Mutagenetix > Incidental Mutation

Incidental Mutation 'R5229:Pon1'

403658

Institutional Source

Beutler Lab

Gene Symbol

Pon1

Ensembl Gene

ENSMUSG00000002588

Gene Name

paraoxonase 1

Synonyms

Pon

MMRRC Submission

042802-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5229 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5168101-5193824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5177295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 205 (V205I)

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: V205I

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000002663
Gene: ENSMUSG00000002588
AA Change: V205I

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

Meta Mutation Damage Score

0.5989

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (62/63)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	T	C	1: 16,151,183 (GRCm39)		probably benign	Het
4930562C15Rik	A	G	16: 4,667,915 (GRCm39)	I435M	possibly damaging	Het
Adcy5	A	G	16: 35,089,440 (GRCm39)	I546V	probably damaging	Het
Apob	A	G	12: 8,027,806 (GRCm39)	T10A	probably benign	Het
Brwd1	C	A	16: 95,803,409 (GRCm39)	D2254Y	possibly damaging	Het
Bub1b	C	A	2: 118,460,470 (GRCm39)	D600E	probably damaging	Het
Cnga1	A	G	5: 72,766,843 (GRCm39)	S199P	probably damaging	Het
Cyp3a11	G	T	5: 145,791,945 (GRCm39)	L483I	probably benign	Het
Depp1	T	C	6: 116,628,992 (GRCm39)	S112P	possibly damaging	Het
Dpysl3	C	A	18: 43,466,016 (GRCm39)	G457V	probably damaging	Het
Eif4g3	C	A	4: 137,824,105 (GRCm39)	P36T	possibly damaging	Het
Epb41	C	A	4: 131,706,246 (GRCm39)	G415C	probably damaging	Het
Erap1	G	A	13: 74,808,494 (GRCm39)	V69M	possibly damaging	Het
F2	A	T	2: 91,460,586 (GRCm39)	Y301*	probably null	Het
F2rl2	A	T	13: 95,837,195 (GRCm39)	N80I	possibly damaging	Het
Fam237b	A	T	5: 5,625,565 (GRCm39)	Y87F	possibly damaging	Het
Gm15446	T	G	5: 110,091,036 (GRCm39)	H429Q	probably damaging	Het
Gpat3	G	A	5: 101,031,290 (GRCm39)	G148D	probably damaging	Het
Gpr26	A	T	7: 131,585,976 (GRCm39)	R315S	probably damaging	Het
Hdac9	A	C	12: 34,487,163 (GRCm39)	H100Q	probably damaging	Het
Heatr5a	A	T	12: 51,994,761 (GRCm39)	V457D	probably benign	Het
Igkv10-96	A	G	6: 68,609,223 (GRCm39)	M24T	possibly damaging	Het
Igkv2-95-2	A	G	6: 68,625,095 (GRCm39)		noncoding transcript	Het
Kdm4a	G	A	4: 118,003,802 (GRCm39)	S758F	probably damaging	Het
Lrg1	A	G	17: 56,427,154 (GRCm39)	W273R	probably damaging	Het
Man2a1	A	T	17: 65,017,729 (GRCm39)	Q658H	probably benign	Het
Mapkapk5	T	C	5: 121,671,454 (GRCm39)		probably null	Het
Mcm6	T	C	1: 128,261,321 (GRCm39)	D761G	possibly damaging	Het
Myh8	A	T	11: 67,175,310 (GRCm39)	Y286F	probably damaging	Het
Nbn	C	T	4: 15,963,893 (GRCm39)	T98I	probably damaging	Het
Nrdc	T	C	4: 108,906,305 (GRCm39)	S685P	probably damaging	Het
Nudcd3	A	G	11: 6,143,238 (GRCm39)	V80A	probably benign	Het
Or10al5	A	G	17: 38,063,192 (GRCm39)	H149R	probably benign	Het
Or5p54	A	G	7: 107,554,376 (GRCm39)	H176R	probably damaging	Het
Pdcd6ip	A	T	9: 113,507,401 (GRCm39)	M390K	probably damaging	Het
Ppp4r2	C	A	6: 100,842,176 (GRCm39)	H212Q	probably benign	Het
Pramel32	T	C	4: 88,548,372 (GRCm39)	D11G	possibly damaging	Het
Prl2c5	G	A	13: 13,360,441 (GRCm39)	C33Y	probably damaging	Het
Rbak	A	G	5: 143,159,917 (GRCm39)	F379L	probably damaging	Het
Rcc2	G	A	4: 140,444,340 (GRCm39)	D344N	probably damaging	Het
Rgs3	T	C	4: 62,620,424 (GRCm39)	L550P	probably damaging	Het
Rnasek	A	T	11: 70,130,486 (GRCm39)	M25K	probably damaging	Het
Scgb1b24	A	T	7: 33,443,520 (GRCm39)	T60S	possibly damaging	Het
Scn5a	A	G	9: 119,365,042 (GRCm39)	F392S	probably damaging	Het
Scpep1	A	T	11: 88,827,871 (GRCm39)	V209E	probably damaging	Het
Slc35g1	A	G	19: 38,391,080 (GRCm39)		probably null	Het
Sorbs1	A	G	19: 40,329,151 (GRCm39)	I554T	probably damaging	Het
Spats1	A	G	17: 45,777,059 (GRCm39)		probably benign	Het
Tdp1	A	G	12: 99,859,919 (GRCm39)	Q202R	probably damaging	Het
Trav6-5	T	G	14: 53,729,045 (GRCm39)	S102A	probably damaging	Het
Tspan2	T	C	3: 102,676,215 (GRCm39)	M208T	probably damaging	Het
Ube4b	A	G	4: 149,471,635 (GRCm39)	S84P	probably damaging	Het
Vmn1r237	C	A	17: 21,534,633 (GRCm39)	Q119K	probably benign	Het
Vmn2r125	C	T	4: 156,703,333 (GRCm39)	T237I	probably benign	Het
Zfp65	A	T	13: 67,856,929 (GRCm39)	S117T	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
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
R9773:Pon1	UTSW	6	5,177,339 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ATCCTTAAGTATCAGTAGTGTTGGC -3'
(R):5'- GCTACCTCTGATGGTGTGAAG -3'

Sequencing Primer
(F):5'- TCCAGTTTCATCTTACTAACACAAC -3'
(R):5'- TAGCTGCTATTGGACCTG -3'

Posted On

2016-07-22