Incidental Mutation 'R7210:Ctnna3'
| ID |
561010 |
| 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 |
045239-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R7210 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
63265877-64839446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64086547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 373
(L373P)
|
| 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: L373P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: L373P
| 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: L373P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: L373P
| 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: L373P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: L373P
| 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 |
0.7893 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (60/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
G |
A |
11: 94,264,767 (GRCm39) |
P194S |
probably benign |
Het |
| Ackr2 |
C |
T |
9: 121,737,943 (GRCm39) |
A106V |
possibly damaging |
Het |
| Alg3 |
G |
A |
16: 20,424,644 (GRCm39) |
P112L |
unknown |
Het |
| Areg |
T |
A |
5: 91,288,764 (GRCm39) |
Y23* |
probably null |
Het |
| Aspn |
A |
G |
13: 49,719,967 (GRCm39) |
T328A |
probably benign |
Het |
| B020011L13Rik |
A |
T |
1: 117,729,241 (GRCm39) |
E249D |
possibly damaging |
Het |
| Bptf |
G |
A |
11: 106,945,290 (GRCm39) |
Q2650* |
probably null |
Het |
| Btbd3 |
A |
T |
2: 138,125,664 (GRCm39) |
R283W |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,955,615 (GRCm39) |
H1035R |
probably damaging |
Het |
| Cfap57 |
A |
T |
4: 118,433,900 (GRCm39) |
Y959* |
probably null |
Het |
| Cnot1 |
T |
C |
8: 96,515,286 (GRCm39) |
Y25C |
probably damaging |
Het |
| Crebbp |
G |
A |
16: 3,902,121 (GRCm39) |
H2373Y |
possibly damaging |
Het |
| Cyp8b1 |
T |
A |
9: 121,744,246 (GRCm39) |
D362V |
probably damaging |
Het |
| D630003M21Rik |
T |
A |
2: 158,057,932 (GRCm39) |
|
probably null |
Het |
| Dpp6 |
T |
C |
5: 27,803,801 (GRCm39) |
I249T |
probably damaging |
Het |
| Fam149b |
T |
G |
14: 20,428,540 (GRCm39) |
I475M |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,476,540 (GRCm39) |
Y1862C |
probably damaging |
Het |
| Fcrl5 |
A |
T |
3: 87,353,719 (GRCm39) |
N355Y |
possibly damaging |
Het |
| Fgd6 |
C |
T |
10: 93,969,954 (GRCm39) |
T1201I |
probably damaging |
Het |
| Fndc8 |
A |
T |
11: 82,788,692 (GRCm39) |
D174V |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,481,527 (GRCm39) |
H26R |
probably benign |
Het |
| Gm37240 |
T |
A |
3: 84,405,114 (GRCm39) |
T230S |
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,464,135 (GRCm39) |
Q609R |
probably damaging |
Het |
| Gse1 |
C |
A |
8: 120,957,441 (GRCm39) |
T644K |
unknown |
Het |
| Ifit1bl1 |
T |
G |
19: 34,571,564 (GRCm39) |
I298L |
probably benign |
Het |
| Il31ra |
T |
C |
13: 112,686,034 (GRCm39) |
D85G |
possibly damaging |
Het |
| Katnip |
T |
C |
7: 125,471,411 (GRCm39) |
V1504A |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,831,568 (GRCm39) |
L1664P |
probably damaging |
Het |
| Mrpl35 |
A |
G |
6: 71,794,722 (GRCm39) |
L82S |
possibly damaging |
Het |
| Myo7b |
G |
A |
18: 32,140,155 (GRCm39) |
R212C |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,154,114 (GRCm39) |
V684A |
probably damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nop58 |
G |
T |
1: 59,749,539 (GRCm39) |
|
probably null |
Het |
| Nudt13 |
T |
A |
14: 20,359,852 (GRCm39) |
I193N |
possibly damaging |
Het |
| Nyap1 |
C |
A |
5: 137,736,244 (GRCm39) |
R81L |
probably damaging |
Het |
| Or1e28-ps1 |
T |
C |
11: 73,615,699 (GRCm39) |
I50M |
possibly damaging |
Het |
| Oxct2b |
A |
C |
4: 123,010,069 (GRCm39) |
|
probably benign |
Het |
| Pcf11 |
C |
T |
7: 92,312,684 (GRCm39) |
A230T |
probably benign |
Het |
| Phactr4 |
A |
T |
4: 132,085,582 (GRCm39) |
*695R |
probably null |
Het |
| Pkd1 |
T |
C |
17: 24,794,840 (GRCm39) |
S2176P |
probably damaging |
Het |
| Plch2 |
C |
A |
4: 155,093,543 (GRCm39) |
R133L |
probably damaging |
Het |
| Ptprq |
G |
T |
10: 107,521,032 (GRCm39) |
N713K |
probably damaging |
Het |
| Ptrh2 |
A |
T |
11: 86,580,793 (GRCm39) |
T137S |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,138,945 (GRCm39) |
Y718C |
possibly damaging |
Het |
| Rftn1 |
T |
A |
17: 50,301,335 (GRCm39) |
R505* |
probably null |
Het |
| Rps15a |
A |
G |
7: 117,708,334 (GRCm39) |
F128L |
probably benign |
Het |
| Slc25a25 |
A |
T |
2: 32,310,408 (GRCm39) |
M177K |
possibly damaging |
Het |
| Smgc |
C |
A |
15: 91,744,492 (GRCm39) |
P631Q |
probably damaging |
Het |
| Sox2 |
T |
C |
3: 34,705,306 (GRCm39) |
S248P |
probably damaging |
Het |
| Sycp1 |
T |
C |
3: 102,760,808 (GRCm39) |
K702E |
probably damaging |
Het |
| Tes |
G |
T |
6: 17,104,761 (GRCm39) |
C414F |
probably damaging |
Het |
| Tet1 |
A |
T |
10: 62,650,280 (GRCm39) |
C14S |
probably null |
Het |
| Tle3 |
C |
T |
9: 61,319,587 (GRCm39) |
P452S |
probably damaging |
Het |
| Tmc6 |
A |
C |
11: 117,666,670 (GRCm39) |
L131R |
possibly damaging |
Het |
| Tnip3 |
C |
T |
6: 65,570,495 (GRCm39) |
R30* |
probably null |
Het |
| Tnrc6b |
G |
T |
15: 80,813,486 (GRCm39) |
G1748W |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,558,284 (GRCm39) |
D459A |
probably damaging |
Het |
| Zdhhc2 |
A |
T |
8: 40,920,480 (GRCm39) |
R246S |
probably damaging |
Het |
| Zscan22 |
T |
A |
7: 12,640,748 (GRCm39) |
C331S |
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 |
|
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 |
|
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'- GTGCTCATGAATCATATACAGTGTC -3'
(R):5'- CCTCTGTTTGCCACAAAACATTTGAG -3'
Sequencing Primer
(F):5'- CAGTGTCATAGCAGTTTTGAAAAC -3'
(R):5'- CATTTGAGGCATACGAATGTGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation