Incidental Mutation 'IGL00963:Ctnna3'
ID 28397
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctnna3
Ensembl Gene ENSMUSG00000060843
Gene Name catenin alpha 3
Synonyms 4930429L08Rik, catenin (cadherin associated protein), alpha 3, alphaT-catenin, Vr22, Catna3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.255) question?
Stock # IGL00963
Quality Score
Status
Chromosome 10
Chromosomal Location 63265877-64839446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64781728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 730 (D730E)
Ref Sequence ENSEMBL: ENSMUSP00000101081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075099] [ENSMUST00000105440] [ENSMUST00000105441]
AlphaFold Q65CL1
Predicted Effect probably damaging
Transcript: ENSMUST00000075099
AA Change: D730E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: D730E

DomainStartEndE-ValueType
Pfam:Vinculin 17 363 5.1e-66 PFAM
Pfam:Vinculin 324 856 1e-175 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105440
AA Change: D730E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: D730E

DomainStartEndE-ValueType
Pfam:Vinculin 17 363 5.1e-66 PFAM
Pfam:Vinculin 324 856 1e-175 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105441
AA Change: D730E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: D730E

DomainStartEndE-ValueType
Pfam:Vinculin 17 363 5.1e-66 PFAM
Pfam:Vinculin 324 856 1e-175 PFAM
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 a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased heart weight, increased ventricle size, dilated cardiomyopathy and increased susceptibility to ischemia-induced arrhythmias and mortality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI606181 A C 19: 41,582,228 (GRCm39) probably benign Het
Alyref2 C T 1: 171,331,816 (GRCm39) Q198* probably null Het
Ankrd13a T C 5: 114,939,863 (GRCm39) S497P probably damaging Het
Chd5 C A 4: 152,467,395 (GRCm39) N1644K probably damaging Het
Col13a1 T C 10: 61,674,476 (GRCm39) probably benign Het
Dock11 A G X: 35,296,035 (GRCm39) Q1197R possibly damaging Het
Drosha T A 15: 12,926,083 (GRCm39) I1224N probably damaging Het
Dsc1 T C 18: 20,245,043 (GRCm39) K42R probably null Het
Engase A G 11: 118,373,824 (GRCm39) D322G probably damaging Het
Ephb2 T C 4: 136,386,262 (GRCm39) D829G probably benign Het
Fgfr2 C T 7: 129,830,491 (GRCm39) M47I probably damaging Het
Gad1-ps G T 10: 99,281,310 (GRCm39) noncoding transcript Het
Gatb A G 3: 85,526,255 (GRCm39) S378G probably benign Het
Hivep2 G A 10: 14,005,091 (GRCm39) S563N probably damaging Het
Irs2 G A 8: 11,055,867 (GRCm39) A855V probably benign Het
Jagn1 T C 6: 113,424,436 (GRCm39) S103P probably damaging Het
Kdm6a T A X: 18,112,665 (GRCm39) probably benign Het
Lmcd1 T C 6: 112,306,895 (GRCm39) C356R probably damaging Het
Mefv T A 16: 3,533,584 (GRCm39) Y229F possibly damaging Het
Myef2 T C 2: 124,957,395 (GRCm39) Y120C probably damaging Het
Myo9a T G 9: 59,807,655 (GRCm39) I2074S probably damaging Het
Nhs A G X: 160,630,045 (GRCm39) S337P probably damaging Het
Nphp4 T G 4: 152,622,318 (GRCm39) H566Q probably benign Het
Or2d2 A T 7: 106,728,272 (GRCm39) C109* probably null Het
Or52z13 T A 7: 103,246,844 (GRCm39) probably null Het
Pabpc2 C A 18: 39,908,390 (GRCm39) Q552K possibly damaging Het
Podn T A 4: 107,879,371 (GRCm39) N104I probably damaging Het
Rit1 T C 3: 88,633,738 (GRCm39) V94A probably damaging Het
Scn7a A T 2: 66,534,289 (GRCm39) probably benign Het
Septin4 A T 11: 87,474,199 (GRCm39) K29M possibly damaging Het
Sowahb T C 5: 93,191,870 (GRCm39) Y283C probably damaging Het
Srbd1 A T 17: 86,422,637 (GRCm39) W460R probably damaging Het
Svep1 T A 4: 58,072,791 (GRCm39) K2173* probably null Het
Tlr6 T C 5: 65,112,019 (GRCm39) N296S possibly damaging Het
Trpm8 A G 1: 88,307,549 (GRCm39) D1073G possibly damaging Het
