|Institutional Source||Beutler Lab|
|Gene Name||lipase, endothelial|
|Synonyms||endothelial lipase, EL, mEDL, 3110013K01Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.137)|
|Stock #||R0172 (G1)|
|Chromosomal Location||74939322-74961263 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 74948174 bp|
|Amino Acid Change||Histidine to Asparagine at position 279 (H279N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000066536 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000066532]|
|Predicted Effect||possibly damaging
AA Change: H279N
PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
AA Change: H279N
|Meta Mutation Damage Score||0.4798|
|Coding Region Coverage||
|Validation Efficiency||82% (40/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has substantial phospholipase activity and may be involved in lipoprotein metabolism and vascular biology. This protein is designated a member of the TG lipase family by its sequence and characteristic lid region which provides substrate specificity for enzymes of the TG lipase family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased circulating total cholesterol and HDL as well as decreased monocyte binding to vascular endothelium. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lipg||
(F):5'- GCTACTACACACCCTGCTCTTCAAG -3'
(R):5'- CCTGTGTTAAGAATCACCCACTGCC -3'
(F):5'- AAGCCTAAGGGGCACTTG -3'
(R):5'- CAGCCTTAACAAACCTAACTGG -3'