Ryr2 - SNV Details

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

 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; canonical Wnt signaling pathway; enzyme binding; embryonic heart tube morphogenesis; response to redox state; protein kinase A catalytic subunit binding; membrane; positive regulation of calcium-transporting ATPase activity; type B pancreatic cell apoptotic process; regulation of transcription
DNA-templated; sarcoplasmic reticulum; calcium ion transport into cytosol; cytosolic calcium ion transport; Purkinje myocyte to ventricular cardiac muscle cell signaling; BMP signaling pathway; suramin binding; calcium-mediated signaling using intracellular calcium source; response to caffeine; calcium-mediated signaling; positive regulation of sequestering of calcium ion; regulation of cardiac muscle contraction; 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; sarcomere; response to hypoxia; protein complex; cellular response to caffeine; protein binding; integral component of membrane; protein kinase A regulatory subunit binding; binding; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; sarcoplasmic reticulum membrane; calcium-induced calcium release activity; positive regulation of heart rate; ion channel activity; ventricular cardiac muscle cell action potential; protein self-association; extracellular vesicular exosome; detection of calcium ion; Z disc; calmodulin binding; ion transport; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; establishment of protein localization to endoplasmic reticulum; regulation of heart rate; transmembrane transport; identical protein binding; calcium channel activity; calcium ion transmembrane transport; calcium ion binding; cellular calcium ion homeostasis; protein kinase binding; cardiac muscle contraction; calcium channel complex; smooth endoplasmic reticulum; 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 11,655,677     (Assembly: GRCm38)    
Ref Base T
Var Base G
Zygosity Heterozygous
Read Depth 13
Allele Frequency
Amino Acid Change N->H (Asparagine -> Histidine)
Sample ID IGL02747
Median Base Quality 39
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 29 Other Mutations

Polyphen Score 1
Polyphen Prediction Probably damaging
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved