Incidental Mutation 'R7422:Col6a2'
ID 575752
Institutional Source Beutler Lab
Gene Symbol Col6a2
Ensembl Gene ENSMUSG00000020241
Gene Name collagen, type VI, alpha 2
Synonyms Col6a-2
MMRRC Submission 045500-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7422 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 76431596-76459464 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 76439170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 833 (C833*)
Ref Sequence ENSEMBL: ENSMUSP00000001181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001181] [ENSMUST00000105413]
AlphaFold Q02788
Predicted Effect probably null
Transcript: ENSMUST00000001181
AA Change: C833*
SMART Domains Protein: ENSMUSP00000001181
Gene: ENSMUSG00000020241
AA Change: C833*

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
VWA 59 246 9.55e-29 SMART
Pfam:Collagen 269 329 3.3e-11 PFAM
Pfam:Collagen 317 383 6.2e-10 PFAM
Pfam:Collagen 366 430 2.2e-8 PFAM
Pfam:Collagen 424 483 1.7e-9 PFAM
low complexity region 502 517 N/A INTRINSIC
Pfam:Collagen 546 605 1.1e-9 PFAM
VWA 628 816 7.51e-36 SMART
VWA 846 1029 3.97e-26 SMART
Predicted Effect probably null
Transcript: ENSMUST00000105413
AA Change: C833*
SMART Domains Protein: ENSMUSP00000101053
Gene: ENSMUSG00000020241
AA Change: C833*

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
VWA 59 246 9.55e-29 SMART
Pfam:Collagen 269 330 5.2e-12 PFAM
Pfam:Collagen 316 384 6.1e-10 PFAM
Pfam:Collagen 364 431 1.4e-8 PFAM
Pfam:Collagen 424 483 5.3e-10 PFAM
Pfam:Collagen 475 542 3.3e-9 PFAM
Pfam:Collagen 531 605 7.4e-8 PFAM
VWA 628 816 7.51e-36 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.9%
Validation Efficiency 97% (98/101)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit reduced body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,771,885 (GRCm39) C456S probably damaging Het
4930524J08Rik T C 5: 100,127,068 (GRCm39) probably benign Het
Adam28 T G 14: 68,864,326 (GRCm39) R492S probably damaging Het
Adarb2 G A 13: 8,807,313 (GRCm39) A705T possibly damaging Het
Adprhl1 T C 8: 13,272,873 (GRCm39) D1295G probably benign Het
Aldh3b3 A G 19: 4,016,476 (GRCm39) I365V probably benign Het
Aldh8a1 T C 10: 21,264,996 (GRCm39) F208L possibly damaging Het
Ap3b1 G A 13: 94,664,673 (GRCm39) V871I unknown Het
Apol7e A T 15: 77,598,552 (GRCm39) R6* probably null Het
Arfgap3 T C 15: 83,191,150 (GRCm39) E456G probably damaging Het
Arhgef1 T C 7: 24,615,461 (GRCm39) L285P probably benign Het
Arhgef7 T A 8: 11,850,861 (GRCm39) C315S probably benign Het
Atp9a A T 2: 168,490,513 (GRCm39) L829Q probably damaging Het
Babam2 T A 5: 31,888,393 (GRCm39) probably null Het
Bptf C T 11: 106,951,384 (GRCm39) R2185H probably damaging Het
Brd9 A C 13: 74,102,697 (GRCm39) M473L probably benign Het
C7 T C 15: 5,041,538 (GRCm39) H456R probably benign Het
Cabp7 C A 11: 4,688,856 (GRCm39) A205S probably damaging Het
