Mutagenetix > Incidental Mutation

Incidental Mutation 'R4467:Pon2'

329235

Institutional Source

Beutler Lab

Gene Symbol

Pon2

Ensembl Gene

ENSMUSG00000032667

Gene Name

paraoxonase 2

Synonyms

6330405I24Rik

MMRRC Submission

041724-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4467 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5264620-5298408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5267021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 241 (A241T)

Ref Sequence

ENSEMBL: ENSMUSP00000062670 (fasta)

Gene Model

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

AlphaFold

Q62086

Predicted Effect

probably benign
Transcript: ENSMUST00000057792
AA Change: A241T

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000062670
Gene: ENSMUSG00000032667
AA Change: A241T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123838

Meta Mutation Damage Score

0.0972

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

98% (52/53)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 64,056,182 (GRCm39)		probably benign	Het
Atg4a-ps	A	G	3: 103,553,171 (GRCm39)	Y57H	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bms1	G	A	6: 118,360,808 (GRCm39)	T1220I	probably damaging	Het
Brat1	T	C	5: 140,690,826 (GRCm39)		probably benign	Het
Cds2	T	A	2: 132,136,366 (GRCm39)	Y39*	probably null	Het
Chrnd	T	A	1: 87,125,099 (GRCm39)	L384Q	probably damaging	Het
Cpa3	A	T	3: 20,282,981 (GRCm39)	Y155*	probably null	Het
Crlf1	G	A	8: 70,953,606 (GRCm39)	W260*	probably null	Het
Cux1	C	G	5: 136,341,576 (GRCm39)	E605D	probably damaging	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
Dmtf1	T	C	5: 9,186,085 (GRCm39)	N167S	probably damaging	Het
Dnaaf9	A	G	2: 130,609,567 (GRCm39)	I372T	probably damaging	Het
Dnai7	A	T	6: 145,128,944 (GRCm39)		probably null	Het
Dtx2	T	A	5: 136,040,930 (GRCm39)	W112R	probably damaging	Het
Elf3	A	G	1: 135,184,582 (GRCm39)	I138T	probably damaging	Het
F11	T	A	8: 45,694,511 (GRCm39)	I617F	probably damaging	Het
Fdps	A	T	3: 89,008,093 (GRCm39)	D8E	possibly damaging	Het
Fzd10	C	A	5: 128,678,340 (GRCm39)	T20K	probably benign	Het
Gm9978	T	A	10: 78,322,750 (GRCm39)		noncoding transcript	Het
Gpr158	T	A	2: 21,831,810 (GRCm39)	M970K	probably damaging	Het
Has1	C	T	17: 18,064,257 (GRCm39)	V461M	probably benign	Het
Hdac3	C	T	18: 38,085,566 (GRCm39)	G80D	probably benign	Het
Klk12	A	T	7: 43,422,807 (GRCm39)	R245W	probably damaging	Het
Lamp5	A	G	2: 135,900,940 (GRCm39)	I47V	probably damaging	Het
Or6c1b	T	C	10: 129,272,933 (GRCm39)	I84T	probably benign	Het
Ovgp1	A	G	3: 105,885,027 (GRCm39)	D122G	probably benign	Het
Piezo1	T	C	8: 123,213,135 (GRCm39)	E1875G	probably benign	Het
Pih1d1	A	G	7: 44,807,921 (GRCm39)	M132V	possibly damaging	Het
Prkce	A	G	17: 86,927,339 (GRCm39)	I538V	possibly damaging	Het
Rab36	C	T	10: 74,887,875 (GRCm39)	R249*	probably null	Het
Rps6kl1	C	T	12: 85,194,582 (GRCm39)	A110T	probably damaging	Het
Rsad1	T	C	11: 94,435,356 (GRCm39)	T244A	probably benign	Het
Slc22a7	T	C	17: 46,743,436 (GRCm39)	I532V	probably benign	Het
Slc2a7	T	C	4: 150,247,731 (GRCm39)	V377A	possibly damaging	Het
Slx4	A	G	16: 3,806,919 (GRCm39)	V508A	possibly damaging	Het
Stag2	A	G	X: 41,322,749 (GRCm39)	S400G	probably benign	Het
Stat6	T	G	10: 127,487,097 (GRCm39)	I201M	probably damaging	Het
Stim2	T	C	5: 54,273,536 (GRCm39)		probably null	Het
Tbc1d9	A	G	8: 83,937,107 (GRCm39)	Y63C	probably damaging	Het
Tctn2	T	C	5: 124,758,252 (GRCm39)		noncoding transcript	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Ubr5	T	A	15: 38,004,580 (GRCm39)	T1282S	probably damaging	Het
Ufl1	A	T	4: 25,254,806 (GRCm39)	I550N	probably damaging	Het
Uty	A	G	Y: 1,158,372 (GRCm39)	V557A	possibly damaging	Het
Vmn1r54	T	C	6: 90,246,253 (GRCm39)	S56P	probably damaging	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	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
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
R8142:Pon2	UTSW	6	5,266,239 (GRCm39)	missense	probably benign	0.01
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'- GTGACATCTAAGAACACAGACTGGC -3'
(R):5'- ACTCTTGGTTATTTCAGCGGC -3'

Sequencing Primer
(F):5'- CAGACTGGCTGCCTTGTCTG -3'
(R):5'- TCAGCGGCAAATATTATGAACTTC -3'

Posted On

2015-07-21