Itpr1 - SNV Details



 Human Rare Diseases 
Spinocerebellar ataxia type 15/16
Spinocerebellar ataxia type 29

 Gene Information 
Gene Name Itpr1
Old Gene Names for Itpr1 Ip3r , Itpr-1 , D6pas2 , Pcp1 , Pcp-1
Gene Description inositol 1,4,5-trisphosphate receptor 1 [Source:MGI Symbol;Acc:MGI:96623]
MGI phenotype Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants.
Uniprot Name
CCDS Name
Gene GO
endoplasmic reticulum calcium ion homeostasis; membrane; sarcoplasmic reticulum; integral to membrane; inositol phosphate-mediated signaling; cytoplasm; endoplasmic reticulum membrane; endoplasmic reticulum; nuclear inner membrane; membrane raft; calcium ion transport; intracellular ligand-gated calcium channel activity; inositol 1
4
5-trisphosphate-sensitive calcium-release channel activity; response to hypoxia; protein complex; protein binding; ion channel activity; post-embryonic development; nuclear envelope; phosphatidylinositol binding; ion transport; transmembrane transport; plasma membrane; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; calcium channel activity; calcium ion transmembrane transport; nucleolus; release of sequestered calcium ion into cytosol; voluntary musculoskeletal movement; postsynaptic density; calcineurin complex; secretory granule membrane
Homolog in other species ITPR1
Omim http://omim.org/entry/147265
Immgen Expression
MEDIAN(HIGH IN BCELL GROUP, DC.PDC.8-.SP, DC.PDC.8+.SP)
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
MEDIAN
MEDIAN
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, DORSALROOTGANGLION, HIPPOCAMPUS, AMYGDALA, FRONTALCORTEX, CEREBRALCORTEX, CORTEX, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030102
Chromosome 6
Coordinate 108,417,923     (Assembly: GRCm38)    
Ref Base A
Codon Change Aat/Gat
Var Base G
Zygosity Heterozygous
Read Depth 51
Allele Frequency
A:R0.47
G:V0.51
Amino Acid Position 1666
Amino Acid Change N->D (Asparagine -> Aspartic acid)
Sample ID IGL02232
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 71 Other Mutations

 Predictions 
Polyphen Score 0.31
Polyphen Prediction Benign
Sift Score 0.09
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved