|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 5, catalytic subunit|
|Synonyms||ANP receptor, PP5|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7760 (G1)|
|Chromosomal Location||17004640-17027924 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 17006349 bp|
|Amino Acid Change||Serine to Proline at position 387 (S387P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003183 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003183]|
|Predicted Effect||probably damaging
AA Change: S387P
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: S387P
AA Change: S363P
|Meta Mutation Damage Score||0.8702|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways regulated by reversible phosphorylation at serine and threonine residues; many of these pathways are involved in the regulation of cell growth and differentiation. The product of this gene has been shown to participate in signaling pathways in response to hormones or cellular stress, and elevated levels of this protein may be associated with breast cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit a decrease in cell cycle check-point arrest following treatment with ionizing radition. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppp5c||
(F):5'- GGCTGCGGATGATATAGTCCAG -3'
(R):5'- AAAGTTCCATCCAGCAGCAG -3'
(F):5'- CAGTTGATTCTCCTCCAGGAAGG -3'
(R):5'- CAGCAGGCTTATAATGGATAGACTG -3'