Incidental Mutation 'IGL02707:Ctnna3'
ID304393
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 #IGL02707
Quality Score
Status
Chromosome10
Chromosomal Location63430098-65003667 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 63504065 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 10 (N10S)
Ref Sequence ENSEMBL: ENSMUSP00000101081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075099] [ENSMUST00000105440] [ENSMUST00000105441]
Predicted Effect probably benign
Transcript: ENSMUST00000075099
AA Change: N10S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: N10S

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: N10S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: N10S

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: N10S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: N10S

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,258,645 T149A probably benign Het
4932414N04Rik A C 2: 68,731,130 Q267P possibly damaging Het
Actr5 T C 2: 158,636,697 V489A probably benign Het
Adam26b T C 8: 43,519,858 probably benign Het
Aff4 A G 11: 53,399,740 N509S probably benign Het
Arhgap22 C T 14: 33,363,272 probably benign Het
Arhgap9 C A 10: 127,329,607 H628Q probably damaging Het
Asap1 A T 15: 64,129,274 I486N probably damaging Het
Asb15 A T 6: 24,558,788 probably benign Het
Avil A G 10: 127,006,562 D70G probably damaging Het
Cct6b T C 11: 82,754,954 probably benign Het
Cep63 A T 9: 102,586,981 I717K probably damaging Het
Chd4 G T 6: 125,108,767 A875S probably damaging Het
Col4a4 A T 1: 82,493,516 M706K unknown Het
Cr1l T C 1: 195,123,711 T155A probably benign Het
Cubn A G 2: 13,446,032 V854A probably damaging Het
Dgkh T C 14: 78,585,651 T845A possibly damaging Het
F10 G A 8: 13,048,252 A152T probably damaging Het
Gabrg3 C A 7: 56,982,691 E170* probably null Het
Heatr5a A G 12: 51,921,366 V829A probably benign Het
Htt T A 5: 34,829,881 probably null Het
Icam4 T C 9: 21,030,474 Y257H possibly damaging Het
Jph1 A G 1: 17,004,451 S448P probably benign Het
Kansl1l G A 1: 66,773,445 L125F probably damaging Het
Kifc1 A T 17: 33,881,493 C46* probably null Het
Lce3b A G 3: 92,933,886 D96G unknown Het
Mab21l1 A T 3: 55,783,084 I31F possibly damaging Het
Mctp2 A G 7: 72,259,341 Y75H possibly damaging Het
Mesp2 A G 7: 79,811,526 I200V probably benign Het
Msr1 T C 8: 39,632,829 probably benign Het
Mtfr2 C T 10: 20,348,338 T6I probably benign Het
Myo5b T C 18: 74,695,367 probably benign Het
Myoc T A 1: 162,639,460 I66N probably benign Het
Olfr1242 A T 2: 89,493,827 Y162N probably damaging Het
Olfr1355 T C 10: 78,879,925 L251S probably damaging Het
Olfr149 T C 9: 39,702,641 I43V probably damaging Het
Olfr639 A C 7: 104,012,402 L100W probably damaging Het
Olfr659 T C 7: 104,670,929 C76R probably damaging Het
Olfr667 A G 7: 104,916,652 C215R probably damaging Het
Per2 T C 1: 91,450,728 D33G possibly damaging Het
Pknox1 A G 17: 31,602,819 I295V possibly damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Rhot2 A G 17: 25,844,296 S19P probably damaging Het
Rps6kb1 C A 11: 86,535,410 probably null Het
Serpinb1b C T 13: 33,091,665 T194I probably benign Het
Smarcad1 T A 6: 65,052,806 probably benign Het
Stxbp4 A G 11: 90,537,933 S449P probably benign Het
Thrb A C 14: 18,026,721 I275L probably benign Het
Tjp1 T A 7: 65,329,683 K365* probably null Het
Tjp1 T A 7: 65,329,682 K365I possibly damaging Het
Tm4sf4 C A 3: 57,426,518 C75* probably null Het
Tmem131 T C 1: 36,825,479 T558A probably benign Het
Txndc16 T C 14: 45,162,273 T408A probably benign Het
Ube2j1 T C 4: 33,038,206 L38P possibly damaging Het
Urb2 T C 8: 124,030,686 I1044T probably benign 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
IGL01655:Ctnna3 APN 10 64873170 missense probably benign 0.01
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
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 On2015-04-16