Incidental Mutation 'IGL02267:Ctnna3'
ID286954
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: 0.237) question?
Stock #IGL02267
Quality Score
Status
Chromosome10
Chromosomal Location63430098-65003667 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 64945998 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 747 (V747F)
Ref Sequence ENSEMBL: ENSMUSP00000101081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075099] [ENSMUST00000105440] [ENSMUST00000105441]
Predicted Effect probably benign
Transcript: ENSMUST00000075099
AA Change: V747F

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: V747F

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: V747F

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: V747F

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: V747F

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: V747F

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,792,678 Q929R probably benign Het
Aplf A T 6: 87,658,964 D122E probably damaging Het
Atp2a3 T A 11: 72,987,984 L874Q probably damaging Het
Atp2b2 A T 6: 113,793,730 L406Q probably damaging Het
Atp6v1b1 A G 6: 83,756,909 D374G probably benign Het
Bcas1 T A 2: 170,378,788 R239* probably null Het
Bhmt2 A G 13: 93,669,346 V56A probably damaging Het
Cage1 T C 13: 38,023,257 E204G probably damaging Het
Ccdc157 G A 11: 4,144,035 A532V probably benign Het
Cd300lb G A 11: 114,928,477 R109* probably null Het
Clca4c-ps T C 3: 144,879,755 noncoding transcript Het
Cyp2c29 A T 19: 39,330,422 I488F probably benign Het
Cyp3a25 T C 5: 145,998,552 M85V possibly damaging Het
Dnah7b T A 1: 46,226,930 Y2220N probably damaging Het
Espl1 A G 15: 102,315,664 I1217V probably benign Het
Exoc2 A G 13: 30,815,321 S918P probably benign Het
Fer1l4 T A 2: 156,031,252 I1303F possibly damaging Het
Gm28047 A T 15: 102,547,227 I234K probably damaging Het
Gm4951 T G 18: 60,246,398 V335G probably damaging Het
Gpcpd1 A G 2: 132,568,710 V19A probably damaging Het
Gprin3 A G 6: 59,354,473 V283A probably benign Het
Grb14 A G 2: 64,953,616 Y56H probably damaging Het
Greb1 A G 12: 16,717,208 F331S probably benign Het
Jkamp A G 12: 72,094,817 Y198C probably damaging Het
Klk1b11 G T 7: 43,999,741 C234F probably damaging Het
Nacad T C 11: 6,602,649 T181A probably benign Het
Olfr165 A T 16: 19,407,164 L285Q possibly damaging Het
Olfr382 A G 11: 73,516,549 S217P probably benign Het
Olfr987 T A 2: 85,331,121 Y259F probably damaging Het
Pitpnm3 A T 11: 72,071,448 I227N probably benign Het
Pnn A G 12: 59,070,209 E189G probably damaging Het
Pnpla2 C A 7: 141,458,209 P197T probably damaging Het
Pnpla6 A G 8: 3,517,327 T62A probably benign Het
Ptprq G T 10: 107,646,558 D1051E probably damaging Het
Rag2 C T 2: 101,630,031 R229C probably damaging Het
Serinc1 A T 10: 57,523,108 I196N probably damaging Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc26a9 T C 1: 131,752,845 C43R probably damaging Het
Slc2a3 A T 6: 122,739,972 Y44N probably benign Het
Smad5 T G 13: 56,735,790 probably benign Het
Sugct C A 13: 17,644,865 V132F possibly damaging Het
Supt6 T C 11: 78,226,204 E568G possibly damaging Het
Tfpt T C 7: 3,628,983 T43A probably damaging Het
Timp4 A T 6: 115,247,279 V143E possibly damaging Het
Tns1 T C 1: 73,992,131 D275G possibly damaging Het
Trib1 A G 15: 59,651,600 E161G probably damaging Het
Trpc7 A T 13: 56,860,930 L308Q probably damaging Het
Ush1c A T 7: 46,209,298 V522E possibly damaging Het
Usp28 T C 9: 49,023,965 V449A probably damaging Het
Vmn1r82 A G 7: 12,305,346 Y64C probably damaging Het
Wwox G A 8: 114,712,065 M290I 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
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
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
R8006:Ctnna3 UTSW 10 63582011 missense probably benign 0.02
Z1088:Ctnna3 UTSW 10 63581978 missense probably benign 0.30
Posted On2015-04-16