|Institutional Source||Beutler Lab|
|Gene Name||transient receptor potential cation channel, subfamily C, member 5|
|Synonyms||TRP5, Trrp5, CCE2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0702 (G1)|
|Chromosomal Location||144381671-144688180 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 144411739 bp|
|Amino Acid Change||Valine to Alanine at position 590 (V590A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049063 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040184]|
|Predicted Effect||probably damaging
AA Change: V590A
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: V590A
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the transient receptor family. It encodes one of the seven mammalian TRPC (transient receptor potential channel) proteins. The encoded protein is a multi-pass membrane protein and is thought to form a receptor-activated non-selective calcium permeant cation channel. The protein is active alone or as a heteromultimeric assembly with TRPC1, TRPC3, and TRPC4. It also interacts with multiple proteins including calmodulin, CABP1, enkurin, Na(+)-H+ exchange regulatory factor (NHERF ), interferon-induced GTP-binding protein (MX1), ring finger protein 24 (RNF24), and SEC14 domain and spectrin repeat-containing protein 1 (SESTD1). [provided by RefSeq, May 2010]
PHENOTYPE: Mice with homozygous null alleles of the gene exhibit diminished innate fear response with reduction in synaptic activation and strength in neurons of the amygdala. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trpc5||
(F):5'- GCCCCATTGGAAAGCAGTTACTCAC -3'
(R):5'- AGGAGATACATGAGCAGGCCACTC -3'
(F):5'- TTACTCACGGCAATGAGCTGG -3'
(R):5'- ccccccatacccacccc -3'