|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 1, catalytic subunit, alpha isoform|
|Essential gene?||Probably essential (E-score: 0.956)|
|Stock #||R2680 (G1)|
|Chromosomal Location||4192158-4195419 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 4194595 bp (GRCm38)|
|Amino Acid Change||Glutamic Acid to Lysine at position 218 (E218K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039109 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025740] [ENSMUST00000045864] [ENSMUST00000046094]|
AA Change: E218K
PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: E218K
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stage of heart failure. Studies in both human and mice suggest that PP1 is an important regulator of cardiac function. Mouse studies also suggest that PP1 functions as a suppressor of learning and memory. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppp1ca||
(F):5'- CAGGACAGCACTTGGTTTAAG -3'
(R):5'- CACCAACTGTCTCTTGGCAAAG -3'
(F):5'- CAGCACTTGGTTTAAGGAACAC -3'
(R):5'- CTGTCTCTTGGCAAAGAACTCATAGC -3'