Mutagenetix > Incidental Mutation

Incidental Mutation 'R9773:Pon1'

733523

Institutional Source

Beutler Lab

Gene Symbol

Pon1

Ensembl Gene

ENSMUSG00000002588

Gene Name

paraoxonase 1

Synonyms

Pon

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9773 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5168101-5193824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5177339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 190 (Y190C)

Ref Sequence

ENSEMBL: ENSMUSP00000002663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002663] [ENSMUST00000176945] [ENSMUST00000177159]

AlphaFold

P52430

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002663
AA Change: Y190C

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000002663
Gene: ENSMUSG00000002588
AA Change: Y190C

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
Pfam:SGL	83	308	1.9e-13	PFAM
Pfam:Arylesterase	168	253	9e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176945

SMART Domains

Protein: ENSMUSP00000135728
Gene: ENSMUSG00000002588

Domain	Start	End	E-Value	Type
PDB:3SRG\|A	1	165	9e-86	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000177159

SMART Domains

Protein: ENSMUSP00000135195
Gene: ENSMUSG00000002588

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
Pfam:Arylesterase	145	186	2.1e-7	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene is an arylesterase that mainly hydrolyzes paroxon to produce p-nitrophenol. Paroxon is an organophosphorus anticholinesterase compound that is produced in vivo by oxidation of the insecticide parathion. Polymorphisms in this gene are a risk factor in coronary artery disease. The gene is found in a cluster of three related paraoxonase genes at 7q21.3. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutation of this gene results in increased susceptibility to organophosphate toxicity and atherosclerosis when fed a high-fat/cholesterol diet. Females exhibit increased LDL and VLD cholesterol levels. Macrophages show increased oxidative stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,668,057 (GRCm39)	Y483H	possibly damaging	Het
Abca17	A	G	17: 24,508,565 (GRCm39)	L990P	probably damaging	Het
Ankrd65	A	C	4: 155,877,424 (GRCm39)	T312P	probably damaging	Het
Atp23	G	A	10: 126,734,763 (GRCm39)	T103M	possibly damaging	Het
Bmpr2	T	A	1: 59,907,497 (GRCm39)	S863R	probably damaging	Het
Cacna1c	T	A	6: 118,647,371 (GRCm39)	N992I		Het
Cacnb2	A	G	2: 14,976,452 (GRCm39)	E291G	probably damaging	Het
Calcrl	T	C	2: 84,200,462 (GRCm39)	Q106R	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cngb1	G	A	8: 95,975,042 (GRCm39)	H1144Y	probably damaging	Het
Cnot4	A	T	6: 35,056,920 (GRCm39)	N50K	probably damaging	Het
Coasy	T	C	11: 100,975,163 (GRCm39)	L240P	probably damaging	Het
D7Ertd443e	G	A	7: 133,959,803 (GRCm39)	T12M	probably benign	Het
Exoc3l2	A	G	7: 19,203,697 (GRCm39)	I96M		Het
Fbn2	A	G	18: 58,143,481 (GRCm39)	L2858P	probably benign	Het
Fbxw21	A	G	9: 108,977,128 (GRCm39)	S194P	possibly damaging	Het
Fry	T	C	5: 150,322,728 (GRCm39)	L1040P	probably damaging	Het
Gimap8	C	T	6: 48,633,568 (GRCm39)	P300S	unknown	Het
Gm10801	T	G	2: 98,494,345 (GRCm39)	F141V	probably benign	Het
Gm21903	G	A	17: 39,353,541 (GRCm39)	T25I	unknown	Het
Gucy2d	T	C	7: 98,099,048 (GRCm39)	V288A	possibly damaging	Het
Hs6st3	A	T	14: 120,106,948 (GRCm39)	D452V	probably benign	Het
Igkv5-43	T	A	6: 69,752,858 (GRCm39)	I75F	probably damaging	Het
Itgad	G	A	7: 127,789,222 (GRCm39)	R562H	probably damaging	Het
Kbtbd12	T	A	6: 88,524,744 (GRCm39)	D613V	probably damaging	Het
Kcnn2	A	G	18: 45,788,365 (GRCm39)	T363A	probably damaging	Het
Kyat3	A	G	3: 142,431,820 (GRCm39)	I213M	probably damaging	Het
Lrig2	A	T	3: 104,368,838 (GRCm39)	H948Q	probably benign	Het
Marchf7	C	T	2: 60,064,785 (GRCm39)	R354*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Myh4	C	T	11: 67,137,263 (GRCm39)	H495Y	probably damaging	Het
Or13a23-ps1	T	C	7: 140,118,649 (GRCm39)	V73A	probably benign	Het
Or4d10b	A	T	19: 12,036,939 (GRCm39)	M59K	possibly damaging	Het
Or6c69c	T	A	10: 129,910,360 (GRCm39)	I27N	possibly damaging	Het
Plcb2	T	C	2: 118,541,274 (GRCm39)	E1021G	probably damaging	Het
Plekhg2	G	A	7: 28,069,743 (GRCm39)	P97S	probably damaging	Het
Pth1r	C	A	9: 110,556,233 (GRCm39)	R213S	possibly damaging	Het
Ptprg	A	G	14: 12,199,806 (GRCm38)	D848G	probably damaging	Het
Rnpepl1	C	A	1: 92,847,559 (GRCm39)	D715E	probably damaging	Het
Serpinb3b	C	A	1: 107,085,416 (GRCm39)	K108N	possibly damaging	Het
Slc1a1	C	T	19: 28,870,283 (GRCm39)	A94V	probably damaging	Het
Slc22a30	A	T	19: 8,321,754 (GRCm39)	Y437N	probably benign	Het
Slc2a7	C	T	4: 150,234,044 (GRCm39)	T53I	possibly damaging	Het
Spag1	A	G	15: 36,234,711 (GRCm39)	T824A	probably benign	Het
Spmip7	G	A	11: 11,438,572 (GRCm39)	V272M	unknown	Het
Synj2	T	A	17: 6,094,232 (GRCm39)	Y1153N	probably benign	Het
Ttll2	A	T	17: 7,618,676 (GRCm39)	I417K	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Uevld	A	G	7: 46,597,659 (GRCm39)		probably null	Het
Vmn2r38	A	G	7: 9,097,806 (GRCm39)	S96P	probably damaging	Het
Vmn2r92	A	G	17: 18,386,949 (GRCm39)	N96S	probably damaging	Het
Vmn2r97	T	A	17: 19,168,221 (GRCm39)	I825N	probably benign	Het
Vps13d	T	A	4: 144,818,619 (GRCm39)	M3083L		Het
Wdr35	A	G	12: 9,039,990 (GRCm39)	N365S	probably benign	Het

