Incidental Mutation 'IGL01995:Col6a2'
ID 183682
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col6a2
Ensembl Gene ENSMUSG00000020241
Gene Name collagen, type VI, alpha 2
Synonyms Col6a-2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01995
Quality Score
Status
Chromosome 10
Chromosomal Location 76431596-76459464 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 76440676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001181] [ENSMUST00000105413]
AlphaFold Q02788
Predicted Effect probably benign
Transcript: ENSMUST00000001181
SMART Domains Protein: ENSMUSP00000001181
Gene: ENSMUSG00000020241

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
SMART Domains Protein: ENSMUSP00000101053
Gene: ENSMUSG00000020241

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
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T C 14: 44,401,302 (GRCm39) probably benign Het
AI661453 C A 17: 47,779,442 (GRCm39) probably benign Het
Arhgap29 G A 3: 121,807,977 (GRCm39) V1052I probably benign Het
Arhgef17 A G 7: 100,577,862 (GRCm39) S1029P probably benign Het
Arpc5l T C 2: 38,898,226 (GRCm39) S7P probably damaging Het
Asf1b A G 8: 84,682,533 (GRCm39) I26V probably benign Het
Cep95 T C 11: 106,697,197 (GRCm39) L240P probably damaging Het
Cnmd A G 14: 79,879,508 (GRCm39) probably benign Het
Cntn3 T A 6: 102,180,846 (GRCm39) N783I probably damaging Het
Col9a2 T C 4: 120,907,607 (GRCm39) probably null Het
Cry2 T C 2: 92,254,977 (GRCm39) E126G probably benign Het
Cxcl15 T C 5: 90,942,467 (GRCm39) V13A possibly damaging Het
Dbr1 A G 9: 99,465,952 (GRCm39) D510G probably benign Het
Dct A G 14: 118,271,655 (GRCm39) F392L probably damaging Het
Dgkz A G 2: 91,764,395 (GRCm39) probably benign Het
Dhrs7b A G 11: 60,721,541 (GRCm39) I2V probably benign Het
Efnb3 A T 11: 69,447,730 (GRCm39) probably null Het
Fbf1 T A 11: 116,041,846 (GRCm39) R565S probably null Het
Gimap5 T C 6: 48,729,727 (GRCm39) I99T probably damaging Het
Gm9912 A G 3: 148,891,085 (GRCm39) L16P unknown Het
Gpr17 A G 18: 32,080,187 (GRCm39) L292P probably damaging Het
Hdac10 C T 15: 89,011,801 (GRCm39) V129M probably damaging Het
Mfap3l A G 8: 61,124,498 (GRCm39) I247V possibly damaging Het
Mtus1 A T 8: 41,537,457 (GRCm39) S86R probably damaging Het
Mylk3 A G 8: 86,085,890 (GRCm39) S55P possibly damaging Het
Nol6 A T 4: 41,118,567 (GRCm39) C745S probably damaging Het
Nudt13 A T 14: 20,356,385 (GRCm39) E103D probably damaging Het
Or10ag59 A G 2: 87,405,806 (GRCm39) Y126C probably damaging Het
Or1e35 A G 11: 73,798,261 (GRCm39) I19T possibly damaging Het
Pdzk1 G T 3: 96,764,687 (GRCm39) A324S probably benign Het
Pofut2 T C 10: 77,096,515 (GRCm39) V80A possibly damaging Het
Rasip1 A G 7: 45,286,240 (GRCm39) D821G probably damaging Het
Rnf10 T A 5: 115,389,161 (GRCm39) K273* probably null Het
Slc4a9 A G 18: 36,672,828 (GRCm39) M811V possibly damaging Het
Smchd1 T C 17: 71,751,015 (GRCm39) D301G probably damaging Het
Tm9sf2 A T 14: 122,380,883 (GRCm39) T159S probably benign Het
Tom1l1 G A 11: 90,540,687 (GRCm39) P327S probably damaging Het
Trim3 A G 7: 105,267,689 (GRCm39) probably benign Het
Trpm6 A C 19: 18,807,691 (GRCm39) probably benign Het
Ttc13 A C 8: 125,415,621 (GRCm39) L245R probably damaging Het
Txnrd1 T A 10: 82,713,118 (GRCm39) V60E probably damaging Het
Ung T A 5: 114,274,447 (GRCm39) D173E probably benign Het
Zbtb5 A G 4: 44,995,294 (GRCm39) V30A probably damaging Het
Other mutations in Col6a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Col6a2 APN 10 76,450,368 (GRCm39) missense probably damaging 0.96
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
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
Posted On 2014-05-07