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|Institutional Source||Beutler Lab|
|Gene Name||prolyl endopeptidase|
|Synonyms||prolyl oligopeptidase, Pop, D10Wsu136e|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4493 (G1)|
|Chromosomal Location||45067203-45167198 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 45120819 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 398 (F398L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097444 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099858]|
|Predicted Effect||probably benign
AA Change: F398L
PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: F398L
|Meta Mutation Damage Score||0.3309|
|Coding Region Coverage||
|Validation Efficiency||94% (45/48)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit sex-dependent resistance to diet-induced obesity and adiposity. Mice heterozygous for a gene trap allele exhibit maternal inheritance influenced increase in body weight, organ weight, and adiposity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prep||
(F):5'- CTGTCATTTCAGAATGGGTGGC -3'
(R):5'- TTGGCACTGAGAACAAGGGC -3'
(F):5'- GGCTTGTGTCAGGTCCAAC -3'
(R):5'- ACTCCCGGCAGAGGAGTTAG -3'