|Institutional Source||Beutler Lab|
|Gene Name||transient receptor potential cation channel, subfamily C, member 4|
|Synonyms||Trrp4, STRPC4, Trp4, CCE1|
|Essential gene?||Probably non essential (E-score: 0.171)|
|Stock #||R7299 (G1)|
|Chromosomal Location||54156035-54318471 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 54317627 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Threonine at position 799 (I799T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029311 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029311] [ENSMUST00000200048] [ENSMUST00000200341]|
AA Change: I799T
PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: I799T
|Coding Region Coverage||
|Validation Efficiency||99% (71/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice exhibit a significant reduction in agonist-induced Ca2+ entry and vasorelaxation of aortic rings. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trpc4||
(F):5'- TTTCCGTAAGTCAGCACCTAACG -3'
(R):5'- TTGCGTTTTGCTCAGCAGC -3'
(F):5'- AGCACCTAACGTGTCATTTGG -3'
(R):5'- CAGCAGCATTTTGTTTTGACCG -3'