Pde8b - SNV Details



 Human Rare Diseases 
Autosomal dominant striatal neurodegeneration
Primary pigmented nodular adrenocortical disease

 Gene Information 
Gene Name Pde8b
Old Gene Names for Pde8b C030047e14rik , B230331l10rik
Gene Description phosphodiesterase 8B [Source:MGI Symbol;Acc:MGI:2443999]
Uniprot Name
CCDS Name
Gene GO
catalytic activity; signal transduction; negative regulation of insulin secretion; metal ion binding; two-component signal transduction system (phosphorelay); cAMP catabolic process; intracellular; 3'
5'-cyclic-nucleotide phosphodiesterase activity; protein binding; cellular_component; regulation of transcription
DNA-dependent; signal transducer activity; two-component response regulator activity
Homolog in other species PDE8B
Omim http://omim.org/entry/603390
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
LOW/MEDIAN
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, DORSALROOTGANGLION, HIPPOCAMPUS, AMYGDALA, FRONTALCORTEX, CEREBRALCORTEX, CORTEX, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021684
Chromosome 13
Coordinate 95,030,402     (Assembly: GRCm38)    
Ref Base T
Codon Change Att/Gtt
Var Base C
Zygosity Heterozygous
Read Depth 31
Allele Frequency
T:R0.39
C:V0.61
Amino Acid Position 622
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL01736
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 0.67
Polyphen Prediction Possibly damaging
Sift Score 0.01
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000124409:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
HD/PDEase domain HD/PDEase_dom IPR003607 ENSMUSP00000124409 Smart 457
640 Description available Search pathways
3'5'-cyclic nucleotide phosphodiesterase, catalytic domain PDEase_catalytic_dom IPR002073 ENSMUSP00000124409 Pfam 459
699 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved