Incidental Mutation 'R1036:Casq2'
| ID |
93775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casq2
|
| Ensembl Gene |
ENSMUSG00000027861 |
| Gene Name |
calsequestrin 2 |
| Synonyms |
cCSQ, Csq2, ESTM52, cardiac calsequestrin |
| MMRRC Submission |
039135-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1036 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
101993731-102053830 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 102049531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 295
(A295S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029454]
[ENSMUST00000164123]
[ENSMUST00000165540]
|
| AlphaFold |
O09161 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029454
AA Change: A292S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029454
Gene: ENSMUSG00000027861
AA Change: A292S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calsequestrin
|
1 |
382 |
1.4e-226 |
PFAM |
|
Pfam:Thioredoxin_6
|
171 |
364 |
7e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159521
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159833
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164123
AA Change: A221S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131232
Gene: ENSMUSG00000027861
AA Change: A221S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calsequestrin
|
2 |
108 |
1.3e-46 |
PFAM |
|
Pfam:Thioredoxin_6
|
101 |
293 |
6.1e-20 |
PFAM |
|
Pfam:Calsequestrin
|
106 |
311 |
1.9e-127 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165540
AA Change: A295S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130482
Gene: ENSMUSG00000027861
AA Change: A295S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calsequestrin
|
1 |
386 |
7.4e-224 |
PFAM |
|
Pfam:Thioredoxin_6
|
171 |
367 |
9.1e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197326
|
| Meta Mutation Damage Score |
0.2621 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 86.2%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene cause impaired intracellular calcium regulation in cardiac myocytes and lead to an arrhythmogenic syndrome called catecholaminergic polymorphic ventricular tachycardia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Abca12 |
A |
G |
1: 71,302,569 (GRCm39) |
|
probably null |
Het |
| Abcg1 |
C |
A |
17: 31,330,243 (GRCm39) |
Q515K |
probably damaging |
Het |
| Acaa1b |
A |
T |
9: 118,979,884 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
T |
C |
5: 89,843,952 (GRCm39) |
|
probably benign |
Het |
| Aoah |
A |
C |
13: 21,024,339 (GRCm39) |
|
probably benign |
Het |
| Arhgap10 |
G |
A |
8: 78,037,398 (GRCm39) |
P610L |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,945,397 (GRCm39) |
Y906H |
probably damaging |
Het |
| Dcaf13 |
T |
A |
15: 39,007,113 (GRCm39) |
I349N |
probably damaging |
Het |
| Ecd |
A |
G |
14: 20,383,386 (GRCm39) |
|
probably benign |
Het |
| Enpep |
C |
A |
3: 129,077,758 (GRCm39) |
V620L |
probably damaging |
Het |
| Fbln7 |
A |
G |
2: 128,735,815 (GRCm39) |
S268G |
possibly damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Gatd1 |
T |
A |
7: 140,989,045 (GRCm39) |
T205S |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,325,775 (GRCm39) |
V604E |
probably damaging |
Het |
| Ghsr |
T |
A |
3: 27,428,869 (GRCm39) |
I298N |
probably damaging |
Het |
| Glis1 |
T |
C |
4: 107,489,461 (GRCm39) |
Y683H |
probably benign |
Het |
| Gpr162 |
T |
A |
6: 124,837,823 (GRCm39) |
I276F |
probably damaging |
Het |
| Hps6 |
A |
G |
19: 45,992,680 (GRCm39) |
T206A |
probably benign |
Het |
| Kcnk10 |
T |
C |
12: 98,462,445 (GRCm39) |
|
probably benign |
Het |
| Krt90 |
A |
G |
15: 101,471,151 (GRCm39) |
V37A |
probably benign |
Het |
| Lmbr1 |
T |
C |
5: 29,463,745 (GRCm39) |
K160E |
probably damaging |
Het |
| Nif3l1 |
A |