Catsperb A G 12: 101,554,293 (GRCm39) I662M probably damaging Het
Ccl21a T C 4: 42,773,906 (GRCm39) M5V probably benign Het
Cdyl G T 13: 36,042,177 (GRCm39) R405L possibly damaging Het
Cep89 T C 7: 35,127,672 (GRCm39) L538P probably damaging Het
Cercam A G 2: 29,762,892 (GRCm39) M209V possibly damaging Het
Chfr T A 5: 110,310,571 (GRCm39) probably null Het
Cntnap5c T A 17: 58,717,226 (GRCm39) Y1269* probably null Het
Cpeb3 T A 19: 37,151,900 (GRCm39) I159F probably benign Het
Cplx2 G A 13: 54,526,663 (GRCm39) E24K possibly damaging Het
Ctsb A G 14: 63,379,752 (GRCm39) T332A probably benign Het
Cyp2j12 T A 4: 96,029,222 (GRCm39) T20S probably benign Het
Dcst2 T A 3: 89,273,993 (GRCm39) H181Q probably damaging Het
Dnm1l T C 16: 16,136,338 (GRCm39) I411V probably benign Het
Dock5 T A 14: 68,046,479 (GRCm39) I768F probably benign Het
Ecel1 A G 1: 87,077,334 (GRCm39) Y625H probably damaging Het
Efl1 T G 7: 82,330,587 (GRCm39) S253R probably damaging Het
Elmod1 T A 9: 53,820,127 (GRCm39) D287V probably damaging Het
Fam171a2 T C 11: 102,329,491 (GRCm39) S423G probably benign Het
Fbxo8 A T 8: 57,022,317 (GRCm39) probably null Het
Flnc G T 6: 29,455,470 (GRCm39) G2040W probably damaging Het
Fras1 C T 5: 96,821,458 (GRCm39) A1405V probably benign Het
Frem3 A C 8: 81,342,392 (GRCm39) I1562L probably benign Het
Fxr1 C T 3: 34,103,369 (GRCm39) A233V probably damaging Het
H1f9 A G 11: 94,859,184 (GRCm39) R160G possibly damaging Het
Helb A G 10: 119,944,799 (GRCm39) F246L probably damaging Het
Hoxb6 G T 11: 96,183,510 (GRCm39) probably benign Het
Hspa2 A G 12: 76,452,884 (GRCm39) E526G probably damaging Het
Hyal5 A T 6: 24,875,983 (GRCm39) probably benign Het
Ints6 A T 14: 62,942,224 (GRCm39) V503E probably benign Het
Ints9 C T 14: 65,269,747 (GRCm39) T479I possibly damaging Het
Jag1 C T 2: 136,926,975 (GRCm39) R928H probably benign Het
Lman2 A T 13: 55,499,338 (GRCm39) I179N probably damaging Het
Lta T C 17: 35,422,805 (GRCm39) S173G probably benign Het
Mki67 G A 7: 135,300,099 (GRCm39) P1645L probably damaging Het
Mrc2 A T 11: 105,183,609 (GRCm39) probably benign Het
Muc4 T A 16: 32,754,689 (GRCm38) M1521K probably benign Het
Mucl3 T A 17: 35,949,312 (GRCm39) T96S probably benign Het
Mylk3 T G 8: 86,081,873 (GRCm39) D438A probably benign Het
Myo7a T A 7: 97,700,833 (GRCm39) probably null Het
Nsmce4a G T 7: 130,135,547 (GRCm39) Q342K probably benign Het
Or10ac1 A G 6: 42,515,053 (GRCm39) I301T possibly damaging Het
Or4c124 T A 2: 89,156,423 (GRCm39) I34F probably benign Het
Or5p60 A G 7: 107,724,068 (GRCm39) L134P probably damaging Het
Or6c65 A T 10: 129,604,136 (GRCm39) Y257F possibly damaging Het
Osbpl6 T A 2: 76,423,730 (GRCm39) F864L probably damaging Het
Pla2g4a A G 1: 149,808,438 (GRCm39) S2P probably benign Het
Plce1 T C 19: 38,640,329 (GRCm39) L525P probably damaging Het
Por A T 5: 135,763,773 (GRCm39) M667L probably benign Het
Psma4 T C 9: 54,862,166 (GRCm39) Y97H probably benign Het
