Incidental Mutation 'R0647:Ctnna3'
ID |
57276 |
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 |
038832-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.232)
|
Stock # |
R0647 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
63265877-64839446 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 63656203 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 261
(N261I)
|
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: N261I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000074606 Gene: ENSMUSG00000060843 AA Change: N261I
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: N261I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000101080 Gene: ENSMUSG00000060843 AA Change: N261I
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: N261I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000101081 Gene: ENSMUSG00000060843 AA Change: N261I
Domain | Start | End | E-Value | Type |
Pfam:Vinculin
|
17 |
363 |
5.1e-66 |
PFAM |
Pfam:Vinculin
|
324 |
856 |
1e-175 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135474
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts2 |
C |
A |
11: 50,494,265 (GRCm39) |
T113K |
probably damaging |
Het |
Adgre1 |
T |
A |
17: 57,718,003 (GRCm39) |
N338K |
probably damaging |
Het |
Aggf1 |
A |
T |
13: 95,508,164 (GRCm39) |
|
probably null |
Het |
Apc2 |
A |
T |
10: 80,140,762 (GRCm39) |
I206F |
probably damaging |
Het |
Carmil3 |
T |
C |
14: 55,739,892 (GRCm39) |
|
probably null |
Het |
Ccdc110 |
A |
C |
8: 46,396,425 (GRCm39) |
E772A |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,143,681 (GRCm39) |
F2977L |
probably damaging |
Het |
Cdh23 |
A |
T |
10: 60,159,153 (GRCm39) |
Y2207* |
probably null |
Het |
Cfap20dc |
T |
A |
14: 8,536,655 (GRCm38) |
D184V |
possibly damaging |
Het |
Chd4 |
T |
A |
6: 125,086,086 (GRCm39) |
N908K |
probably damaging |
Het |
Chst9 |
A |
G |
18: 15,585,726 (GRCm39) |
I279T |
probably damaging |
Het |
Dlgap2 |
A |
T |
8: 14,777,591 (GRCm39) |
S279C |
possibly damaging |
Het |
Dock4 |
G |
A |
12: 40,760,883 (GRCm39) |
E524K |
probably damaging |
Het |
Fabp12 |
T |
A |
3: 10,311,096 (GRCm39) |
N122I |
possibly damaging |
Het |
Fam184b |
T |
C |
5: 45,741,932 (GRCm39) |
T100A |
probably benign |
Het |
Fbxl5 |
T |
C |
5: 43,925,411 (GRCm39) |
D176G |
probably damaging |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Foxe1 |
A |
G |
4: 46,344,477 (GRCm39) |
N95S |
possibly damaging |
Het |
Frem3 |
A |
G |
8: 81,341,814 (GRCm39) |
E1369G |
probably damaging |
Het |
Frmpd4 |
C |
T |
X: 166,272,006 (GRCm39) |
E483K |
probably damaging |
Het |
Gbp11 |
T |
C |
5: 105,478,830 (GRCm39) |
K203E |
possibly damaging |
Het |
Hs3st6 |
C |
T |
17: 24,977,134 (GRCm39) |
R205C |
probably damaging |
Het |
Ifitm10 |
C |
T |
7: 141,909,772 (GRCm39) |
S179N |
probably damaging |
Het |
Irx2 |
A |
C |
13: 72,778,799 (GRCm39) |
N121T |
probably damaging |
Het |
Itih1 |
A |
T |
14: 30,657,820 (GRCm39) |
V417E |
probably damaging |
Het |
Itpr1 |
A |
C |
6: 108,360,659 (GRCm39) |
E695A |
probably damaging |
Het |
Kif1c |
T |
