Incidental Mutation 'R7934:Ctnna3'
| ID |
648628 |
| 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 |
045980-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R7934 (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 T
at 64421747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 514
(I514F)
|
| 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: I514F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: I514F
| 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: I514F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: I514F
| 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: I514F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: I514F
| 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: 99.6%
- 20x: 98.5%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
G |
A |
5: 139,349,770 (GRCm39) |
A93V |
probably benign |
Het |
| Abca8b |
G |
A |
11: 109,865,865 (GRCm39) |
T296I |
possibly damaging |
Het |
| Adamtsl1 |
A |
C |
4: 86,161,962 (GRCm39) |
Y365S |
probably damaging |
Het |
| Ambp |
T |
A |
4: 63,067,677 (GRCm39) |
I178F |
probably damaging |
Het |
| Ankle1 |
T |
C |
8: 71,858,899 (GRCm39) |
V44A |
possibly damaging |
Het |
| Arhgef2 |
A |
G |
3: 88,537,221 (GRCm39) |
E37G |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,599,639 (GRCm39) |
I584T |
probably benign |
Het |
| Ccdc171 |
T |
A |
4: 83,614,492 (GRCm39) |
L1031* |
probably null |
Het |
| Cdh17 |
T |
A |
4: 11,799,754 (GRCm39) |
|
probably null |
Het |
| Cdip1 |
T |
C |
16: 4,586,422 (GRCm39) |
T203A |
probably benign |
Het |
| Ceacam1 |
C |
T |
7: 25,163,220 (GRCm39) |
V338I |
possibly damaging |
Het |
| Cep78 |
G |
A |
19: 15,933,754 (GRCm39) |
T608I |
probably damaging |
Het |
| Ces3a |
T |
A |
8: 105,775,345 (GRCm39) |
|
probably null |
Het |
| Cfap210 |
G |
A |
2: 69,612,450 (GRCm39) |
Q97* |
probably null |
Het |
| Chd7 |
A |
G |
4: 8,854,121 (GRCm39) |
T1898A |
probably benign |
Het |
| Cpne6 |
T |
C |
14: 55,750,066 (GRCm39) |
C66R |
possibly damaging |
Het |
| Creb1 |
G |
A |
1: 64,609,372 (GRCm39) |
A108T |
probably benign |
Het |
| Cyp2c55 |
T |
C |
19: 39,030,535 (GRCm39) |
F456L |
probably damaging |
Het |
| Cyp2d40 |
A |
G |
15: 82,648,212 (GRCm39) |
S34P |
probably damaging |
Het |
| Cyp2g1 |
A |
T |
7: 26,518,618 (GRCm39) |
T378S |
probably damaging |
Het |
| Eif2b3 |
C |
A |
4: 116,923,675 (GRCm39) |
Q297K |
probably benign |
Het |
| Fbll1 |
T |
C |
11: 35,689,048 (GRCm39) |
N72D |
unknown |
Het |
| Fev |
C |
G |
1: 74,921,632 (GRCm39) |
R106P |
probably damaging |
Het |
| Gal3st1 |
A |
G |
11: 3,948,405 (GRCm39) |
Y204C |
probably damaging |
Het |
| Gm15130 |
A |
T |
2: 110,964,582 (GRCm39) |
L180Q |
|
Het |
| Greb1l |
A |
T |
18: 10,474,371 (GRCm39) |
K229* |
probably null |
Het |
| Haghl |
G |
T |
17: 26,002,519 (GRCm39) |
T214K |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,308,174 (GRCm39) |
H138R |
probably benign |
Het |
| Ighv1-53 |
G |
T |
12: 115,122,236 (GRCm39) |
Y46* |
probably null |
Het |
| Igsf21 |
T |
C |
