Incidental Mutation 'IGL03168:Pon3'
ID |
411733 |
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)
|
Stock # |
IGL03168
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
5220852-5256286 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 5256177 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 17
(I17K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118137
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031773]
[ENSMUST00000125686]
[ENSMUST00000129344]
|
AlphaFold |
Q62087 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031773
AA Change: I17K
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000031773 Gene: ENSMUSG00000029759 AA Change: I17K
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 |
possibly damaging
Transcript: ENSMUST00000129344
AA Change: I17K
PolyPhen 2
Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000118137 Gene: ENSMUSG00000029759 AA Change: I17K
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 |
0.1795 |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c6 |
T |
C |
13: 4,486,280 (GRCm39) |
V29A |
probably benign |
Het |
Ankk1 |
C |
A |
9: 49,327,068 (GRCm39) |
A704S |
possibly damaging |
Het |
Aph1c |
G |
A |
9: 66,740,619 (GRCm39) |
|
probably benign |
Het |
Arglu1 |
T |
A |
8: 8,733,960 (GRCm39) |
I119L |
probably benign |
Het |
Brwd1 |
A |
T |
16: 95,818,877 (GRCm39) |
S1318R |
possibly damaging |
Het |
Calhm4 |
C |
T |
10: 33,917,552 (GRCm39) |
V300I |
probably benign |
Het |
Chd3 |
A |
G |
11: 69,239,741 (GRCm39) |
|
probably benign |
Het |
Colq |
T |
C |
14: 31,246,377 (GRCm39) |
Y445C |
probably damaging |
Het |
Cyp2a4 |
A |
T |
7: 26,012,975 (GRCm39) |
|
probably benign |
Het |
Cyp2j7 |
C |
T |
4: 96,118,274 (GRCm39) |
M106I |
probably benign |
Het |
Erfe |
T |
G |
1: 91,299,164 (GRCm39) |
N302K |
probably damaging |
Het |
Fggy |
A |
T |
4: 95,815,046 (GRCm39) |
|
probably benign |
Het |
Gata3 |
A |
G |
2: 9,873,625 (GRCm39) |
Y290H |
probably damaging |
Het |
Grik4 |
T |
C |
9: 42,582,539 (GRCm39) |
T136A |
probably damaging |
Het |
Hc |
G |
T |
2: 34,914,210 (GRCm39) |
N832K |
probably benign |
Het |
Jhy |
A |
T |
9: 40,828,848 (GRCm39) |
S353T |
possibly damaging |
Het |
Krt40 |
T |
A |
11: 99,433,854 (GRCm39) |
Q44L |
possibly damaging |
Het |
Ksr2 |
T |
C |
5: 117,886,846 (GRCm39) |
F794S |
probably damaging |
Het |
Or2l13 |
A |
T |
16: 19,305,969 (GRCm39) |
H127L |
probably benign |
Het |
Or2n1e |
A |
C |
17: 38,585,682 (GRCm39) |
S7R |
probably damaging |
Het |
Or4p7 |
A |
G |
2: 88,221,938 (GRCm39) |
M116V |
probably damaging |
Het |
Or5ac16 |
A |
G |
16: 59,022,610 (GRCm39) |
Y60H |
probably damaging |
Het |
Or5t9 |
A |
G |
2: 86,659,607 (GRCm39) |
I170M |
possibly damaging |
Het |
Or8b1c |
A |
G |
9: 38,384,315 (GRCm39) |
T91A |
probably benign |
Het |
Pcdhb17 |
A |
G |
18: 37,618,825 (GRCm39) |
E205G |
probably benign |
Het |
Prkd2 |
A |
G |
7: 16,584,188 (GRCm39) |
D347G |
possibly damaging |
Het |
Prkdc |
A |
G |
16: 15,652,030 (GRCm39) |
I3806V |
probably benign |
Het |
Qpct |
C |
A |
17: 79,359,753 (GRCm39) |
A20E |
unknown |
Het |
Rap1a |
A |
G |
3: 105,657,587 (GRCm39) |
S11P |
probably damaging |
Het |
Rnf145 |
C |
A |
11: 44,445,985 (GRCm39) |
T273K |
probably damaging |
Het |
Speg |
T |
C |
1: 75,364,831 (GRCm39) |
I298T |
probably damaging |
Het |
Syt6 |
G |
A |
3: 103,494,943 (GRCm39) |
V303M |
probably damaging |
Het |
Tpr |
A |
G |
1: 150,284,508 (GRCm39) |
I324M |
probably benign |
Het |
Uggt2 |
A |
G |
14: 119,315,080 (GRCm39) |
F330L |
probably damaging |
Het |
Unc45a |
A |
T |
7: 79,982,881 (GRCm39) |
L348Q |
probably damaging |
Het |
Vmn1r17 |
T |
A |
6: 57,337,583 (GRCm39) |
I212F |
probably benign |
Het |
Vmn2r68 |
A |
C |
7: 84,870,972 (GRCm39) |
N770K |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,673,132 (GRCm39) |
V1394A |
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 |
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 |
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 |
2016-08-02 |