|Institutional Source||Beutler Lab|
|Gene Name||phosphodiesterase 8A|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0547 (G1)|
|Chromosomal Location||81213596-81334533 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 81324130 bp|
|Amino Acid Change||Valine to Leucine at position 612 (V612L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026672 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026672]|
|Predicted Effect||probably benign
AA Change: V612L
PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
AA Change: V612L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1612|
|Coding Region Coverage||
|Validation Efficiency||98% (57/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pde8a||
(F):5'- GGAGTTGTTCTGTCAGCCAAGCAC -3'
(R):5'- TGTTCATCTCCAGATGCAGGTTCG -3'
(F):5'- ACAGGATCTGCTCAGATAATGTG -3'
(R):5'- CGGGCTGGGTCAGCATC -3'