Incidental Mutation 'R7195:Col1a2'
ID 559850
Institutional Source Beutler Lab
Gene Symbol Col1a2
Ensembl Gene ENSMUSG00000029661
Gene Name collagen, type I, alpha 2
Synonyms Cola2, Cola-2, Col1a-2
MMRRC Submission 045336-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7195 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 4504814-4541544 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4510753 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 68 (P68S)
Ref Sequence ENSEMBL: ENSMUSP00000031668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031668] [ENSMUST00000141483]
AlphaFold Q01149
Predicted Effect unknown
Transcript: ENSMUST00000031668
AA Change: P68S
SMART Domains Protein: ENSMUSP00000031668
Gene: ENSMUSG00000029661
AA Change: P68S

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 unknown
Transcript: ENSMUST00000141483
AA Change: P68S
SMART Domains Protein: ENSMUSP00000125275
Gene: ENSMUSG00000029661
AA Change: P68S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Collagen 30 89 3.2e-10 PFAM
Pfam:Collagen 87 145 8.5e-10 PFAM
Pfam:Collagen 121 177 3.3e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik T C 11: 58,288,416 (GRCm38) probably null Het
4930563D23Rik C T 16: 92,321,149 (GRCm38) V84M probably damaging Het
Abca2 A G 2: 25,442,076 (GRCm38) D1400G probably benign Het
Actl11 A T 9: 107,928,870 (GRCm38) K131* probably null Het
Adam39 A T 8: 40,824,775 (GRCm38) R68* probably null Het
Akap7 A T 10: 25,271,507 (GRCm38) N108K probably damaging Het
Arhgef10l C A 4: 140,611,410 (GRCm38) A14S probably benign Het
BC067074 A T 13: 113,367,929 (GRCm38) D1864V Het
Ccdc141 T G 2: 77,049,583 (GRCm38) N632T probably benign Het
Ccm2 T C 11: 6,596,302 (GRCm38) S435P probably damaging Het
Cd36 A G 5: 17,814,189 (GRCm38) L178P probably damaging Het
Cd7 T C 11: 121,038,249 (GRCm38) I59V probably benign Het
Cds2 T A 2: 132,293,284 (GRCm38) S32T probably benign Het
Cep19 A G 16: 32,107,086 (GRCm38) D104G probably damaging Het
Col20a1 A G 2: 181,007,231 (GRCm38) H1011R probably damaging Het
D7Ertd443e A G 7: 134,295,122 (GRCm38) V513A probably damaging Het
Egfr C T 11: 16,868,162 (GRCm38) P228L probably damaging Het
Fam78b A G 1: 167,078,562 (GRCm38) R97G probably damaging Het
Flt1 C T 5: 147,603,576 (GRCm38) V768M probably damaging Het
Gdap1l1 A T 2: 163,446,130 (GRCm38) N96Y probably damaging Het
Gm7168 T A 17: 13,949,360 (GRCm38) Y330N probably benign Het
Hnrnpul1 T C 7: 25,724,778 (GRCm38) N683S unknown Het
Ice2 C T 9: 69,428,500 (GRCm38) P922S possibly damaging Het
Iglv2 A G 16: 19,260,510 (GRCm38) V81A not run Het
Irs1 A G 1: 82,287,456 (GRCm38) I1013T probably benign Het
Itih4 T C 14: 30,899,475 (GRCm38) S832P probably damaging Het
Klhl1 A T 14: 96,280,077 (GRCm38) Y388N probably benign Het
Lrrc37a G A 11: 103,457,775 (GRCm38) S2698L unknown Het
Map4k4 T C 1: 40,019,669 (GRCm38) Y1008H possibly damaging Het
Mdn1 G T 4: 32,701,823 (GRCm38) G1519W probably damaging Het
Mga T A 2: 119,917,328 (GRCm38) D653E probably damaging Het
Npas1 T C 7: 16,474,808 (GRCm38) E48G probably damaging Het
Nup188 G A 2: 30,341,830 (GRCm38) probably null Het
Olfr1215 G A 2: 89,001,731 (GRCm38) L186F Het
Olfr33 A G 7: 102,713,666 (GRCm38) V249A possibly damaging Het
Olfr399 T A 11: 74,054,397 (GRCm38) M121L probably damaging Het
Olfr404-ps1 G T 11: 74,239,568 (GRCm38) M1I probably null Het
Olfr544 A T 7: 102,484,367 (GRCm38) V251D probably damaging Het
Olfr871 A G 9: 20,212,544 (GRCm38) N65S probably damaging Het
Oxct1 T C 15: 4,128,901 (GRCm38) V439A probably damaging Het
Pcdhb22 G T 18: 37,519,288 (GRCm38) G13W probably damaging Het
Pex11g A G 8: 3,459,237 (GRCm38) V230A probably benign Het
Pop1 C T 15: 34,510,379 (GRCm38) S439L probably damaging Het
Ptpn9 T A 9: 57,022,249 (GRCm38) H83Q probably benign Het
Qrfp C T 2: 31,808,692 (GRCm38) R76H probably benign Het
Slc30a3 A G 5: 31,088,795 (GRCm38) V197A probably benign Het
Slc8a3 T C 12: 81,314,273 (GRCm38) N591D possibly damaging Het
Sp4 G T 12: 118,300,072 (GRCm38) Q80K possibly damaging Het
Spock1 C T 13: 57,907,502 (GRCm38) G29D possibly damaging Het
Sprr1a G T 3: 92,484,367 (GRCm38) P109Q probably damaging Het
Suz12 T A 11: 80,013,483 (GRCm38) F239L probably damaging Het
Tbx3 A G 5: 119,675,583 (GRCm38) Y248C probably damaging Het
Trabd2b T C 4: 114,409,440 (GRCm38) L217P probably damaging Het
Ubxn11 A C 4: 134,126,415 (GRCm38) I398L possibly damaging Het
Vmn1r173 T A 7: 23,702,459 (GRCm38) S40T probably damaging Het
