Incidental Mutation 'IGL02160:Ctnna3'
ID |
282440 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ctnna3
|
Ensembl Gene |
ENSMUSG00000060843 |
Gene Name |
catenin alpha 3 |
Synonyms |
4930429L08Rik, catenin (cadherin associated protein), alpha 3, alphaT-catenin, Vr22, Catna3 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.255)
|
Stock # |
IGL02160
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
63265877-64839446 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64086477 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 350
(T350A)
|
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: T350A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000074606 Gene: ENSMUSG00000060843 AA Change: T350A
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: T350A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101080 Gene: ENSMUSG00000060843 AA Change: T350A
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: T350A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101081 Gene: ENSMUSG00000060843 AA Change: T350A
Domain | Start | End | E-Value | Type |
Pfam:Vinculin
|
17 |
363 |
5.1e-66 |
PFAM |
Pfam:Vinculin
|
324 |
856 |
1e-175 |
PFAM |
|
Coding Region Coverage |
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat1 |
A |
G |
9: 53,503,287 (GRCm39) |
V184A |
probably benign |
Het |
Adam19 |
G |
A |
11: 46,030,522 (GRCm39) |
C750Y |
probably damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cabp2 |
T |
A |
19: 4,134,868 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
T |
C |
14: 55,731,015 (GRCm39) |
M94T |
possibly damaging |
Het |
Ccdc107 |
A |
G |
4: 43,495,736 (GRCm39) |
D213G |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,433,544 (GRCm39) |
|
probably benign |
Het |
Cfap251 |
A |
T |
5: 123,394,081 (GRCm39) |
E323D |
unknown |
Het |
Cfhr2 |
T |
A |
1: 139,738,664 (GRCm39) |
D299V |
probably benign |
Het |
Clcn7 |
T |
C |
17: 25,368,004 (GRCm39) |
|
probably benign |
Het |
Clspn |
G |
A |
4: 126,475,303 (GRCm39) |
E1019K |
probably benign |
Het |
Dmbt1 |
G |
A |
7: 130,684,418 (GRCm39) |
G638E |
probably damaging |
Het |
Ext2 |
A |
T |
2: 93,643,929 (GRCm39) |
D117E |
probably benign |
Het |
Fem1al |
A |
T |
11: 29,773,593 (GRCm39) |
Y621* |
probably null |
Het |
Ffar4 |
T |
A |
19: 38,085,903 (GRCm39) |
V110D |
possibly damaging |
Het |
Foxred2 |
G |
T |
15: 77,839,850 (GRCm39) |
Q147K |
probably benign |
Het |
Heatr9 |
T |
C |
11: 83,409,651 (GRCm39) |
D107G |
probably benign |
Het |
Hmgxb3 |
G |
A |
18: 61,304,308 (GRCm39) |
A94V |
probably damaging |
Het |
Htr5b |
A |
T |
1: 121,455,774 (GRCm39) |
S49T |
possibly damaging |
Het |
Il1rl1 |
A |
T |
1: 40,500,997 (GRCm39) |
M458L |
probably benign |
Het |
Il23r |
A |
T |
6: 67,400,562 (GRCm39) |
N589K |
probably benign |
Het |
Kbtbd11 |
G |
A |
8: 15,078,801 (GRCm39) |
V467M |
probably damaging |
Het |
Kidins220 |
T |
A |
12: 25,054,110 (GRCm39) |
Y537N |
probably damaging |
Het |
Kif27 |
T |
A |
13: 58,473,812 (GRCm39) |
E728D |
probably damaging |
Het |
Lum |
T |
C |
10: 97,404,443 (GRCm39) |
S113P |
probably damaging |
Het |
Mkln1 |
A |
G |
6: 31,469,726 (GRCm39) |
|
