Incidental Mutation 'R4988:Pon3'
ID |
444510 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pon3
|
Ensembl Gene |
ENSMUSG00000029759 |
Gene Name |
paraoxonase 3 |
Synonyms |
|
MMRRC Submission |
042582-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4988 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
5220852-5256286 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 5254582 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 27
(R27*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118137
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031773]
[ENSMUST00000125686]
[ENSMUST00000129344]
|
AlphaFold |
Q62087 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031773
AA Change: R27*
|
SMART Domains |
Protein: ENSMUSP00000031773 Gene: ENSMUSG00000029759 AA Change: R27*
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 null
Transcript: ENSMUST00000129344
AA Change: R27*
|
SMART Domains |
Protein: ENSMUSP00000118137 Gene: ENSMUSG00000029759 AA Change: R27*
Domain | Start | End | E-Value | Type |
PDB:4HHQ|A
|
1 |
67 |
3e-17 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156848
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176039
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176948
|
SMART Domains |
Protein: ENSMUSP00000135554 Gene: ENSMUSG00000029759
Domain | Start | End | E-Value | Type |
PDB:3SRG|A
|
3 |
90 |
1e-33 |
PDB |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
G |
A |
1: 130,670,447 (GRCm39) |
G223E |
probably damaging |
Het |
Abcb11 |
T |
C |
2: 69,154,236 (GRCm39) |
N110S |
probably benign |
Het |
Acaca |
T |
A |
11: 84,154,121 (GRCm39) |
H947Q |
probably damaging |
Het |
Akap13 |
T |
C |
7: 75,380,276 (GRCm39) |
M2202T |
probably damaging |
Het |
Amy2b |
T |
C |
3: 113,058,550 (GRCm39) |
|
noncoding transcript |
Het |
Arhgef4 |
A |
T |
1: 34,762,535 (GRCm39) |
H597L |
unknown |
Het |
Asgr2 |
A |
G |
11: 69,988,665 (GRCm39) |
I119M |
probably benign |
Het |
Casc3 |
T |
G |
11: 98,712,700 (GRCm39) |
|
probably null |
Het |
Cbr1b |
A |
G |
16: 93,426,884 (GRCm39) |
T162A |
probably benign |
Het |
Ccdc7b |
T |
A |
8: 129,872,013 (GRCm39) |
M239K |
possibly damaging |
Het |
Cdc27 |
A |
G |
11: 104,416,950 (GRCm39) |
S334P |
possibly damaging |
Het |
Ces1c |
T |
C |
8: 93,827,336 (GRCm39) |
E476G |
probably damaging |
Het |
Clec3a |
T |
A |
8: 115,144,827 (GRCm39) |
M1K |
probably null |
Het |
Col9a1 |
T |
C |
1: 24,224,273 (GRCm39) |
S152P |
unknown |
Het |
Cpd |
A |
G |
11: 76,705,656 (GRCm39) |
S359P |
probably damaging |
Het |
Ctnnal1 |
A |
T |
4: 56,847,854 (GRCm39) |
L95* |
probably null |
Het |
Dhx57 |
T |
C |
17: 80,558,827 (GRCm39) |
D1044G |
probably damaging |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Efcab5 |
A |
G |
11: 77,028,078 (GRCm39) |
S418P |
probably damaging |
Het |
Elp5 |
T |
C |
11: 69,870,668 (GRCm39) |
D59G |
probably benign |
Het |
Fam210a |
G |
A |
18: 68,409,218 (GRCm39) |
R31C |
probably benign |
Het |
Farp1 |
A |
G |
14: 121,513,019 (GRCm39) |
T792A |
probably damaging |
Het |
Fmc1 |
A |
T |
6: 38,511,917 (GRCm39) |
Y37F |
probably benign |
Het |
Gm10717 |
T |
A |
9: 3,026,368 (GRCm39) |
L72M |
probably benign |
Het |
Gm1758 |
A |
T |
16: 14,320,067 (GRCm39) |
|
noncoding transcript |
Het |
Gm4553 |
G |
A |
7: 141,718,729 (GRCm39) |
|
probably benign |
Het |
Gpr156 |
A |
G |
16: 37,768,577 (GRCm39) |
T33A |
possibly damaging |
Het |
Hhat |
A |
T |
1: 192,339,602 (GRCm39) |
|
probably benign |
Het |
Hint2 |
T |
C |
4: 43,654,953 (GRCm39) |
I59V |
possibly damaging |
Het |
Hps4 |
C |
T |
5: 112,526,019 (GRCm39) |
|
probably benign |
Het |
Hsd17b8 |
A |
G |
17: 34,246,262 (GRCm39) |
F137S |
probably damaging |
Het |
Klrc2 |
A |
T |
6: 129,633,426 (GRCm39) |
C192S |
probably benign |
Het |
Map1a |
C |
T |
2: 121,133,531 (GRCm39) |
T1211I |
probably benign |
Het |
Mtus1 |
T |
C |
8: 41,537,578 (GRCm39) |
N46S |
probably benign |
Het |
Myo18a |
T |
C |
11: 77,736,347 (GRCm39) |
|
probably null |
Het |
Nbas |
T |
C |
12: 13,458,266 (GRCm39) |
S1258P |
probably benign |
Het |
Ndst1 |
C |
T |
18: 60,836,005 (GRCm39) |
G426D |
probably damaging |
Het |
Nepro |
A |
G |
16: 44,554,905 (GRCm39) |
E327G |
possibly damaging |
Het |
Nutm2 |
C |
T |
13: 50,626,379 (GRCm39) |
T322I |
possibly damaging |
Het |
Or10s1 |
G |
A |
9: 39,985,961 (GRCm39) |
M123I |
probably damaging |
Het |
Or1j18 |
T |
C |
2: 36,624,996 (GRCm39) |
I221T |
possibly damaging |
Het |
Or2m13 |
A |
T |
16: 19,225,860 (GRCm39) |
M302K |
probably benign |
Het |
Or6c66 |
T |
C |
10: 129,461,930 (GRCm39) |
|
probably null |
Het |
Pcdhb15 |
G |
A |
18: 37,608,855 (GRCm39) |
A696T |
probably damaging |
Het |
Polm |
C |
A |
11: 5,787,618 (GRCm39) |
R45L |
probably damaging |
Het |
Proser1 |
T |
C |
3: 53,387,046 (GRCm39) |
I845T |
probably damaging |
Het |
Rassf8 |
A |
G |
6: 145,762,870 (GRCm39) |
N406D |
possibly damaging |
Het |
Skint10 |
A |
T |
4: 112,586,069 (GRCm39) |
C182* |
probably null |
Het |
Slc6a19 |
C |
T |
13: 73,833,959 (GRCm39) |
W366* |
probably null |
Het |
St7 |
T |
C |
6: 17,934,225 (GRCm39) |
F470L |
probably damaging |
Het |
St8sia4 |
T |
A |
1: 95,519,522 (GRCm39) |
Y322F |
possibly damaging |
Het |
Trav8n-2 |
A |
T |
14: 53,975,814 (GRCm39) |
|
probably benign |
Het |
Vwa8 |
A |
T |
14: 79,435,723 (GRCm39) |
H1811L |
probably benign |
Het |
Zfp14 |
G |
A |
7: 29,737,482 (GRCm39) |
T501I |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGACTATACATCGGGGTATTCTG -3'
(R):5'- GCACAGTGGTTACGTGAGAC -3'
Sequencing Primer
(F):5'- CTGAAAAAGAATCCTGTTTGTGCGG -3'
(R):5'- CAGTGGTTACGTGAGACATATTATG -3'
|
Posted On |
2016-11-11 |