Incidental Mutation 'IGL02863:Casq2'
ID362234
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casq2
Ensembl Gene ENSMUSG00000027861
Gene Namecalsequestrin 2
SynonymsESTM52, cCSQ, cardiac calsequestrin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02863
Quality Score
Status
Chromosome3
Chromosomal Location102086415-102146514 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102144175 bp
ZygosityHeterozygous
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]
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
4932429P05Rik C T X: 89,752,823 P87L possibly damaging Het
9130011E15Rik T A 19: 45,958,411 N256Y probably damaging Het
9330182L06Rik C A 5: 9,461,399 C920* probably null Het
Abcb11 T A 2: 69,284,682 H640L probably damaging Het
Akr1c19 T A 13: 4,237,113 Y110* probably null Het
Alk T A 17: 71,897,835 E1114V probably damaging Het
Anln A T 9: 22,376,365 D213E probably damaging Het
Ano9 T C 7: 141,108,651 N164S probably benign Het
Arhgef9 G A X: 95,077,504 R266C probably damaging Het
Arnt2 C T 7: 84,267,937 R483H probably damaging Het
Asxl3 A T 18: 22,523,484 N1517I probably benign Het
Baiap3 C T 17: 25,244,502 probably benign Het
Capn12 T A 7: 28,883,156 V152E probably damaging Het
Cmtm7 T C 9: 114,763,389 T47A probably benign Het
Csmd2 A G 4: 128,521,884 S2669G probably benign Het
Dnah1 C T 14: 31,295,293 R1520H probably damaging Het
Dnah8 T C 17: 30,769,697 C3214R probably damaging Het
Fbn1 A T 2: 125,303,256 C2688S possibly damaging Het
Fgf13 A G X: 59,063,669 V201A probably damaging Het
Ghr A T 15: 3,328,102 L228* probably null Het
Gpr22 A G 12: 31,710,007 C39R probably benign Het
Hk1 T C 10: 62,295,755 T274A possibly damaging Het
Il18r1 T A 1: 40,487,007 L238M probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Map3k21 A T 8: 125,927,541 E366D probably benign Het
Mgat4e C T 1: 134,541,158 E383K probably benign Het
Mrc2 G A 11: 105,333,620 probably benign Het
Myh13 T A 11: 67,332,541 L229Q probably damaging Het
Myo15 T A 11: 60,478,127 L571Q probably damaging Het
Ncoa1 T A 12: 4,297,513 M354L probably benign Het
Nomo1 T C 7: 46,046,916 F286S probably damaging Het
Ocstamp A G 2: 165,397,508 F253L probably damaging Het
Olfr1062 A G 2: 86,423,113 S188P probably benign Het
Olfr1331 T G 4: 118,868,886 I34S possibly damaging Het
Osbpl8 T C 10: 111,284,425 probably benign Het
Parp4 T C 14: 56,648,786 L1774P unknown Het
Paxip1 T C 5: 27,759,395 S729G probably benign Het
Phlpp1 T A 1: 106,376,297 probably null Het
Pkd1 G A 17: 24,569,752 G828D possibly damaging Het
Raver1 A G 9: 21,075,971 L670P probably damaging Het
Rhd A G 4: 134,885,310 I291V probably damaging Het
Rorb C T 19: 18,952,253 E377K probably benign Het
Slc1a5 T C 7: 16,793,721 I314T probably benign Het
Synj1 T C 16: 90,961,434 T841A possibly damaging Het
Tenm4 T A 7: 96,873,706 L1448H probably damaging Het
Tmc3 A T 7: 83,622,285 S882C possibly damaging Het
Tmc3 G T 7: 83,622,286 S882I probably benign Het
Tmem168 T C 6: 13,582,918 N271D probably damaging Het
Uck1 G A 2: 32,258,322 R161C probably benign Het
Usp13 A G 3: 32,918,947 I759V possibly damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vmn2r115 G T 17: 23,359,283 V577F probably damaging 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
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
R1158:Casq2 UTSW 3 102116883 missense probably damaging 1.00
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
Posted On2015-12-18