Vmn2r2 T C 3: 64,116,479 (GRCm38) S894G probably benign Het
Vmn2r65 A G 7: 84,943,139 (GRCm38) probably null Het
Vps13c G A 9: 67,945,825 (GRCm38) G2400D possibly damaging Het
Vps8 T C 16: 21,456,282 (GRCm38) Y197H probably damaging Het
Wdr91 T C 6: 34,889,274 (GRCm38) N486D possibly damaging Het
Wwp1 A G 4: 19,627,908 (GRCm38) I695T possibly damaging Het
Zc3hc1 T C 6: 30,382,548 (GRCm38) D133G probably benign Het
Zcchc14 T C 8: 121,608,461 (GRCm38) I307V unknown Het
Zfp933 G A 4: 147,826,179 (GRCm38) T320I probably benign Het
Other mutations in Col1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Col1a2 APN 6 4,531,095 (GRCm38) splice site probably benign
IGL01126:Col1a2 APN 6 4,535,846 (GRCm38) missense unknown
IGL01129:Col1a2 APN 6 4,535,846 (GRCm38) missense unknown
IGL01286:Col1a2 APN 6 4,533,891 (GRCm38) missense unknown
IGL01687:Col1a2 APN 6 4,520,258 (GRCm38) nonsense probably null
IGL01866:Col1a2 APN 6 4,524,132 (GRCm38) missense probably damaging 1.00
IGL02010:Col1a2 APN 6 4,512,416 (GRCm38) critical splice donor site probably null
IGL02100:Col1a2 APN 6 4,524,177 (GRCm38) splice site probably benign
IGL02140:Col1a2 APN 6 4,515,639 (GRCm38) missense unknown
IGL02474:Col1a2 APN 6 4,516,398 (GRCm38) missense unknown
IGL02510:Col1a2 APN 6 4,516,398 (GRCm38) missense unknown
IGL02525:Col1a2 APN 6 4,531,355 (GRCm38) splice site probably benign
IGL02839:Col1a2 APN 6 4,538,748 (GRCm38) missense unknown
IGL03134:Col1a2 APN 6 4,521,387 (GRCm38) unclassified probably benign
IGL03385:Col1a2 APN 6 4,539,612 (GRCm38) missense unknown
hollow UTSW 6 4,538,680 (GRCm38) missense unknown
marrow UTSW 6 4,531,316 (GRCm38) missense unknown
myelo UTSW 6 4,515,682 (GRCm38) missense unknown
P4717OSA:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
PIT4453001:Col1a2 UTSW 6 4,527,079 (GRCm38) missense possibly damaging 0.94
R0021:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0022:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0025:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0027:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0028:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0031:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0038:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0064:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0102:Col1a2 UTSW 6 4,520,775 (GRCm38) missense possibly damaging 0.92
R0147:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0323:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0326:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0326:Col1a2 UTSW 6 4,537,838 (GRCm38) missense unknown
R0335:Col1a2 UTSW 6 4,531,956 (GRCm38) splice site probably benign
R0359:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0363:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0612:Col1a2 UTSW 6 4,516,003 (GRCm38) missense unknown
R0729:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0746:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0760:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0761:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0801:Col1a2 UTSW 6 4,531,316 (GRCm38) missense unknown
R0845:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0846:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0969:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R0970:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R1105:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R1106:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R1107:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R1134:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R1135:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R1152:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R1333:Col1a2 UTSW 6 4,515,684 (GRCm38) critical splice donor site probably null
R1341:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R1470:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R1470:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R1477:Col1a2 UTSW 6 4,539,673 (GRCm38) missense unknown
R1566:Col1a2 UTSW 6 4,523,613 (GRCm38) missense probably damaging 1.00
R1691:Col1a2 UTSW 6 4,536,038 (GRCm38) missense unknown
R1713:Col1a2 UTSW 6 4,538,691 (GRCm38) missense unknown
R1754:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R1755:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R2050:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R2178:Col1a2 UTSW 6 4,531,143 (GRCm38) missense unknown
