Incidental Mutation 'R0676:Ctnna3'
ID |
61655 |
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 |
038861-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.232)
|
Stock # |
R0676 (G1)
|
Quality Score |
205 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
63265877-64839446 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 64245040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Proline
at position 451
(H451P)
|
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: H451P
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000074606 Gene: ENSMUSG00000060843 AA Change: H451P
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: H451P
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000101080 Gene: ENSMUSG00000060843 AA Change: H451P
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: H451P
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000101081 Gene: ENSMUSG00000060843 AA Change: H451P
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 |
0.6346 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
100% (52/52) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
A |
G |
5: 88,112,516 (GRCm39) |
|
probably benign |
Het |
Arhgef25 |
A |
G |
10: 127,019,879 (GRCm39) |
|
probably null |
Het |
B3galnt2 |
T |
C |
13: 14,170,378 (GRCm39) |
S243P |
probably benign |
Het |
Col11a2 |
A |
G |
17: 34,276,249 (GRCm39) |
N799D |
probably damaging |
Het |
Cpb1 |
T |
C |
3: 20,320,697 (GRCm39) |
|
probably null |
Het |
Crot |
A |
C |
5: 9,043,622 (GRCm39) |
|
probably benign |
Het |
Cts6 |
C |
T |
13: 61,345,298 (GRCm39) |
|
probably benign |
Het |
Dock2 |
T |
C |
11: 34,586,063 (GRCm39) |
T540A |
probably damaging |
Het |
Dysf |
C |
A |
6: 84,090,318 (GRCm39) |
F956L |
probably benign |
Het |
Gabrg3 |
A |
T |
7: 56,374,169 (GRCm39) |
Y466N |
probably damaging |
Het |
Gm10845 |
T |
A |
14: 80,100,644 (GRCm39) |
|
noncoding transcript |
Het |
H2-M5 |
A |
G |
17: 37,300,034 (GRCm39) |
F47L |
possibly damaging |
Het |
H4c9 |
T |
C |
13: 22,225,276 (GRCm39) |
|
probably null |
Het |
Il1rl1 |
CTTGTTGTTGTTGTTGTTG |
CTTGTTGTTGTTGTTGTTGTTG |
1: 40,481,734 (GRCm39) |
|
probably benign |
Het |
Immt |
A |
G |
6: 71,828,828 (GRCm39) |
S128G |
probably benign |
Het |
Klb |
A |
T |
5: 65,536,398 (GRCm39) |
D576V |
probably damaging |
Het |
Lpin1 |
A |
T |
12: 16,590,980 (GRCm39) |
N817K |
possibly damaging |
Het |
Lrrk1 |
C |
T |
7: 65,944,729 (GRCm39) |
R627H |
probably damaging |
Het |
Luzp1 |
A |
G |
4: 136,269,996 (GRCm39) |
K740E |
probably damaging |
Het |
Mapk9 |
T |
C |
11: 49,773,983 (GRCm39) |
*382Q |
probably null |
Het |
Mn1 |
A |
G |
5: 111,568,900 (GRCm39) |
S957G |
possibly damaging |
Het |
Mrgprb8 |
A |
T |
7: 48,038,412 (GRCm39) |
M28L |
probably benign |
Het |
Myo1a |
A |
G |
10: 127,555,749 (GRCm39) |
I913V |
probably benign |
Het |
Nolc1 |
T |
A |
19: 46,068,528 (GRCm39) |
|
probably benign |
Het |
Pde4dip |
A |
C |
3: 97,624,413 (GRCm39) |
|
probably benign |
Het |
Rbpj |
C |
T |
5: 53,803,390 (GRCm39) |
|
probably benign |
Het |
Ric1 |
T |
C |
19: 29,555,047 (GRCm39) |
I387T |
probably benign |
Het |
Ruvbl1 |
A |
G |
6: 88,450,182 (GRCm39) |
R58G |
probably damaging |
Het |
Scarb1 |
C |
A |
5: 125,374,278 (GRCm39) |
|
probably benign |
Het |
Sh3tc1 |
A |
T |
5: 35,876,458 (GRCm39) |
|
probably benign |
Het |
Slc22a23 |
G |
A |
13: 34,379,462 (GRCm39) |
T435I |
probably damaging |
Het |
Slc22a26 |
A |
T |
19: 7,773,509 (GRCm39) |
|
probably benign |
Het |
Taf6l |
T |
C |
19: 8,750,733 (GRCm39) |
I114V |
probably benign |
Het |
Tbc1d8b |
A |
G |
X: 138,613,025 (GRCm39) |
S284G |
possibly damaging |
Het |
Tmem131l |
C |
T |
3: 83,842,122 (GRCm39) |
|
probably benign |
Het |
Vmn2r115 |
C |
T |
17: 23,565,238 (GRCm39) |
S375F |
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 |
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'- CAGAGACTGTGTAAAGCTTGCTGATCC -3'
(R):5'- GCCACAATCTGAGAACCGTTCAGTACC -3'
Sequencing Primer
(F):5'- AATCCTGTGACGTAGGTATCAG -3'
(R):5'- AACCGTTCAGTACCCTTATTTATTAG -3'
|
Posted On |
2013-07-30 |