Incidental Mutation 'IGL01655:Ctnna3'
ID102978
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctnna3
Ensembl Gene ENSMUSG00000060843
Gene Namecatenin (cadherin associated protein), alpha 3
SynonymsCatna3, Vr22, alphaT-catenin, 4930429L08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.212) question?
Stock #IGL01655
Quality Score
Status
Chromosome10
Chromosomal Location63430098-65003667 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 64873170 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 663 (T663A)
Ref Sequence ENSEMBL: ENSMUSP00000101081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075099] [ENSMUST00000105440] [ENSMUST00000105441]
Predicted Effect probably benign
Transcript: ENSMUST00000075099
AA Change: T663A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: T663A

DomainStartEndE-ValueType
Pfam:Vinculin 17 363 5.1e-66 PFAM
Pfam:Vinculin 324 856 1e-175 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105440
AA Change: T663A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: T663A

DomainStartEndE-ValueType
Pfam:Vinculin 17 363 5.1e-66 PFAM
Pfam:Vinculin 324 856 1e-175 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105441
AA Change: T663A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: T663A

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 G A 3: 97,165,972 probably null Het
Aida T A 1: 183,313,683 Y104* probably null Het
Cd300lg T C 11: 102,047,075 S244P probably benign Het
Ces4a T A 8: 105,147,174 L425Q probably damaging Het
Chrnb3 T C 8: 27,394,174 V298A probably damaging Het
Cnot6 A C 11: 49,677,304 F486C probably damaging Het
Cyp2j12 T A 4: 96,115,577 K267N possibly damaging Het
Dclre1a A T 19: 56,547,057 Y32N probably damaging Het
Ddx21 A G 10: 62,587,491 I644T probably damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Ercc6l2 T A 13: 63,819,752 Y55* probably null Het
Esyt1 A G 10: 128,522,312 I183T possibly damaging Het
Exoc8 T C 8: 124,896,228 T467A probably benign Het
Fance T C 17: 28,322,779 probably benign Het
Fbxo46 C T 7: 19,136,310 R285W probably damaging Het
Ffar2 A T 7: 30,819,587 V176E probably damaging Het
Fnbp1l T C 3: 122,568,749 probably null Het
Gm10288 T C 3: 146,838,810 noncoding transcript Het
Gm12588 T A 11: 121,907,951 Het
Gm9755 G A 8: 67,515,233 noncoding transcript Het
Gpr33 A T 12: 52,023,560 M232K probably damaging Het
Haus5 A T 7: 30,663,294 probably benign Het
Ilvbl A G 10: 78,577,333 probably benign Het
Kifap3 G A 1: 163,796,049 probably benign Het
Klhl26 T C 8: 70,451,883 Y378C probably damaging Het
Lama4 G A 10: 39,060,213 S628N probably benign Het
Lamc3 G A 2: 31,898,278 R150H probably damaging Het
Mrgprx2 A T 7: 48,482,691 C126* probably null Het
Myo3a A T 2: 22,423,326 D798V probably damaging Het
Ndufs1 A T 1: 63,151,557 L44Q probably damaging Het
Nfrkb G T 9: 31,403,459 R525L probably benign Het
Olfr1124 T A 2: 87,434,885 C133S probably damaging Het
Olfr1134 A G 2: 87,656,429 F164S probably damaging Het
Olfr1287 T C 2: 111,449,889 F250L probably benign Het
Olfr1370 T C 13: 21,072,905 Y132C probably damaging Het
Olfr146 T A 9: 39,018,918 I208F probably benign Het
Olfr394 T C 11: 73,887,927 I148M probably benign Het
Olfr458 T C 6: 42,460,540 T160A probably benign Het
Olfr735 A G 14: 50,346,184 M86T probably benign Het
Olfr824 G T 10: 130,126,991 T22K probably benign Het
Pias4 T C 10: 81,155,658 K352E probably benign Het
Pkhd1 G A 1: 20,534,633 Q1153* probably null Het
Pon1 C A 6: 5,175,760 W254C probably damaging Het