R2194:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R2195:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R2235:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R2261:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R2262:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R2263:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R2289:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R2310:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R2312:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R2330:Col1a2 UTSW 6 4,528,300 (GRCm38) splice site probably benign
R2333:Col1a2 UTSW 6 4,532,747 (GRCm38) missense unknown
R2401:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R2403:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R2448:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R2513:Col1a2 UTSW 6 4,531,223 (GRCm38) splice site probably null
R2862:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R2884:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R2885:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R2913:Col1a2 UTSW 6 4,519,923 (GRCm38) unclassified probably benign
R2937:Col1a2 UTSW 6 4,520,788 (GRCm38) missense possibly damaging 0.92
R2937:Col1a2 UTSW 6 4,519,882 (GRCm38) unclassified probably benign
R2938:Col1a2 UTSW 6 4,520,788 (GRCm38) missense possibly damaging 0.92
R3608:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R3692:Col1a2 UTSW 6 4,510,710 (GRCm38) missense possibly damaging 0.84
R3805:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R3806:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R3826:Col1a2 UTSW 6 4,516,960 (GRCm38) unclassified probably benign
R3903:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R3904:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R3922:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R3926:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R4106:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R4107:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R4108:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R4109:Col1a2 UTSW 6 4,510,705 (GRCm38) nonsense probably null
R4509:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
R4667:Col1a2 UTSW 6 4,512,412 (GRCm38) missense unknown
R4909:Col1a2 UTSW 6 4,529,058 (GRCm38) splice site probably benign
R5418:Col1a2 UTSW 6 4,516,931 (GRCm38) unclassified probably benign
R5587:Col1a2 UTSW 6 4,540,531 (GRCm38) missense unknown
R5598:Col1a2 UTSW 6 4,516,916 (GRCm38) unclassified probably benign
R5673:Col1a2 UTSW 6 4,539,622 (GRCm38) missense unknown
R5678:Col1a2 UTSW 6 4,536,239 (GRCm38) missense unknown
R5763:Col1a2 UTSW 6 4,515,682 (GRCm38) missense unknown
R5786:Col1a2 UTSW 6 4,530,223 (GRCm38) missense unknown
R5872:Col1a2 UTSW 6 4,531,926 (GRCm38) missense unknown
R6084:Col1a2 UTSW 6 4,505,840 (GRCm38) start codon destroyed probably benign 0.01
R6134:Col1a2 UTSW 6 4,538,035 (GRCm38) missense unknown
R6221:Col1a2 UTSW 6 4,539,490 (GRCm38) missense unknown
R6481:Col1a2 UTSW 6 4,538,680 (GRCm38) missense unknown
R6500:Col1a2 UTSW 6 4,515,517 (GRCm38) missense unknown
R6890:Col1a2 UTSW 6 4,539,587 (GRCm38) missense unknown
R7022:Col1a2 UTSW 6 4,534,639 (GRCm38) missense unknown
R7033:Col1a2 UTSW 6 4,516,904 (GRCm38) unclassified probably benign
R7657:Col1a2 UTSW 6 4,527,152 (GRCm38) missense probably null 0.99
R7686:Col1a2 UTSW 6 4,518,964 (GRCm38) missense unknown
R7875:Col1a2 UTSW 6 4,518,500 (GRCm38) missense unknown
R8023:Col1a2 UTSW 6 4,533,847 (GRCm38) missense unknown
R8208:Col1a2 UTSW 6 4,515,260 (GRCm38) splice site probably null
R8277:Col1a2 UTSW 6 4,516,410 (GRCm38) missense probably null
R8438:Col1a2 UTSW 6 4,515,518 (GRCm38) missense unknown
R8438:Col1a2 UTSW 6 4,515,517 (GRCm38) missense unknown
R8993:Col1a2 UTSW 6 4,535,451 (GRCm38) missense unknown
R9109:Col1a2 UTSW 6 4,515,260 (GRCm38) splice site probably null
R9298:Col1a2 UTSW 6 4,515,260 (GRCm38) splice site probably null
R9315:Col1a2 UTSW 6 4,540,544 (GRCm38) missense unknown
R9490:Col1a2 UTSW 6 4,505,901 (GRCm38) missense unknown
V5622:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
V5622:Col1a2 UTSW 6 4,518,822 (GRCm38) unclassified probably benign
X0017:Col1a2 UTSW 6 4,515,675 (GRCm38) missense unknown
Z1176:Col1a2 UTSW 6 4,532,750 (GRCm38) missense unknown
Predicted Primers PCR Primer
(F):5'- ACTGACCTTAGCATGTGTGTTC -3'
(R):5'- GGACTGTAATTGACAAGACCCTG -3'

Sequencing Primer
(F):5'- ACCTTAGCATGTGTGTTCTTAGGTC -3'
(R):5'- CTGTAATTGACAAGACCCTGAGGAAG -3'
Posted On 2019-06-26