|Institutional Source||Beutler Lab|
|Gene Name||transient receptor potential cation channel, subfamily M, member 1|
|Synonyms||Mlsn1, 4732499L03Rik, LTRPC1, melastatin|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6088 (G1)|
|Chromosomal Location||64153835-64269775 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 64267976 bp (GRCm38)|
|Amino Acid Change||Methionine to Leucine at position 355 (M355L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000145593 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000085222] [ENSMUST00000206263] [ENSMUST00000206277] [ENSMUST00000206314] [ENSMUST00000206848]|
AA Change: M1239L
PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: M1239L
AA Change: M1123L
PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: M1245L
PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: M355L
PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: M139L
PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|Coding Region Coverage||
|Validation Efficiency||98% (59/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous mutants have defects in rod and cone electrophysiology affecting the photoresponses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trpm1||
(F):5'- TCTGGCATTCCGTAAACACTATATG -3'
(R):5'- ATTCGGAGGATGCTCGAGATC -3'
(F):5'- AAAACCTGGGGGCTCATA -3'
(R):5'- TCGAGCCTGGATCAGATCAGAC -3'