Incidental Mutation 'R8415:Ctnna3'
| ID |
652899 |
| 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 |
067769-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R8415 (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 63339909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 32
(I32V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075099]
[ENSMUST00000105440]
[ENSMUST00000105441]
|
| AlphaFold |
Q65CL1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075099
AA Change: I32V
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: I32V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
17 |
363 |
5.1e-66 |
PFAM |
|
Pfam:Vinculin
|
324 |
856 |
1e-175 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105440
AA Change: I32V
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: I32V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
17 |
363 |
5.1e-66 |
PFAM |
|
Pfam:Vinculin
|
324 |
856 |
1e-175 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105441
AA Change: I32V
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: I32V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd24 |
A |
G |
10: 81,475,947 (GRCm39) |
H317R |
unknown |
Het |
| Aox1 |
A |
T |
1: 58,080,638 (GRCm39) |
Y29F |
probably damaging |
Het |
| Bnip2 |
T |
C |
9: 69,910,967 (GRCm39) |
F304S |
possibly damaging |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Ccdc18 |
T |
A |
5: 108,363,899 (GRCm39) |
V1198E |
probably damaging |
Het |
| Cnot3 |
T |
C |
7: 3,661,687 (GRCm39) |
F660L |
probably benign |
Het |
| Cntnap3 |
A |
G |
13: 64,886,479 (GRCm39) |
I1249T |
probably benign |
Het |
| Dgkz |
A |
T |
2: 91,770,649 (GRCm39) |
S485T |
possibly damaging |
Het |
| Dnaaf6rt |
A |
G |
1: 31,262,564 (GRCm39) |
N182S |
probably benign |
Het |
| Dpagt1 |
C |
A |
9: 44,238,482 (GRCm39) |
N49K |
possibly damaging |
Het |
| Dsg3 |
A |
T |
18: 20,656,765 (GRCm39) |
S212C |
probably damaging |
Het |
| Epb41l1 |
C |
T |
2: 156,368,873 (GRCm39) |
A714V |
probably benign |
Het |
| Eppk1 |
A |
G |
15: 75,995,831 (GRCm39) |
V350A |
probably benign |
Het |
| Frem1 |
T |
G |
4: 82,918,499 (GRCm39) |
D481A |
probably damaging |
Het |
| Git2 |
T |
C |
5: 114,871,989 (GRCm39) |
K532E |
possibly damaging |
Het |
| Glyr1 |
T |
C |
16: 4,854,329 (GRCm39) |
H102R |
probably benign |
Het |
| Hdgfl2 |
C |
T |
17: 56,400,712 (GRCm39) |
P160L |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,308,905 (GRCm39) |
S382P |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,178,626 (GRCm39) |
G1074R |
probably damaging |
Het |
| Ift140 |
A |
G |
17: 25,311,889 (GRCm39) |
I1271V |
probably damaging |
Het |
| Krt28 |
T |
A |
11: 99,265,626 (GRCm39) |
I14L |
probably benign |
Het |
| Lrtm2 |
A |
T |
6: 119,294,458 (GRCm39) |
D224E |
probably damaging |
Het |
| Map1s |
G |
A |
8: 71,365,910 (GRCm39) |
V272M |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,233,866 (GRCm39) |
Y960H |
probably damaging |
Het |
| Mettl25 |
G |
T |
10: 105,662,002 (GRCm39) |
Q323K |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,315,854 (GRCm39) |
S111T |
probably benign |
Het |
| Muc17 |
A |
G |
5: 137,172,798 (GRCm39) |
L85P |
|
Het |
| Myh6 |
C |
G |
14: 55,181,835 (GRCm39) |
R1822P |
probably damaging |
Het |
| Myof |
C |
T |
19: 37,983,872 (GRCm39) |
G144E |
probably benign |
Het |
| Nat8f2 |
A |
G |
6: 85,845,024 (GRCm39) |
S113P |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,256,925 (GRCm39) |
Y181F |
probably benign |
Het |
| Nup85 |
A |
G |
11: 115,457,468 (GRCm39) |
I57V |
probably benign |
Het |
| Or4c99 |
T |
A |
2: 88,329,710 (GRCm39) |
C94S |
probably damaging |
Het |
| Or5p79 |
C |
T |
7: 108,221,163 (GRCm39) |
T48I |
probably damaging |
Het |
| Or7e170 |
T |
A |
9: 19,795,409 (GRCm39) |
Y64F |
possibly damaging |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,110 (GRCm39) |
N361S |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
C |
T |
2: 156,129,913 (GRCm39) |
T495M |
probably benign |
Het |
| Pitpnm1 |
T |
C |
19: 4,155,454 (GRCm39) |
M368T |
probably benign |
Het |
| Pter |
A |
G |
2: 13,005,700 (GRCm39) |
D291G |
probably damaging |
Het |
| Rasgrp2 |
T |
G |
19: 6,454,781 (GRCm39) |
V207G |
probably damaging |
Het |
| Rnd2 |
A |
T |
11: 101,362,011 (GRCm39) |
Q188L |
probably benign |
Het |
| Sh3d19 |
T |
A |
3: 85,992,363 (GRCm39) |
D130E |
probably benign |
Het |
| Slc7a2 |
A |
T |
8: 41,369,396 (GRCm39) |
Y617F |
probably damaging |
Het |
| Snx29 |
T |
C |
16: 11,265,291 (GRCm39) |
L165P |
probably damaging |
Het |
| St7 |
T |
C |
6: 17,848,080 (GRCm39) |
|
probably null |
Het |
| Tas2r115 |
A |
G |
6: 132,714,798 (GRCm39) |
L51P |
probably damaging |
Het |
| Tead1 |
C |
A |
7: 112,456,135 (GRCm39) |
P164Q |
probably benign |
Het |
| Thop1 |
A |
G |
10: 80,914,385 (GRCm39) |
Y224C |
probably damaging |
Het |
| Twf1 |
T |
C |
15: 94,477,702 (GRCm39) |
*351W |
probably null |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,662,466 (GRCm39) |
|
probably null |
Het |
| Vmn2r118 |
G |
T |
17: 55,915,057 (GRCm39) |
L530I |
probably benign |
Het |
| Vmn2r30 |
A |
T |
7: 7,315,359 (GRCm39) |
C825S |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,818,549 (GRCm39) |
M3106K |
|
Het |
| Wfdc15a |
A |
T |
2: 164,041,671 (GRCm39) |
C51S |
probably damaging |
Het |
| Zc3hc1 |
T |
C |
6: 30,375,951 (GRCm39) |
D203G |
probably damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,308,079 (GRCm39) |
D932E |
probably benign |
Het |
| Zfp267 |
G |
A |
3: 36,219,182 (GRCm39) |
G402S |
probably damaging |
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 |
|
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 |
|
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 |
|
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'- AGAACCCTCTACTTTGGAAAGAC -3'
(R):5'- GTCCCAAGCACTAAGAAGAATG -3'
Sequencing Primer
(F):5'- TTTTTGCTGATAAGCACTGTTTTG -3'
(R):5'- TGTAGACCTGACTGGCCTTGAAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation