Mutagenetix > Incidental Mutation

Incidental Mutation 'R8142:Pon2'

632581

Institutional Source

Beutler Lab

Gene Symbol

Pon2

Ensembl Gene

ENSMUSG00000032667

Gene Name

paraoxonase 2

Synonyms

6330405I24Rik

MMRRC Submission

067570-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8142 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5264620-5298408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5266239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 260 (V260D)

Ref Sequence

ENSEMBL: ENSMUSP00000062670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057792]

AlphaFold

Q62086

Predicted Effect

probably benign
Transcript: ENSMUST00000057792
AA Change: V260D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000062670
Gene: ENSMUSG00000032667
AA Change: V260D

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
Pfam:SGL	107	303	1e-12	PFAM
Pfam:Arylesterase	167	252	3.9e-43	PFAM

Coding Region Coverage

1x: 99.7%
3x: 99.5%
10x: 98.0%
20x: 91.7%

Validation Efficiency

MGI Phenotype

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

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1e2	A	T	17: 87,252,083 (GRCm39)	I105N	possibly damaging	Het
Azi2	A	G	9: 117,878,475 (GRCm39)	D105G	probably damaging	Het
Bmpr2	T	C	1: 59,909,465 (GRCm39)	S980P	probably damaging	Het
Ccno	T	G	13: 113,125,489 (GRCm39)	L151R	probably damaging	Het
Cdh2	A	C	18: 16,734,791 (GRCm39)	I801S	probably benign	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Dab1	T	A	4: 104,535,921 (GRCm39)	V110D	probably damaging	Het
Dnah3	T	C	7: 119,660,189 (GRCm39)	T828A	probably benign	Het
Dnah5	G	T	15: 28,384,519 (GRCm39)	V3088L	probably benign	Het
Dtd2	T	A	12: 52,046,593 (GRCm39)	D82V	probably damaging	Het
Dusp5	T	C	19: 53,525,912 (GRCm39)	F185L	probably damaging	Het
Epha10	A	G	4: 124,779,639 (GRCm39)	T162A	probably damaging	Het
Fat4	A	T	3: 38,945,352 (GRCm39)	D1415V	probably damaging	Het
Fitm1	T	C	14: 55,813,247 (GRCm39)	Y37H	possibly damaging	Het
Flg2	G	T	3: 93,122,782 (GRCm39)	E1651*	probably null	Het
Ifit3	G	T	19: 34,564,901 (GRCm39)	C149F	probably damaging	Het
Lepr	C	A	4: 101,622,616 (GRCm39)	H465Q	possibly damaging	Het
Ltn1	A	C	16: 87,178,529 (GRCm39)	S1567A	probably benign	Het
Marchf1	T	C	8: 66,908,778 (GRCm39)	V166A	probably benign	Het
Marveld2	T	C	13: 100,737,448 (GRCm39)	H424R	possibly damaging	Het
Mypop	A	G	7: 18,735,051 (GRCm39)	T383A	unknown	Het
Ngef	G	C	1: 87,468,463 (GRCm39)	R99G	probably benign	Het
Nherf4	A	G	9: 44,162,078 (GRCm39)		probably null	Het
Npepps	G	T	11: 97,109,398 (GRCm39)	A726D	probably damaging	Het
Or6c63-ps1	T	A	10: 128,900,519 (GRCm39)	D9V	probably benign	Het
Pcdhgb4	A	G	18: 37,854,166 (GRCm39)	D187G	probably damaging	Het
Per2	T	C	1: 91,349,269 (GRCm39)	E1034G	possibly damaging	Het
Pira1	A	G	7: 3,739,842 (GRCm39)	S418P	possibly damaging	Het
Pkhd1l1	G	A	15: 44,378,327 (GRCm39)	R1027H	probably benign	Het
Rnase13	A	G	14: 52,159,893 (GRCm39)	I82T	probably damaging	Het
Sbno1	A	G	5: 124,546,608 (GRCm39)	S194P	probably benign	Het
Serpinb6c	T	A	13: 34,064,096 (GRCm39)	I320L	probably benign	Het
Sh3rf3	C	T	10: 58,885,205 (GRCm39)	R363*	probably null	Het
Slc11a1	T	C	1: 74,424,418 (GRCm39)	F500L	probably benign	Het
Slc1a4	A	G	11: 20,257,890 (GRCm39)		probably null	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Sorcs2	T	C	5: 36,219,958 (GRCm39)	N362S	possibly damaging	Het
Stau2	A	G	1: 16,530,575 (GRCm39)	S115P	unknown	Het
Stk38l	A	G	6: 146,660,070 (GRCm39)	N34S	probably benign	Het
Tmem201	T	C	4: 149,803,114 (GRCm39)	T585A	probably benign	Het
Ttc6	A	T	12: 57,744,258 (GRCm39)	I1297F	possibly damaging	Het
Uncx	A	G	5: 139,532,655 (GRCm39)	D240G	possibly damaging	Het
Vmn2r88	A	G	14: 51,651,564 (GRCm39)	I293V		Het
Vps11	T	C	9: 44,265,852 (GRCm39)	T476A	probably benign	Het
Vrtn	T	C	12: 84,697,395 (GRCm39)	L715P	probably damaging	Het
Wdr72	T	G	9: 74,046,949 (GRCm39)	V65G	probably damaging	Het
Zbtb21	T	C	16: 97,752,675 (GRCm39)	E536G	probably damaging	Het
Zbtb34	G	T	2: 33,302,493 (GRCm39)	S16*	probably null	Het
Zfhx2	G	A	14: 55,310,895 (GRCm39)	L600F	possibly damaging	Het

