Incidental Mutation 'IGL02267:Ctnna3'
| ID |
286954 |
| 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 # |
IGL02267
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
63265877-64839446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 64781777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 747
(V747F)
|
| 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: V747F
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: V747F
| 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: V747F
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: V747F
| 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: V747F
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: V747F
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
G |
11: 50,683,505 (GRCm39) |
Q929R |
probably benign |
Het |
| Aplf |
A |
T |
6: 87,635,946 (GRCm39) |
D122E |
probably damaging |
Het |
| Atp2a3 |
T |
A |
11: 72,878,810 (GRCm39) |
L874Q |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,770,691 (GRCm39) |
L406Q |
probably damaging |
Het |
| Atp6v1b1 |
A |
G |
6: 83,733,891 (GRCm39) |
D374G |
probably benign |
Het |
| Bcas1 |
T |
A |
2: 170,220,708 (GRCm39) |
R239* |
probably null |
Het |
| Bhmt2 |
A |
G |
13: 93,805,854 (GRCm39) |
V56A |
probably damaging |
Het |
| Cage1 |
T |
C |
13: 38,207,233 (GRCm39) |
E204G |
probably damaging |
Het |
| Ccdc157 |
G |
A |
11: 4,094,035 (GRCm39) |
A532V |
probably benign |
Het |
| Cd300lb |
G |
A |
11: 114,819,303 (GRCm39) |
R109* |
probably null |
Het |
| Clca4c-ps |
T |
C |
3: 144,585,516 (GRCm39) |
|
noncoding transcript |
Het |
| Cyp2c29 |
A |
T |
19: 39,318,866 (GRCm39) |
I488F |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,935,362 (GRCm39) |
M85V |
possibly damaging |
Het |
| Dnah7b |
T |
A |
1: 46,266,090 (GRCm39) |
Y2220N |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,224,099 (GRCm39) |
I1217V |
probably benign |
Het |
| Exoc2 |
A |
G |
13: 30,999,304 (GRCm39) |
S918P |
probably benign |
Het |
| Fer1l4 |
T |
A |
2: 155,873,172 (GRCm39) |
I1303F |
possibly damaging |
Het |
| Gm28047 |
A |
T |
15: 102,455,662 (GRCm39) |
I234K |
probably damaging |
Het |
| Gpcpd1 |
A |
G |
2: 132,410,630 (GRCm39) |
V19A |
probably damaging |
Het |
| Gprin3 |
A |
G |
6: 59,331,458 (GRCm39) |
V283A |
probably benign |
Het |
| Grb14 |
A |
G |
2: 64,783,960 (GRCm39) |
Y56H |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,767,209 (GRCm39) |
F331S |
probably benign |
Het |
| Iigp1c |
T |
G |
18: 60,379,470 (GRCm39) |
V335G |
probably damaging |
Het |
| Jkamp |
A |
G |
12: 72,141,591 (GRCm39) |
Y198C |
probably damaging |
Het |
| Klk1b11 |
G |
T |
7: 43,649,165 (GRCm39) |
C234F |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,552,649 (GRCm39) |
T181A |
probably benign |
Het |
| Or1e23 |
A |
G |
11: 73,407,375 (GRCm39) |
S217P |
probably benign |
Het |
| Or2m13 |
A |
T |
16: 19,225,914 (GRCm39) |
L285Q |
possibly damaging |
Het |
| Or5ak4 |
T |
A |
2: 85,161,465 (GRCm39) |
Y259F |
probably damaging |
Het |
| Pitpnm3 |
A |
T |
11: 71,962,274 (GRCm39) |
I227N |
probably benign |
Het |
| Pnn |
A |
G |
12: 59,116,995 (GRCm39) |
E189G |
probably damaging |
Het |
| Pnpla2 |
C |
A |
7: 141,038,122 (GRCm39) |
P197T |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,567,327 (GRCm39) |
T62A |
probably benign |
Het |
| Ptprq |
G |
T |
10: 107,482,419 (GRCm39) |
D1051E |
probably damaging |
Het |
| Rag2 |
C |
T |
2: 101,460,376 (GRCm39) |
R229C |
probably damaging |
Het |
| Serinc1 |
A |
T |
10: 57,399,204 (GRCm39) |
I196N |
probably damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,680,583 (GRCm39) |
C43R |
probably damaging |
Het |
| Slc2a3 |
A |
T |
6: 122,716,931 (GRCm39) |
Y44N |
probably benign |
Het |
| Smad5 |
T |
G |
13: 56,883,603 (GRCm39) |
|
probably benign |
Het |
| Sugct |
C |
A |
13: 17,819,450 (GRCm39) |
V132F |
possibly damaging |
Het |
| Supt6 |
T |
C |
11: 78,117,030 (GRCm39) |
E568G |
possibly damaging |
Het |
| Tfpt |
T |
C |
7: 3,631,982 (GRCm39) |
T43A |
probably damaging |
Het |
| Timp4 |
A |
T |
6: 115,224,240 (GRCm39) |
V143E |
possibly damaging |
Het |
| Tns1 |
T |
C |
1: 74,031,290 (GRCm39) |
D275G |
possibly damaging |
Het |
| Trib1 |
A |
G |
15: 59,523,449 (GRCm39) |
E161G |
probably damaging |
Het |
| Trpc7 |
A |
T |
13: 57,008,743 (GRCm39) |
L308Q |
probably damaging |
Het |
| Ush1c |
A |
T |
7: 45,858,722 (GRCm39) |
V522E |
possibly damaging |
Het |
| Usp28 |
T |
C |
9: 48,935,265 (GRCm39) |
V449A |
probably damaging |
Het |
| Vmn1r82 |
A |
G |
7: 12,039,273 (GRCm39) |
Y64C |
probably damaging |
Het |
| Wwox |
G |
A |
8: 115,438,805 (GRCm39) |
M290I |
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 |
|
|
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 |
Incidental Mutation