Adcy6 - SNV Details



 Gene Information 
Gene Name Adcy6
Gene Description adenylate cyclase 6 [Source:MGI Symbol;Acc:MGI:87917]
MGI phenotype Mice homozygous for disruption of this gene show a reduction in calcium uptake and transport in cardiomyocytes as well as mild functional abnormalities in the left ventricle.
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; cellular response to catecholamine stimulus; integral to membrane; cellular response to prostaglandin E stimulus; sarcolemma; microvillus membrane; membrane raft; activation of adenylate cyclase activity; dopamine receptor signaling pathway; calcium- and calmodulin-responsive adenylate cyclase activity; protein binding; endosome; cyclic nucleotide biosynthetic process; nucleotide binding; adenylate cyclase activity; cAMP biosynthetic process; plasma membrane; receptor binding; phosphorus-oxygen lyase activity
Homolog in other species ADCY6
Omim http://omim.org/entry/600294
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
MEDIAN(HIGH IN KIDNEY, LIVER, IMM GROUP, OSTEO GROUP, PROSTATE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022994
Chromosome 15
Coordinate 98,596,938     (Assembly: GRCm38)    
Ref Base T
Codon Change Atc/Gtc
Var Base C
Zygosity Heterozygous
Read Depth 18
Allele Frequency
T:R0.56
C:V0.44
Amino Acid Position 747
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL02404
Median Base Quality 37.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Sift Score 1
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved