Ryr2 - SNV Details



 Human Rare Diseases 
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Catecholaminergic polymorphic ventricular tachycardia
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form

 Gene Information 
Gene Name Ryr2
Old Gene Names for Ryr2 9330127i20rik
Gene Description ryanodine receptor 2, cardiac [Source:MGI Symbol;Acc:MGI:99685]
MGI phenotype Mice homozygous for a null mutation display embryonic lethality during organogenesis and abnormal cardiomyocyte morphology. Mice homozygous for a phosphorylation defective allele display decreased susceptibility to myocardial infarction-induced heart failure.
Uniprot Name
CCDS Name
Gene GO
DNA-dependent
DNA binding
Z disc
calcium channel activity
calcium ion binding
calcium ion transmembrane transport
calcium ion transport
cellular calcium ion homeostasis
integral to membrane
intracellular
ion channel activity
Homolog in other species RYR2
Omim http://omim.org/entry/180902
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021313
Chromosome 13
Coordinate 11,585,478     (Assembly: GRCm38)    
Ref Base G
Codon Change Ctt/Att
Var Base T
Zygosity Heterozygous
Read Depth 34
Allele Frequency
G:0.47
T:0.53
Amino Acid Position 4614
Amino Acid Change L->I (Leucine -> Isoleucine)
Sample ID IGL00849
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 21 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved