Incidental Mutation 'IGL02863:Casq2'
ID 362234
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casq2
Ensembl Gene ENSMUSG00000027861
Gene Name calsequestrin 2
Synonyms cCSQ, Csq2, ESTM52, cardiac calsequestrin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02863
Quality Score
Status
Chromosome 3
Chromosomal Location 101993731-102053830 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102051491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 324 (T324A)
Ref Sequence ENSEMBL: ENSMUSP00000130482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029454] [ENSMUST00000164123] [ENSMUST00000165540]
AlphaFold O09161
Predicted Effect possibly damaging
Transcript: ENSMUST00000029454
AA Change: T321A

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029454
Gene: ENSMUSG00000027861
AA Change: T321A

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 possibly damaging
Transcript: ENSMUST00000164123
AA Change: T250A

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131232
Gene: ENSMUSG00000027861
AA Change: T250A

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 possibly damaging
Transcript: ENSMUST00000165540
AA Change: T324A

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130482
Gene: ENSMUSG00000027861
AA Change: T324A

DomainStartEndE-ValueType
Pfam:Calsequestrin 1 386 7.4e-224 PFAM
Pfam:Thioredoxin_6 171 367 9.1e-20 PFAM
Coding Region Coverage
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,115,026 (GRCm39) H640L probably damaging Het
Akr1c19 T A 13: 4,287,112 (GRCm39) Y110* probably null Het
Alk T A 17: 72,204,830 (GRCm39) E1114V probably damaging Het
Anln A T 9: 22,287,661 (GRCm39) D213E probably damaging Het
Ano9 T C 7: 140,688,564 (GRCm39) N164S probably benign Het
Arhgef9 G A X: 94,121,110 (GRCm39) R266C probably damaging Het
Armh3 T A 19: 45,946,850 (GRCm39) N256Y probably damaging Het
Arnt2 C T 7: 83,917,145 (GRCm39) R483H probably damaging Het
Asxl3 A T 18: 22,656,541 (GRCm39) N1517I probably benign Het
Baiap3 C T 17: 25,463,476 (GRCm39) probably benign Het
Capn12 T A 7: 28,582,581 (GRCm39) V152E probably damaging Het
Cmtm7 T C 9: 114,592,457 (GRCm39) T47A probably benign Het
Csmd2 A G 4: 128,415,677 (GRCm39) S2669G probably benign Het
Dnah1 C T 14: 31,017,250 (GRCm39) R1520H probably damaging Het
Dnah8 T C 17: 30,988,671 (GRCm39) C3214R probably damaging Het
Elapor2 C A 5: 9,511,399 (GRCm39) C920* probably null Het
Fbn1 A T 2: 125,145,176 (GRCm39) C2688S possibly damaging Het
Fgf13 A G X: 58,109,029 (GRCm39) V201A probably damaging Het
Ghr A T 15: 3,357,584 (GRCm39) L228* probably null Het
Gpr22 A G 12: 31,760,006 (GRCm39) C39R probably benign Het
Hk1 T C 10: 62,131,534 (GRCm39) T274A possibly damaging Het
Il18r1 T A 1: 40,526,167 (GRCm39) L238M probably damaging Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Map3k21 A T 8: 126,654,280 (GRCm39) E366D probably benign Het
Mgat4e C T 1: 134,468,896 (GRCm39) E383K probably benign Het
Mrc2 G A 11: 105,224,446 (GRCm39) probably benign Het
Myh13 T A 11: 67,223,367 (GRCm39) L229Q probably damaging Het
Myo15a T A 11: 60,368,953 (GRCm39) L571Q probably damaging Het
Ncoa1 T A 12: 4,347,513 (GRCm39) M354L probably benign Het
Nomo1 T C 7: 45,696,340 (GRCm39) F286S probably damaging Het
Ocstamp A G 2: 165,239,428 (GRCm39) F253L probably damaging Het
Or10ak9 T G 4: 118,726,083 (GRCm39) I34S possibly damaging Het
Or8j3c A G 2: 86,253,457 (GRCm39) S188P probably benign Het
Osbpl8 T C 10: 111,120,286 (GRCm39) probably benign Het
Parp4 T C 14: 56,886,243 (GRCm39) L1774P unknown Het
Paxip1 T C 5: 27,964,393 (GRCm39) S729G probably benign Het
Phlpp1 T A 1: 106,304,027 (GRCm39) probably null Het
Pkd1 G A 17: 24,788,726 (GRCm39) G828D possibly damaging Het
Ppp4r3c2 C T X: 88,796,429 (GRCm39) P87L possibly damaging Het
Raver1 A G 9: 20,987,267 (GRCm39) L670P probably damaging Het
Rhd A G 4: 134,612,621 (GRCm39) I291V probably damaging Het
Rorb C T 19: 18,929,617 (GRCm39) E377K probably benign Het
Slc1a5 T C 7: 16,527,646 (GRCm39) I314T probably benign Het
Synj1 T C 16: 90,758,322 (GRCm39) T841A possibly damaging Het
Tenm4 T A 7: 96,522,913 (GRCm39) L1448H probably damaging Het
Tmc3 G T 7: 83,271,494 (GRCm39) S882I probably benign Het
Tmc3 A T 7: 83,271,493 (GRCm39) S882C possibly damaging Het
Tmem168 T C 6: 13,582,917 (GRCm39) N271D probably damaging Het
Uck1 G A 2: 32,148,334 (GRCm39) R161C probably benign Het
Usp13 A G 3: 32,973,096 (GRCm39) I759V possibly damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vmn2r115 G T 17: 23,578,257 (GRCm39) V577F probably 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
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
R9600:Casq2 UTSW 3 102,052,622 (GRCm39) missense unknown
Posted On 2015-12-18