|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 1, regulatory subunit 3D|
|Is this an essential gene?||Possibly non essential (E-score: 0.352)|
|Stock #||R6672 (G1)|
|Chromosomal Location||178411206-178414472 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 178413759 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 150 (E150G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000061402 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058678] [ENSMUST00000094251]|
|Predicted Effect||possibly damaging
AA Change: E150G
PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: E150G
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1629|
|Coding Region Coverage||
|Validation Efficiency||100% (31/31)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphorylation of serine and threonine residues in proteins is a crucial step in the regulation of many cellular functions ranging from hormonal regulation to cell division and even short-term memory. The level of phosphorylation is controlled by the opposing actions of protein kinases and protein phosphatases. Protein phosphatase 1 (PP1) is 1 of 4 major serine/threonine-specific protein phosphatases which have been identified in eukaryotic cells. PP1 associates with various regulatory subunits that dictate its subcellular localization and modulate its substrate specificity. Several subunits that target PP1 to glycogen have been identified. This gene encodes a glycogen-targeting subunit of PP1. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppp1r3d||
(F):5'- TTGTCCCAGTACTCAGCACC -3'
(R):5'- GCAGGTCAAGGTGTTTAACGC -3'
(F):5'- GAAGATGTCCTCGGTACCTTCAG -3'
(R):5'- TGTTTAACGCAGGCGACGATC -3'