Incidental Mutation 'R2088:Ctnna3'
ID 231595
Institutional Source Beutler Lab
Gene Symbol Ctnna3
Ensembl Gene ENSMUSG00000060843
Gene Name catenin alpha 3
Synonyms 4930429L08Rik, catenin (cadherin associated protein), alpha 3, alphaT-catenin, Vr22, Catna3
MMRRC Submission 040093-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.255) question?
Stock # R2088 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 63265877-64839446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64708986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 675 (E675G)
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: E675G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: E675G

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: E675G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: E675G

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: E675G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: E675G

DomainStartEndE-ValueType
Pfam:Vinculin 17 363 5.1e-66 PFAM
Pfam:Vinculin 324 856 1e-175 PFAM
Meta Mutation Damage Score 0.1724 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (66/68)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,333,265 (GRCm39) probably benign Het
Ano5 T A 7: 51,237,454 (GRCm39) N759K possibly damaging Het
Arhgef10 A G 8: 15,033,898 (GRCm39) T1072A possibly damaging Het
BC107364 T C 3: 96,341,745 (GRCm39) T93A unknown Het
Canx C T 11: 50,201,217 (GRCm39) E97K possibly damaging Het
Casp8ap2 T C 4: 32,631,126 (GRCm39) L62P probably damaging Het
Cbfa2t3 C T 8: 123,364,725 (GRCm39) probably benign Het
Cmklr2 A T 1: 63,222,811 (GRCm39) probably null Het
Cmya5 A T 13: 93,229,320 (GRCm39) S1923T probably damaging Het
Cntnap1 T A 11: 101,073,373 (GRCm39) I618N probably damaging Het
Cox17 C G 16: 38,167,542 (GRCm39) P27R probably damaging Het
Cul9 A G 17: 46,837,575 (GRCm39) L990P probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Eif2d T C 1: 131,092,464 (GRCm39) V374A probably damaging Het
Fhdc1 T C 3: 84,382,033 (GRCm39) probably benign Het
Fryl T A 5: 73,222,804 (GRCm39) I1926F probably benign Het
Galnt4 A G 10: 98,945,046 (GRCm39) D257G probably damaging Het
Gatm A G 2: 122,428,629 (GRCm39) V344A probably benign Het
Gli1 T G 10: 127,167,369 (GRCm39) Y628S probably damaging Het
Gsdmc3 A C 15: 63,732,063 (GRCm39) probably null Het
Hap1 T C 11: 100,246,828 (GRCm39) T26A probably benign Het
Helz2 C T 2: 180,876,895 (GRCm39) G1200S probably benign Het
Insyn1 T C 9: 58,406,288 (GRCm39) F66S probably damaging Het
Iqgap2 C T 13: 96,028,171 (GRCm39) probably null Het
Itga3 T A 11: 94,943,320 (GRCm39) I895F probably benign Het
Klhl33 A T 14: 51,130,230 (GRCm39) C421* probably null Het
Klra2 T C 6: 131,219,789 (GRCm39) T131A probably damaging Het
Krt14 T C 11: 100,094,949 (GRCm39) E426G possibly damaging Het
Limd2 A G 11: 106,049,568 (GRCm39) F107L probably damaging Het
Lipo4 A T 19: 33,477,469 (GRCm39) N318K possibly damaging Het
Mab21l2 T G 3: 86,454,316 (GRCm39) D228A probably damaging Het
Moxd2 G A 6: 40,861,901 (GRCm39) H224Y probably damaging Het
Mpp4 T C 1: 59,162,624 (GRCm39) Y521C possibly damaging Het
Msto1 C T 3: 88,818,297 (GRCm39) A317T probably damaging Het
Mtmr4 T C 11: 87,501,793 (GRCm39) S559P probably damaging Het
Muc4 T A 16: 32,576,783 (GRCm39) H2094Q unknown Het
Ndufa11 C A 17: 57,024,922 (GRCm39) T28K probably damaging Het
Or2b4 A G 17: 38,116,686 (GRCm39) T217A probably benign Het
Or4f4b G T 2: 111,314,623 (GRCm39) A283S probably damaging Het
Orai2 C A 5: 136,179,610 (GRCm39) R155L probably damaging Het
Pde4c A G 8: 71,202,005 (GRCm39) D582G possibly damaging Het
Pde4dip T C 3: 97,661,749 (GRCm39) E609G probably null Het
Prune2 A G 19: 17,097,109 (GRCm39) D871G possibly damaging Het
Rbpms2 T A 9: 65,538,121 (GRCm39) L4Q probably damaging Het
Rhbg T C 3: 88,154,765 (GRCm39) Y213C probably damaging Het
Rplp0 T A 5: 115,700,562 (GRCm39) N243K possibly damaging Het
Rtp4 A T 16: 23,431,963 (GRCm39) H165L possibly damaging Het
Ryr2 C A 13: 11,677,115 (GRCm39) M3245I probably benign Het
Sh2b2 T A 5: 136,260,968 (GRCm39) M83L possibly damaging Het
Simc1 T C 13: 54,689,347 (GRCm39) I284T probably damaging Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc46a1 T C 11: 78,359,471 (GRCm39) S368P possibly damaging Het
St6galnac1 A G 11: 116,659,933 (GRCm39) S127P probably benign Het
Tatdn3 A G 1: 190,785,073 (GRCm39) I192T possibly damaging Het
Tmem25 C A 9: 44,707,383 (GRCm39) V239F possibly damaging Het
Tprkb A C 6: 85,909,922 (GRCm39) probably benign Het
Trappc10 A G 10: 78,032,168 (GRCm39) V1040A probably benign Het
Txnrd1 G A 10: 82,719,744 (GRCm39) probably benign Het
Uhrf1 A T 17: 56,625,089 (GRCm39) K544M probably damaging Het
Unc80 T A 1: 66,629,386 (GRCm39) H1294Q possibly damaging Het
Uspl1 T A 5: 149,146,560 (GRCm39) I437K probably damaging Het
Vmn1r232 A T 17: 21,133,999 (GRCm39) N200K possibly damaging Het
Vmn2r19 A T 6: 123,312,795 (GRCm39) I622F probably damaging Het
Znfx1 A G 2: 166,897,730 (GRCm39) F398S probably damaging 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
IGL00963:Ctnna3 APN 10 64,781,728 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GACACCATAGGCTACCTTCCTAATC -3'
(R):5'- TGCCATCCATCGATTAACACAG -3'

Sequencing Primer
(F):5'- CTTCCTAAAGTGCTGCTC -3'
(R):5'- TCGATTAACACAGCATCATTCCTG -3'
Posted On 2014-09-18