|Institutional Source||Beutler Lab|
|Gene Name||phosphodiesterase 3A, cGMP inhibited|
|Is this an essential gene?||Possibly non essential (E-score: 0.301)|
|Stock #||R4592 (G1)|
|Chromosomal Location||141249269-141507448 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 141459216 bp|
|Amino Acid Change||Lysine to Arginine at position 389 (K389R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038749 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043259]|
|Predicted Effect||probably benign
AA Change: K389R
PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: K389R
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0739|
|Coding Region Coverage||
|Validation Efficiency||98% (64/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellular cyclic nucleotide signals. The encoded protein mediates platelet aggregation and also plays important roles in cardiovascular function by regulating vascular smooth muscle contraction and relaxation. Inhibitors of the encoded protein may be effective in treating congestive heart failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mice display female infertility with oocyte arrest. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pde3a||
(F):5'- ACCCTGACGTCTTGCTTTGG -3'
(R):5'- TCCTATCCCGGAACACTGAAAG -3'
(F):5'- CTTGCTTTGGTGTTCCAGTCAG -3'
(R):5'- GGTAACAGTAAGCCATGTCTACTGTC -3'