|Institutional Source||Beutler Lab|
|Gene Name||paraoxonase 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7517 (G1)|
|Chromosomal Location||5264147-5298455 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 5268997 bp (GRCm38)|
|Amino Acid Change||Asparagine to Histidine at position 226 (N226H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062670 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057792]|
AA Change: N226H
PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: N226H
|Meta Mutation Damage Score||0.0946|
|Coding Region Coverage||
|Validation Efficiency||100% (46/46)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: When fed an atherogenic diet, mice homozygous for a gene trapped allele show markedly lower VLDL/LDL cholesterol and serum apoB levels, higher cellular oxidative stress, enhanced macrophage immunoreactivity and LDL-induced monocyte chemotaxis, and largeratheromatous lesions than wild-type mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pon2||
(F):5'- CCATCAACAGAGAAATGGTTAAGTC -3'
(R):5'- ACATCATAGCTGTTGGGCCC -3'
(F):5'- TTGAAGGAGGAATTTTAAAACCTGG -3'
(R):5'- GGCCCACCCACTTCTACG -3'