Ryr3 - SNV Details



 Gene Information 
Gene Name Ryr3
Old Gene Names for Ryr3 Ai851294
Gene Description ryanodine receptor 3 [Source:MGI Symbol;Acc:MGI:99684]
MGI phenotype Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task.
Uniprot Name
CCDS Name
Gene GO
calcium-release channel activity; cellular response to ATP; membrane; striated muscle contraction; integral to membrane; calcium ion transport; cellular response to caffeine; protein binding; sarcoplasmic reticulum membrane; ion channel activity; protein homotetramerization; cellular response to magnesium ion; calmodulin binding; ion transport; cellular response to calcium ion; transmembrane transport; calcium channel activity; junctional membrane complex; calcium ion transmembrane transport; calcium ion binding; cellular calcium ion homeostasis; ryanodine-sensitive calcium-release channel activity
Homolog in other species RYR3
Omim http://omim.org/entry/180903
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000057378
Chromosome 2
Coordinate 112,967,203     (Assembly: GRCm38)    
Ref Base T
Codon Change Acc/Tcc
Var Base A
Zygosity Heterozygous
Read Depth 19
Allele Frequency
T:R0.32
A:V0.68
Amino Acid Position 122
Amino Acid Change T->S (Threonine -> Serine)
Sample ID IGL02185
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

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

 Availability Details 
Availability Cryopreserved