|Institutional Source||Beutler Lab|
|Gene Name||phosphodiesterase 1B, Ca2+-calmodulin dependent|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7116 (G1)|
|Chromosomal Location||103503034-103530052 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 103528318 bp (GRCm38)|
|Amino Acid Change||Leucine to Proline at position 534 (L534P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023132 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023132] [ENSMUST00000023133] [ENSMUST00000226468] [ENSMUST00000227955]|
AA Change: L534P
PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: L534P
AA Change: L515P
PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|Coding Region Coverage||
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 PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display increased exploratory behavior. Learning deficits and hyperactivity are also observed in some situations. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pde1b||
(F):5'- TGGTAGATGAGGGTCAGTCC -3'
(R):5'- TTCAAGAAAGGACTGTGGGACC -3'
(F):5'- AGGGTCAGTCCTCTTATTTTCTTCAC -3'
(R):5'- AAGGTAGTAGGAGTCCCTTGC -3'