|Institutional Source||Beutler Lab|
|Gene Name||transient receptor potential cation channel, subfamily V, member 5|
|Is this an essential gene?||Probably non essential (E-score: 0.139)|
|Stock #||R6270 (G1)|
|Chromosomal Location||41652173-41680769 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 41674359 bp|
|Amino Acid Change||Histidine to Leucine at position 251 (H251L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031901 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031901] [ENSMUST00000193503]|
|Predicted Effect||possibly damaging
AA Change: H251L
PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: H251L
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (51/52)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit increased calcium excretion and reduced bone thickenss. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trpv5||
(F):5'- AAGTGTCTCAGTAGATGGAAAAGCC -3'
(R):5'- AGCTTGTGCCCAACAACCAG -3'
(F):5'- ATCTCAACACATCTTCCTTCACATG -3'
(R):5'- GGACTCACCCCCTTCAAGTTGG -3'