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|Institutional Source||Beutler Lab|
|Gene Name||pancreatic lipase|
|Synonyms||pancreatic triglyceride lipase, PTL, 1810007A24Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.123)|
|Stock #||R6605 (G1)|
|Chromosomal Location||58670365-58681786 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 58671742 bp|
|Amino Acid Change||Aspartic acid to Valine at position 29 (D29V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000056377 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057270]|
|Predicted Effect||probably benign
AA Change: D29V
PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
AA Change: D29V
|Meta Mutation Damage Score||0.4568|
|Coding Region Coverage||
|Validation Efficiency||92% (35/38)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lipase family of proteins. The encoded enzyme is secreted by the pancreas and hydrolyzes triglycerides in the small intestine, and is essential for the efficient digestion of dietary fats. Inhibition of the encoded enzyme may prevent high-fat diet-induced obesity in mice and result in weight loss in human patients with obesity. Mutations in this gene cause congenital pancreatic lipase deficiency, a rare disorder characterized by steatorrhea. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice show impaired dietary cholesterol, triglyceride and retinyl ester absorption, resistance to diet-induced obesity, and insulin resistance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pnlip||
(F):5'- GATCCTTGAGCAGAGACCTGTG -3'
(R):5'- CCTTAATCTGATTGCTCTAGAAGTC -3'
(F):5'- AGGTGACGGTCAGTAGCCTG -3'
(R):5'- CTGATTGCTCTAGAAGTCTAAACAG -3'