|Institutional Source||Beutler Lab|
|Gene Name||transient receptor potential cation channel, subfamily M, member 2|
|Synonyms||LTRPC2, 9830168K16Rik, TRPC7, Trrp7|
|Is this an essential gene?||Probably non essential (E-score: 0.156)|
|Stock #||R8158 (G1)|
|Chromosomal Location||77907722-77970563 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 77947897 bp|
|Amino Acid Change||Histidine to Glutamine at position 247 (H247Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000101040 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000105401]|
|Predicted Effect||probably damaging
AA Change: H247Q
PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: H247Q
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a tetrameric cation channel that is permeable to calcium, sodium, and potassium and is regulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. Additional transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired reactive oxygen species (ROS)-induced chemokine production in monocytes, and reduced neutrophil infiltration and ulceration in a dextran sulfate sodium-induced colitis inflammation model. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trpm2||
(F):5'- TTGGGATGTAGTTATAACCAGCAC -3'
(R):5'- CATTGGAACCTGGAAGCATG -3'
(F):5'- ACAGTCAGTCGGTGTTCAC -3'
(R):5'- AAGCATGGCCCGTCTCTC -3'