probably benign |
Het |
Mmp17 |
A |
G |
5: 129,672,633 (GRCm39) |
D195G |
possibly damaging |
Het |
Naa38 |
T |
A |
11: 69,287,194 (GRCm39) |
|
probably benign |
Het |
Naalad2 |
G |
A |
9: 18,291,233 (GRCm39) |
A191V |
probably damaging |
Het |
Naip6 |
A |
T |
13: 100,435,933 (GRCm39) |
H863Q |
probably benign |
Het |
Ncoa6 |
A |
G |
2: 155,263,003 (GRCm39) |
V477A |
possibly damaging |
Het |
Nipal3 |
G |
T |
4: 135,201,728 (GRCm39) |
Y153* |
probably null |
Het |
Or10s1 |
A |
T |
9: 39,986,482 (GRCm39) |
N297I |
probably damaging |
Het |
Or13d1 |
A |
G |
4: 52,971,194 (GRCm39) |
D191G |
probably damaging |
Het |
Or4c12 |
G |
T |
2: 89,774,149 (GRCm39) |
H103Q |
probably damaging |
Het |
Or4g16 |
G |
A |
2: 111,137,143 (GRCm39) |
V198I |
probably benign |
Het |
Or9s23 |
T |
A |
1: 92,501,079 (GRCm39) |
L62Q |
probably damaging |
Het |
Pik3c2a |
G |
A |
7: 115,987,299 (GRCm39) |
P541S |
probably damaging |
Het |
Ppargc1b |
A |
T |
18: 61,443,506 (GRCm39) |
D552E |
probably damaging |
Het |
Ppfia3 |
C |
A |
7: 45,009,475 (GRCm39) |
|
probably benign |
Het |
Prcp |
G |
A |
7: 92,566,969 (GRCm39) |
S227N |
probably benign |
Het |
Ptprq |
T |
A |
10: 107,489,426 (GRCm39) |
T900S |
probably benign |
Het |
Ralgapa2 |
G |
A |
2: 146,190,360 (GRCm39) |
|
probably benign |
Het |
Rcsd1 |
A |
G |
1: 165,485,148 (GRCm39) |
S102P |
probably damaging |
Het |
Rfwd3 |
T |
A |
8: 111,999,707 (GRCm39) |
N757I |
possibly damaging |
Het |
Rnf217 |
A |
T |
10: 31,381,767 (GRCm39) |
|
probably null |
Het |
Scn2a |
A |
G |
2: 65,560,460 (GRCm39) |
D1230G |
probably damaging |
Het |
Sdc3 |
T |
C |
4: 130,545,886 (GRCm39) |
|
probably benign |
Het |
Slc27a4 |
G |
T |
2: 29,695,974 (GRCm39) |
D170Y |
probably benign |
Het |
Tcof1 |
A |
G |
18: 60,981,815 (GRCm39) |
|
probably benign |
Het |
Ticam1 |
T |
A |
17: 56,577,560 (GRCm39) |
I512F |
possibly damaging |
Het |
Ticrr |
T |
C |
7: 79,343,767 (GRCm39) |
C1211R |
probably benign |
Het |
Tlr2 |
A |
T |
3: 83,744,678 (GRCm39) |
N468K |
possibly damaging |
Het |
Tmod4 |
T |
C |
3: 95,036,424 (GRCm39) |
|
probably benign |
Het |
Tnxb |
T |
C |
17: 34,933,719 (GRCm39) |
S2380P |
probably benign |
Het |
Top6bl |
T |
C |
19: 4,713,612 (GRCm39) |
D276G |
probably damaging |
Het |
Tox |
A |
G |
4: 6,711,537 (GRCm39) |
V309A |
probably damaging |
Het |
Tpgs2 |
A |
G |
18: 25,273,637 (GRCm39) |
F175L |
possibly damaging |
Het |
Trim43b |
A |
G |
9: 88,973,683 (GRCm39) |
S17P |
probably benign |
Het |
Ttc21a |
G |
T |
9: 119,785,989 (GRCm39) |
L662F |
probably damaging |
Het |
Ubqln1 |
A |
T |
13: 58,339,951 (GRCm39) |
N261K |
probably damaging |
Het |
Umodl1 |
T |
C |
17: 31,205,091 (GRCm39) |
V562A |
probably damaging |
Het |
Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
Vars1 |
T |
A |
17: 35,220,478 (GRCm39) |
I20N |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,832,612 (GRCm39) |
N3092D |
probably damaging |
Het |
Zc3h6 |
G |
T |
2: 128,839,605 (GRCm39) |
E139D |
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 |
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 |
|
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 |
|
Posted On |
2015-04-16 |