|Institutional Source||Beutler Lab|
|Gene Name||inositol 1,4,5-triphosphate receptor 3|
|Synonyms||tf, Ip3r3, Itpr-3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5303 (G1)|
|Chromosomal Location||27057304-27122223 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 27116689 bp|
|Amino Acid Change||Tyrosine to Histidine at position 2258 (Y2258H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038150 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049308]|
|Predicted Effect||probably benign
AA Change: Y2258H
PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: Y2258H
|Meta Mutation Damage Score||0.2463|
|Coding Region Coverage||
|Validation Efficiency||98% (63/64)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and exhibit no apparent abnormalities in pancreatic and salivary secretion. However, one mutation in this gene results in alternating abnormal hair loss and normal hair growth throughout the life of the mouse and low sweet preference. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itpr3||
(F):5'- CACTTGAGATGTCTGCAGCAG -3'
(R):5'- TCTGACTACAAGGAGCTGGG -3'
(F):5'- GCAGATGCATCAGATCCCTAAGG -3'
(R):5'- GACAGAGAGTGGGAGGGACC -3'