Pde4d - SNV Details

 Human Rare Diseases 
Acrodysostosis with multiple hormone resistance

 Gene Information 
Gene Name Pde4d
Old Gene Names for Pde4d 9630011n22rik , Ai452195
Gene Description phosphodiesterase 4D, cAMP specific [Source:MGI Symbol;Acc:MGI:99555]
MGI phenotype Homozygotes for targeted null mutations exhibit delayed growth, female infertility associated with impaired ovulation, and reduced postnatal viability.
Uniprot Name
Gene GO
regulation of protein kinase A signaling; cyclic-nucleotide phosphodiesterase activity; cellular response to cAMP; enzyme binding; membrane; negative regulation of heart contraction; establishment of endothelial barrier; cellular response to epinephrine stimulus; drug binding; apical plasma membrane; regulation of G-protein coupled receptor protein signaling pathway; signal transduction; SH3 domain binding; positive regulation of smooth muscle cell proliferation; metal ion binding; ATPase binding; negative regulation of peptidyl-serine phosphorylation; cAMP catabolic process; ubiquitin protein ligase binding; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; 3'
5'-cyclic-AMP phosphodiesterase activity; 3'
5'-cyclic-nucleotide phosphodiesterase activity; regulation of ryanodine-sensitive calcium-release channel activity; protein binding; ion channel binding; regulation of cardiac muscle cell contraction; scaffold protein binding; cAMP binding; positive regulation of interleukin-5 production; cellular response to lipopolysaccharide; cytosol; multicellular organism growth; protein domain specific binding; positive regulation of interferon-gamma production; aging; beta-2 adrenergic receptor binding; lung development; microtubule organizing center; positive regulation of interleukin-2 production; voltage-gated calcium channel complex; leukocyte migration; regulation of cell communication by electrical coupling involved in cardiac conduction; regulation of heart rate; myofibril; plasma membrane; regulation of receptor activity; adrenergic receptor signaling pathway; positive regulation of smooth muscle cell migration; memory; smooth muscle contraction; cellular protein complex assembly; calcium channel complex; Golgi apparatus; centrosome; neutrophil chemotaxis; negative regulation of relaxation of cardiac muscle; T cell receptor signaling pathway
Omim http://omim.org/entry/600129
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021699
Chromosome 13
Coordinate 109,936,687     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 12
Allele Frequency
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL00465
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

Polyphen Score 0.18
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved