Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02601:Pon3'

300098

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pon3

Ensembl Gene

ENSMUSG00000029759

Gene Name

paraoxonase 3

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02601

Quality Score

Status

Chromosome

Chromosomal Location

5220852-5256286 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5221671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 320 (Y320H)

Ref Sequence

ENSEMBL: ENSMUSP00000031773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031773] [ENSMUST00000129344]

AlphaFold

Q62087

Predicted Effect

probably damaging
Transcript: ENSMUST00000031773
AA Change: Y320H

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

SMART Domains

Protein: ENSMUSP00000031773
Gene: ENSMUSG00000029759
AA Change: Y320H

Domain	Start	End	E-Value	Type
Pfam:SGL	84	304	8.8e-9	PFAM
Pfam:Arylesterase	167	252	2.5e-43	PFAM
Pfam:Str_synth	184	250	3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129344

SMART Domains

Protein: ENSMUSP00000118137
Gene: ENSMUSG00000029759

Domain	Start	End	E-Value	Type
PDB:4HHQ\|A	1	67	3e-17	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203092

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the paraoxonase family and lies in a cluster on chromosome 7 with the other two family members. The encoded protein is secreted into the bloodstream and associates with high-density lipoprotein (HDL). The protein also rapidly hydrolyzes lactones and can inhibit the oxidation of low-density lipoprotein (LDL), a function that is believed to slow the initiation and progression of atherosclerosis. Alternatively spliced variants which encode different protein isoforms have been described; however, only one has been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show prenatal and postnatal lethality. Homozygotes for a different null allele are viable but show altered lipid and bile acid metabolism, impaired mitochondrial respiration, and increased susceptibility to diet-induced atherosclerosis, gallstone formation, and obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap1	C	T	5: 139,293,541 (GRCm39)	V57M	probably damaging	Het
Agap3	A	G	5: 24,688,369 (GRCm39)	K23E	possibly damaging	Het
Anln	A	T	9: 22,249,331 (GRCm39)	I132K	probably damaging	Het
Anxa4	T	C	6: 86,737,683 (GRCm39)	T13A	probably benign	Het
Bdp1	A	T	13: 100,235,022 (GRCm39)	Y191N	possibly damaging	Het
Carm1	G	A	9: 21,498,204 (GRCm39)	V403M	probably damaging	Het
Cbx7	A	G	15: 79,807,671 (GRCm39)		probably null	Het
Chd8	A	C	14: 52,451,757 (GRCm39)	N16K	possibly damaging	Het
Crtc3	A	T	7: 80,242,315 (GRCm39)	D499E	probably damaging	Het
Cul3	A	G	1: 80,249,432 (GRCm39)		probably benign	Het
D430041D05Rik	T	C	2: 104,060,631 (GRCm39)	D1421G	probably damaging	Het
Fgb	T	A	3: 82,952,367 (GRCm39)	E167D	probably benign	Het
Gimap6	T	A	6: 48,679,409 (GRCm39)	Q209L	probably damaging	Het
Gm3604	G	A	13: 62,517,990 (GRCm39)	H123Y	possibly damaging	Het
Gm5884	A	T	6: 128,622,749 (GRCm39)		noncoding transcript	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Obox3	T	C	7: 15,360,848 (GRCm39)	E97G	probably damaging	Het
Obsl1	T	C	1: 75,466,264 (GRCm39)	H1488R	probably benign	Het
Or4e1	A	T	14: 52,700,802 (GRCm39)	Y221*	probably null	Het
Or6c75	A	G	10: 129,337,723 (GRCm39)	*323W	probably null	Het
Pak5	T	A	2: 135,958,855 (GRCm39)	K78*	probably null	Het
Paqr9	A	G	9: 95,442,877 (GRCm39)	N289S	probably damaging	Het
Pde3b	G	A	7: 114,122,577 (GRCm39)	R715H	probably damaging	Het
Pglyrp2	T	C	17: 32,634,835 (GRCm39)	H509R	probably benign	Het
Pik3ap1	A	C	19: 41,290,881 (GRCm39)	N550K	probably benign	Het
Ptprt	T	A	2: 161,608,227 (GRCm39)	T690S	probably benign	Het
Ptprz1	T	A	6: 23,000,686 (GRCm39)	D925E	probably benign	Het
Rag1	T	C	2: 101,473,018 (GRCm39)	D708G	probably damaging	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Rbmy1b	A	G	Y: 3,774,885 (GRCm39)	I27M	probably benign	Het
Rfx2	G	A	17: 57,092,354 (GRCm39)	H315Y	possibly damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Sis	T	C	3: 72,820,543 (GRCm39)	N1407S	probably benign	Het
Slco1c1	T	A	6: 141,490,555 (GRCm39)	L261Q	probably damaging	Het
Sox30	T	G	11: 45,875,589 (GRCm39)	L447R	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Ssu72	A	G	4: 155,789,882 (GRCm39)	N15S	possibly damaging	Het
Stat4	C	T	1: 52,137,574 (GRCm39)	S455F	probably damaging	Het
Stk4	T	A	2: 163,928,462 (GRCm39)	L97Q	probably damaging	Het
Sulf1	A	T	1: 12,856,869 (GRCm39)	N40I	probably damaging	Het
Sympk	G	A	7: 18,782,794 (GRCm39)	V877I	probably benign	Het
Taar7b	A	T	10: 23,876,204 (GRCm39)	H123L	probably damaging	Het
Teddm1b	A	G	1: 153,750,362 (GRCm39)	Y57C	probably damaging	Het
Tep1	A	T	14: 51,070,935 (GRCm39)	C2121*	probably null	Het
Tnfsf11	T	A	14: 78,537,385 (GRCm39)	R93*	probably null	Het
Tspan12	A	C	6: 21,835,378 (GRCm39)		probably benign	Het
Tyrp1	A	G	4: 80,759,012 (GRCm39)	E295G	probably null	Het
Vps4a	T	C	8: 107,769,693 (GRCm39)	I334T	probably damaging	Het
Zfhx3	T	C	8: 109,583,462 (GRCm39)	S1110P	probably damaging	Het
Zfp507	A	G	7: 35,491,136 (GRCm39)	S716P	probably damaging	Het

