|Institutional Source||Beutler Lab|
|Gene Name||transient receptor potential cation channel, subfamily M, member 6|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R3779 (G1)|
|Chromosomal Location||18749983-18892510 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 18876039 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Leucine at position 1808 (I1808L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037443 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040489]|
AA Change: I1808L
PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: I1808L
|Meta Mutation Damage Score||0.2731|
|Coding Region Coverage||
|Validation Efficiency||98% (47/48)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic and postnatal lethality with exencephaly, spina bifida occulta, and abnormal brain and facial development. Mice heterozygous for a knock-out allele exhibit some premature death and decreased serummagnesium. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trpm6||
(F):5'- AAGTTCTCCTCTGACCCTGG -3'
(R):5'- AGGTTTCTAGACTGCCCAAC -3'
(F):5'- TCTGACCCTGGATAAGAGCATGTC -3'
(R):5'- GACTCTTTTTCAGTTGAGGAAAATCC -3'