Other mutations in Pon2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01598:Pon2	APN	6	5,272,331 (GRCm39)	missense	probably damaging	1.00
IGL02683:Pon2	APN	6	5,269,062 (GRCm39)	missense	probably damaging	1.00
IGL03240:Pon2	APN	6	5,265,316 (GRCm39)	utr 3 prime	probably benign
R0102:Pon2	UTSW	6	5,289,091 (GRCm39)	splice site	probably benign
R0102:Pon2	UTSW	6	5,289,091 (GRCm39)	splice site	probably benign
R0360:Pon2	UTSW	6	5,266,156 (GRCm39)	nonsense	probably null
R0364:Pon2	UTSW	6	5,266,156 (GRCm39)	nonsense	probably null
R0402:Pon2	UTSW	6	5,272,410 (GRCm39)	nonsense	probably null
R0494:Pon2	UTSW	6	5,267,059 (GRCm39)	splice site	probably benign
R1593:Pon2	UTSW	6	5,273,003 (GRCm39)	missense	probably benign
R3001:Pon2	UTSW	6	5,268,976 (GRCm39)	critical splice donor site	probably null
R3002:Pon2	UTSW	6	5,268,976 (GRCm39)	critical splice donor site	probably null
R3236:Pon2	UTSW	6	5,266,986 (GRCm39)	missense	possibly damaging	0.59
R4467:Pon2	UTSW	6	5,267,021 (GRCm39)	missense	probably benign	0.24
R4911:Pon2	UTSW	6	5,269,029 (GRCm39)	missense	possibly damaging	0.93
R5237:Pon2	UTSW	6	5,265,455 (GRCm39)	missense	probably benign
R6025:Pon2	UTSW	6	5,289,057 (GRCm39)	missense	probably benign	0.40
R6313:Pon2	UTSW	6	5,272,421 (GRCm39)	missense	probably damaging	1.00
R6737:Pon2	UTSW	6	5,266,183 (GRCm39)	missense	probably benign	0.04
R7427:Pon2	UTSW	6	5,268,995 (GRCm39)	missense	probably damaging	0.99
R7438:Pon2	UTSW	6	5,289,080 (GRCm39)	missense	probably benign
R7517:Pon2	UTSW	6	5,268,997 (GRCm39)	missense	possibly damaging	0.91
R8318:Pon2	UTSW	6	5,265,425 (GRCm39)	missense	probably benign
R8863:Pon2	UTSW	6	5,265,480 (GRCm39)	critical splice acceptor site	probably null
R9154:Pon2	UTSW	6	5,265,391 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CCCCGTGACAGTTTATTCCATTATTAG -3'
(R):5'- CTTTTAAGGCAAAAGGGGTGCG -3'

Sequencing Primer
(F):5'- TCCATTATTAGTGCAAAGGACTTG -3'
(R):5'- GCAAAAGGGGTGCGTTATTATTATC -3'

Posted On

2020-06-30