Incidental Mutation 'R6414:Ctnna3'
| ID |
514868 |
| 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 |
044556-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R6414 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
63265877-64839446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64096644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 394
(V394A)
|
| 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: V394A
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: V394A
| 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: V394A
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: V394A
| 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: V394A
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: V394A
| 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: 99.4%
- 20x: 97.7%
|
| Validation Efficiency |
98% (57/58) |
| 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 |
|---|
| Aadacl4fm5 |
T |
A |
4: 144,503,985 (GRCm39) |
I389L |
possibly damaging |
Het |
| Acap1 |
A |
G |
11: 69,775,162 (GRCm39) |
V367A |
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,473,858 (GRCm39) |
D715G |
probably benign |
Het |
| Atg101 |
T |
A |
15: 101,188,341 (GRCm39) |
C149S |
probably benign |
Het |
| Atp2c1 |
A |
T |
9: 105,343,855 (GRCm39) |
I84N |
probably damaging |
Het |
| Ceacam20 |
C |
A |
7: 19,710,056 (GRCm39) |
A360E |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,243,371 (GRCm39) |
|
probably null |
Het |
| Clcc1 |
G |
A |
3: 108,584,167 (GRCm39) |
C517Y |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,769,465 (GRCm39) |
|
probably null |
Het |
| Ctsll3 |
A |
G |
13: 60,948,113 (GRCm39) |
F188S |
probably damaging |
Het |
| Cyth4 |
T |
C |
15: 78,492,346 (GRCm39) |
V125A |
probably damaging |
Het |
| Ddx43 |
G |
A |
9: 78,308,218 (GRCm39) |
V131I |
probably benign |
Het |
| Elp4 |
A |
G |
2: 105,734,788 (GRCm39) |
S16P |
possibly damaging |
Het |
| Espl1 |
T |
A |
15: 102,223,995 (GRCm39) |
V1182E |
probably damaging |
Het |
| Fhod3 |
T |
C |
18: 25,223,935 (GRCm39) |
S1094P |
possibly damaging |
Het |
| Fmo6 |
A |
T |
1: 162,748,014 (GRCm39) |
V350D |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,858,773 (GRCm39) |
F1545S |
probably damaging |
Het |
| Gata3 |
T |
A |
2: 9,863,245 (GRCm39) |
H423L |
possibly damaging |
Het |
| Golt1a |
A |
T |
1: 133,248,032 (GRCm39) |
M87L |
probably damaging |
Het |
| Gpr171 |
A |
T |
3: 59,005,544 (GRCm39) |
V77E |
probably damaging |
Het |
| Hectd2 |
A |
G |
19: 36,596,186 (GRCm39) |
D757G |
probably benign |
Het |
| Hmmr |
A |
G |
11: 40,606,694 (GRCm39) |
|
probably null |
Het |
| Il31ra |
A |
G |
13: 112,660,441 (GRCm39) |
V635A |
possibly damaging |
Het |
| Lama1 |
T |
C |
17: 68,053,905 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
G |
A |
7: 27,010,140 (GRCm39) |
P1140L |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,386,988 (GRCm39) |
L1210P |
possibly damaging |
Het |
| Meox2 |
A |
T |
12: 37,158,830 (GRCm39) |
M1L |
probably benign |
Het |
| Mex3d |
A |
G |
10: 80,217,205 (GRCm39) |
S671P |
unknown |
Het |
| Mrgprb2 |
C |
T |
7: 48,202,129 (GRCm39) |
V199I |
probably benign |
Het |
| Mroh9 |
A |
T |
1: 162,902,271 (GRCm39) |
V114E |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,412,834 (GRCm39) |
K1927E |
unknown |
Het |
| Or4f52 |
A |
C |
2: 111,061,497 (GRCm39) |
|
probably null |
Het |
| Or6c35 |
T |
A |
10: 129,169,578 (GRCm39) |
I276K |
probably benign |
Het |
| Otogl |
C |
T |
10: 107,617,911 (GRCm39) |
C1734Y |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,864,838 (GRCm39) |
|
probably null |
Het |
| Pcdh15 |
T |
A |
10: 74,021,258 (GRCm39) |
N162K |
probably damaging |
Het |
| Pcdhb10 |
A |
C |
18: 37,546,898 (GRCm39) |
H658P |
possibly damaging |
Het |
| Pgm2l1 |
G |
T |
7: 99,904,747 (GRCm39) |
A160S |
possibly damaging |
Het |
| Prkag2 |
T |
A |
5: 25,305,178 (GRCm39) |
|
probably benign |
Het |
| Rap1gap2 |
A |
G |
11: 74,296,616 (GRCm39) |
L457P |
probably damaging |
Het |
| Rasef |
C |
T |
4: 73,658,818 (GRCm39) |
V463M |
probably benign |
Het |
| Rb1 |
T |
C |
14: 73,520,414 (GRCm39) |
S42G |
unknown |
Het |
| Reep3 |
C |
A |
10: 66,875,356 (GRCm39) |
V36F |
probably damaging |
Het |
| Rhcg |
A |
G |
7: 79,248,716 (GRCm39) |
|
probably null |
Het |
| Sbno1 |
T |
C |
5: 124,533,994 (GRCm39) |
S661G |
probably benign |
Het |
| Slc25a3 |
T |
G |
10: 90,958,190 (GRCm39) |
Q50P |
possibly damaging |
Het |
| Slc2a13 |
T |
A |
15: 91,228,008 (GRCm39) |
I395F |
probably benign |
Het |
| Slc6a5 |
C |
T |
7: 49,559,991 (GRCm39) |
|
probably benign |
Het |
| Snta1 |
G |
C |
2: 154,219,987 (GRCm39) |
T391S |
possibly damaging |
Het |
| Spata7 |
T |
C |
12: 98,629,479 (GRCm39) |
|
probably null |
Het |
| Stx17 |
A |
G |
4: 48,158,809 (GRCm39) |
|
probably null |
Het |
| Terf2 |
A |
T |
8: 107,803,486 (GRCm39) |
S365T |
probably benign |
Het |
| Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
| Trim8 |
A |
T |
19: 46,491,346 (GRCm39) |
H155L |
probably benign |
Het |
| Wipi2 |
T |
A |
5: 142,641,693 (GRCm39) |
V83D |
probably damaging |
Het |
| Zbtb47 |
T |
G |
9: 121,592,725 (GRCm39) |
D348E |
probably benign |
Het |
| Zfp316 |
C |
A |
5: 143,240,639 (GRCm39) |
R460L |
possibly damaging |
Het |
| Zfp799 |
C |
T |
17: 33,039,259 (GRCm39) |
V336M |
probably damaging |
Het |
| Zfp947 |
A |
T |
17: 22,365,395 (GRCm39) |
I93N |
probably damaging |
Het |
| Zranb3 |
A |
G |
1: 127,968,694 (GRCm39) |
Y74H |
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 |
|
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 |
|
|
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'- GATGCTCACATTCTGTACCATG -3'
(R):5'- ACTCTGCAGTGTTTATTACAGGTTG -3'
Sequencing Primer
(F):5'- GCTCACATTCTGTACCATGTATTAC -3'
(R):5'- CAGTGTTTATTACAGGTTGGCAATC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation