Incidental Mutation 'R1158:Casq2'
ID 101860
Institutional Source Beutler Lab
Gene Symbol Casq2
Ensembl Gene ENSMUSG00000027861
Gene Name calsequestrin 2
Synonyms cCSQ, Csq2, ESTM52, cardiac calsequestrin
MMRRC Submission 039231-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1158 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 101993731-102053830 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102024199 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O09161
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: 59,217,566 (GRCm39) V193A possibly damaging Het
Ahnak A C 19: 8,991,290 (GRCm39) E4191D probably benign Het
BC024139 T A 15: 76,004,542 (GRCm39) probably benign Het
Bpifb9a T G 2: 154,104,184 (GRCm39) I209S probably benign Het
Bst1 T G 5: 43,997,834 (GRCm39) probably null Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Carf A G 1: 60,186,998 (GRCm39) K499E probably benign Het
Cd8a T A 6: 71,350,712 (GRCm39) V59D probably damaging Het
Chrm5 T C 2: 112,310,214 (GRCm39) T301A probably benign Het
Cog5 G A 12: 31,920,056 (GRCm39) probably benign Het
Csmd3 T C 15: 48,156,170 (GRCm39) probably null Het
Dop1a T C 9: 86,367,609 (GRCm39) S31P probably damaging Het
Eif1ad9 A T 12: 88,296,438 (GRCm39) I139F unknown Het
Epb41 T C 4: 131,727,502 (GRCm39) probably benign Het
Fhod3 C T 18: 25,118,293 (GRCm39) A210V probably damaging Het
Gdpgp1 T C 7: 79,888,250 (GRCm39) F94L probably benign Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Htr3b T C 9: 48,847,390 (GRCm39) K375R possibly damaging Het
Inhbe G A 10: 127,187,186 (GRCm39) R77W probably damaging Het
Itgb8 T C 12: 119,166,231 (GRCm39) E100G probably damaging Het
Jakmip1 T C 5: 37,248,472 (GRCm39) V44A possibly damaging Het
Lrp12 A G 15: 39,741,827 (GRCm39) V315A probably damaging Het
Lrp1b T A 2: 40,567,506 (GRCm39) T305S unknown Het
Map3k2 A G 18: 32,350,211 (GRCm39) T354A probably benign Het
Mmp16 T C 4: 17,987,726 (GRCm39) probably null Het
Mphosph10 T C 7: 64,038,607 (GRCm39) probably benign Het
Or10a48 A G 7: 108,424,385 (GRCm39) S274P probably damaging Het
Or10ak7 A T 4: 118,791,614 (GRCm39) C144S probably damaging Het
Or4c52 T A 2: 89,845,598 (GRCm39) I108N possibly damaging Het
Or4k47 T C 2: 111,452,086 (GRCm39) E111G probably damaging Het
Or5p52 G A 7: 107,502,130 (GRCm39) V69I possibly damaging Het
Slc43a3 C A 2: 84,768,140 (GRCm39) F37L probably benign Het
Slf2 G T 19: 44,919,855 (GRCm39) A36S probably damaging Het
Sorcs1 T C 19: 50,132,598 (GRCm39) probably benign Het
Thsd7b A C 1: 130,117,672 (GRCm39) probably null Het
Tnfrsf18 A C 4: 156,112,739 (GRCm39) I142L probably benign Het
Ttn A G 2: 76,632,855 (GRCm39) probably benign Het
Tufm T A 7: 126,088,614 (GRCm39) probably null Het
Vmn2r69 A T 7: 85,059,058 (GRCm39) probably benign Het
Zfp385c T C 11: 100,520,709 (GRCm39) probably benign Het
Zfp964 T A 8: 70,116,503 (GRCm39) C368S unknown Het
Zswim8 G A 14: 20,771,736 (GRCm39) probably benign Het
Other mutations in Casq2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1052:Casq2 UTSW 3 102,051,550 (GRCm39) splice site probably null
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
Posted On 2014-01-15