Incidental Mutation 'R0345:Ctnna3'
| ID |
38397 |
| 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 |
038552-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R0345 (G1)
|
| Quality Score |
116 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
63265877-64839446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63402619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 110
(D110G)
|
| 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: D110G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: D110G
| 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: D110G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: D110G
| 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: D110G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: D110G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
17 |
363 |
5.1e-66 |
PFAM |
|
Pfam:Vinculin
|
324 |
856 |
1e-175 |
PFAM |
|
| Meta Mutation Damage Score |
0.1544 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
C |
14: 59,377,079 (GRCm39) |
N105D |
possibly damaging |
Het |
| A2m |
T |
C |
6: 121,615,231 (GRCm39) |
|
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,415,198 (GRCm39) |
N641S |
probably damaging |
Het |
| Aff4 |
T |
A |
11: 53,263,708 (GRCm39) |
S243T |
probably benign |
Het |
| Agap2 |
A |
G |
10: 126,923,764 (GRCm39) |
H713R |
unknown |
Het |
| Ap2a2 |
T |
A |
7: 141,211,206 (GRCm39) |
M914K |
probably damaging |
Het |
| Bcl7c |
A |
T |
7: 127,307,635 (GRCm39) |
M22K |
possibly damaging |
Het |
| Cacna1i |
A |
T |
15: 80,256,663 (GRCm39) |
D1019V |
probably damaging |
Het |
| Cd7 |
T |
C |
11: 120,929,012 (GRCm39) |
T80A |
probably benign |
Het |
| Chia1 |
T |
C |
3: 106,029,755 (GRCm39) |
Y130H |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,808,872 (GRCm39) |
|
probably benign |
Het |
| Chrnb4 |
A |
G |
9: 54,942,878 (GRCm39) |
V132A |
probably benign |
Het |
| Cyp2d37-ps |
A |
T |
15: 82,573,975 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah6 |
T |
C |
6: 72,998,240 (GRCm39) |
M4061V |
probably benign |
Het |
| Dydc2 |
C |
A |
14: 40,783,903 (GRCm39) |
M73I |
probably benign |
Het |
| Egflam |
G |
T |
15: 7,319,475 (GRCm39) |
|
probably null |
Het |
| Fam228b |
C |
T |
12: 4,798,351 (GRCm39) |
V151I |
possibly damaging |
Het |
| Fanca |
C |
T |
8: 124,031,552 (GRCm39) |
V380I |
probably damaging |
Het |
| Gbp2b |
T |
C |
3: 142,313,944 (GRCm39) |
L408S |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,648,507 (GRCm39) |
S66G |
probably benign |
Het |
| Kcnq3 |
A |
T |
15: 65,892,154 (GRCm39) |
V407D |
possibly damaging |
Het |
| Kif24 |
A |
T |
4: 41,428,413 (GRCm39) |
D182E |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,740,818 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,114,313 (GRCm39) |
N140K |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,204,701 (GRCm39) |
E1518G |
probably damaging |
Het |
| Myof |
A |
T |
19: 38,012,793 (GRCm39) |
N47K |
probably damaging |
Het |
| Nckap1 |
G |
T |
2: 80,375,321 (GRCm39) |
|
probably benign |
Het |
| Nlrp1a |
C |
A |
11: 71,014,501 (GRCm39) |
G250W |
probably damaging |
Het |
| Nol4l |
T |
A |
2: 153,253,672 (GRCm39) |
S390C |
probably benign |
Het |
| Or2ag2b |
T |
C |
7: 106,417,908 (GRCm39) |
F206S |
probably benign |
Het |
| Or52e18 |
T |
A |
7: 104,609,388 (GRCm39) |
M184L |
probably damaging |
Het |
| Or5ak22 |
T |
C |
2: 85,230,685 (GRCm39) |
Q64R |
possibly damaging |
Het |
| Or5h26 |
G |
A |
16: 58,988,269 (GRCm39) |
P79L |
possibly damaging |
Het |
| Plec |
G |
T |
15: 76,061,367 (GRCm39) |
P2886T |
probably damaging |
Het |
| Prdm16 |
T |
C |
4: 154,425,568 (GRCm39) |
Y738C |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,016,164 (GRCm39) |
Y820C |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Sgce |
G |
A |
6: 4,718,019 (GRCm39) |
P98S |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,001,368 (GRCm39) |
F112S |
probably damaging |
Het |
| Slc6a16 |
C |
T |
7: 44,908,672 (GRCm39) |
A84V |
possibly damaging |
Het |
| Sntb2 |
T |
C |
8: 107,728,170 (GRCm39) |
S373P |
probably damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,185,218 (GRCm39) |
V953I |
probably benign |
Het |
| Spata31f1a |
T |
C |
4: 42,851,116 (GRCm39) |
I347V |
probably benign |
Het |
| St7l |
T |
C |
3: 104,803,125 (GRCm39) |
|
probably benign |
Het |
| Stap2 |
A |
G |
17: 56,307,097 (GRCm39) |
V217A |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,108,670 (GRCm39) |
D215E |
probably damaging |
Het |
| Synm |
C |
T |
7: 67,385,569 (GRCm39) |
V256I |
probably benign |
Het |
| Syt13 |
A |
C |
2: 92,776,412 (GRCm39) |
E233A |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,295,514 (GRCm39) |
E327V |
probably damaging |
Het |
| Tent5b |
A |
T |
4: 133,213,522 (GRCm39) |
Q131L |
probably benign |
Het |
| Themis3 |
A |
T |
17: 66,866,540 (GRCm39) |
|
probably null |
Het |
| Ttll13 |
T |
A |
7: 79,897,084 (GRCm39) |
D14E |
probably benign |
Het |
| Tubb2a |
A |
C |
13: 34,260,620 (GRCm39) |
D26E |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,734,584 (GRCm39) |
|
probably null |
Het |
| Vps13d |
A |
T |
4: 144,844,195 (GRCm39) |
V2537E |
possibly damaging |
Het |
| Zscan10 |
T |
A |
17: 23,829,056 (GRCm39) |
F456I |
probably damaging |
Het |
| Zyg11b |
A |
G |
4: 108,123,604 (GRCm39) |
I121T |
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 |
|
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'- TTTGAACGCCAGAACGCTCACC -3'
(R):5'- GGCACCAGGATTGATGCTTGCTTC -3'
Sequencing Primer
(F):5'- AACGCTGATCTGAAGCTGC -3'
(R):5'- AGGATTGATGCTTGCTTCAAGATTG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation