (GRCm39) V385A probably damaging Het
Casd1 A G 6: 4,624,104 (GRCm39) D299G probably damaging Het
Clca3a1 T A 3: 144,730,307 (GRCm39) K179N probably benign Het
Col24a1 C T 3: 145,072,624 (GRCm39) Q780* probably null Het
Cxadr C A 16: 78,131,133 (GRCm39) N216K probably damaging Het
Daam1 C T 12: 71,942,656 (GRCm39) T40I unknown Het
Dab2 C T 15: 6,459,182 (GRCm39) P365S possibly damaging Het
Dnah1 A T 14: 31,001,139 (GRCm39) I2402N probably damaging Het
Dscaml1 T A 9: 45,663,988 (GRCm39) S1954R possibly damaging Het
Dync2h1 T C 9: 7,131,891 (GRCm39) T1639A probably benign Het
Ebf1 A T 11: 44,815,393 (GRCm39) I336F probably damaging Het
Ebna1bp2 A G 4: 118,482,881 (GRCm39) N290S possibly damaging Het
Gabra2 A G 5: 71,171,906 (GRCm39) I110T probably benign Het
Galk2 A G 2: 125,773,210 (GRCm39) N203S probably benign Het
Gria4 T C 9: 4,424,448 (GRCm39) T806A probably benign Het
Impg2 A G 16: 56,080,889 (GRCm39) T789A probably benign Het
Itga6 A G 2: 71,617,546 (GRCm39) T22A probably benign Het
Itgb4 T A 11: 115,894,315 (GRCm39) I1312N probably damaging Het
Kdm4c A G 4: 74,216,721 (GRCm39) D160G probably benign Het
Kdr A G 5: 76,129,127 (GRCm39) V173A probably benign Het
Kif14 T C 1: 136,455,202 (GRCm39) S1575P probably benign Het
Lcp1 G A 14: 75,436,884 (GRCm39) probably null Het
Lipe C A 7: 25,084,750 (GRCm39) S516I probably damaging Het
Lrrc61 G A 6: 48,545,708 (GRCm39) R177Q possibly damaging Het
Macf1 A G 4: 123,272,487 (GRCm39) I6429T probably damaging Het
Map3k4 C T 17: 12,468,458 (GRCm39) E1012K probably benign Het
Map3k5 T C 10: 19,986,593 (GRCm39) F936L possibly damaging Het
Mllt3 A T 4: 87,701,901 (GRCm39) N497K probably damaging Het
Moxd1 G A 10: 24,157,394 (GRCm39) G342D probably damaging Het
Mtdh A C 15: 34,114,985 (GRCm39) Q202H possibly damaging Het
Nav1 A G 1: 135,522,972 (GRCm39) probably benign Het
Nop56 T C 2: 130,119,886 (GRCm39) V109A possibly damaging Het
Obscn T C 11: 58,970,712 (GRCm39) D2540G probably damaging Het
Omg T C 11: 79,393,679 (GRCm39) I60V probably benign Het
Or10q12 A T 19: 13,746,659 (GRCm39) T318S probably benign Het
Or12e9 A T 2: 87,202,290 (GRCm39) Y138F probably damaging Het
Osbpl5 G A 7: 143,248,110 (GRCm39) H652Y probably damaging Het
Parvb T C 15: 84,182,192 (GRCm39) probably benign Het
Pcdhb3 A C 18: 37,436,375 (GRCm39) E780D probably benign Het
Pik3c3 A G 18: 30,456,639 (GRCm39) D723G possibly damaging Het
Prkdc T C 16: 15,612,958 (GRCm39) V3172A probably benign Het
Psme4 G T 11: 30,756,310 (GRCm39) W272L probably damaging Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Rhobtb1 A C 10: 69,108,601 (GRCm39) S434R probably benign Het
Rhobtb1 G C 10: 69,108,602 (GRCm39) S434T possibly damaging Het
Rnf8 T C 17: 29,853,735 (GRCm39) F413S probably damaging Het
Rpn2 A G 2: 157,156,888 (GRCm39) N497S probably damaging Het
Rsbn1l G T 5: 21,156,488 (GRCm39) P99Q probably benign Het
Serpinb3b A T 1: 107,083,164 (GRCm39) M246K probably benign Het
Sgsm2 T C 11: 74,787,652 (GRCm39) E19G probably null Het
Shank1 A G 7: 43,969,161 (GRCm39) H352R unknown Het
Slc17a7 A G 7: 44,819,728 (GRCm39) I177V probably benign Het
Slc28a2 T A 2: 122,281,494 (GRCm39) F228I probably damaging Het
Slc35b4 C T 6: 34,147,484 (GRCm39) V35I probably benign Het
Slc38a1 T C 15: 96,476,641 (GRCm39) I407V probably damaging Het
Slc39a13 A G 2: 90,893,442 (GRCm39) V326A probably damaging Het
Slc44a5 T C 3: 153,944,743 (GRCm39) L120P probably damaging Het
Slfn3 T C 11: 83,104,140 (GRCm39) I214T probably damaging Het
Slitrk3 A C 3: 72,957,024 (GRCm39) S583A probably benign Het
Snx14 T C 9: 88,297,728 (GRCm39) Y180C probably damaging Het
Sorl1 T A 9: 41,907,538 (GRCm39) K1483I probably benign Het
Ssrp1 C A 2: 84,871,104 (GRCm39) H247N probably damaging Het
Stk39 A T 2: 68,137,460 (GRCm39) probably benign Het
Syde1 C T 10: 78,421,530 (GRCm39) G674R probably damaging Het
Tent4a A T 13: 69,651,170 (GRCm39) I565N probably benign Het
Themis3 G A 17: 66,862,848 (GRCm39) S370L probably benign Het
Tll1 T A 8: 64,554,907 (GRCm39) N259Y probably damaging Het
Tnip2 T G 5: 34,661,175 (GRCm39) probably benign Het
Top2b T C 14: 16,409,823 (GRCm38) V830A probably benign Het
Trpm8 T A 1: 88,292,802 (GRCm39) N934K probably damaging Het
Ttc14 A G 3: 33,857,069 (GRCm39) Y179C probably damaging Het
Ttn T G 2: 76,573,965 (GRCm39) I17316L possibly damaging Het
Tufm T C 7: 126,086,871 (GRCm39) V52A probably benign Het
Vamp8 T A 6: 72,365,270 (GRCm39) N20I probably benign Het
Vmn1r170 A T 7: 23,306,288 (GRCm39) H230L probably benign Het
Vmn2r50 T G 7: 9,771,731 (GRCm39) T657P probably damaging Het
Xirp2 G A 2: 67,342,762 (GRCm39) G1668R probably benign Het
Zik1 C A 7: 10,224,311 (GRCm39) R262L possibly damaging Het
Zscan25 T G 5: 145,220,501 (GRCm39) Y99D 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
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
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'- TCTCACTAACTGTGGGATAGGTGATGG -3'
(R):5'- TGTTGAATTAGGTGGCTGAGTCCAATC -3'

Sequencing Primer
(F):5'- GATGGAACAGCACCATCAAAATG -3'
(R):5'- GTGGCTGAGTCCAATCTTTTAATATG -3'
Posted On 2014-05-14