Ryr2 - SNV Details

 Human Rare Diseases 
Catecholaminergic polymorphic ventricular tachycardia
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated arrhythmogenic ventricular dysplasia, biventricular 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
Gene GO
calcium-release channel activity; left ventricular cardiac muscle tissue morphogenesis; embryonic heart tube morphogenesis; canonical Wnt receptor signaling pathway; response to redox state; protein kinase A catalytic subunit binding; membrane; sarcoplasmic reticulum; integral to membrane; cytosolic calcium ion transport; Purkinje myocyte to ventricular cardiac muscle cell signaling; BMP signaling pathway; suramin binding; response to caffeine; two-component signal transduction system (phosphorelay); calcium-mediated signaling; intracellular; positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction; calcium ion transport; intracellular ligand-gated calcium channel activity; DNA binding; response to hypoxia; protein complex; regulation of ventricular cardiac muscle cell action potential; cellular response to caffeine; protein binding; protein kinase A regulatory subunit binding; binding; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; sarcoplasmic reticulum membrane; positive regulation of heart rate; ion channel activity; protein self-association; detection of calcium ion; intrinsic apoptotic signaling pathway in response to osmotic stress; Z disc; calmodulin binding; ion transport; regulation of transcription
DNA-dependent; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; regulation of heart rate; transmembrane transport; identical protein binding; calcium channel activity; calcium ion transmembrane transport; two-component response regulator activity; calcium ion binding; cellular calcium ion homeostasis; cardiac muscle contraction; calcium channel complex; ryanodine-sensitive calcium-release channel activity; cardiac muscle hypertrophy
Homolog in other species RYR2
Omim http://omim.org/entry/180902
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021313
Chromosome 13
Coordinate 11,721,790     (Assembly: GRCm38)    
Ref Base A
Codon Change aaT/aaA
Var Base T
Zygosity Heterozygous
Read Depth 79
Allele Frequency
Amino Acid Position 2250
Amino Acid Change N->K (Asparagine -> Lysine)
Sample ID IGL01533
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

Polyphen Score 0.86
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved