Incidental Mutation 'IGL02902:Casq2'
ID363644
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 #IGL02902
Quality Score
Status
Chromosome3
Chromosomal Location102086415-102146514 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 102086797 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 53 (C53*)
Ref Sequence ENSEMBL: ENSMUSP00000130482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029454] [ENSMUST00000164123] [ENSMUST00000165540]
Predicted Effect probably null
Transcript: ENSMUST00000029454
AA Change: C53*
SMART Domains Protein: ENSMUSP00000029454
Gene: ENSMUSG00000027861
AA Change: C53*

DomainStartEndE-ValueType
Pfam:Calsequestrin 1 382 1.4e-226 PFAM
Pfam:Thioredoxin_6 171 364 7e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000164123
AA Change: C53*
SMART Domains Protein: ENSMUSP00000131232
Gene: ENSMUSG00000027861
AA Change: C53*

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 null
Transcript: ENSMUST00000165540
AA Change: C53*
SMART Domains Protein: ENSMUSP00000130482
Gene: ENSMUSG00000027861
AA Change: C53*

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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik G T 1: 86,046,365 V135F possibly damaging Het
Aatk T C 11: 120,011,777 T541A probably benign Het
Abcc1 T C 16: 14,423,127 L516P probably damaging Het
Actl6a T A 3: 32,722,642 V350E possibly damaging Het
Afm A G 5: 90,526,363 K245E possibly damaging Het
Agr3 T C 12: 35,946,916 V63A probably damaging Het
Arhgef28 A T 13: 97,946,875 M1162K probably damaging Het
BC003331 C A 1: 150,384,428 probably null Het
Ccdc181 T C 1: 164,279,901 V51A probably benign Het
Cd101 A G 3: 101,018,994 probably benign Het
Csdc2 T C 15: 81,948,600 V69A probably benign Het
Cyp2c23 A T 19: 44,021,558 probably benign Het
Dnph1 A G 17: 46,498,501 probably benign Het
Egf T C 3: 129,681,147 T1124A probably benign Het
Gm13089 A G 4: 143,698,343 C177R probably damaging Het
Gpr45 A G 1: 43,033,211 E338G possibly damaging Het
Grb14 A C 2: 64,938,418 L98R probably damaging Het
Gucy1a1 T C 3: 82,118,917 S77G possibly damaging Het
Helb A G 10: 120,089,485 S996P probably benign Het
Huwe1 A G X: 151,886,766 E1405G probably damaging Het
Ifi47 T C 11: 49,095,790 I128T probably benign Het
Ift140 T A 17: 25,090,762 Y1089N probably damaging Het
Il1r1 A T 1: 40,302,409 H324L probably benign Het
Irx1 C T 13: 71,959,855 R236H probably benign Het
Itpr3 T C 17: 27,104,556 V1185A probably benign Het
Kif19a T C 11: 114,785,570 V450A possibly damaging Het
Krtap21-1 G T 16: 89,403,558 Y65* probably null Het
Ltn1 A T 16: 87,379,805 N1704K possibly damaging Het
Med1 T C 11: 98,156,509 probably benign Het
Meis2 T A 2: 116,063,323 H36L probably damaging Het
Mier2 T C 10: 79,549,622 N124S probably damaging Het
Mmp20 A G 9: 7,654,170 probably null Het
Muc4 A G 16: 32,750,394 T91A possibly damaging Het
Myo3b T A 2: 70,289,401 V935E probably benign Het
Ndufa7 T C 17: 33,829,658 probably benign Het
Nipal1 A G 5: 72,668,062 E366G possibly damaging Het
Nobox A T 6: 43,305,683 N263K probably benign Het
Notch2 A G 3: 98,111,574 D684G probably damaging Het
Olfr1136 T C 2: 87,693,000 N294S probably damaging Het
Olfr1255 T A 2: 89,817,164 Y273* probably null Het
Olfr303 T C 7: 86,394,535 probably benign Het
Olfr31 A G 14: 14,328,789 H226R probably benign Het
Olfr494 C A 7: 108,368,129 T213K probably damaging Het
Plau A C 14: 20,839,897 D270A possibly damaging Het
Pof1b T C X: 112,649,112 probably null Het
Prtn3 A T 10: 79,881,933 probably null Het
Ptges3 T A 10: 128,068,747 D26E probably benign Het
Pxmp2 T C 5: 110,281,294 E99G probably benign Het
Rasgef1a A G 6: 118,083,107 R106G probably benign Het
Rnf208 T C 2: 25,243,762 V156A probably benign Het
Rps6ka1 A T 4: 133,871,981 I45N possibly damaging Het
Rps6ka4 C T 19: 6,832,255 probably null Het
Rsbn1 G T 3: 103,953,656 C466F possibly damaging Het
Shkbp1 A T 7: 27,342,716 C605S probably damaging Het
Slc2a10 G A 2: 165,518,222 D531N probably benign Het
Sox13 A G 1: 133,389,466 L143P probably damaging Het
Stx2 C T 5: 128,992,221 R142Q probably damaging Het
Tanc1 T A 2: 59,793,087 probably benign Het
Ttc26 A C 6: 38,425,162 S530R probably benign Het
Tubgcp5 C T 7: 55,806,607 Q316* probably null Het
Ubc A G 5: 125,386,229 V678A probably benign Het
Unc5d G A 8: 28,875,606 T117I probably damaging Het
Vmn2r4 T C 3: 64,406,916 I126V probably benign Het
Zfp410 T A 12: 84,331,820 probably null 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
IGL02863:Casq2 APN 3 102144175 missense possibly damaging 0.84
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
Posted On2015-12-18