Incidental Mutation 'R2088:Ctnna3'
ID |
231595 |
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 |
040093-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.255)
|
Stock # |
R2088 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
63265877-64839446 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64708986 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 675
(E675G)
|
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: E675G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000074606 Gene: ENSMUSG00000060843 AA Change: E675G
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: E675G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000101080 Gene: ENSMUSG00000060843 AA Change: E675G
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: E675G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000101081 Gene: ENSMUSG00000060843 AA Change: E675G
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 |
0.1724 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
97% (66/68) |
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 |
Ankk1 |
T |
C |
9: 49,333,265 (GRCm39) |
|
probably benign |
Het |
Ano5 |
T |
A |
7: 51,237,454 (GRCm39) |
N759K |
possibly damaging |
Het |
Arhgef10 |
A |
G |
8: 15,033,898 (GRCm39) |
T1072A |
possibly damaging |
Het |
BC107364 |
T |
C |
3: 96,341,745 (GRCm39) |
T93A |
unknown |
Het |
Canx |
C |
T |
11: 50,201,217 (GRCm39) |
E97K |
possibly damaging |
Het |
Casp8ap2 |
T |
C |
4: 32,631,126 (GRCm39) |
L62P |
probably damaging |
Het |
Cbfa2t3 |
C |
T |
8: 123,364,725 (GRCm39) |
|
probably benign |
Het |
Cmklr2 |
A |
T |
1: 63,222,811 (GRCm39) |
|
probably null |
Het |
Cmya5 |
A |
T |
13: 93,229,320 (GRCm39) |
S1923T |
probably damaging |
Het |
Cntnap1 |
T |
A |
11: 101,073,373 (GRCm39) |
I618N |
probably damaging |
Het |
Cox17 |
C |
G |
16: 38,167,542 (GRCm39) |
P27R |
probably damaging |
Het |
Cul9 |
A |
G |
17: 46,837,575 (GRCm39) |
L990P |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Eif2d |
T |
C |
1: 131,092,464 (GRCm39) |
V374A |
probably damaging |
Het |
Fhdc1 |
T |
C |
3: 84,382,033 (GRCm39) |
|
probably benign |
Het |
Fryl |
T |
A |
5: 73,222,804 (GRCm39) |
I1926F |
probably benign |
Het |
Galnt4 |
A |
G |
10: 98,945,046 (GRCm39) |
D257G |
probably damaging |
Het |
Gatm |
A |
G |
2: 122,428,629 (GRCm39) |
V344A |
probably benign |
Het |
Gli1 |
T |
G |
10: 127,167,369 (GRCm39) |
Y628S |
probably damaging |
Het |
Gsdmc3 |
A |
C |
15: 63,732,063 (GRCm39) |
|
probably null |
Het |
Hap1 |
T |
C |
11: 100,246,828 (GRCm39) |
T26A |
probably benign |
Het |
Helz2 |
C |
T |
2: 180,876,895 (GRCm39) |
G1200S |
probably benign |
Het |
Insyn1 |
T |
C |
9: 58,406,288 (GRCm39) |
F66S |
probably damaging |
Het |
Iqgap2 |
C |
T |
13: 96,028,171 (GRCm39) |
|
probably null |
Het |
Itga3 |
T |
A |
11: 94,943,320 (GRCm39) |
I895F |
probably benign |
Het |
Klhl33 |
A |
T |
14: 51,130,230 (GRCm39) |
C421* |
probably null |
Het |
Klra2 |
T |
C |
6: 131,219,789 (GRCm39) |
T131A |
probably damaging |
Het |
Krt14 |
T |
C |
11: 100,094,949 (GRCm39) |
