Incidental Mutation 'R1052:Casq2'
| ID |
94027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casq2
|
| Ensembl Gene |
ENSMUSG00000027861 |
| Gene Name |
calsequestrin 2 |
| Synonyms |
cCSQ, Csq2, ESTM52, cardiac calsequestrin |
| MMRRC Submission |
039142-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1052 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
101993731-102053830 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 102051550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029454]
[ENSMUST00000164123]
[ENSMUST00000164123]
[ENSMUST00000165540]
|
| AlphaFold |
O09161 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029454
|
| SMART Domains |
Protein: ENSMUSP00000029454
Gene: ENSMUSG00000027861
| 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 null
Transcript: ENSMUST00000164123
|
| SMART Domains |
Protein: ENSMUSP00000131232
Gene: ENSMUSG00000027861
| 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 null
Transcript: ENSMUST00000164123
|
| SMART Domains |
Protein: ENSMUSP00000131232
Gene: ENSMUSG00000027861
| 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 null
Transcript: ENSMUST00000165540
|
| SMART Domains |
Protein: ENSMUSP00000130482
Gene: ENSMUSG00000027861
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calsequestrin
|
1 |
386 |
7.4e-224 |
PFAM |
|
Pfam:Thioredoxin_6
|
171 |
367 |
9.1e-20 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
T |
2: 103,535,417 (GRCm39) |
Y528F |
possibly damaging |
Het |
| Acad10 |
G |
A |
5: 121,787,604 (GRCm39) |
T115I |
possibly damaging |
Het |
| Adam19 |
T |
C |
11: 46,018,092 (GRCm39) |
F385L |
probably damaging |
Het |
| Adgb |
T |
C |
10: 10,318,357 (GRCm39) |
N162D |
probably benign |
Het |
| Arhgap20 |
C |
A |
9: 51,757,570 (GRCm39) |
P521T |
probably damaging |
Het |
| Arsa |
A |
T |
15: 89,359,380 (GRCm39) |
L134Q |
probably damaging |
Het |
| Atp5f1b |
A |
G |
10: 127,925,921 (GRCm39) |
Y508C |
probably damaging |
Het |
| AW554918 |
G |
A |
18: 25,553,067 (GRCm39) |
M287I |
probably benign |
Het |
| Bmp4 |
T |
C |
14: 46,621,360 (GRCm39) |
K395E |
probably damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,277,294 (GRCm39) |
Y669C |
probably damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,202,519 (GRCm39) |
I237N |
possibly damaging |
Het |
| Cerk |
G |
C |
15: 86,033,565 (GRCm39) |
S286C |
possibly damaging |
Het |
| Cir1 |
A |
C |
2: 73,117,987 (GRCm39) |
L186R |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,936,781 (GRCm39) |
|
probably null |
Het |
| Cyp3a41a |
A |
T |
5: 145,642,621 (GRCm39) |
I246K |
possibly damaging |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,348 (GRCm39) |
F328S |
possibly damaging |
Het |
| Dzank1 |
A |
T |
2: 144,355,365 (GRCm39) |
V110D |
probably benign |
Het |
| Gm6729 |
T |
A |
10: 86,376,799 (GRCm39) |
|
noncoding transcript |
Het |
| Gnpat |
T |
C |
8: 125,604,246 (GRCm39) |
F246L |
probably benign |
Het |
| Gnpat |
T |
A |
8: 125,605,255 (GRCm39) |
L248H |
probably damaging |
Het |
| Gstm7 |
T |
C |
3: 107,834,266 (GRCm39) |
T163A |
probably benign |
Het |
| Hspa5 |
A |
G |
2: 34,665,110 (GRCm39) |
T424A |
probably damaging |
Het |
| Itgb1 |
T |
G |
8: 129,439,786 (GRCm39) |
D158E |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,819,853 (GRCm39) |
V1637A |
probably benign |
Het |
| Kl |
G |
T |
5: 150,905,985 (GRCm39) |
V452F |
probably damaging |
Het |
| Krt23 |
T |
C |
11: 99,369,045 (GRCm39) |
N416S |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,968,241 (GRCm39) |
H1461L |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,818,814 (GRCm39) |
T1180A |
probably benign |
Het |
| Mboat2 |
T |
C |
12: 24,996,527 (GRCm39) |
Y145H |
probably damaging |
Het |
| Mlxipl |
T |
A |
5: 135,142,564 (GRCm39) |
I126N |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,620,181 (GRCm39) |
N1577K |
possibly damaging |
Het |
| Nlrp4f |
A |
G |
13: 65,332,897 (GRCm39) |
V87A |
possibly damaging |
Het |
| Or5al5 |
A |
G |
2: 85,961,915 (GRCm39) |
F31L |
probably benign |
Het |
| Or6p1 |
A |
T |
1: 174,258,701 (GRCm39) |
K236* |
probably null |
Het |
| Pask |
A |
T |
1: 93,258,549 (GRCm39) |
D266E |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,899 (GRCm39) |
Y563C |
probably damaging |
Het |
| Pdlim3 |
T |
A |
8: 46,349,837 (GRCm39) |
I49N |
probably damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,077,334 (GRCm39) |
V292E |
possibly damaging |
Het |
| Pramel23 |
T |
C |
4: 143,423,477 (GRCm39) |
I437M |
possibly damaging |
Het |
| Prrt4 |
G |
T |
6: 29,169,813 (GRCm39) |
Q880K |
possibly damaging |
Het |
| Pygb |
A |
G |
2: 150,628,858 (GRCm39) |
D24G |
probably benign |
Het |
| R3hcc1l |
T |
A |
19: 42,552,093 (GRCm39) |
D363E |
probably damaging |
Het |
| Rif1 |
A |
C |
2: 52,001,574 (GRCm39) |
Q1676P |
probably benign |
Het |
| Ryr1 |
C |
A |
7: 28,795,683 (GRCm39) |
R1069L |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Slc2a13 |
A |
G |
15: 91,296,363 (GRCm39) |
V317A |
probably damaging |
Het |
| Slc35b4 |
A |
T |
6: 34,138,619 (GRCm39) |
F197I |
probably damaging |
Het |
| Tchhl1 |
G |
A |
3: 93,377,520 (GRCm39) |
V75I |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,182,771 (GRCm39) |
S3521P |
possibly damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp335 |
GTCCTCCTCCTCCTCCTC |
GTCCTCCTCCTCCTC |
2: 164,749,388 (GRCm39) |
|
probably benign |
Het |
| Zfp874a |
T |
G |
13: 67,590,539 (GRCm39) |
I382L |
possibly damaging |
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 |
|
|
R1036:Casq2
|
UTSW |
3 |
102,049,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AACCAGTCCCTATCCGGCTACTATG -3'
(R):5'- TTGGGCGGAAAGTCCTAAGTCAATG -3'
Sequencing Primer
(F):5'- CTATCCGGCTACTATGGAAGG -3'
(R):5'- GTCCTAAGTCAATGAGTCGGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation