|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 2, regulatory subunit B', alpha|
|Is this an essential gene?||Possibly non essential (E-score: 0.278)|
|Stock #||R7311 (G1)|
|Chromosomal Location||191351975-191403272 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 191357801 bp|
|Amino Acid Change||Isoleucine to Lysine at position 252 (I252K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000070726 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000067976]|
|Predicted Effect||probably damaging
AA Change: I252K
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I252K
|Predicted Effect||probably benign
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B56 subfamily. Alternative transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppp2r5a||
(F):5'- GGCAAGGCTATGTAGATCCAAC -3'
(R):5'- GTGAACCAGAAGCCTTGAGG -3'
(F):5'- ACAACAGTGTATGTGTGTGTGTATAC -3'
(R):5'- GCCACTGCTTGCTGTTA -3'