Incidental Mutation 'R7680:Ctnna3'
| ID |
592713 |
| 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 |
045746-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R7680 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
63265877-64839446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64323329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 488
(H488L)
|
| 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: H488L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: H488L
| 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: H488L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: H488L
| 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: H488L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: H488L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
17 |
363 |
5.1e-66 |
PFAM |
|
Pfam:Vinculin
|
324 |
856 |
1e-175 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (53/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510002D24Rik |
A |
G |
16: 18,657,958 (GRCm39) |
D104G |
possibly damaging |
Het |
| Ahi1 |
G |
T |
10: 20,883,667 (GRCm39) |
C844F |
possibly damaging |
Het |
| Bspry |
T |
C |
4: 62,414,828 (GRCm39) |
*474Q |
probably null |
Het |
| Car9 |
T |
A |
4: 43,507,250 (GRCm39) |
D65E |
probably damaging |
Het |
| Ccdc110 |
T |
A |
8: 46,394,688 (GRCm39) |
M193K |
possibly damaging |
Het |
| Ccdc166 |
A |
G |
15: 75,853,056 (GRCm39) |
S304P |
possibly damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,012,584 (GRCm39) |
Q321R |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,991,856 (GRCm39) |
V2255A |
probably damaging |
Het |
| Cmc2 |
A |
T |
8: 117,620,849 (GRCm39) |
M44K |
probably damaging |
Het |
| Crls1 |
A |
G |
2: 132,704,258 (GRCm39) |
T223A |
probably damaging |
Het |
| Cyp2r1 |
A |
T |
7: 114,152,054 (GRCm39) |
I301N |
probably damaging |
Het |
| Dkk3 |
A |
T |
7: 111,718,570 (GRCm39) |
L272Q |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,513,365 (GRCm39) |
N1906S |
probably benign |
Het |
| Gm13271 |
T |
C |
4: 88,673,367 (GRCm39) |
V88A |
probably benign |
Het |
| Gphn |
C |
A |
12: 78,459,148 (GRCm39) |
L79I |
probably benign |
Het |
| Gpr15 |
A |
T |
16: 58,538,328 (GRCm39) |
W254R |
probably damaging |
Het |
| H2-M2 |
T |
C |
17: 37,793,916 (GRCm39) |
R103G |
possibly damaging |
Het |
| Hcn4 |
T |
C |
9: 58,767,954 (GRCm39) |
S1172P |
probably benign |
Het |
| Htr1a |
A |
G |
13: 105,581,539 (GRCm39) |
S260G |
probably benign |
Het |
| Iftap |
T |
C |
2: 101,440,901 (GRCm39) |
E34G |
probably damaging |
Het |
| Kif21b |
G |
T |
1: 136,075,607 (GRCm39) |
|
probably null |
Het |
| Lamp1 |
T |
C |
8: 13,217,812 (GRCm39) |
Y131H |
probably benign |
Het |
| Lrrc47 |
A |
C |
4: 154,100,558 (GRCm39) |
N378T |
probably benign |
Het |
| Manea |
A |
T |
4: 26,340,649 (GRCm39) |
H104Q |
probably damaging |
Het |
| Map4k3 |
A |
G |
17: 80,889,305 (GRCm39) |
I888T |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,613,207 (GRCm39) |
M557T |
probably benign |
Het |
| Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
| Myh6 |
C |
A |
14: 55,186,190 (GRCm39) |
C1413F |
possibly damaging |
Het |
| Myorg |
C |
A |
4: 41,497,978 (GRCm39) |
D551Y |
probably damaging |
Het |
| Ncr1 |
T |
A |
7: 4,341,123 (GRCm39) |
M38K |
possibly damaging |
Het |
| Nid2 |
A |
G |
14: 19,829,715 (GRCm39) |
T669A |
probably damaging |
Het |
| Or6e1 |
T |
A |
14: 54,519,837 (GRCm39) |
I172F |
probably damaging |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,763,511 (GRCm39) |
Y364H |
probably benign |
Het |
| Plxnb1 |
T |
A |
9: 108,929,571 (GRCm39) |
Y142* |
probably null |
Het |
| Ptprn |
T |
C |
1: 75,224,537 (GRCm39) |
I940V |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,370,382 (GRCm39) |
V4728A |
|
Het |
| Samd9l |
A |
T |
6: 3,372,569 (GRCm39) |
L1564Q |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,376,469 (GRCm39) |
I264T |
probably damaging |
Het |
| Slc16a7 |
T |
C |
10: 125,066,805 (GRCm39) |
D278G |
probably benign |
Het |
| Slc35f2 |
T |
A |
9: 53,715,396 (GRCm39) |
V214E |
probably damaging |
Het |
| Slc7a5 |
A |
C |
8: 122,634,006 (GRCm39) |
S114A |
probably damaging |
Het |
| St6galnac3 |
A |
G |
3: 152,911,047 (GRCm39) |
S305P |
probably damaging |
Het |
| Stat1 |
G |
A |
1: 52,183,368 (GRCm39) |
R378Q |
probably damaging |
Het |
| Tnfrsf9 |
T |
G |
4: 151,014,395 (GRCm39) |
C31W |
probably damaging |
Het |
| Tnk1 |
T |
C |
11: 69,747,571 (GRCm39) |
E61G |
possibly damaging |
Het |
| Tnks1bp1 |
T |
A |
2: 84,889,585 (GRCm39) |
D637E |
probably benign |
Het |
| Ttc17 |
C |
T |
2: 94,196,889 (GRCm39) |
G486D |
probably benign |
Het |
| Vmn1r30 |
T |
A |
6: 58,412,284 (GRCm39) |
R183* |
probably null |
Het |
| Vmn2r78 |
A |
G |
7: 86,604,149 (GRCm39) |
T776A |
probably damaging |
Het |
| Wrap73 |
A |
G |
4: 154,241,079 (GRCm39) |
E444G |
probably benign |
Het |
| Zc3h13 |
C |
T |
14: 75,567,955 (GRCm39) |
R1083C |
probably damaging |
Het |
| Zfp189 |
A |
G |
4: 49,521,547 (GRCm39) |
|
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 |
|
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 |
|
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'- AAAGAGTACCTGCAGTCTGC -3'
(R):5'- AGTAATGCATTTCCACACTCCC -3'
Sequencing Primer
(F):5'- CTGCATATTGGCTTTTGTTTTCAACG -3'
(R):5'- CTACATATGGACCATAGCATGTGCAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation