|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 1 (formerly 2C)-like|
|Synonyms||5930404J21Rik, Pp2ce, PP2C-epsilon|
|Is this an essential gene?||Probably non essential (E-score: 0.209)|
|Stock #||R7312 (G1)|
|Chromosomal Location||69316861-69560802 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 69317711 bp|
|Amino Acid Change||Valine to Isoleucine at position 49 (V49I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029355 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029355]|
|Predicted Effect||probably benign
AA Change: V49I
PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
AA Change: V49I
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a magnesium or manganese-requiring phosphatase that is involved in several signaling pathways. The encoded protein downregulates apoptosis signal-regulating kinase 1, a protein that initiates a signaling cascade that leads to apoptosis when cells are subjected to cytotoxic stresses. This protein also is an endoplasmic reticulum transmembrane protein that helps regulate ceramide transport from the endoplasmic reticulum to the Golgi apparatus. Finally, this gene may be involved in adiposity since it is upregulated in adipose tissues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygotes for a null allele show increased body weight and total fat mass, higher blood pressure and plasma glucose levels, lower free fatty acid levels and improved glucose tolerance. Homozygotes for another null allele show postnatal lethality, motor deficits and altered forebrain morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppm1l||
(F):5'- TTCTGGACGACTGTTCCGAG -3'
(R):5'- GAAGCGATCTTCCATGTGGTC -3'
(F):5'- GGTTCGTTCACCCTGTCGG -3'
(R):5'- ATGTGGTCTCTCCGGCC -3'