|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4992 (G1)|
|Chromosomal Location||52098681-52127778 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 52113206 bp|
|Amino Acid Change||Histidine to Glutamine at position 63 (H63Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020608 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020608]|
|Predicted Effect||possibly damaging
AA Change: H63Q
PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: H63Q
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.284|
|Coding Region Coverage||
|Validation Efficiency||98% (84/86)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the phosphatase 2A catalytic subunit. 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. This gene encodes an alpha isoform of the catalytic subunit. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos die before gastrulation and exhibit widespread degeneration. Mesoderm is not formed. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppp2ca||
(F):5'- TCAGTCTTGTGTTGCAAATGC -3'
(R):5'- ACCGTGGAAGTCTGTTCTAAAATTC -3'
(F):5'- CAGTCTTGTGTTGCAAATGCCTATG -3'
(R):5'- GAACCTTTCAGATAGCTCTTACCCAG -3'