Incidental Mutation 'IGL00959:Col6a2'
ID28382
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col6a2
Ensembl Gene ENSMUSG00000020241
Gene Namecollagen, type VI, alpha 2
SynonymsCol6a-2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00959
Quality Score
Status
Chromosome10
Chromosomal Location76595762-76623630 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 76614534 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 188 (I188F)
Ref Sequence ENSEMBL: ENSMUSP00000101053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001181] [ENSMUST00000105413]
Predicted Effect possibly damaging
Transcript: ENSMUST00000001181
AA Change: I188F

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000001181
Gene: ENSMUSG00000020241
AA Change: I188F

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 damaging
Transcript: ENSMUST00000105413
AA Change: I188F

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101053
Gene: ENSMUSG00000020241
AA Change: I188F

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b A T 11: 69,166,243 H430L probably damaging Het
Aox4 G T 1: 58,239,174 V443F probably damaging Het
Bmpr2 A T 1: 59,815,315 I108F possibly damaging Het
Cflar G A 1: 58,729,162 probably null Het
Chchd3 A G 6: 32,968,253 V106A probably benign Het
Chl1 G T 6: 103,709,250 probably null Het
Clvs2 C T 10: 33,528,463 M252I probably benign Het
Cntnap5a T A 1: 116,184,327 L449Q probably benign Het
Cyp2c55 A G 19: 39,038,143 D398G probably benign Het
Dennd1b T C 1: 139,143,888 probably benign Het
Dopey1 T A 9: 86,487,431 Y106N probably damaging Het
Dpy19l1 A T 9: 24,423,197 probably null Het
Extl3 C T 14: 65,076,912 V274I probably benign Het
Fras1 G A 5: 96,781,281 R3848H probably damaging Het
Gm11437 A C 11: 84,148,622 probably benign Het
Gss T A 2: 155,581,951 D2V probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ilvbl G A 10: 78,583,905 D548N probably damaging Het
Jmjd6 A T 11: 116,842,376 D115E possibly damaging Het
Kidins220 T A 12: 25,051,133 S1110R possibly damaging Het
Kmt2c T A 5: 25,276,229 I4784F probably damaging Het
Mrpl52 T C 14: 54,427,037 V11A possibly damaging Het
Myo3b A G 2: 70,314,292 Y1036C probably damaging Het
Olfr769 T A 10: 129,112,024 M134L probably benign Het
Omp T C 7: 98,145,150 D90G probably damaging Het
Osmr T C 15: 6,824,605 I541V probably benign Het
Ppp1r32 A T 19: 10,477,523 probably null Het
Ppp2r1a A T 17: 20,961,578 probably benign Het
Ptpn13 T A 5: 103,517,571 probably null Het
Rock2 C A 12: 16,978,055 N1429K probably benign Het
Slc25a20 T G 9: 108,681,999 M188R possibly damaging Het
Slc28a1 T C 7: 81,169,068 probably benign Het
Sult2a6 T C 7: 14,254,709 Y42C probably damaging Het
Tgfb2 A G 1: 186,704,587 V63A probably benign Het
Ugt2b38 A T 5: 87,411,823 N403K probably damaging Het
Vmn2r29 A G 7: 7,241,856 W340R probably benign Het
Wnt5a C T 14: 28,522,909 T351M probably damaging Het
Other mutations in Col6a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01995:Col6a2 APN 10 76604842 splice site probably benign
IGL02005:Col6a2 APN 10 76610173 missense probably damaging 1.00
IGL02793:Col6a2 APN 10 76596310 missense possibly damaging 0.96
IGL03144:Col6a2 APN 10 76614425 missense probably benign
piddling UTSW 10 76608106 critical splice donor site probably null
R0137:Col6a2 UTSW 10 76596425 missense probably damaging 1.00
R0371:Col6a2 UTSW 10 76614473 missense probably benign 0.25
R0423:Col6a2 UTSW 10 76614917 missense possibly damaging 0.85
R0554:Col6a2 UTSW 10 76611161 critical splice donor site probably null
R0781:Col6a2 UTSW 10 76607740 missense probably benign 0.00
R0831:Col6a2 UTSW 10 76604105 missense probably damaging 1.00
R1110:Col6a2 UTSW 10 76607740 missense probably benign 0.00
R1499:Col6a2 UTSW 10 76603710 missense probably damaging 1.00
R1502:Col6a2 UTSW 10 76614678 missense probably benign 0.00
R1854:Col6a2 UTSW 10 76614812 missense probably damaging 0.98
R1878:Col6a2 UTSW 10 76614788 missense probably benign 0.00
R3410:Col6a2 UTSW 10 76603359 missense probably benign 0.17
R4110:Col6a2 UTSW 10 76606169 splice site probably null
R4242:Col6a2 UTSW 10 76608106 critical splice donor site probably null
R5562:Col6a2 UTSW 10 76599675 nonsense probably null
R5603:Col6a2 UTSW 10 76596769 missense probably damaging 1.00
R5641:Col6a2 UTSW 10 76613278 missense probably damaging 1.00
R5681:Col6a2 UTSW 10 76609251 splice site probably null
R5707:Col6a2 UTSW 10 76611031 missense possibly damaging 0.95
R5735:Col6a2 UTSW 10 76599893 missense probably benign 0.32
R5789:Col6a2 UTSW 10 76604389 missense probably damaging 1.00
R6134:Col6a2 UTSW 10 76607144 missense probably damaging 0.97
R6156:Col6a2 UTSW 10 76604170 missense possibly damaging 0.92
R6208:Col6a2 UTSW 10 76615057 missense possibly damaging 0.88
R6296:Col6a2 UTSW 10 76611049 missense probably damaging 1.00
R6328:Col6a2 UTSW 10 76614378 missense possibly damaging 0.67
R6329:Col6a2 UTSW 10 76599828 missense probably benign 0.01
R6722:Col6a2 UTSW 10 76614558 missense probably damaging 0.98
R7012:Col6a2 UTSW 10 76614677 missense possibly damaging 0.95
R7091:Col6a2 UTSW 10 76615091 missense unknown
R7422:Col6a2 UTSW 10 76603336 nonsense probably null
R7655:Col6a2 UTSW 10 76607756 missense probably benign 0.00
R7656:Col6a2 UTSW 10 76607756 missense probably benign 0.00
R7802:Col6a2 UTSW 10 76603798 missense probably damaging 1.00
R8156:Col6a2 UTSW 10 76596791 missense possibly damaging 0.91
R8233:Col6a2 UTSW 10 76608706 critical splice donor site probably null
RF020:Col6a2 UTSW 10 76606209 critical splice acceptor site probably null
Z1177:Col6a2 UTSW 10 76596350 missense possibly damaging 0.90
Posted On2013-04-17