|Institutional Source||Beutler Lab|
|Gene Name||phosphodiesterase 11A|
|Is this an essential gene?||Probably non essential (E-score: 0.242)|
|Stock #||R4073 (G1)|
|Chromosomal Location||75989141-76338774 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 76337898 bp|
|Amino Acid Change||Arginine to Histidine at position 237 (R237H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097572 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099992]|
|Predicted Effect||probably damaging
AA Change: R237H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R237H
|Meta Mutation Damage Score||0.7712|
|Coding Region Coverage||
|Validation Efficiency||96% (67/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele have enlarged lateral ventricles and exhibit abnormal behavior. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pde11a||
(F):5'- GTAGGCATCCGGGATGTTAAC -3'
(R):5'- CATTCTAAGTGCCCTGCTGG -3'
(F):5'- CATCCGGGATGTTAACAGTTTC -3'
(R):5'- GAATCGAGGGTGAATCTGCCTC -3'