|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 1F (PP2C domain containing)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1812 (G1)|
|Chromosomal Location||16896469-16927364 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 16917787 bp|
|Amino Acid Change||Histidine to Arginine at position 289 (H289R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027373 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027373] [ENSMUST00000232247]|
|Predicted Effect||probably damaging
AA Change: H289R
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: H289R
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (1/1)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation are not detected at weaning. Mice heterozygous for a targeted mutation display hyperactivity and an increase in pain threshold. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppm1f||
(F):5'- CATAAGTAGGGCTGTGGGTTCC -3'
(R):5'- TCTGGGCTCTCACTGTGATC -3'
(F):5'- GTGTAGGCTCGTTTTCCTCCTCAG -3'
(R):5'- AGAACTCTCTGGAGGGCTCATG -3'