4: 139,761,755 (GRCm39) |
T308A |
possibly damaging |
Het |
| Kcnb1 |
A |
G |
2: 166,946,536 (GRCm39) |
S771P |
probably benign |
Het |
| Kndc1 |
T |
A |
7: 139,501,402 (GRCm39) |
M897K |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,727 (GRCm39) |
M2345V |
possibly damaging |
Het |
| Mettl2 |
T |
C |
11: 105,019,773 (GRCm39) |
S137P |
probably benign |
Het |
| Mrpl15 |
A |
G |
1: 4,844,725 (GRCm39) |
S189P |
probably benign |
Het |
| Ndrg2 |
T |
C |
14: 52,143,661 (GRCm39) |
Q351R |
probably benign |
Het |
| Nox4 |
A |
G |
7: 86,945,032 (GRCm39) |
N65S |
probably damaging |
Het |
| Or1n1 |
A |
G |
2: 36,750,228 (GRCm39) |
I44T |
possibly damaging |
Het |
| Or1p1b |
C |
T |
11: 74,131,326 (GRCm39) |
S312F |
probably benign |
Het |
| Osbpl11 |
T |
A |
16: 33,056,752 (GRCm39) |
W729R |
probably damaging |
Het |
| Oxct2b |
C |
A |
4: 123,010,447 (GRCm39) |
C122* |
probably null |
Het |
| Pdcl3 |
A |
T |
1: 39,026,782 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
A |
G |
2: 160,616,498 (GRCm39) |
H1294R |
possibly damaging |
Het |
| Pnp2 |
C |
A |
14: 51,201,903 (GRCm39) |
S296R |
probably benign |
Het |
| Ppp1r12c |
G |
A |
7: 4,488,416 (GRCm39) |
Q337* |
probably null |
Het |
| Prr23a4 |
A |
G |
9: 98,785,880 (GRCm39) |
R182G |
possibly damaging |
Het |
| Ranbp2 |
G |
A |
10: 58,312,297 (GRCm39) |
V1006I |
probably damaging |
Het |
| Rxrg |
A |
G |
1: 167,454,927 (GRCm39) |
D170G |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,548,162 (GRCm39) |
T691A |
probably benign |
Het |
| Slc1a4 |
A |
G |
11: 20,258,518 (GRCm39) |
I307T |
probably damaging |
Het |
| Slc4a8 |
G |
A |
15: 100,685,173 (GRCm39) |
V235I |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,708,450 (GRCm39) |
I750F |
probably damaging |
Het |
| Trim30a |
A |
T |
7: 104,061,448 (GRCm39) |
L282Q |
probably damaging |
Het |
| Tshr |
A |
G |
12: 91,478,702 (GRCm39) |
K183R |
possibly damaging |
Het |
| Usp38 |
A |
T |
8: 81,711,077 (GRCm39) |
L986Q |
probably damaging |
Het |
| Vmn1r257 |
T |
A |
7: 22,391,439 (GRCm39) |
T102S |
possibly damaging |
Het |
| Vps18 |
A |
G |
2: 119,124,122 (GRCm39) |
T350A |
probably benign |
Het |
| Zan |
T |
A |
5: 137,461,841 (GRCm39) |
T1113S |
unknown |
Het |
| Zbtb37 |
A |
T |
1: 160,857,305 (GRCm39) |
S312R |
probably damaging |
Het |
| Zeb1 |
A |
G |
18: 5,748,703 (GRCm39) |
N90S |
probably benign |
Het |
| Zfp715 |
A |
T |
7: 42,949,308 (GRCm39) |
Y217* |
probably null |
Het |
| Zfp9 |
T |
C |
6: 118,441,847 (GRCm39) |
T272A |
probably damaging |
Het |
| Zfp943 |
T |
A |
17: 22,212,361 (GRCm39) |
H482Q |
probably damaging |
Het |
| Zfp971 |
A |
T |
2: 177,675,173 (GRCm39) |
K257N |
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 |
|
|
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 |
|
|
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'- GGTGCACATCTATCTGTAAGCATG -3'
(R):5'- AAGGAAGTTGACATTTCTCATCACACC -3'
Sequencing Primer
(F):5'- AGAAGCTAGTTCTGGGTACCTAC -3'
(R):5'- ACCTTCGGTGTAAGCGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation