|Institutional Source||Beutler Lab|
|Gene Name||transient receptor potential cation channel, subfamily C, member 3|
|Synonyms||Trp3, Trrp3, Trcp3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5891 (G1)|
|Chromosomal Location||36620482-36690167 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 36671022 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 268 (D268E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029271 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029271]|
|Predicted Effect||probably damaging
AA Change: D268E
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D268E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.236|
|Coding Region Coverage||
|Validation Efficiency||96% (85/89)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous knockout mice or mice heterozygoous for a point mutation in exon 7 display an abnormal gait. Abnormal nervous system electrophysiology is also described. An A1903G point mutation in exon 7 results in homozygous lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trpc3||
(F):5'- GAAGACACGGACTTCCACAG -3'
(R):5'- CAATGAGCATCTGGAGGTGACC -3'
(F):5'- GGCCTACCTTGAACTCCTTCTCTATG -3'
(R):5'- ACTTCTATGCTTACGACGAGG -3'