Incidental Mutation 'PIT4687001:Ctnna3'
ID |
556196 |
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 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.255)
|
Stock # |
PIT4687001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
63265877-64839446 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64670385 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 638
(D638G)
|
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: D638G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000074606 Gene: ENSMUSG00000060843 AA Change: D638G
Domain | Start | End | E-Value | Type |
Pfam:Vinculin
|
17 |
363 |
5.1e-66 |
PFAM |
Pfam:Vinculin
|
324 |
856 |
1e-175 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105440
AA Change: D638G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101080 Gene: ENSMUSG00000060843 AA Change: D638G
Domain | Start | End | E-Value | Type |
Pfam:Vinculin
|
17 |
363 |
5.1e-66 |
PFAM |
Pfam:Vinculin
|
324 |
856 |
1e-175 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105441
AA Change: D638G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101081 Gene: ENSMUSG00000060843 AA Change: D638G
Domain | Start | End | E-Value | Type |
Pfam:Vinculin
|
17 |
363 |
5.1e-66 |
PFAM |
Pfam:Vinculin
|
324 |
856 |
1e-175 |
PFAM |
|
Coding Region Coverage |
- 1x: 93.4%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.6%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh1 |
T |
G |
3: 137,995,596 (GRCm39) |
V333G |
probably damaging |
Het |
Aggf1 |
A |
G |
13: 95,501,383 (GRCm39) |
L333P |
probably damaging |
Het |
Ankmy1 |
A |
G |
1: 92,812,803 (GRCm39) |
V502A |
probably benign |
Het |
Atm |
A |
G |
9: 53,398,112 (GRCm39) |
|
probably null |
Het |
Ccdc180 |
A |
G |
4: 45,949,526 (GRCm39) |
T1594A |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,373,453 (GRCm39) |
D1244E |
probably benign |
Het |
Ctsr |
T |
C |
13: 61,308,346 (GRCm39) |
H266R |
possibly damaging |
Het |
D630045J12Rik |
C |
T |
6: 38,172,036 (GRCm39) |
E711K |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,383,723 (GRCm39) |
S2982P |
probably damaging |
Het |
Dsg1a |
G |
T |
18: 20,464,755 (GRCm39) |
A417S |
probably benign |
Het |
Gdpd1 |
T |
C |
11: 86,950,366 (GRCm39) |
D69G |
probably damaging |
Het |
Gp2 |
C |
T |
7: 119,050,801 (GRCm39) |
R310H |
possibly damaging |
Het |
Ifna2 |
G |
A |
4: 88,601,542 (GRCm39) |
H159Y |
possibly damaging |
Het |
Kptn |
T |
C |
7: 15,859,751 (GRCm39) |
V325A |
probably damaging |
Het |
Marchf7 |
A |
G |
2: 60,062,622 (GRCm39) |
E143G |
probably damaging |
Het |
Mcm4 |
A |
G |
16: 15,454,577 (GRCm39) |
L47P |
probably benign |
Het |
Mcm8 |
T |
C |
2: 132,659,097 (GRCm39) |
F27S |
possibly damaging |
Het |
Nod2 |
T |
A |
8: 89,408,274 (GRCm39) |
V967E |
probably damaging |
Het |
Nrxn2 |
G |
A |
19: 6,531,338 (GRCm39) |
R659Q |
probably benign |
Het |
Or10al4 |
T |
G |
17: 38,037,082 (GRCm39) |
C56G |
probably benign |
Het |
Or4x12-ps1 |
A |
G |
2: 89,916,733 (GRCm39) |
V24A |
probably benign |
Het |
Parp10 |
C |
T |
15: 76,125,122 (GRCm39) |
R545Q |
probably benign |
Het |
Ppp2r3d |
T |
C |
9: 101,021,579 (GRCm39) |
E332G |
probably benign |
Het |
Pramel27 |
C |
T |
4: 143,573,103 (GRCm39) |
|
probably benign |
Het |
Ptpdc1 |
A |
G |
13: 48,739,766 (GRCm39) |
V555A |
probably benign |
Het |
Qsox2 |
G |
A |
2: 26,112,300 (GRCm39) |
L81F |
possibly damaging |
Het |
Sbsn |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
7: 30,452,391 (GRCm39) |
|
probably benign |
Het |
Spata31 |
A |
G |
13: 65,069,151 (GRCm39) |
D433G |
probably benign |
Het |
Stpg2 |
T |
C |
3: 138,921,026 (GRCm39) |
I77T |
possibly damaging |
Het |
Sugp2 |
T |
C |
8: 70,710,162 (GRCm39) |
S928P |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,308,390 (GRCm39) |
S722P |
possibly damaging |
Het |
Szt2 |
A |
T |
4: 118,255,398 (GRCm39) |
S229T |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,206,630 (GRCm39) |
L505P |
probably damaging |
Het |
Ttc39d |
G |
A |
17: 80,524,354 (GRCm39) |
A338T |
probably damaging |
Het |
Ubash3b |
A |
G |
9: 40,934,814 (GRCm39) |
F489L |
probably damaging |
Het |
Xpo7 |
A |
T |
14: 70,904,589 (GRCm39) |
Y1015N |
probably benign |
Het |
Zbtb14 |
C |
A |
17: 69,695,302 (GRCm39) |
Y333* |
probably null |
Het |
Zp2 |
T |
C |
7: 119,741,102 (GRCm39) |
T141A |
probably benign |
Het |
|
Other mutations in Ctnna3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTAAGGCCTCTCTGTGTGTAGC -3'
(R):5'- ACATATTAGAGCCCTCACACTG -3'
Sequencing Primer
(F):5'- AGCTGGGATTGGATTTCAAGATTC -3'
(R):5'- GAGCCCTCACACTGATTTTTCAAGAG -3'
|
Posted On |
2019-06-07 |