Qtrt1 A T 9: 21,323,753 (GRCm39) H126L probably benign Het
Rab3a A T 8: 71,209,170 (GRCm39) Y102F possibly damaging Het
Rnf212 T A 5: 108,879,555 (GRCm39) H87L probably benign Het
Rnf216 A G 5: 143,076,591 (GRCm39) S98P probably benign Het
Ryr1 G T 7: 28,785,295 (GRCm39) R1806S probably benign Het
Scgb1b3 A T 7: 31,075,262 (GRCm39) L37F probably benign Het
Sds T C 5: 120,617,254 (GRCm39) S37P probably damaging Het
Senp6 A G 9: 80,021,159 (GRCm39) R280G probably damaging Het
She T A 3: 89,761,864 (GRCm39) I441K possibly damaging Het
Slc6a20b A G 9: 123,436,682 (GRCm39) S244P possibly damaging Het
Slc9a3 A T 13: 74,299,004 (GRCm39) Y141F probably damaging Het
Slco6c1 A T 1: 97,009,207 (GRCm39) H426Q probably benign Het
Smc2 C A 4: 52,440,301 (GRCm39) Q16K probably benign Het
Sphkap A C 1: 83,241,547 (GRCm39) V1535G probably benign Het
Stard9 C A 2: 120,532,633 (GRCm39) N2963K probably benign Het
Sycp2 C T 2: 178,035,944 (GRCm39) A248T probably damaging Het
Taar8a T C 10: 23,952,762 (GRCm39) L122P probably damaging Het
Tab1 T A 15: 80,044,445 (GRCm39) V491E probably benign Het
Tanc1 T C 2: 59,636,688 (GRCm39) M857T probably benign Het
Tcirg1 C A 19: 3,949,008 (GRCm39) R427L possibly damaging Het
Tmem109 A C 19: 10,849,124 (GRCm39) *244G probably null Het
Tox2 A G 2: 163,163,435 (GRCm39) Y136C Het
Tubb1 T C 2: 174,298,825 (GRCm39) V169A possibly damaging Het
Ubr3 T C 2: 69,783,886 (GRCm39) probably null Het
Vmn1r225 T A 17: 20,723,059 (GRCm39) F167I probably benign Het
Vmn2r65 A C 7: 84,595,569 (GRCm39) W372G probably damaging Het
Vps13a A T 19: 16,727,537 (GRCm39) D188E probably damaging Het
Vsnl1 G T 12: 11,376,439 (GRCm39) Q149K probably benign Het
Wdr35 A G 12: 9,054,105 (GRCm39) N466S probably benign Het
Ywhae T A 11: 75,650,169 (GRCm39) S210R probably damaging Het
Zfp28 T A 7: 6,397,748 (GRCm39) S728T probably damaging Het
Zfpm1 A G 8: 123,063,698 (GRCm39) D919G unknown Het
Other mutations in Col6a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Col6a2 APN 10 76,450,368 (GRCm39) missense probably damaging 0.96
IGL01995:Col6a2 APN 10 76,440,676 (GRCm39) splice site probably benign
IGL02005:Col6a2 APN 10 76,446,007 (GRCm39) missense probably damaging 1.00
IGL02793:Col6a2 APN 10 76,432,144 (GRCm39) missense possibly damaging 0.96
IGL03144:Col6a2 APN 10 76,450,259 (GRCm39) missense probably benign
piddling UTSW 10 76,443,940 (GRCm39) critical splice donor site probably null
R0137:Col6a2 UTSW 10 76,432,259 (GRCm39) missense probably damaging 1.00
R0371:Col6a2 UTSW 10 76,450,307 (GRCm39) missense probably benign 0.25
R0423:Col6a2 UTSW 10 76,450,751 (GRCm39) missense possibly damaging 0.85
R0554:Col6a2 UTSW 10 76,446,995 (GRCm39) critical splice donor site probably null
R0781:Col6a2 UTSW 10 76,443,574 (GRCm39) missense probably benign 0.00
R0831:Col6a2 UTSW 10 76,439,939 (GRCm39) missense probably damaging 1.00
