Itpr1 - SNV Details



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

 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 Splice
Ensembl ID ENSMUSG00000030102
Chromosome 6
Coordinate 108,489,922     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 46
Allele Frequency
A:R0.48
G:V0.52
Amino Acid Change Disrupted splicing
Splice Position 3
Sample ID IGL02434
Median Base Quality 34.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved