|Institutional Source||Beutler Lab|
|Gene Name||carboxyl ester lipase|
|Is this an essential gene?||Probably non essential (E-score: 0.125)|
|Stock #||R0321 (G1)|
|Chromosomal Location||28555795-28563403 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 28561148 bp (GRCm38)|
|Amino Acid Change||Glutamine to Lysine at position 66 (Q66K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028161 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028161]|
AA Change: Q66K
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: Q66K
|Meta Mutation Damage Score||0.0713|
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced cholesteryl ester absorption. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cel||
(F):5'- TGGGGCACCCAGATATTGAGGTAG -3'
(R):5'- GACAGCCATCAAGCCTTAGAGGAAG -3'
(F):5'- GAGGCAGTCTTCTTGCCCATAG -3'
(R):5'- TCTCAGCCGAGATCTAGACTG -3'