Mutagenetix > Incidental Mutation

Incidental Mutation 'R7140:Pon3'

553393

Institutional Source

Beutler Lab

Gene Symbol

Pon3

Ensembl Gene

ENSMUSG00000029759

Gene Name

paraoxonase 3

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5220852-5256286 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5221664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 322 (N322S)

Ref Sequence

ENSEMBL: ENSMUSP00000031773 (fasta)

Gene Model

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

AlphaFold

Q62087

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031773
AA Change: N322S

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031773
Gene: ENSMUSG00000029759
AA Change: N322S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	T	C	8: 27,610,929 (GRCm39)		probably null	Het
Ap2a2	G	A	7: 141,178,777 (GRCm39)	A148T	probably benign	Het
Arhgef3	A	T	14: 27,123,664 (GRCm39)	N442Y	probably damaging	Het
B3gat3	A	G	19: 8,903,216 (GRCm39)	Y191C	probably damaging	Het
B430306N03Rik	A	T	17: 48,629,483 (GRCm39)	K203*	probably null	Het
C1qtnf6	T	A	15: 78,409,283 (GRCm39)	Y188F	probably benign	Het
Capn10	T	C	1: 92,872,993 (GRCm39)	V573A	possibly damaging	Het
Cbx4	T	C	11: 118,972,754 (GRCm39)	Y207C	probably damaging	Het
Ccdc43	G	T	11: 102,579,695 (GRCm39)		probably null	Het
Ccng2	C	A	5: 93,416,614 (GRCm39)	P45Q	probably benign	Het
Cd86	T	C	16: 36,441,263 (GRCm39)	H68R	probably benign	Het
Cmtm4	A	G	8: 105,081,827 (GRCm39)	Y187H	probably damaging	Het
Cst11	T	C	2: 148,610,649 (GRCm39)	N134S	probably benign	Het
Cyp3a25	A	T	5: 145,939,855 (GRCm39)	F51I	probably benign	Het
Dnhd1	A	G	7: 105,342,973 (GRCm39)	E1439G	probably benign	Het
Dock4	T	C	12: 40,686,158 (GRCm39)	V131A	probably benign	Het
Dpysl2	A	G	14: 67,099,982 (GRCm39)	S85P	probably benign	Het
Dync1i2	A	G	2: 71,078,283 (GRCm39)	H324R	probably benign	Het
Elf1	A	G	14: 79,804,710 (GRCm39)	D162G	probably benign	Het
Eri3	G	A	4: 117,506,604 (GRCm39)		probably null	Het
Fbxl21	T	C	13: 56,680,145 (GRCm39)	S203P	probably damaging	Het
Foxi1	G	A	11: 34,155,758 (GRCm39)	R291C	probably damaging	Het
Gprin3	C	T	6: 59,332,128 (GRCm39)	A60T	possibly damaging	Het
Hecw1	A	G	13: 14,491,118 (GRCm39)	C212R	probably benign	Het
Hivep3	T	C	4: 119,954,318 (GRCm39)	L878P	probably damaging	Het
Hs6st3	A	T	14: 119,376,514 (GRCm39)	N230Y	probably damaging	Het
Htr3b	A	G	9: 48,848,441 (GRCm39)	V268A	possibly damaging	Het
Ip6k3	T	C	17: 27,363,969 (GRCm39)	T360A	probably damaging	Het
Izumo1	A	G	7: 45,275,536 (GRCm39)	T282A	probably benign	Het
Kidins220	T	A	12: 25,086,623 (GRCm39)	I1019N	probably damaging	Het
Med13l	T	C	5: 118,880,037 (GRCm39)	V1043A	probably benign	Het
Mon2	C	T	10: 122,871,358 (GRCm39)	V420I	probably benign	Het
Naip6	T	A	13: 100,436,708 (GRCm39)	Y605F	possibly damaging	Het
Nek7	A	G	1: 138,414,793 (GRCm39)	I285T	probably benign	Het
Notch3	A	G	17: 32,375,351 (GRCm39)	V357A	possibly damaging	Het
Nrxn1	G	A	17: 91,396,192 (GRCm39)		probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or2w4	C	T	13: 21,795,297 (GRCm39)	V281M	possibly damaging	Het
Or4a67	G	A	2: 88,598,308 (GRCm39)	A117V	probably damaging	Het
Or5g9	T	A	2: 85,551,818 (GRCm39)	L23Q	probably damaging	Het
Or6c74	T	G	10: 129,870,083 (GRCm39)	M196R	possibly damaging	Het
Ostm1	C	T	10: 42,559,268 (GRCm39)	A176V	probably null	Het
Pabpc6	C	A	17: 9,887,357 (GRCm39)	S398I	possibly damaging	Het
Pcdhac2	C	A	18: 37,277,239 (GRCm39)	P73H	possibly damaging	Het
Pcdhga9	A	G	18: 37,872,184 (GRCm39)	D671G	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pigu	A	C	2: 155,143,160 (GRCm39)	L248R	possibly damaging	Het
Pinx1	C	A	14: 64,097,834 (GRCm39)		probably null	Het
Pramel23	T	G	4: 143,425,002 (GRCm39)	H147P	probably benign	Het
Rnft1	A	G	11: 86,382,586 (GRCm39)	I270V	probably benign	Het
Scgb2b11	A	G	7: 31,910,006 (GRCm39)	F27L	probably damaging	Het
Slc5a4b	C	T	10: 75,910,943 (GRCm39)	V298I	probably damaging	Het
Slco1a6	T	A	6: 142,048,745 (GRCm39)	H345L	probably benign	Het
Sox1	C	T	8: 12,447,405 (GRCm39)	P349S	possibly damaging	Het
Spata31	A	G	13: 65,068,913 (GRCm39)	N354D	probably benign	Het
Speg	T	C	1: 75,383,414 (GRCm39)		probably null	Het
Stpg1	T	C	4: 135,261,033 (GRCm39)	I281T	probably benign	Het
Sult3a1	T	C	10: 33,753,283 (GRCm39)	L193P	probably damaging	Het
Tenm3	A	T	8: 48,745,271 (GRCm39)	C1097S	probably damaging	Het
Tfap2a	A	G	13: 40,883,523 (GRCm39)	S7P	probably benign	Het
Tlr1	T	C	5: 65,083,021 (GRCm39)	I519V	probably benign	Het
Tmem238	A	G	7: 4,792,072 (GRCm39)	V157A	possibly damaging	Het
Tmem45b	A	T	9: 31,345,780 (GRCm39)		probably null	Het
Togaram2	A	T	17: 72,021,761 (GRCm39)	H742L	probably benign	Het
Trpc7	A	T	13: 56,937,487 (GRCm39)	Y656*	probably null	Het
Wdr35	T	A	12: 9,072,785 (GRCm39)	Y920N	probably damaging	Het
Xab2	G	A	8: 3,668,117 (GRCm39)	R154C	possibly damaging	Het
Zfp759	A	T	13: 67,288,177 (GRCm39)	H576L	possibly damaging	Het
Zfp958	G	T	8: 4,678,481 (GRCm39)	A169S	probably benign	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
R6746:Pon3	UTSW	6	5,230,786 (GRCm39)	missense	possibly damaging	0.54
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'- CTGGTTGCCACTCACTAACTTG -3'
(R):5'- AGTACCTTTCAGATGTACTTCAGC -3'

Sequencing Primer
(F):5'- GCCACTCACTAACTTGATTCTTG -3'
(R):5'- ACCTTTCAGATGTACTTCAGCTTTAG -3'

Posted On

2019-05-15