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|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 2, regulatory subunit B', delta|
|Synonyms||TEG-271, B'delta, Tex271|
|Is this an essential gene?||Probably non essential (E-score: 0.198)|
|Stock #||R7237 (G1)|
|Chromosomal Location||46682991-46705002 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 46686280 bp|
|Amino Acid Change||Serine to Glycine at position 329 (S329G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002839 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002839] [ENSMUST00000002845]|
|Predicted Effect||possibly damaging
AA Change: S329G
PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: S329G
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.2854|
|Coding Region Coverage||
|Validation Efficiency||98% (83/85)|
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 a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene-trap allele exhibit lethality, while heterozygous mice display decreased prepulse inhibition. Mice homozygous for a targeted knock-out allele exhibit decreased thermal nociception threshold, impaired coordination, and increasedlatency to removing an adhesive sticker. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppp2r5d||
(F):5'- AATTACCGGCTCAGTGAGAC -3'
(R):5'- AGGTGACCGTTTTCCATTAGG -3'
(F):5'- GCTCAGTGAGACTGCTCTC -3'
(R):5'- GGTTTATCTATGAGACTGAGCATCAC -3'