Incidental Mutation 'R0781:Col6a2'
ID 76642
Institutional Source Beutler Lab
Gene Symbol Col6a2
Ensembl Gene ENSMUSG00000020241
Gene Name collagen, type VI, alpha 2
Synonyms Col6a-2
MMRRC Submission 038961-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0781 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 76431596-76459464 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76443574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 497 (E497G)
Ref Sequence ENSEMBL: ENSMUSP00000101053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001181] [ENSMUST00000105413]
AlphaFold Q02788
Predicted Effect probably benign
Transcript: ENSMUST00000001181
AA Change: E497G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001181
Gene: ENSMUSG00000020241
AA Change: E497G

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 benign
Transcript: ENSMUST00000105413
AA Change: E497G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101053
Gene: ENSMUSG00000020241
AA Change: E497G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137365
Meta Mutation Damage Score 0.1646 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 93.2%
Validation Efficiency 97% (67/69)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik G T 17: 79,935,180 (GRCm39) A98S probably benign Het
Acp2 A G 2: 91,038,767 (GRCm39) probably null Het
Akap13 T G 7: 75,261,125 (GRCm39) S447A possibly damaging Het
Alk G A 17: 72,291,740 (GRCm39) probably benign Het
Ankrd55 A G 13: 112,517,767 (GRCm39) probably benign Het
Arhgef39 T C 4: 43,496,834 (GRCm39) T327A probably benign Het
Calhm5 T G 10: 33,972,013 (GRCm39) I141L probably benign Het
Cdan1 G A 2: 120,551,083 (GRCm39) A1103V probably damaging Het
Cdk17 T A 10: 93,074,895 (GRCm39) Y3* probably null Het
Cdon T C 9: 35,367,733 (GRCm39) probably benign Het
Cntn3 T A 6: 102,222,119 (GRCm39) N460I probably benign Het
Cntrl T A 2: 35,050,639 (GRCm39) C985S possibly damaging Het
Crybg1 A G 10: 43,875,089 (GRCm39) M673T possibly damaging Het
Csmd1 A C 8: 15,971,174 (GRCm39) I3047S probably benign Het
Cyp2u1 A G 3: 131,087,258 (GRCm39) I441T possibly damaging Het
Disp2 T C 2: 118,620,920 (GRCm39) S551P probably damaging Het
Dstyk A G 1: 132,381,063 (GRCm39) probably benign Het
Frem1 T C 4: 82,868,557 (GRCm39) S1457G probably damaging Het
Gabbr2 C T 4: 46,718,838 (GRCm39) C613Y probably damaging Het
Gdf7 C A 12: 8,351,555 (GRCm39) probably benign Het
Hnrnpul2 A G 19: 8,804,110 (GRCm39) R570G probably damaging Het
Ift70a1 A T 2: 75,810,320 (GRCm39) C588S probably damaging Het
Iqcf4 T C 9: 106,445,860 (GRCm39) I96V probably benign Het
Iqck G A 7: 118,498,880 (GRCm39) D173N possibly damaging Het
Itpr3 C T 17: 27,329,529 (GRCm39) H1518Y probably benign Het
Kdm5d T A Y: 910,539 (GRCm39) L250H probably damaging Het
Kntc1 C T 5: 123,937,965 (GRCm39) probably benign Het
Lmtk3 T A 7: 45,444,427 (GRCm39) probably benign Het
Lpin3 A G 2: 160,735,999 (GRCm39) D93G probably benign Het
Ncoa6 A T 2: 155,253,440 (GRCm39) probably benign Het
Nudt7 G A 8: 114,862,111 (GRCm39) probably benign Het
Nup160 A G 2: 90,563,563 (GRCm39) probably benign Het
Oit3 G A 10: 59,264,016 (GRCm39) R373C probably damaging Het
Olfml2a A T 2: 38,849,765 (GRCm39) I494L probably damaging Het
Opa3 A G 7: 18,962,524 (GRCm39) probably benign Het
Or51e2 A G 7: 102,392,214 (GRCm39) probably benign Het
Or5ac15 A T 16: 58,940,187 (GRCm39) V82D probably damaging Het
Or9r7 A G 10: 129,962,522 (GRCm39) Y135H probably damaging Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Parp6 G T 9: 59,556,847 (GRCm39) C584F probably damaging Het
Pcgf2 A G 11: 97,582,676 (GRCm39) probably benign Het
Pde3a T C 6: 141,405,042 (GRCm39) probably benign Het
Pitrm1 A G 13: 6,608,280 (GRCm39) D335G probably benign Het
Pkhd1 A T 1: 20,187,708 (GRCm39) N3533K probably benign Het
Pkp4 T C 2: 59,169,109 (GRCm39) L752P probably damaging Het
Plcb3 C A 19: 6,939,281 (GRCm39) E566* probably null Het
Ppef2 T C 5: 92,392,689 (GRCm39) K261R probably benign Het
Prdm14 A G 1: 13,184,585 (GRCm39) S529P probably damaging Het
Prune2 T C 19: 17,102,586 (GRCm39) S2582P probably benign Het
Sardh G A 2: 27,081,931 (GRCm39) T865I possibly damaging Het
Slc26a3 A T 12: 31,515,812 (GRCm39) I571F possibly damaging Het
Slc5a5 A T 8: 71,342,864 (GRCm39) M232K probably benign Het
Slc9a1 T A 4: 133,097,859 (GRCm39) M2K probably benign Het
Spata31e3 A T 13: 50,402,296 (GRCm39) D83E possibly damaging Het
Ss18l1 G A 2: 179,697,647 (GRCm39) S177N possibly damaging Het
Svs5 A T 2: 164,175,507 (GRCm39) I120L probably benign Het
Tcl1b1 G T 12: 105,126,074 (GRCm39) V19F probably damaging Het
Tmem108 C T 9: 103,361,889 (GRCm39) V566M probably damaging Het
Trmu C A 15: 85,763,604 (GRCm39) C9* probably null Het
Vnn1 A T 10: 23,775,499 (GRCm39) I250F possibly damaging Het
Vps13c T A 9: 67,879,285 (GRCm39) Y3409N probably damaging Het
Xrn1 T A 9: 95,873,322 (GRCm39) N695K probably benign Het
Zfp84 T A 7: 29,470,797 (GRCm39) M1K probably null Het
Zfyve26 G A 12: 79,326,841 (GRCm39) R761C probably damaging Het
Zp3r A G 1: 130,505,621 (GRCm39) probably null 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
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
R7422:Col6a2 UTSW 10 76,439,170 (GRCm39) nonsense probably null
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'- ATGACCCTAACTTGATTTGACCAGCTC -3'
(R):5'- AGATCTGTGCCCAGTACCTCTCTTAAC -3'

Sequencing Primer
(F):5'- GTAGCAGAGCCACCACCTTG -3'
(R):5'- TTCTCTCAGACCCAGCCAAG -3'
Posted On 2013-10-16