Ttc28 A T 5: 111,434,255 (GRCm39) K2399* probably null Het
Ttn A G 2: 76,717,627 (GRCm39) probably benign Het
Uroc1 C T 6: 90,315,810 (GRCm39) T189I probably benign Het
Usp18 C T 6: 121,232,341 (GRCm39) Q122* probably null Het
Zfp420 T C 7: 29,574,518 (GRCm39) I246T probably damaging Het
Zfp644 T C 5: 106,786,503 (GRCm39) probably null Het
Zfp871 A T 17: 32,993,726 (GRCm39) V483E probably benign Het
Other mutations in Ctnna3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Ctnna3 APN 10 63,402,612 (GRCm39) missense probably damaging 1.00
IGL00823:Ctnna3 APN 10 63,373,322 (GRCm39) missense possibly damaging 0.68
IGL01388:Ctnna3 APN 10 63,339,886 (GRCm39) missense possibly damaging 0.67
IGL01655:Ctnna3 APN 10 64,708,949 (GRCm39) missense probably benign 0.01
IGL01783:Ctnna3 APN 10 63,656,248 (GRCm39) missense possibly damaging 0.91
IGL01909:Ctnna3 APN 10 63,339,910 (GRCm39) missense probably benign 0.11
IGL02160:Ctnna3 APN 10 64,086,477 (GRCm39) missense probably benign
IGL02267:Ctnna3 APN 10 64,781,777 (GRCm39) missense probably benign 0.20
IGL02524:Ctnna3 APN 10 64,096,605 (GRCm39) missense possibly damaging 0.68
IGL02707:Ctnna3 APN 10 63,339,844 (GRCm39) missense probably benign
IGL03165:Ctnna3 APN 10 64,781,720 (GRCm39) missense probably damaging 0.98
Bipolar UTSW 10 64,708,986 (GRCm39) missense probably damaging 0.96
Catatonia UTSW 10 64,421,774 (GRCm39) missense probably benign
hebephrenia UTSW 10 64,096,714 (GRCm39) missense probably benign 0.17
multiple UTSW 10 64,086,547 (GRCm39) missense probably damaging 1.00
PIT4687001:Ctnna3 UTSW 10 64,670,385 (GRCm39) missense probably damaging 1.00
R0345:Ctnna3 UTSW 10 63,402,619 (GRCm39) missense probably benign 0.00
R0387:Ctnna3 UTSW 10 64,421,909 (GRCm39) missense probably benign 0.00
R0523:Ctnna3 UTSW 10 64,511,688 (GRCm39) missense probably damaging 0.97
R0647:Ctnna3 UTSW 10 63,656,203 (GRCm39) missense probably benign 0.00
R0676:Ctnna3 UTSW 10 64,245,040 (GRCm39) missense probably benign 0.20
R1102:Ctnna3 UTSW 10 64,421,774 (GRCm39) missense probably benign
R1521:Ctnna3 UTSW 10 64,795,621 (GRCm39) missense probably benign 0.22
R1700:Ctnna3 UTSW 10 63,688,551 (GRCm39) missense probably damaging 1.00
R1874:Ctnna3 UTSW 10 63,339,886 (GRCm39) missense possibly damaging 0.67
R1995:Ctnna3 UTSW 10 63,656,143 (GRCm39) missense probably damaging 0.98
R2088:Ctnna3 UTSW 10 64,708,986 (GRCm39) missense probably damaging 0.96
R2198:Ctnna3 UTSW 10 64,838,524 (GRCm39) missense probably benign 0.00
R4056:Ctnna3 UTSW 10 64,838,347 (GRCm39) missense probably damaging 1.00
R4208:Ctnna3 UTSW 10 64,795,557 (GRCm39) missense probably benign 0.22
R4440:Ctnna3 UTSW 10 64,096,714 (GRCm39) missense probably benign 0.17
R4568:Ctnna3 UTSW 10 63,688,588 (GRCm39) missense possibly damaging 0.56
R4594:Ctnna3 UTSW 10 64,421,858 (GRCm39) missense probably benign 0.32
R4835:Ctnna3 UTSW 10 63,417,723 (GRCm39) missense probably benign 0.01
R4849:Ctnna3 UTSW 10 64,709,094 (GRCm39) missense probably damaging 1.00
R5682:Ctnna3 UTSW 10 64,709,085 (GRCm39) missense probably damaging 0.96
R5777:Ctnna3 UTSW 10 64,511,664 (GRCm39) missense probably benign
R6414:Ctnna3 UTSW 10 64,096,644 (GRCm39) missense probably benign 0.35
R7210:Ctnna3 UTSW 10 64,086,547 (GRCm39) missense probably damaging 1.00
R7220:Ctnna3 UTSW 10 64,670,368 (GRCm39) missense probably benign 0.04
R7680:Ctnna3 UTSW 10 64,323,329 (GRCm39) missense probably benign
R7934:Ctnna3 UTSW 10 64,421,747 (GRCm39) missense probably damaging 1.00
R8006:Ctnna3 UTSW 10 63,417,790 (GRCm39) missense probably benign 0.02
R8272:Ctnna3 UTSW 10 64,838,377 (GRCm39) missense probably damaging 1.00
R8415:Ctnna3 UTSW 10 63,339,909 (GRCm39) missense probably benign 0.05
R9202:Ctnna3 UTSW 10 64,708,947 (GRCm39) missense probably damaging 1.00
Z1088:Ctnna3 UTSW 10 63,417,757 (GRCm39) missense probably benign 0.30
Posted On 2013-04-17