Pde1a - SNV Details



 Gene Information 
Gene Name Pde1a
Old Gene Names for Pde1a Ai987702 , Aw125737
Gene Description phosphodiesterase 1A, calmodulin-dependent [Source:MGI Symbol;Acc:MGI:1201792]
Uniprot Name
CCDS Name
Gene GO
calmodulin-dependent cyclic-nucleotide phosphodiesterase activity; catalytic activity; signal transduction; metal ion binding; calcium- and calmodulin-regulated 3'
5'-cyclic-GMP phosphodiesterase activity; 3'
5'-cyclic-nucleotide phosphodiesterase activity; calmodulin binding
Homolog in other species PDE1A
Omim http://omim.org/entry/171890
Immgen Expression
LOW
Gnf Expression
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, DORSALROOTGANGLION, HIPPOCAMPUS, AMYGDALA, FRONTALCORTEX, CEREBRALCORTEX, CORTEX, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000059173
Chromosome 2
Coordinate 79,897,077     (Assembly: GRCm38)    
Ref Base A
Codon Change caT/caA
Var Base T
Zygosity Heterozygous
Read Depth 14
Allele Frequency
A:R0.36
T:V0.64
Amino Acid Position 237
Amino Acid Change H->Q (Histidine -> Glutamine)
Sample ID IGL02059
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0.66
Polyphen Prediction Possibly damaging
Sift Score 0.61
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved