Trpm6 - SNV Details



 Human Rare Diseases 
Autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia

 Gene Information 
Gene Name Trpm6
Gene Description transient receptor potential cation channel, subfamily M, member 6 [Source:MGI Symbol;Acc:MGI:2675603]
Uniprot Name
CCDS Name
Gene GO
response to toxin; membrane; cation channel activity; integral to membrane; apical plasma membrane; metal ion binding; metal ion transport; transferase activity
transferring phosphorus-containing groups; protein binding; ion channel activity; brush border membrane; ion transport; protein phosphorylation; transmembrane transport; ATP binding; calcium channel activity; protein serine/threonine kinase activity
Homolog in other species TRPM6
Omim http://omim.org/entry/607009
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024727
Chromosome 19
Coordinate 18,877,651     (Assembly: GRCm38)    
Ref Base A
Codon Change aaA/aaT
Var Base T
Zygosity Heterozygous
Read Depth 47
Allele Frequency
A:R0.40
T:V0.60
Amino Acid Position 1891
Amino Acid Change K->N (Lysine -> Asparagine)
Sample ID IGL01348
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 65 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved , Line Propagating