E426G |
possibly damaging |
Het |
Limd2 |
A |
G |
11: 106,049,568 (GRCm39) |
F107L |
probably damaging |
Het |
Lipo4 |
A |
T |
19: 33,477,469 (GRCm39) |
N318K |
possibly damaging |
Het |
Mab21l2 |
T |
G |
3: 86,454,316 (GRCm39) |
D228A |
probably damaging |
Het |
Moxd2 |
G |
A |
6: 40,861,901 (GRCm39) |
H224Y |
probably damaging |
Het |
Mpp4 |
T |
C |
1: 59,162,624 (GRCm39) |
Y521C |
possibly damaging |
Het |
Msto1 |
C |
T |
3: 88,818,297 (GRCm39) |
A317T |
probably damaging |
Het |
Mtmr4 |
T |
C |
11: 87,501,793 (GRCm39) |
S559P |
probably damaging |
Het |
Muc4 |
T |
A |
16: 32,576,783 (GRCm39) |
H2094Q |
unknown |
Het |
Ndufa11 |
C |
A |
17: 57,024,922 (GRCm39) |
T28K |
probably damaging |
Het |
Or2b4 |
A |
G |
17: 38,116,686 (GRCm39) |
T217A |
probably benign |
Het |
Or4f4b |
G |
T |
2: 111,314,623 (GRCm39) |
A283S |
probably damaging |
Het |
Orai2 |
C |
A |
5: 136,179,610 (GRCm39) |
R155L |
probably damaging |
Het |
Pde4c |
A |
G |
8: 71,202,005 (GRCm39) |
D582G |
possibly damaging |
Het |
Pde4dip |
T |
C |
3: 97,661,749 (GRCm39) |
E609G |
probably null |
Het |
Prune2 |
A |
G |
19: 17,097,109 (GRCm39) |
D871G |
possibly damaging |
Het |
Rbpms2 |
T |
A |
9: 65,538,121 (GRCm39) |
L4Q |
probably damaging |
Het |
Rhbg |
T |
C |
3: 88,154,765 (GRCm39) |
Y213C |
probably damaging |
Het |
Rplp0 |
T |
A |
5: 115,700,562 (GRCm39) |
N243K |
possibly damaging |
Het |
Rtp4 |
A |
T |
16: 23,431,963 (GRCm39) |
H165L |
possibly damaging |
Het |
Ryr2 |
C |
A |
13: 11,677,115 (GRCm39) |
M3245I |
probably benign |
Het |
Sh2b2 |
T |
A |
5: 136,260,968 (GRCm39) |
M83L |
possibly damaging |
Het |
Simc1 |
T |
C |
13: 54,689,347 (GRCm39) |
I284T |
probably damaging |
Het |
Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
Slc46a1 |
T |
C |
11: 78,359,471 (GRCm39) |
S368P |
possibly damaging |
Het |
St6galnac1 |
A |
G |
11: 116,659,933 (GRCm39) |
S127P |
probably benign |
Het |
Tatdn3 |
A |
G |
1: 190,785,073 (GRCm39) |
I192T |
possibly damaging |
Het |
Tmem25 |
C |
A |
9: 44,707,383 (GRCm39) |
V239F |
possibly damaging |
Het |
Tprkb |
A |
C |
6: 85,909,922 (GRCm39) |
|
probably benign |
Het |
Trappc10 |
A |
G |
10: 78,032,168 (GRCm39) |
V1040A |
probably benign |
Het |
Txnrd1 |
G |
A |
10: 82,719,744 (GRCm39) |
|
probably benign |
Het |
Uhrf1 |
A |
T |
17: 56,625,089 (GRCm39) |
K544M |
probably damaging |
Het |
Unc80 |
T |
A |
1: 66,629,386 (GRCm39) |
H1294Q |
possibly damaging |
Het |
Uspl1 |
T |
A |
5: 149,146,560 (GRCm39) |
I437K |
probably damaging |
Het |
Vmn1r232 |
A |
T |
17: 21,133,999 (GRCm39) |
N200K |
possibly damaging |
Het |
Vmn2r19 |
A |
T |
6: 123,312,795 (GRCm39) |
I622F |
probably damaging |
Het |
Znfx1 |
A |
G |
2: 166,897,730 (GRCm39) |
F398S |
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 |
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 |
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'- GACACCATAGGCTACCTTCCTAATC -3'
(R):5'- TGCCATCCATCGATTAACACAG -3'
Sequencing Primer
(F):5'- CTTCCTAAAGTGCTGCTC -3'
(R):5'- TCGATTAACACAGCATCATTCCTG -3'
|
Posted On |
2014-09-18 |