|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 2, regulatory subunit B'', alpha|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1458 (G1)|
|Chromosomal Location||101105084-101251795 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 101211312 bp (GRCm38)|
|Amino Acid Change||Leucine to Proline at position 604 (L604P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075327 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075941]|
AA Change: L604P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L604P
|Meta Mutation Damage Score||0.2571|
|Coding Region Coverage||
|Validation Efficiency||98% (95/97)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the regulatory subunits of the protein phosphatase 2. Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the alpha subfamily of regulatory subunit B''. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Jun 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppp2r3a||
(F):5'- CTTCTGGCGTCTGCTGAATCAAAAC -3'
(R):5'- ACCACTTGCCAAGGGTAAAAGCATC -3'
(F):5'- GTCTGCTGAATCAAAACAACTGAAG -3'
(R):5'- ATAGTCATTTGACTGCTCAGAGCC -3'