R1110:Col6a2 UTSW 10 76,443,574 (GRCm39) missense probably benign 0.00
R1499:Col6a2 UTSW 10 76,439,544 (GRCm39) missense probably damaging 1.00
R1502:Col6a2 UTSW 10 76,450,512 (GRCm39) missense probably benign 0.00
R1854:Col6a2 UTSW 10 76,450,646 (GRCm39) missense probably damaging 0.98
R1878:Col6a2 UTSW 10 76,450,622 (GRCm39) missense probably benign 0.00
R3410:Col6a2 UTSW 10 76,439,193 (GRCm39) missense probably benign 0.17
R4110:Col6a2 UTSW 10 76,442,003 (GRCm39) splice site probably null
R4242:Col6a2 UTSW 10 76,443,940 (GRCm39) critical splice donor site probably null
R5562:Col6a2 UTSW 10 76,435,509 (GRCm39) nonsense probably null
R5603:Col6a2 UTSW 10 76,432,603 (GRCm39) missense probably damaging 1.00
R5641:Col6a2 UTSW 10 76,449,112 (GRCm39) missense probably damaging 1.00
R5681:Col6a2 UTSW 10 76,445,085 (GRCm39) splice site probably null
R5707:Col6a2 UTSW 10 76,446,865 (GRCm39) missense possibly damaging 0.95
R5735:Col6a2 UTSW 10 76,435,727 (GRCm39) missense probably benign 0.32
R5789:Col6a2 UTSW 10 76,440,223 (GRCm39) missense probably damaging 1.00
R6134:Col6a2 UTSW 10 76,442,978 (GRCm39) missense probably damaging 0.97
R6156:Col6a2 UTSW 10 76,440,004 (GRCm39) missense possibly damaging 0.92
R6208:Col6a2 UTSW 10 76,450,891 (GRCm39) missense possibly damaging 0.88
R6296:Col6a2 UTSW 10 76,446,883 (GRCm39) missense probably damaging 1.00
R6328:Col6a2 UTSW 10 76,450,212 (GRCm39) missense possibly damaging 0.67
R6329:Col6a2 UTSW 10 76,435,662 (GRCm39) missense probably benign 0.01
R6722:Col6a2 UTSW 10 76,450,392 (GRCm39) missense probably damaging 0.98
R7012:Col6a2 UTSW 10 76,450,511 (GRCm39) missense possibly damaging 0.95
R7091:Col6a2 UTSW 10 76,450,925 (GRCm39) missense unknown
R7655:Col6a2 UTSW 10 76,443,590 (GRCm39) missense probably benign 0.00
R7656:Col6a2 UTSW 10 76,443,590 (GRCm39) missense probably benign 0.00
R7802:Col6a2 UTSW 10 76,439,632 (GRCm39) missense probably damaging 1.00
R7986:Col6a2 UTSW 10 76,450,972 (GRCm39) missense probably benign
R8156:Col6a2 UTSW 10 76,432,625 (GRCm39) missense possibly damaging 0.91
R8233:Col6a2 UTSW 10 76,444,540 (GRCm39) critical splice donor site probably null
R8501:Col6a2 UTSW 10 76,439,391 (GRCm39) missense probably damaging 0.99
R8826:Col6a2 UTSW 10 76,439,433 (GRCm39) missense probably damaging 0.99
R8885:Col6a2 UTSW 10 76,450,741 (GRCm39) nonsense probably null
R8948:Col6a2 UTSW 10 76,446,527 (GRCm39) missense probably damaging 1.00
R8989:Col6a2 UTSW 10 76,440,015 (GRCm39) missense probably damaging 1.00
R9783:Col6a2 UTSW 10 76,440,720 (GRCm39) critical splice acceptor site probably null
RF020:Col6a2 UTSW 10 76,442,043 (GRCm39) critical splice acceptor site probably null
Z1177:Col6a2 UTSW 10 76,432,184 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- TGAACCTCTGACTCTACCATGC -3'
(R):5'- TCCATTGCCTGTGACAAGC -3'

Sequencing Primer
(F):5'- TACCATGCCAGGGGTGAACTTC -3'
(R):5'- TGCGCAACATGACGCTGTTC -3'
Posted On 2019-10-07