|Institutional Source||Beutler Lab|
|Gene Name||ryanodine receptor 2, cardiac|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8509 (G1)|
|Chromosomal Location||11553102-12106945 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to G at 11577778 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000021750 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021750] [ENSMUST00000170156]|
|Predicted Effect||probably null
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (44/44)|
|MGI Phenotype||Strain: 3640298
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show embryonic lethality during organogenesis and altered cardiomyocyte morphology. Homozygotes for a phosphorylation defective allele show decreased susceptibility to myocardial infarction-induced heart failure. Homozygotes for the R420W allele show lymphoid organ hypertrophy. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ryr2||
(F):5'- GGAATATATCCCTCCATTCCAAAGC -3'
(R):5'- GCAAGAAGACTACTCTTGCATAC -3'
(F):5'- ATGCCTCCATAGTATCTGGCTGAAG -3'
(R):5'- GAAGACTACTCTTGCATACTTAACAG -3'