Incidental Mutation 'R1158:Casq2'
ID101860
Institutional Source Beutler Lab
Gene Symbol Casq2
Ensembl Gene ENSMUSG00000027861
Gene Namecalsequestrin 2
SynonymsESTM52, cCSQ, cardiac calsequestrin
MMRRC Submission 039231-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1158 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location102086415-102146514 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102116883 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 147 (E147G)
Ref Sequence ENSEMBL: ENSMUSP00000130482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029454] [ENSMUST00000164123] [ENSMUST00000165540]
Predicted Effect probably damaging
Transcript: ENSMUST00000029454
AA Change: E147G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029454
Gene: ENSMUSG00000027861
AA Change: E147G

DomainStartEndE-ValueType
Pfam:Calsequestrin 1 382 1.4e-226 PFAM
Pfam:Thioredoxin_6 171 364 7e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164123
SMART Domains Protein: ENSMUSP00000131232
Gene: ENSMUSG00000027861

DomainStartEndE-ValueType
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: E147G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130482
Gene: ENSMUSG00000027861
AA Change: E147G

DomainStartEndE-ValueType
Pfam:Calsequestrin 1 386 7.4e-224 PFAM
Pfam:Thioredoxin_6 171 367 9.1e-20 PFAM
Meta Mutation Damage Score 0.8520 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 98% (43/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adpgk T C 9: 59,310,283 V193A possibly damaging Het
Ahnak A C 19: 9,013,926 E4191D probably benign Het
BC024139 T A 15: 76,120,342 probably benign Het
Bpifb9a T G 2: 154,262,264 I209S probably benign Het
Bst1 T G 5: 43,840,492 probably null Het
Cacna1c C T 6: 118,612,625 R1446H probably damaging Het
Carf A G 1: 60,147,839 K499E probably benign Het
Cd8a T A 6: 71,373,728 V59D probably damaging Het
Chrm5 T C 2: 112,479,869 T301A probably benign Het
Cog5 G A 12: 31,870,057 probably benign Het
Csmd3 T C 15: 48,292,774 probably null Het
Dopey1 T C 9: 86,485,556 S31P probably damaging Het
Epb41 T C 4: 132,000,191 probably benign Het
Fhod3 C T 18: 24,985,236 A210V probably damaging Het
Gdpgp1 T C 7: 80,238,502 F94L probably benign Het
Gm10264 A T 12: 88,329,668 I139F unknown Het
Hlx G T 1: 184,731,987 A52D probably damaging Het
Htr3b T C 9: 48,936,090 K375R possibly damaging Het
Inhbe G A 10: 127,351,317 R77W probably damaging Het
Itgb8 T C 12: 119,202,496 E100G probably damaging Het
Jakmip1 T C 5: 37,091,128 V44A possibly damaging Het
Lrp12 A G 15: 39,878,431 V315A probably damaging Het
Lrp1b T A 2: 40,677,494 T305S unknown Het
Map3k2 A G 18: 32,217,158 T354A probably benign Het
Mmp16 T C 4: 17,987,726 probably null Het
Mphosph10 T C 7: 64,388,859 probably benign Het
Olfr1263 T A 2: 90,015,254 I108N possibly damaging Het
Olfr1297 T C 2: 111,621,741 E111G probably damaging Het
Olfr1328 A T 4: 118,934,417 C144S probably damaging Het
Olfr472 G A 7: 107,902,923 V69I possibly damaging Het
Olfr514 A G 7: 108,825,178 S274P probably damaging Het
Slc43a3 C A 2: 84,937,796 F37L probably benign Het
Slf2 G T 19: 44,931,416 A36S probably damaging Het
Sorcs1 T C 19: 50,144,160 probably benign Het
Thsd7b A C 1: 130,189,935 probably null Het
Tnfrsf18 A C 4: 156,028,282 I142L probably benign Het
Ttn A G 2: 76,802,511 probably benign Het
Tufm T A 7: 126,489,442 probably null Het
Vmn2r69 A T 7: 85,409,850 probably benign Het
Zfp385c T C 11: 100,629,883 probably benign Het
Zfp964 T A 8: 69,663,853 C368S unknown Het
Zswim8 G A 14: 20,721,668 probably benign Het
Other mutations in Casq2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00910:Casq2 APN 3 102110231 splice site probably benign
IGL02597:Casq2 APN 3 102126637 missense probably damaging 1.00
IGL02863:Casq2 APN 3 102144175 missense possibly damaging 0.84
IGL02902:Casq2 APN 3 102086797 nonsense probably null
IGL03176:Casq2 APN 3 102126654 missense possibly damaging 0.50
R0126:Casq2 UTSW 3 102133399 missense probably damaging 1.00
R0653:Casq2 UTSW 3 102113166 critical splice donor site probably null
R1036:Casq2 UTSW 3 102142215 missense probably damaging 1.00
R1052:Casq2 UTSW 3 102144234 splice site probably null
R2886:Casq2 UTSW 3 102144218 missense probably damaging 1.00
R3001:Casq2 UTSW 3 102145201 missense probably damaging 0.99
R3002:Casq2 UTSW 3 102145201 missense probably damaging 0.99
R4155:Casq2 UTSW 3 102133102 splice site probably null
R4715:Casq2 UTSW 3 102110244 missense probably benign 0.00
R6013:Casq2 UTSW 3 102145629 unclassified probably null
R6778:Casq2 UTSW 3 102127931 splice site probably null
R6836:Casq2 UTSW 3 102086760 missense probably damaging 1.00
R6844:Casq2 UTSW 3 102110262 missense possibly damaging 0.70
R7055:Casq2 UTSW 3 102142245 missense probably damaging 1.00
R7638:Casq2 UTSW 3 102086700 missense possibly damaging 0.73
R7761:Casq2 UTSW 3 102145264 missense probably damaging 1.00
R7997:Casq2 UTSW 3 102086842 missense probably damaging 0.98
R8169:Casq2 UTSW 3 102110312 missense possibly damaging 0.69
Predicted Primers
Posted On2014-01-15