Incidental Mutation 'R9600:Casq2'
ID 723656
Institutional Source Beutler Lab
Gene Symbol Casq2
Ensembl Gene ENSMUSG00000027861
Gene Name calsequestrin 2
Synonyms cCSQ, Csq2, ESTM52, cardiac calsequestrin
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9600 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 101993731-102053830 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102052622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 378 (D378V)
Ref Sequence ENSEMBL: ENSMUSP00000130482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029454] [ENSMUST00000164123] [ENSMUST00000165540]
AlphaFold O09161
Predicted Effect unknown
Transcript: ENSMUST00000029454
AA Change: D375V
SMART Domains Protein: ENSMUSP00000029454
Gene: ENSMUSG00000027861
AA Change: D375V

DomainStartEndE-ValueType
Pfam:Calsequestrin 1 382 1.4e-226 PFAM
Pfam:Thioredoxin_6 171 364 7e-22 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000164123
AA Change: D304V
SMART Domains Protein: ENSMUSP00000131232
Gene: ENSMUSG00000027861
AA Change: D304V

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 unknown
Transcript: ENSMUST00000165540
AA Change: D378V
SMART Domains Protein: ENSMUSP00000130482
Gene: ENSMUSG00000027861
AA Change: D378V

DomainStartEndE-ValueType
Pfam:Calsequestrin 1 386 7.4e-224 PFAM
Pfam:Thioredoxin_6 171 367 9.1e-20 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A G 11: 80,261,197 (GRCm39) V210A probably damaging Het
Abcc9 G A 6: 142,536,102 (GRCm39) A1544V possibly damaging Het
Akap6 A G 12: 52,933,341 (GRCm39) T278A probably benign Het
Arfgef1 T A 1: 10,233,977 (GRCm39) I1106F probably benign Het
Armc7 T C 11: 115,367,038 (GRCm39) L61S probably damaging Het
Atp1a3 G A 7: 24,700,027 (GRCm39) T111M probably benign Het
Bltp1 A T 3: 37,095,565 (GRCm39) K1103* probably null Het
Cacna2d4 T A 6: 119,322,023 (GRCm39) S962R probably benign Het
Camsap2 T C 1: 136,204,936 (GRCm39) T526A Het
Chst8 C T 7: 34,374,646 (GRCm39) D398N possibly damaging Het
Cmya5 C T 13: 93,226,604 (GRCm39) G2828D probably damaging Het
Cntnap2 T A 6: 45,969,009 (GRCm39) N250K probably damaging Het
Cpne5 T C 17: 29,380,520 (GRCm39) N401D probably damaging Het
Cse1l A G 2: 166,757,119 (GRCm39) N7S probably damaging Het
Cyp4f39 G A 17: 32,705,920 (GRCm39) G337D probably damaging Het
Dera C T 6: 137,814,135 (GRCm39) R308C probably benign Het
Drd5 T A 5: 38,478,174 (GRCm39) I389N possibly damaging Het
F830016B08Rik A G 18: 60,433,237 (GRCm39) T107A probably damaging Het
Fbxw22 C A 9: 109,212,986 (GRCm39) L320F probably damaging Het
Fndc3b G T 3: 27,552,941 (GRCm39) T352K probably damaging Het
Gm36864 T A 7: 43,886,275 (GRCm39) I169K unknown Het
Hdac4 A T 1: 91,889,277 (GRCm39) D749E probably damaging Het
Herc1 C T 9: 66,304,594 (GRCm39) A805V possibly damaging Het
Hrh1 A G 6: 114,457,453 (GRCm39) K245E probably benign Het
Khdc1a A G 1: 21,421,204 (GRCm39) T130A probably benign Het
Lrp5 C G 19: 3,641,712 (GRCm39) A1417P probably benign Het
Macf1 T C 4: 123,365,002 (GRCm39) Q3253R possibly damaging Het
Mdn1 T A 4: 32,684,723 (GRCm39) L811* probably null Het
Mettl8 T C 2: 70,812,383 (GRCm39) D84G possibly damaging Het
Miga1 T G 3: 151,993,186 (GRCm39) T412P probably benign Het
Mtor G T 4: 148,632,092 (GRCm39) R2322L possibly damaging Het
Muc16 T C 9: 18,567,147 (GRCm39) N1791D unknown Het
Myo9b C G 8: 71,743,075 (GRCm39) S45R possibly damaging Het
Nup50l A T 6: 96,142,156 (GRCm39) L296Q possibly damaging Het
Olfm4 T C 14: 80,243,747 (GRCm39) F105S probably damaging Het
Or5af2 A T 11: 58,708,370 (GRCm39) I179F possibly damaging Het
Osbpl1a T C 18: 13,015,277 (GRCm39) I384V probably benign Het
Pcnx1 T C 12: 82,030,435 (GRCm39) L1131P Het
Pex6 T A 17: 47,035,322 (GRCm39) V827E probably damaging Het
Plek A C 11: 16,940,119 (GRCm39) S197A probably benign Het
Pmpca T C 2: 26,282,598 (GRCm39) Y269H probably benign Het
Pop1 T C 15: 34,512,881 (GRCm39) I493T probably benign Het
Rap1gap2 T C 11: 74,283,954 (GRCm39) N615D probably benign Het
Rtp3 T C 9: 110,815,198 (GRCm39) Y389C unknown Het
Rusf1 T A 7: 127,875,676 (GRCm39) D253V possibly damaging Het
Sardh T C 2: 27,120,513 (GRCm39) Q423R probably benign Het
Slc11a1 T C 1: 74,422,688 (GRCm39) probably null Het
Slc5a4b T C 10: 75,896,239 (GRCm39) D572G probably damaging Het
Slco1a8 T G 6: 141,949,234 (GRCm39) probably null Het
Slfn14 A G 11: 83,170,048 (GRCm39) V532A probably benign Het
Spmip10 T C 18: 56,725,450 (GRCm39) W37R probably benign Het
Stxbp1 T C 2: 32,701,120 (GRCm39) Y264C possibly damaging Het
Syce1l T C 8: 114,381,750 (GRCm39) I230T unknown Het
Taf5l T C 8: 124,730,173 (GRCm39) Y172C Het
Trpc4 A T 3: 54,102,248 (GRCm39) K49* probably null Het
Ttc13 A G 8: 125,415,284 (GRCm39) V285A probably benign Het
Ttc17 A T 2: 94,204,890 (GRCm39) L344Q probably damaging Het
Unc79 A G 12: 103,135,972 (GRCm39) H2469R probably benign Het
Xkr7 A G 2: 152,896,393 (GRCm39) I416V probably benign Het
Zeb2 C A 2: 44,987,180 (GRCm39) D35Y unknown Het
Zfp28 A G 7: 6,397,917 (GRCm39) H784R probably benign Het
Zfp644 A C 5: 106,783,909 (GRCm39) S848R probably benign Het
Zfp809 G A 9: 22,150,384 (GRCm39) E294K possibly damaging Het
Zfp820 A G 17: 22,038,861 (GRCm39) Y156H 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
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
Predicted Primers PCR Primer
(F):5'- CTTGGAAAATGCTGCCCTGC -3'
(R):5'- GAAATGTACCACTCCTGCCAAG -3'

Sequencing Primer
(F):5'- AATGCTGCCCTGCCTCGG -3'
(R):5'- AGCTGACTAGGTGTGGGCAC -3'
Posted On 2022-09-12