Incidental Mutation 'IGL01983:Pon3'
ID |
183527 |
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 # |
IGL01983
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
5220852-5256286 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 5240974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 69
(L69S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031773
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031773]
[ENSMUST00000125686]
[ENSMUST00000129344]
|
AlphaFold |
Q62087 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031773
AA Change: L69S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031773 Gene: ENSMUSG00000029759 AA Change: L69S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156848
|
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 |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadl |
G |
A |
1: 66,880,783 (GRCm39) |
Q328* |
probably null |
Het |
Alpk2 |
T |
C |
18: 65,483,753 (GRCm39) |
Y85C |
probably damaging |
Het |
Arhgap31 |
C |
T |
16: 38,422,127 (GRCm39) |
R1313Q |
probably damaging |
Het |
Chrnb1 |
G |
T |
11: 69,686,555 (GRCm39) |
R22S |
probably benign |
Het |
Clec7a |
G |
A |
6: 129,442,539 (GRCm39) |
|
probably benign |
Het |
Cyrib |
A |
G |
15: 63,809,236 (GRCm39) |
S251P |
probably benign |
Het |
Epb41l5 |
A |
G |
1: 119,506,814 (GRCm39) |
|
probably benign |
Het |
Hdac1-ps |
T |
A |
17: 78,800,282 (GRCm39) |
D424E |
probably benign |
Het |
Hydin |
A |
C |
8: 111,241,527 (GRCm39) |
I2106L |
probably benign |
Het |
Igkv3-5 |
T |
A |
6: 70,640,670 (GRCm39) |
D50E |
probably benign |
Het |
Irf2bp1 |
G |
T |
7: 18,739,220 (GRCm39) |
A287S |
possibly damaging |
Het |
Ldb3 |
G |
A |
14: 34,299,156 (GRCm39) |
S156L |
probably benign |
Het |
Lnpep |
A |
T |
17: 17,751,440 (GRCm39) |
W942R |
probably damaging |
Het |
Mst1r |
T |
A |
9: 107,794,475 (GRCm39) |
V1218D |
probably damaging |
Het |
Naxd |
G |
T |
8: 11,560,218 (GRCm39) |
|
probably benign |
Het |
Nol9 |
T |
C |
4: 152,130,494 (GRCm39) |
|
probably null |
Het |
Nus1 |
T |
A |
10: 52,312,753 (GRCm39) |
L295Q |
probably damaging |
Het |
Nxph2 |
A |
G |
2: 23,289,946 (GRCm39) |
I99M |
probably benign |
Het |
Plekhg1 |
T |
A |
10: 3,895,904 (GRCm39) |
I432N |
probably damaging |
Het |
Pram1 |
C |
A |
17: 33,859,835 (GRCm39) |
A134D |
probably damaging |
Het |
Serpinb6c |
T |
A |
13: 34,081,317 (GRCm39) |
|
probably benign |
Het |
Stk10 |
A |
T |
11: 32,539,460 (GRCm39) |
E280V |
probably benign |
Het |
Tbc1d10c |
T |
A |
19: 4,240,708 (GRCm39) |
Q34L |
possibly damaging |
Het |
Tnr |
G |
A |
1: 159,691,349 (GRCm39) |
V500I |
probably benign |
Het |
Trim66 |
G |
A |
7: 109,057,458 (GRCm39) |
R992* |
probably null |
Het |
Unc45b |
A |
G |
11: 82,827,687 (GRCm39) |
D728G |
probably benign |
Het |
Usp13 |
A |
G |
3: 32,971,608 (GRCm39) |
D696G |
probably damaging |
Het |
Utrn |
C |
T |
10: 12,545,525 (GRCm39) |
V1707I |
probably benign |
Het |
Vmn2r96 |
A |
T |
17: 18,817,527 (GRCm39) |
H368L |
probably damaging |
Het |
Xrn1 |
T |
C |
9: 95,855,421 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
C |
A |
8: 109,673,866 (GRCm39) |
L1639M |
probably damaging |
Het |
Znfx1 |
A |
T |
2: 166,898,270 (GRCm39) |
V218E |
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 |
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 |
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 |
2014-05-07 |