Incidental Mutation 'R6013:Casq2'
ID 501970
Institutional Source Beutler Lab
Gene Symbol Casq2
Ensembl Gene ENSMUSG00000027861
Gene Name calsequestrin 2
Synonyms cCSQ, Csq2, ESTM52, cardiac calsequestrin
MMRRC Submission 044189-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6013 (G1)
Quality Score 71.0074
Status Validated
Chromosome 3
Chromosomal Location 101993731-102053830 bp(+) (GRCm39)
Type of Mutation splice site (298 bp from exon)
DNA Base Change (assembly) G to T at 102052945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029454] [ENSMUST00000164123] [ENSMUST00000165540]
AlphaFold O09161
Predicted Effect probably benign
Transcript: ENSMUST00000029454
SMART Domains Protein: ENSMUSP00000029454
Gene: ENSMUSG00000027861

DomainStartEndE-ValueType
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

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 benign
Transcript: ENSMUST00000165540
SMART Domains Protein: ENSMUSP00000130482
Gene: ENSMUSG00000027861

DomainStartEndE-ValueType
Pfam:Calsequestrin 1 386 7.4e-224 PFAM
Pfam:Thioredoxin_6 171 367 9.1e-20 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 98% (54/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008P02Rik C T 3: 6,682,310 (GRCm39) probably null Het
Aanat A T 11: 116,486,950 (GRCm39) probably null Het
Abca17 A T 17: 24,506,820 (GRCm39) V1178E possibly damaging Het
Abcf3 T A 16: 20,369,311 (GRCm39) probably null Het
Alk A G 17: 72,207,732 (GRCm39) M1001T probably benign Het
Arhgap23 C A 11: 97,391,818 (GRCm39) S1445Y probably damaging Het
Atp10a T C 7: 58,447,538 (GRCm39) I760T probably benign Het
Cadm1 C T 9: 47,768,572 (GRCm39) probably benign Het
Car10 A T 11: 93,076,105 (GRCm39) probably benign Het
Cemip2 G A 19: 21,809,403 (GRCm39) V928I possibly damaging Het
Clec4f T C 6: 83,632,070 (GRCm39) I55V probably benign Het
Cngb1 T C 8: 96,010,949 (GRCm39) probably benign Het
Csn1s2b A G 5: 87,972,098 (GRCm39) probably null Het
Cyp2c39 A C 19: 39,501,969 (GRCm39) R119S probably benign Het
Cyp4f16 C T 17: 32,765,652 (GRCm39) A345V probably null Het
Ddx43 T C 9: 78,321,567 (GRCm39) L412S probably damaging Het
Dnajb12 G A 10: 59,730,163 (GRCm39) probably null Het
Ephx2 A G 14: 66,347,691 (GRCm39) S56P probably benign Het
Fam83h A G 15: 75,875,849 (GRCm39) F496S probably damaging Het
Gcnt4 T C 13: 97,083,786 (GRCm39) S361P possibly damaging Het
H2-T23 G T 17: 36,341,474 (GRCm39) H332Q probably benign Het
Hrob T C 11: 102,145,859 (GRCm39) V45A probably benign Het
Ift57 G T 16: 49,519,667 (GRCm39) probably null Het
Il1rl2 A G 1: 40,391,017 (GRCm39) H320R possibly damaging Het
Kansl1 A G 11: 104,241,465 (GRCm39) V618A probably benign Het
Kctd3 T C 1: 188,728,665 (GRCm39) E157G probably benign Het
Magohb T A 6: 131,270,037 (GRCm39) D31V possibly damaging Het
Mdn1 C A 4: 32,715,713 (GRCm39) F1993L probably damaging Het
Med29 C A 7: 28,086,418 (GRCm39) C130F probably benign Het
Mtmr7 G A 8: 41,034,570 (GRCm39) R251C probably damaging Het
Ncor1 T C 11: 62,211,903 (GRCm39) I49V probably benign Het
Nfkb1 G T 3: 135,332,445 (GRCm39) T109K possibly damaging Het
Pkd1l1 A G 11: 8,819,452 (GRCm39) probably null Het
Pkp1 T A 1: 135,811,648 (GRCm39) T408S probably damaging Het
Plec A T 15: 76,073,510 (GRCm39) D501E possibly damaging Het
Prcp A C 7: 92,576,976 (GRCm39) Y335S possibly damaging Het
Reg2 T A 6: 78,384,952 (GRCm39) Y165N possibly damaging Het
Rnf7 T C 9: 96,353,787 (GRCm39) *114W probably null Het
Scg3 T C 9: 75,584,090 (GRCm39) D137G probably damaging Het
Serpinb7 T C 1: 107,377,919 (GRCm39) V204A probably benign Het
Sez6 C T 11: 77,864,623 (GRCm39) H528Y probably damaging Het
Sf3b1 A T 1: 55,039,457 (GRCm39) S723T probably damaging Het
Shtn1 T C 19: 58,963,533 (GRCm39) D594G probably damaging Het
Sptbn4 A G 7: 27,063,904 (GRCm39) L2174P probably damaging Het
Stk25 A G 1: 93,553,181 (GRCm39) probably null Het
Tep1 A T 14: 51,098,505 (GRCm39) F429I probably damaging Het
Thada T A 17: 84,580,228 (GRCm39) I1409F probably benign Het
Usp25 G A 16: 76,873,909 (GRCm39) G495E probably benign Het
Washc2 A G 6: 116,231,114 (GRCm39) S844G probably damaging Het
Xirp2 A T 2: 67,341,287 (GRCm39) H1176L possibly damaging Het
Ypel1 T C 16: 16,918,129 (GRCm39) N96D probably damaging Het
Zfand6 C A 7: 84,281,900 (GRCm39) V110L probably benign Het
Zfp30 A G 7: 29,488,846 (GRCm39) R8G possibly damaging 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
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
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'- ATGAGTGACATTACAACCACCATG -3'
(R):5'- GACTCTGATTAGAAGGCCACTCC -3'

Sequencing Primer
(F):5'- TGTACCATACAGACAGCCCAAGG -3'
(R):5'- CTCCCTGCTTGTGAACTAATAGCAAG -3'
Posted On 2018-01-31