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 Non-synonymous
Ensembl ID ENSMUSG00000030102
Chromosome 6
Coordinate 108,488,496     (Assembly: GRCm38)    
Ref Base T
Codon Change aTc/aAc
Var Base A
Zygosity Heterozygous
Read Depth 19
Allele Frequency
T:R0.37
A:V0.58
Amino Acid Position 2124
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL01467
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.85
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved