|Institutional Source||Beutler Lab|
|Gene Name||PH domain and leucine rich repeat protein phosphatase 1|
|Is this an essential gene?||Probably non essential (E-score: 0.184)|
|Stock #||R5199 (G1)|
|Chromosomal Location||106171752-106394250 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 106173394 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 464 (V464E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000056530 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061047]|
|Predicted Effect||probably damaging
AA Change: V464E
PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: V464E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.4668|
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating and inactivating the serine/threonine kinase Akt, and functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in obesity and type 2 diabetes by interfering with Akt-mediated insulin signaling. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null mutation display impairment in the ability to stabilize the circadian period after light induced resetting. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Phlpp1||
(F):5'- GTAGACAGCACTGGCGTGATAG -3'
(R):5'- GCGGCATGTGAACAAGCTAG -3'
(F):5'- CGATAAGGCGATGGCAGCC -3'
(R):5'- TGTGAACAAGCTAGAAAAAGAGTGTC -3'