Incidental Mutation 'IGL00959:Col6a2'
ID 28382
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 # IGL00959
Quality Score
Status
Chromosome 10
Chromosomal Location 76431596-76459464 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76450368 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q02788
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: 69,057,069 (GRCm39) H430L probably damaging Het
Aox4 G T 1: 58,278,333 (GRCm39) V443F probably damaging Het
Bmpr2 A T 1: 59,854,474 (GRCm39) I108F possibly damaging Het
Cflar G A 1: 58,768,321 (GRCm39) probably null Het
Chchd3 A G 6: 32,945,188 (GRCm39) V106A probably benign Het
Chl1 G T 6: 103,686,211 (GRCm39) probably null Het
Clvs2 C T 10: 33,404,459 (GRCm39) M252I probably benign Het
Cntnap5a T A 1: 116,112,057 (GRCm39) L449Q probably benign Het
Cyp2c55 A G 19: 39,026,587 (GRCm39) D398G probably benign Het
Dennd1b T C 1: 139,071,626 (GRCm39) probably benign Het
Dop1a T A 9: 86,369,484 (GRCm39) Y106N probably damaging Het
Dpy19l1 A T 9: 24,334,493 (GRCm39) probably null Het
Extl3 C T 14: 65,314,361 (GRCm39) V274I probably benign Het
Fras1 G A 5: 96,929,140 (GRCm39) R3848H probably damaging Het
Gm11437 A C 11: 84,039,448 (GRCm39) probably benign Het
Gss T A 2: 155,423,871 (GRCm39) D2V probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ilvbl G A 10: 78,419,739 (GRCm39) D548N probably damaging Het
Jmjd6 A T 11: 116,733,202 (GRCm39) D115E possibly damaging Het
Kidins220 T A 12: 25,101,132 (GRCm39) S1110R possibly damaging Het
Kmt2c T A 5: 25,481,227 (GRCm39) I4784F probably damaging Het
Mrpl52 T C 14: 54,664,494 (GRCm39) V11A possibly damaging Het
Myo3b A G 2: 70,144,636 (GRCm39) Y1036C probably damaging Het
Omp T C 7: 97,794,357 (GRCm39) D90G probably damaging Het
Or6c2b T A 10: 128,947,893 (GRCm39) M134L probably benign Het
Osmr T C 15: 6,854,086 (GRCm39) I541V probably benign Het
Ppp2r1a A T 17: 21,181,840 (GRCm39) probably benign Het
Ptpn13 T A 5: 103,665,437 (GRCm39) probably null Het
Rock2 C A 12: 17,028,056 (GRCm39) N1429K probably benign Het
Saxo4 A T 19: 10,454,887 (GRCm39) probably null Het
Slc25a20 T G 9: 108,559,198 (GRCm39) M188R possibly damaging Het
Slc28a1 T C 7: 80,818,816 (GRCm39) probably benign Het
Sult2a6 T C 7: 13,988,634 (GRCm39) Y42C probably damaging Het
Tgfb2 A G 1: 186,436,784 (GRCm39) V63A probably benign Het
Ugt2b38 A T 5: 87,559,682 (GRCm39) N403K probably damaging Het
Vmn2r29 A G 7: 7,244,855 (GRCm39) W340R probably benign Het
Wnt5a C T 14: 28,244,866 (GRCm39) T351M probably damaging Het
Other mutations in Col6a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-04-17