Other mutations in Pon3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01977:Pon3	APN	6	5,221,670 (GRCm39)	missense	probably damaging	1.00
IGL01983:Pon3	APN	6	5,240,974 (GRCm39)	missense	probably damaging	1.00
IGL02661:Pon3	APN	6	5,256,205 (GRCm39)	missense	probably benign	0.05
IGL03168:Pon3	APN	6	5,256,177 (GRCm39)	missense	possibly damaging	0.54
IGL02988:Pon3	UTSW	6	5,232,330 (GRCm39)	missense	possibly damaging	0.91
R0242:Pon3	UTSW	6	5,240,860 (GRCm39)	missense	probably benign	0.25
R0242:Pon3	UTSW	6	5,240,860 (GRCm39)	missense	probably benign	0.25
R0566:Pon3	UTSW	6	5,232,408 (GRCm39)	missense	possibly damaging	0.89
R0730:Pon3	UTSW	6	5,230,444 (GRCm39)	missense	probably benign	0.18
R1378:Pon3	UTSW	6	5,230,813 (GRCm39)	missense	probably benign	0.08
R1955:Pon3	UTSW	6	5,230,774 (GRCm39)	missense	probably benign	0.02
R2697:Pon3	UTSW	6	5,232,429 (GRCm39)	missense	possibly damaging	0.67
R2975:Pon3	UTSW	6	5,232,345 (GRCm39)	missense	probably damaging	1.00
R3794:Pon3	UTSW	6	5,221,578 (GRCm39)	missense	probably benign	0.22
R4940:Pon3	UTSW	6	5,221,625 (GRCm39)	missense	possibly damaging	0.75
R4988:Pon3	UTSW	6	5,254,582 (GRCm39)	nonsense	probably null
R4990:Pon3	UTSW	6	5,221,619 (GRCm39)	missense	probably benign
R5266:Pon3	UTSW	6	5,240,860 (GRCm39)	missense	possibly damaging	0.66
R5473:Pon3	UTSW	6	5,256,177 (GRCm39)	missense	possibly damaging	0.54
R6152:Pon3	UTSW	6	5,221,716 (GRCm39)	missense	probably damaging	1.00
R6746:Pon3	UTSW	6	5,230,786 (GRCm39)	missense	possibly damaging	0.54
R7140:Pon3	UTSW	6	5,221,664 (GRCm39)	missense	possibly damaging	0.92
R7450:Pon3	UTSW	6	5,236,940 (GRCm39)	missense	possibly damaging	0.80
R7853:Pon3	UTSW	6	5,236,911 (GRCm39)	missense	probably damaging	1.00
R8481:Pon3	UTSW	6	5,221,715 (GRCm39)	missense	probably benign	0.23
R9200:Pon3	UTSW	6	5,240,863 (GRCm39)	missense	probably benign	0.42
R9344:Pon3	UTSW	6	5,221,586 (GRCm39)	missense	probably benign	0.03
R9736:Pon3	UTSW	6	5,232,339 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16