Other mutations in Pon1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01655:Pon1	APN	6	5,175,760 (GRCm39)	missense	probably damaging	1.00
IGL02511:Pon1	APN	6	5,193,724 (GRCm39)	missense	probably damaging	1.00
IGL02604:Pon1	APN	6	5,168,375 (GRCm39)	missense	probably damaging	1.00
PIT4618001:Pon1	UTSW	6	5,168,349 (GRCm39)	missense	probably damaging	1.00
R0717:Pon1	UTSW	6	5,193,674 (GRCm39)	critical splice donor site	probably null
R0838:Pon1	UTSW	6	5,175,758 (GRCm39)	missense	possibly damaging	0.75
R2365:Pon1	UTSW	6	5,171,746 (GRCm39)	missense	probably damaging	1.00
R4525:Pon1	UTSW	6	5,177,412 (GRCm39)	critical splice acceptor site	probably null
R5229:Pon1	UTSW	6	5,177,295 (GRCm39)	missense	possibly damaging	0.56
R5412:Pon1	UTSW	6	5,185,314 (GRCm39)	missense	probably damaging	1.00
R5973:Pon1	UTSW	6	5,185,334 (GRCm39)	missense	probably damaging	1.00
R6594:Pon1	UTSW	6	5,185,314 (GRCm39)	missense	probably damaging	1.00
R6985:Pon1	UTSW	6	5,168,345 (GRCm39)	missense	probably benign	0.01
R7439:Pon1	UTSW	6	5,177,399 (GRCm39)	missense	probably damaging	1.00
R7543:Pon1	UTSW	6	5,168,400 (GRCm39)	missense	possibly damaging	0.68
R7691:Pon1	UTSW	6	5,175,819 (GRCm39)	missense	probably benign	0.01
R7756:Pon1	UTSW	6	5,168,344 (GRCm39)	missense	probably benign
R7758:Pon1	UTSW	6	5,168,344 (GRCm39)	missense	probably benign
R8444:Pon1	UTSW	6	5,177,327 (GRCm39)	nonsense	probably null
R8478:Pon1	UTSW	6	5,185,318 (GRCm39)	missense	probably damaging	1.00
R8517:Pon1	UTSW	6	5,171,769 (GRCm39)	missense	probably benign	0.02
R9346:Pon1	UTSW	6	5,193,722 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTGTAAAGCTATATAAGGAGACGC -3'
(R):5'- GGCTAGAACTGACGTTGTAGTG -3'

Sequencing Primer
(F):5'- GACGCCAAGAAAACTCATTGTGTTC -3'
(R):5'- AGCTGCTATTGGACCTGA -3'

Posted On

2022-11-14