Itpr3 - SNV Details



 Gene Information 
Gene Name Itpr3
Old Gene Names for Itpr3 Ip3r3 , Itpr-3
Gene Description inositol 1,4,5-triphosphate receptor 3 [Source:MGI Symbol;Acc:MGI:96624]
MGI phenotype Mice homozygous for a knock-out allele are viable and fertile and exhibit no apparent abnormalities in pancreatic and salivary secretion.
Uniprot Name
CCDS Name
Gene GO
nucleoplasm; sensory perception of bitter taste; membrane; sensory perception of umami taste; inositol phosphate-mediated signaling; calcium ion transport into cytosol; cytoplasm; endoplasmic reticulum membrane; calcium ion transport; intracellular ligand-gated calcium channel activity; inositol 1
4
5-trisphosphate-sensitive calcium-release channel activity; protein binding; binding; sensory perception of sweet taste; nucleus; ion channel activity; long-term synaptic potentiation; phosphatidylinositol binding; ion transport; transmembrane transport; integral component of plasma membrane; plasma membrane; response to calcium ion; receptor complex; calcium channel activity; memory; calcium ion transmembrane transport; nucleolus; inositol 1
4
5 trisphosphate binding
Homolog in other species ITPR3
Omim http://omim.org/entry/147267
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
Gnf Expression
MEDIAN/HIGH(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, IMM.G1, IMM.G3, OSTEO GROUP, C2C12, UMBLICALCORD, NIH.3T3, EPITH GROUP, TRACHEA, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000042644
Chromosome 17
Coordinate 27,097,978     (Assembly: GRCm38)    
Ref Base T
Var Base G
Zygosity Heterozygous
Read Depth 14
Allele Frequency
T:R0.43
G:V0.57
Amino Acid Change F->V (Phenylalanine -> Valine)
Sample ID IGL03004
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability