|Institutional Source||Beutler Lab|
|Gene Name||paraoxonase 3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4940 (G1)|
|Chromosomal Location||5220852-5256286 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 5221625 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 335 (V335E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031773 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031773] [ENSMUST00000129344]|
|Predicted Effect||possibly damaging
AA Change: V335E
PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: V335E
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the paraoxonase family and lies in a cluster on chromosome 7 with the other two family members. The encoded protein is secreted into the bloodstream and associates with high-density lipoprotein (HDL). The protein also rapidly hydrolyzes lactones and can inhibit the oxidation of low-density lipoprotein (LDL), a function that is believed to slow the initiation and progression of atherosclerosis. Alternatively spliced variants which encode different protein isoforms have been described; however, only one has been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show prenatal and postnatal lethality. Homozygotes for a different null allele are viable but show altered lipid and bile acid metabolism, impaired mitochondrial respiration, and increased susceptibility to diet-induced atherosclerosis, gallstone formation, and obesity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pon3||
(F):5'- ATCTGGTTGCCACTCACTAACTTG -3'
(R):5'- TCCCAGAATCGGTGGAAAGG -3'
(F):5'- GCCACTCACTAACTTGATTCTTG -3'
(R):5'- TGGAAAGGGAAATAGCTCTGTATAGC -3'