|Institutional Source||Beutler Lab|
|Gene Name||phosphodiesterase 1C|
|Is this an essential gene?||Probably non essential (E-score: 0.247)|
|Stock #||R6990 (G1)|
|Chromosomal Location||56069804-56569103 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to G at 56442035 bp|
|Amino Acid Change||Glutamic Acid to Glutamine at position 87 (E87Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000145508 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000203372]|
|Predicted Effect||possibly damaging
AA Change: E87Q
PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: E87Q
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016]
PHENOTYPE: Olfactory sensory nerves from homozygous null mice have significantly reduced action potentials in response to odor with slower onset kinetics and a faster response termination. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pde1c||
(F):5'- TGTGAAAGTTACATGGGAGTCC -3'
(R):5'- TGCCTTGCATATCCTGGGTG -3'
(F):5'- TGGGAGTCCAGTTAGTATTAATTCC -3'
(R):5'- CATATCCTGGGTGGGGATGAAG -3'