G |
1: 58,487,032 (GRCm39) |
T73A |
probably damaging |
Het |
| Nup107 |
A |
T |
10: 117,593,199 (GRCm39) |
D826E |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,100,247 (GRCm39) |
|
probably benign |
Het |
| Omd |
A |
G |
13: 49,743,447 (GRCm39) |
R166G |
probably damaging |
Het |
| Plekha4 |
T |
C |
7: 45,199,400 (GRCm39) |
|
probably benign |
Het |
| Ptgdr |
A |
G |
14: 45,096,572 (GRCm39) |
S47P |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,742,965 (GRCm39) |
I940V |
probably benign |
Het |
| Shkbp1 |
A |
G |
7: 27,044,721 (GRCm39) |
S457P |
possibly damaging |
Het |
| Skint1 |
T |
C |
4: 111,876,493 (GRCm39) |
V138A |
possibly damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,838,193 (GRCm39) |
|
probably benign |
Het |
| Spata31e5 |
A |
G |
1: 28,816,883 (GRCm39) |
L383P |
probably benign |
Het |
| Srsf7 |
A |
T |
17: 80,513,266 (GRCm39) |
|
probably benign |
Het |
| Stau1 |
T |
C |
2: 166,793,235 (GRCm39) |
K300R |
probably damaging |
Het |
| Stox1 |
A |
T |
10: 62,503,674 (GRCm39) |
I127K |
probably damaging |
Het |
| Sympk |
G |
A |
7: 18,782,378 (GRCm39) |
R832Q |
probably damaging |
Het |
| Usp3 |
A |
G |
9: 66,437,513 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Casq2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00910:Casq2
|
APN |
3 |
102,017,547 (GRCm39) |
splice site |
probably benign |
|
|
IGL02597:Casq2
|
APN |
3 |
102,033,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02863:Casq2
|
APN |
3 |
102,051,491 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02902:Casq2
|
APN |
3 |
101,994,113 (GRCm39) |
nonsense |
probably null |
|
|
IGL03176:Casq2
|
APN |
3 |
102,033,970 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0126:Casq2
|
UTSW |
3 |
102,040,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0653:Casq2
|
UTSW |
3 |
102,020,482 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1052:Casq2
|
UTSW |
3 |
102,051,550 (GRCm39) |
splice site |
probably null |
|
|
R1158:Casq2
|
UTSW |
3 |
102,024,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2886:Casq2
|
UTSW |
3 |
102,051,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3001:Casq2
|
UTSW |
3 |
102,052,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3002:Casq2
|
UTSW |
3 |
102,052,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4155:Casq2
|
UTSW |
3 |
102,040,418 (GRCm39) |
splice site |
probably null |
|
|
R4715:Casq2
|
UTSW |
3 |
102,017,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6013:Casq2
|
UTSW |
3 |
102,052,945 (GRCm39) |
splice site |
probably null |
|
|
R6778:Casq2
|
UTSW |
3 |
102,035,247 (GRCm39) |
splice site |
probably null |
|
|
R6836:Casq2
|
UTSW |
3 |
101,994,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6844:Casq2
|
UTSW |
3 |
102,017,578 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7055:Casq2
|
UTSW |
3 |
102,049,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7638:Casq2
|
UTSW |
3 |
101,994,016 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7761:Casq2
|
UTSW |
3 |
102,052,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7997:Casq2
|
UTSW |
3 |
101,994,158 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8169:Casq2
|
UTSW |
3 |
102,017,628 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9060:Casq2
|
UTSW |
3 |
102,052,619 (GRCm39) |
missense |
unknown |
|
|
R9303:Casq2
|
UTSW |
3 |
102,052,700 (GRCm39) |
missense |
unknown |
|
|
R9305:Casq2
|
UTSW |
3 |
102,052,700 (GRCm39) |
missense |
unknown |
|
|
R9600:Casq2
|
UTSW |
3 |
102,052,622 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATTGTTTTCTGTGTCGAAGCTC -3'
(R):5'- CACACTCCATACGCATTAGCCTCTG -3'
Sequencing Primer
(F):5'- AAGCTCCTTTGTGTCTGCG -3'
(R):5'- TGGGCTTCTTCAAACACATTCAAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation