|Institutional Source||Beutler Lab|
|Gene Name||phospholipase A2, group XIIB|
|Synonyms||2010002E04Rik, hlb218, Pla2g13|
|Is this an essential gene?||Probably essential (E-score: 0.761)|
|Stock #||R5963 (G1)|
|Chromosomal Location||59403660-59421976 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 59403958 bp|
|Amino Acid Change||Valine to Aspartic acid at position 63 (V63D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000009790 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000009790]|
|Predicted Effect||probably damaging
AA Change: V63D
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: V63D
|Meta Mutation Damage Score||0.4390|
|Coding Region Coverage||
|Validation Efficiency||99% (68/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phospholipase A2 (PLA2) group of enzymes, which function in glycolipid hydrolysis with the release of free fatty acids and lysophospholipids. This family member has altered phospholipid-binding properties and is catalytically inactive. The protein is secreted, and together with microsomal triglyceride transfer protein, it functions to regulate HNF4alpha-induced hepatitis C virus infectivity. The expression of this gene is down-regulated in various tumors, suggesting that it may function as a negative regulator of tumor progression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit a reduction in serum total and HDL cholesterol levels, decreased serum triglyceride levels, and hepatic steatosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pla2g12b||
(F):5'- TGCAAAATGAAGCTGCTCTGC -3'
(R):5'- AGAACCCAGACTTCACTCGG -3'
(F):5'- CGGCTTCTTCCTCCTGTGG -3'
(R):5'- GGCCCCTCACAGGATTTAGTTG -3'