Mutagenetix > Incidental Mutation

Incidental Mutation 'R6746:Pon3'

532826

Institutional Source

Beutler Lab

Gene Symbol

Pon3

Ensembl Gene

ENSMUSG00000029759

Gene Name

paraoxonase 3

Synonyms

MMRRC Submission

044863-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6746 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5220852-5256286 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5230786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 247 (M247K)

Ref Sequence

ENSEMBL: ENSMUSP00000031773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031773] [ENSMUST00000125686] [ENSMUST00000129344]

AlphaFold

Q62087

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031773
AA Change: M247K

PolyPhen 2 Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031773
Gene: ENSMUSG00000029759
AA Change: M247K

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: ENSMUST00000125686

SMART Domains

Protein: ENSMUSP00000135603
Gene: ENSMUSG00000029759

Domain	Start	End	E-Value	Type
Pfam:Arylesterase	94	135	9.1e-20	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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,565,195 (GRCm39)	L79*	probably null	Het
Acot3	A	G	12: 84,100,248 (GRCm39)	N8S	probably benign	Het
Adora2a	T	C	10: 75,169,442 (GRCm39)	V302A	probably benign	Het
Anpep	A	C	7: 79,488,933 (GRCm39)		probably null	Het
Arrb1	A	G	7: 99,250,357 (GRCm39)	K392E	probably benign	Het
Atp8a1	A	T	5: 67,908,392 (GRCm39)	N444K	probably benign	Het
Bltp3b	T	A	10: 89,623,020 (GRCm39)	N298K	probably benign	Het
Brinp2	C	T	1: 158,094,160 (GRCm39)	G181R	probably benign	Het
Cacna1g	A	T	11: 94,300,253 (GRCm39)	C2184*	probably null	Het
Cacna1h	C	T	17: 25,600,524 (GRCm39)	A1606T	probably damaging	Het
Ccdc30	T	C	4: 119,213,915 (GRCm39)	T205A	probably benign	Het
Celsr1	A	G	15: 85,915,696 (GRCm39)	I759T	probably damaging	Het
Chaf1a	A	G	17: 56,370,404 (GRCm39)	D623G	possibly damaging	Het
Col6a3	G	T	1: 90,706,767 (GRCm39)	N2115K	unknown	Het
Dync1h1	A	T	12: 110,618,087 (GRCm39)	T3209S	probably damaging	Het
Erich6	T	C	3: 58,523,987 (GRCm39)	D629G	possibly damaging	Het
Fahd1	G	T	17: 25,068,915 (GRCm39)	A54E	probably damaging	Het
Flrt3	C	T	2: 140,501,945 (GRCm39)	R561Q	probably damaging	Het
Grm6	A	T	11: 50,747,790 (GRCm39)	D334V	probably damaging	Het
Helb	A	T	10: 119,941,373 (GRCm39)	D438E	probably damaging	Het
Hmgcs1	T	C	13: 120,156,585 (GRCm39)		probably null	Het
Hnf4g	C	A	3: 3,722,170 (GRCm39)	Y441*	probably null	Het
Hspa13	A	T	16: 75,561,925 (GRCm39)	N91K	possibly damaging	Het
Ilvbl	T	C	10: 78,413,057 (GRCm39)	I193T	possibly damaging	Het
Itga7	T	C	10: 128,785,341 (GRCm39)	V848A	probably benign	Het
Kash5	C	T	7: 44,849,735 (GRCm39)	V63I	probably benign	Het
Lpin1	A	G	12: 16,615,529 (GRCm39)	M341T	probably benign	Het
Lypd5	G	T	7: 24,052,531 (GRCm39)		probably null	Het
Mrgprb1	A	C	7: 48,097,645 (GRCm39)	V89G	possibly damaging	Het
Nsun7	T	C	5: 66,441,080 (GRCm39)		probably null	Het
Oasl1	T	A	5: 115,075,242 (GRCm39)	V434E	probably damaging	Het
Or2ak6	G	A	11: 58,593,369 (GRCm39)	V281I	probably benign	Het
Or7g22	A	G	9: 19,048,774 (GRCm39)	M162V	probably benign	Het
Or8k16	T	C	2: 85,519,952 (GRCm39)	Y60H	probably damaging	Het
Otor	T	A	2: 142,921,955 (GRCm39)		probably null	Het
Pik3cg	G	A	12: 32,244,757 (GRCm39)	T899M	probably damaging	Het
Plaat5	A	G	19: 7,590,695 (GRCm39)	D74G	probably benign	Het
Pld2	C	A	11: 70,431,933 (GRCm39)	L52M	probably damaging	Het
Ppfia2	C	A	10: 106,742,319 (GRCm39)	Y1037*	probably null	Het
Ppm1m	A	T	9: 106,075,351 (GRCm39)	C99*	probably null	Het
Prss44	A	T	9: 110,644,361 (GRCm39)	*145C	probably null	Het
Ptpro	T	A	6: 137,371,821 (GRCm39)	Y613N	probably damaging	Het
Ralgapb	T	G	2: 158,318,056 (GRCm39)	V866G	probably damaging	Het
Rassf6	C	A	5: 90,757,633 (GRCm39)	R109L	possibly damaging	Het
Rbm4b	A	C	19: 4,812,031 (GRCm39)	T147P	probably benign	Het
Rpl7l1	T	C	17: 47,090,322 (GRCm39)	K104R	probably benign	Het
Ryr1	A	T	7: 28,816,829 (GRCm39)	I69N	possibly damaging	Het
Scd1	G	T	19: 44,394,927 (GRCm39)	F99L	probably benign	Het
Semp2l1	A	T	1: 32,585,844 (GRCm39)	I22N	probably benign	Het
Spint2	A	T	7: 28,958,848 (GRCm39)	S66T	probably benign	Het
Tarm1	T	A	7: 3,550,978 (GRCm39)	I2F	probably benign	Het
Tenm4	T	C	7: 96,542,067 (GRCm39)	V1860A	probably damaging	Het
Usp38	A	G	8: 81,740,920 (GRCm39)	I49T	possibly damaging	Het
Vars2	A	G	17: 35,971,294 (GRCm39)		probably null	Het
Vmn2r27	T	G	6: 124,177,552 (GRCm39)	H484P	possibly damaging	Het
Wdr35	T	A	12: 9,053,982 (GRCm39)		probably null	Het
Zfp937	A	T	2: 150,081,343 (GRCm39)	K458*	probably null	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
IGL02601:Pon3	APN	6	5,221,671 (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
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

Predicted Primers

PCR Primer
(F):5'- GCACTAGCATTTCTAGGGGC -3'
(R):5'- TGGTCACATTTCACATCAGATGC -3'

Sequencing Primer
(F):5'- GCTTGGTGATAGCCCTCTAAAAG -3'
(R):5'- TTTCACATCAGATGCCTATAAAACC -3'

Posted On

2018-08-29