|Institutional Source||Beutler Lab|
|Gene Name||lipase, endothelial|
|Synonyms||endothelial lipase, EL, mEDL, 3110013K01Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.147)|
|Stock #||R1611 (G1)|
|Chromosomal Location||74939322-74961263 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 74948059 bp|
|Amino Acid Change||Asparagine to Serine at position 317 (N317S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000066536 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000066532]|
|Predicted Effect||possibly damaging
AA Change: N317S
PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: N317S
|Meta Mutation Damage Score||0.122|
|Coding Region Coverage||
|Validation Efficiency||97% (75/77)|
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'- ATGCCAGCCCGGGTTTTTAA -3'
(R):5'- CATGAGTGTGTATTGACCACTGAC -3'