A |
11: 70,616,967 (GRCm39) |
I755K |
probably damaging |
Het |
Lamb3 |
A |
G |
1: 193,013,104 (GRCm39) |
E443G |
probably damaging |
Het |
Lrp1 |
G |
C |
10: 127,407,346 (GRCm39) |
T1865R |
probably damaging |
Het |
Lrrc8b |
T |
A |
5: 105,628,473 (GRCm39) |
I273K |
possibly damaging |
Het |
Ly9 |
T |
C |
1: 171,427,376 (GRCm39) |
Y393C |
probably damaging |
Het |
Mphosph8 |
T |
C |
14: 56,911,862 (GRCm39) |
V295A |
probably benign |
Het |
Nlrp5 |
T |
A |
7: 23,117,132 (GRCm39) |
D269E |
probably damaging |
Het |
Or1r1 |
G |
A |
11: 73,874,597 (GRCm39) |
A279V |
probably damaging |
Het |
Or2t6 |
T |
G |
14: 14,175,858 (GRCm38) |
T75P |
probably benign |
Het |
Or4k44 |
A |
G |
2: 111,367,704 (GRCm39) |
V310A |
probably benign |
Het |
Or52u1 |
T |
G |
7: 104,237,322 (GRCm39) |
F104V |
probably damaging |
Het |
Or5p50 |
T |
A |
7: 107,422,218 (GRCm39) |
I153F |
probably benign |
Het |
Otud3 |
A |
G |
4: 138,640,948 (GRCm39) |
L64P |
probably damaging |
Het |
Pcdh17 |
A |
T |
14: 84,685,213 (GRCm39) |
H560L |
possibly damaging |
Het |
Pcdhb21 |
T |
C |
18: 37,646,913 (GRCm39) |
V14A |
probably damaging |
Het |
Prss3l |
A |
T |
6: 41,420,275 (GRCm39) |
F150L |
probably benign |
Het |
Rbfox1 |
A |
T |
16: 7,042,248 (GRCm39) |
Q14L |
probably damaging |
Het |
Rbm44 |
A |
G |
1: 91,084,650 (GRCm39) |
D665G |
probably benign |
Het |
Rc3h2 |
C |
T |
2: 37,299,542 (GRCm39) |
V163M |
probably damaging |
Het |
Sash1 |
T |
A |
10: 8,605,316 (GRCm39) |
R1025W |
probably damaging |
Het |
Sgpl1 |
A |
G |
10: 60,949,267 (GRCm39) |
S146P |
probably damaging |
Het |
Slc27a2 |
G |
A |
2: 126,429,836 (GRCm39) |
D615N |
probably benign |
Het |
Smap1 |
A |
G |
1: 23,892,559 (GRCm39) |
I135T |
probably damaging |
Het |
Snapc3 |
A |
G |
4: 83,368,466 (GRCm39) |
D321G |
probably damaging |
Het |
St6galnac4 |
C |
T |
2: 32,479,460 (GRCm39) |
R6C |
probably damaging |
Het |
Syne2 |
C |
T |
12: 75,934,977 (GRCm39) |
P153L |
probably benign |
Het |
Tiprl |
A |
G |
1: 165,050,092 (GRCm39) |
|
probably null |
Het |
Tmem94 |
A |
G |
11: 115,687,621 (GRCm39) |
N1160S |
probably damaging |
Het |
Trim65 |
G |
A |
11: 116,019,036 (GRCm39) |
R168C |
possibly damaging |
Het |
Txndc16 |
A |
T |
14: 45,406,732 (GRCm39) |
I241N |
probably damaging |
Het |
Txndc16 |
T |
A |
14: 45,402,818 (GRCm39) |
R101* |
probably null |
Het |
Ugt2b38 |
A |
G |
5: 87,571,328 (GRCm39) |
S235P |
probably benign |
Het |
Ugt3a1 |
A |
T |
15: 9,310,635 (GRCm39) |
M306L |
probably benign |
Het |
Vmn1r23 |
T |
A |
6: 57,903,169 (GRCm39) |
Y203F |
probably benign |
Het |
Vmn2r3 |
T |
A |
3: 64,183,046 (GRCm39) |
I218F |
probably damaging |
Het |
Wdfy4 |
A |
G |
14: 32,831,656 (GRCm39) |
C857R |
possibly damaging |
Het |
Zfp493 |
A |
C |
13: 67,931,994 (GRCm39) |
K31T |
possibly 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 |
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'- TTGAAGGAGAACTCCCCACTCCTG -3'
(R):5'- AAGCCCTTGATAAAGGCACTGACC -3'
Sequencing Primer
(F):5'- ACTCCTGCATTCTATTTGTTCAGC -3'
(R):5'- CTTATGCAGAGATGTGCTAAGC -3'
|
Posted On |
2013-07-11 |