Adcy10 - SNV Details



 Human Rare Diseases 
Idiopathic hypercalciuria

 Gene Information 
Gene Name Adcy10
Old Gene Names for Adcy10 4930431d04rik , Sacy
Gene Description adenylate cyclase 10 [Source:MGI Symbol;Acc:MGI:2660854]
MGI phenotype Homozygous null male mutants are infertile with a severe sperm motility defect, female null mutants are fertile. Females exhibit increased cholesterol and triglyceride levels while both sexes have a slight increase in heart rate.
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; perinuclear region of cytoplasm; membrane; spermatogenesis; cytoplasm; positive regulation of apoptotic process; ATPase binding; manganese ion binding; neuronal cell body; axon; cytosol; cytoskeleton; apical part of cell; magnesium ion binding; basal part of cell; cyclic nucleotide biosynthetic process; growth cone; ATP binding; adenylate cyclase activity; plasma membrane; cAMP biosynthetic process; dendrite; phosphorus-oxygen lyase activity
Homolog in other species ADCY10
Immgen Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026567
Chromosome 1
Coordinate 165,567,726     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 53
Allele Frequency
A:R0.47
G:V0.53
Amino Acid Change Y->C (Tyrosine -> Cysteine)
Sample ID IGL02470
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

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

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved