Mutagenetix > Incidental Mutation

Incidental Mutation 'R6313:Pon2'

510514

Institutional Source

Beutler Lab

Gene Symbol

Pon2

Ensembl Gene

ENSMUSG00000032667

Gene Name

paraoxonase 2

Synonyms

6330405I24Rik

MMRRC Submission

044470-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6313 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5264620-5298408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5272421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 133 (H133L)

Ref Sequence

ENSEMBL: ENSMUSP00000062670 (fasta)

Gene Model

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

AlphaFold

Q62086

Predicted Effect

probably damaging
Transcript: ENSMUST00000057792
AA Change: H133L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062670
Gene: ENSMUSG00000032667
AA Change: H133L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135342

Meta Mutation Damage Score

0.8703

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,126,344 (GRCm39)	F1167L	probably damaging	Het
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
Acaca	C	T	11: 84,183,755 (GRCm39)	T32I	probably benign	Het
Adam6a	A	T	12: 113,508,670 (GRCm39)	N348Y	possibly damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arhgef38	T	C	3: 132,940,469 (GRCm39)	D39G	possibly damaging	Het
Arid5b	T	C	10: 67,933,412 (GRCm39)	D587G	possibly damaging	Het
Brwd1	A	G	16: 95,809,141 (GRCm39)	V1963A	probably benign	Het
Ccdc136	T	A	6: 29,410,204 (GRCm39)	L34Q	probably damaging	Het
Cdh2	T	C	18: 16,907,579 (GRCm39)	Q53R	probably benign	Het
Celsr2	G	A	3: 108,308,530 (GRCm39)	S1799L	probably damaging	Het
Cenpe	A	G	3: 134,935,936 (GRCm39)	E457G	probably benign	Het
Cmtm1	A	T	8: 105,031,795 (GRCm39)	M283K	possibly damaging	Het
Dcdc5	T	C	2: 106,198,516 (GRCm39)		noncoding transcript	Het
Decr1	T	A	4: 15,924,261 (GRCm39)	M220L	probably benign	Het
Dgkg	T	G	16: 22,338,311 (GRCm39)	D592A	probably damaging	Het
Dkkl1	T	C	7: 44,860,862 (GRCm39)	Q39R	probably benign	Het
Dyrk1a	T	A	16: 94,460,373 (GRCm39)	C10S	possibly damaging	Het
Efcab2	A	T	1: 178,308,936 (GRCm39)	E146D	probably benign	Het
Efhc1	T	C	1: 21,049,652 (GRCm39)	V504A	possibly damaging	Het
Ermard	T	G	17: 15,273,467 (GRCm39)		probably null	Het
Espl1	T	C	15: 102,224,247 (GRCm39)	V1266A	probably benign	Het
Fbxw22	A	C	9: 109,232,465 (GRCm39)	V40G	probably damaging	Het
Gm3629	A	T	14: 17,834,409 (GRCm39)	I194N	possibly damaging	Het
Gnai2	C	T	9: 107,497,296 (GRCm39)	V33M	possibly damaging	Het
H2-DMb1	T	C	17: 34,376,506 (GRCm39)		probably null	Het
Hc	T	C	2: 34,879,851 (GRCm39)		probably null	Het
Iars1	T	C	13: 49,861,921 (GRCm39)	S491P	probably damaging	Het
Knl1	T	A	2: 118,899,799 (GRCm39)	L500H	probably damaging	Het
Lamb1	A	T	12: 31,319,146 (GRCm39)	T102S	probably damaging	Het
Lrrc7	A	G	3: 157,866,373 (GRCm39)	S1123P	probably damaging	Het
Mettl5	C	A	2: 69,702,071 (GRCm39)		probably null	Het
Mmp11	A	G	10: 75,759,818 (GRCm39)	*4R	probably null	Het
Myom1	A	T	17: 71,389,483 (GRCm39)	D911V	probably benign	Het
Nid1	A	G	13: 13,638,367 (GRCm39)	T96A	probably benign	Het
Nlrp4e	G	T	7: 23,052,597 (GRCm39)	V839L	probably benign	Het
Notch3	A	T	17: 32,370,128 (GRCm39)		probably null	Het
Or8k35	T	C	2: 86,424,411 (GRCm39)	T254A	possibly damaging	Het
Pcdh8	T	C	14: 80,005,091 (GRCm39)	H978R	probably benign	Het
Pde8b	A	T	13: 95,178,508 (GRCm39)	C537*	probably null	Het
Polr1b	T	C	2: 128,967,366 (GRCm39)	F920L	probably damaging	Het
Polr2f	A	G	15: 79,035,573 (GRCm39)	T87A	probably damaging	Het
Pou2af2	C	T	9: 51,201,481 (GRCm39)	D192N	probably damaging	Het
Ptk2b	T	A	14: 66,416,280 (GRCm39)	E205V	probably damaging	Het
Rb1cc1	T	A	1: 6,314,357 (GRCm39)	M343K	probably benign	Het
Rlf	G	A	4: 121,005,807 (GRCm39)	R1058W	probably damaging	Het
S100z	T	A	13: 95,615,082 (GRCm39)	K28*	probably null	Het
Scarf1	T	A	11: 75,411,141 (GRCm39)	N273K	probably benign	Het
Setd2	A	G	9: 110,385,434 (GRCm39)	I136M	unknown	Het
Sfrp2	A	G	3: 83,674,291 (GRCm39)	D148G	probably benign	Het
Slc24a4	A	G	12: 102,220,769 (GRCm39)	E400G	probably benign	Het
Slc2a9	T	G	5: 38,610,464 (GRCm39)	I112L	probably benign	Het
Smc5	A	T	19: 23,186,312 (GRCm39)	Y972*	probably null	Het
Sntg1	T	C	1: 8,515,248 (GRCm39)		probably null	Het
Spata31h1	T	C	10: 82,129,470 (GRCm39)	N1180S	probably benign	Het
Stag1	A	G	9: 100,639,786 (GRCm39)	D114G	probably damaging	Het
Suclg1	T	C	6: 73,233,192 (GRCm39)	S46P	probably damaging	Het
Synj1	C	T	16: 90,743,703 (GRCm39)	A1186T	probably benign	Het
Tas2r124	A	G	6: 132,732,410 (GRCm39)	T240A	probably benign	Het
Tax1bp1	T	C	6: 52,721,341 (GRCm39)		probably null	Het
Tchh	C	A	3: 93,355,158 (GRCm39)	Q1533K	unknown	Het
Tmprss15	T	C	16: 78,759,058 (GRCm39)	T887A	probably benign	Het
Ttn	T	C	2: 76,536,937 (GRCm39)	I34963V	probably benign	Het
Unc79	G	A	12: 103,078,878 (GRCm39)	G1485D	probably damaging	Het
Usp9y	G	T	Y: 1,385,355 (GRCm39)	H633N	probably benign	Homo
Vmn2r99	A	T	17: 19,602,867 (GRCm39)	N541Y	probably damaging	Het
Zbtb11	T	A	16: 55,810,854 (GRCm39)	N337K	probably benign	Het
Zfp260	T	A	7: 29,804,267 (GRCm39)	C56S	possibly damaging	Het
Zfp457	C	T	13: 67,440,746 (GRCm39)	E610K	probably 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
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'- TGTGAGACCATGGAGAAACCC -3'
(R):5'- GCACTAACACTGGGTCAATGG -3'

Sequencing Primer
(F):5'- TGGAGAAACCCAGAGACCTTTATC -3'
(R):5'- CACTAACACTGGGTCAATGGTAATG -3'

Posted On

2018-04-02