Prr14 A G 7: 127,475,767 T447A probably benign Het
Serpinb9g T A 13: 33,495,105 C319* probably null Het
Slc9c1 A T 16: 45,582,972 M801L probably benign Het
Tenm4 C T 7: 96,553,724 T182M probably damaging Het
Ubr4 T A 4: 139,407,796 L813Q probably damaging Het
Uimc1 T C 13: 55,028,704 E667G probably benign Het
Unc79 A G 12: 103,168,287 T2173A probably benign Het
Unkl T C 17: 25,210,848 S142P probably benign Het
Vezt A G 10: 93,996,997 V204A probably benign Het
Vps53 A T 11: 76,063,034 I402N probably damaging Het
Zfyve9 T C 4: 108,642,092 D1343G probably damaging Het
Other mutations in Ctnna3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Ctnna3 APN 10 63566833 missense probably damaging 1.00
IGL00823:Ctnna3 APN 10 63537543 missense possibly damaging 0.68
IGL00963:Ctnna3 APN 10 64945949 missense probably damaging 1.00
IGL01388:Ctnna3 APN 10 63504107 missense possibly damaging 0.67
IGL01783:Ctnna3 APN 10 63820469 missense possibly damaging 0.91
IGL01909:Ctnna3 APN 10 63504131 missense probably benign 0.11
IGL02160:Ctnna3 APN 10 64250698 missense probably benign
IGL02267:Ctnna3 APN 10 64945998 missense probably benign 0.20
IGL02524:Ctnna3 APN 10 64260826 missense possibly damaging 0.68
IGL02707:Ctnna3 APN 10 63504065 missense probably benign
IGL03165:Ctnna3 APN 10 64945941 missense probably damaging 0.98
Bipolar UTSW 10 64873207 missense probably damaging 0.96
Catatonia UTSW 10 64585995 missense probably benign
hebephrenia UTSW 10 64260935 missense probably benign 0.17
multiple UTSW 10 64250768 missense probably damaging 1.00
PIT4687001:Ctnna3 UTSW 10 64834606 missense probably damaging 1.00
R0345:Ctnna3 UTSW 10 63566840 missense probably benign 0.00
R0387:Ctnna3 UTSW 10 64586130 missense probably benign 0.00
R0523:Ctnna3 UTSW 10 64675909 missense probably damaging 0.97
R0647:Ctnna3 UTSW 10 63820424 missense probably benign 0.00
R0676:Ctnna3 UTSW 10 64409261 missense probably benign 0.20
R1102:Ctnna3 UTSW 10 64585995 missense probably benign
R1521:Ctnna3 UTSW 10 64959842 missense probably benign 0.22
R1700:Ctnna3 UTSW 10 63852772 missense probably damaging 1.00
R1874:Ctnna3 UTSW 10 63504107 missense possibly damaging 0.67
R1995:Ctnna3 UTSW 10 63820364 missense probably damaging 0.98
R2088:Ctnna3 UTSW 10 64873207 missense probably damaging 0.96
R2198:Ctnna3 UTSW 10 65002745 missense probably benign 0.00
R4056:Ctnna3 UTSW 10 65002568 missense probably damaging 1.00
R4208:Ctnna3 UTSW 10 64959778 missense probably benign 0.22
R4440:Ctnna3 UTSW 10 64260935 missense probably benign 0.17
R4568:Ctnna3 UTSW 10 63852809 missense possibly damaging 0.56
R4594:Ctnna3 UTSW 10 64586079 missense probably benign 0.32
R4835:Ctnna3 UTSW 10 63581944 missense probably benign 0.01
R4849:Ctnna3 UTSW 10 64873315 missense probably damaging 1.00
R5682:Ctnna3 UTSW 10 64873306 missense probably damaging 0.96
R5777:Ctnna3 UTSW 10 64675885 missense probably benign
R6414:Ctnna3 UTSW 10 64260865 missense probably benign 0.35
R7210:Ctnna3 UTSW 10 64250768 missense probably damaging 1.00
R7220:Ctnna3 UTSW 10 64834589 missense probably benign 0.04
R7680:Ctnna3 UTSW 10 64487550 missense probably benign
R7934:Ctnna3 UTSW 10 64585968 missense probably damaging 1.00
R8006:Ctnna3 UTSW 10 63582011 missense probably benign 0.02
R8272:Ctnna3 UTSW 10 65002598 missense probably damaging 1.00
R8415:Ctnna3 UTSW 10 63504130 missense probably benign 0.05
Z1088:Ctnna3 UTSW 10 63581978 missense probably benign 0.30
Posted On2014-01-21