Incidental Mutation 'R3410:Col6a2'
ID 258476
Institutional Source Beutler Lab
Gene Symbol Col6a2
Ensembl Gene ENSMUSG00000020241
Gene Name collagen, type VI, alpha 2
Synonyms Col6a-2
MMRRC Submission 040628-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3410 (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 76439193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 826 (I826V)
Ref Sequence ENSEMBL: ENSMUSP00000001181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001181] [ENSMUST00000105413]
AlphaFold Q02788
Predicted Effect probably benign
Transcript: ENSMUST00000001181
AA Change: I826V

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000001181
Gene: ENSMUSG00000020241
AA Change: I826V

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: I826V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000101053
Gene: ENSMUSG00000020241
AA Change: I826V

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 0.0627 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (59/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad2 T C 8: 120,342,708 (GRCm39) V418A probably benign Het
Adamts16 T C 13: 70,901,345 (GRCm39) T911A probably benign Het
Adgra1 T C 7: 139,427,619 (GRCm39) F62S possibly damaging Het
Adgra3 A G 5: 50,159,272 (GRCm39) V326A probably damaging Het
Adgrg6 A G 10: 14,316,114 (GRCm39) F569S probably benign Het
Alcam T C 16: 52,130,261 (GRCm39) T30A probably null Het
Arnt2 G A 7: 83,924,655 (GRCm39) R391W probably damaging Het
Ascc3 T C 10: 50,576,196 (GRCm39) V817A probably damaging Het
Atp13a4 G T 16: 29,232,567 (GRCm39) T923K probably damaging Het
Atp5po C T 16: 91,725,794 (GRCm39) R64H probably damaging Het
Ccdc185 T G 1: 182,576,313 (GRCm39) Q125H possibly damaging Het
Ccdc88a T A 11: 29,436,006 (GRCm39) C10S probably damaging Het
Cct2 T C 10: 116,897,968 (GRCm39) N73S probably benign Het
Clock G A 5: 76,377,401 (GRCm39) Q633* probably null Het
Cpsf1 G T 15: 76,485,981 (GRCm39) Y396* probably null Het
Dnah1 A T 14: 30,991,774 (GRCm39) M3076K possibly damaging Het
Dxo A G 17: 35,057,825 (GRCm39) N177D probably damaging Het
Fbxw28 A T 9: 109,167,472 (GRCm39) V95E possibly damaging Het
Galnt6 T C 15: 100,597,018 (GRCm39) N383D probably damaging Het
Gpat2 G A 2: 127,270,211 (GRCm39) V75M probably damaging Het
Grik5 T C 7: 24,762,397 (GRCm39) D198G probably benign Het
Gsdmc4 A G 15: 63,763,895 (GRCm39) S401P probably benign Het
Gspt1 A T 16: 11,047,109 (GRCm39) D435E probably damaging Het
Hsf2 T C 10: 57,381,378 (GRCm39) S266P probably damaging Het
Jade2 T C 11: 51,708,050 (GRCm39) D721G probably benign Het
Klhl7 G T 5: 24,343,319 (GRCm39) V212L probably damaging Het
Klra17 T A 6: 129,851,809 (GRCm39) N21I probably damaging Het
L3mbtl3 T C 10: 26,215,197 (GRCm39) N196S unknown Het
Lama3 G C 18: 12,546,915 (GRCm39) probably null Het
Mcm5 T C 8: 75,848,272 (GRCm39) M507T possibly damaging Het
Mycbp2 T C 14: 103,372,553 (GRCm39) R814G probably damaging Het
Nlrp4b A G 7: 10,449,456 (GRCm39) E186G probably damaging Het
Nlrp4c A G 7: 6,095,569 (GRCm39) K816E possibly damaging Het
Nod1 G T 6: 54,921,902 (GRCm39) R139S probably benign Het
Nudcd1 T C 15: 44,284,207 (GRCm39) M60V probably benign Het
Or5b101 G C 19: 13,005,411 (GRCm39) A94G probably benign Het
Or5p63 G A 7: 107,811,490 (GRCm39) P82L possibly damaging Het
Or5p69 A T 7: 107,967,551 (GRCm39) I285F possibly damaging Het
Or8g28 G T 9: 39,169,897 (GRCm39) Q24K possibly damaging Het
Ovol2 A G 2: 144,159,796 (GRCm39) S82P probably benign Het
Ppl T C 16: 4,925,381 (GRCm39) E86G possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ripk4 T C 16: 97,545,157 (GRCm39) T497A probably benign Het
Scml4 A G 10: 42,833,667 (GRCm39) Y327C probably damaging Het
Serpina3n A G 12: 104,377,536 (GRCm39) E263G possibly damaging Het
Six4 A G 12: 73,159,657 (GRCm39) F101S probably damaging Het
Sltm T G 9: 70,493,240 (GRCm39) L728V probably damaging Het
Sptb T G 12: 76,657,589 (GRCm39) K1311Q possibly damaging Het
Sycp1 T C 3: 102,748,357 (GRCm39) K812E possibly damaging Het
Tenm4 T C 7: 96,501,737 (GRCm39) Y1314H probably damaging Het
Tmem67 A T 4: 12,073,952 (GRCm39) M288K probably benign Het
Toporsl T C 4: 52,610,970 (GRCm39) S288P probably benign Het
Ttn A C 2: 76,772,749 (GRCm39) N2415K possibly damaging Het
Vmn2r65 T C 7: 84,595,896 (GRCm39) I263V probably benign Het
Vmn2r89 A T 14: 51,693,628 (GRCm39) E326V probably damaging Het
Wdr81 A G 11: 75,343,758 (GRCm39) I503T probably damaging 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
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'- GAACCTCTGACTCTACCATGC -3'
(R):5'- ACTCCATTGCCTGTGACAAGC -3'

Sequencing Primer
(F):5'- TACCATGCCAGGGGTGAACTTC -3'
(R):5'- GCAAGTGCGCAACATGAC -3'
Posted On 2015-01-23