Incidental Mutation 'R0717:Pon1'
| ID |
62862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pon1
|
| Ensembl Gene |
ENSMUSG00000002588 |
| Gene Name |
paraoxonase 1 |
| Synonyms |
Pon |
| MMRRC Submission |
038899-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0717 (G1)
|
| Quality Score |
131 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
5168101-5193824 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 5193674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002663]
[ENSMUST00000176945]
[ENSMUST00000176945]
[ENSMUST00000177159]
[ENSMUST00000177159]
|
| AlphaFold |
P52430 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002663
|
| SMART Domains |
Protein: ENSMUSP00000002663
Gene: ENSMUSG00000002588
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
Pfam:SGL
|
83 |
308 |
1.9e-13 |
PFAM |
|
Pfam:Arylesterase
|
168 |
253 |
9e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176933
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176945
|
| SMART Domains |
Protein: ENSMUSP00000135728
Gene: ENSMUSG00000002588
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3SRG|A
|
1 |
165 |
9e-86 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176945
|
| SMART Domains |
Protein: ENSMUSP00000135728
Gene: ENSMUSG00000002588
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3SRG|A
|
1 |
165 |
9e-86 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177159
|
| SMART Domains |
Protein: ENSMUSP00000135195
Gene: ENSMUSG00000002588
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
Pfam:Arylesterase
|
145 |
186 |
2.1e-7 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177159
|
| SMART Domains |
Protein: ENSMUSP00000135195
Gene: ENSMUSG00000002588
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
Pfam:Arylesterase
|
145 |
186 |
2.1e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 91.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene is an arylesterase that mainly hydrolyzes paroxon to produce p-nitrophenol. Paroxon is an organophosphorus anticholinesterase compound that is produced in vivo by oxidation of the insecticide parathion. Polymorphisms in this gene are a risk factor in coronary artery disease. The gene is found in a cluster of three related paraoxonase genes at 7q21.3. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutation of this gene results in increased susceptibility to organophosphate toxicity and atherosclerosis when fed a high-fat/cholesterol diet. Females exhibit increased LDL and VLD cholesterol levels. Macrophages show increased oxidative stress. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amn1 |
G |
A |
6: 149,084,970 (GRCm39) |
H37Y |
possibly damaging |
Het |
| Anxa11 |
G |
A |
14: 25,875,213 (GRCm39) |
|
probably null |
Het |
| Arhgap33 |
G |
T |
7: 30,227,774 (GRCm39) |
A475E |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,026,029 (GRCm39) |
N811S |
probably damaging |
Het |
| Cadm1 |
T |
A |
9: 47,721,366 (GRCm39) |
M252K |
probably benign |
Het |
| Cars1 |
T |
C |
7: 143,138,492 (GRCm39) |
R149G |
probably damaging |
Het |
| Ccdc125 |
A |
T |
13: 100,826,866 (GRCm39) |
D241V |
probably damaging |
Het |
| Col12a1 |
G |
A |
9: 79,519,701 (GRCm39) |
P2836S |
probably damaging |
Het |
| Grid2 |
T |
A |
6: 64,643,259 (GRCm39) |
I1007K |
possibly damaging |
Het |
| Hdhd2 |
G |
A |
18: 77,038,900 (GRCm39) |
A28T |
possibly damaging |
Het |
| Hivep1 |
A |
T |
13: 42,308,422 (GRCm39) |
T221S |
possibly damaging |
Het |
| Lztr1 |
A |
G |
16: 17,333,912 (GRCm39) |
|
probably null |
Het |
| Mbd1 |
C |
T |
18: 74,406,668 (GRCm39) |
A137V |
possibly damaging |
Het |
| Myh15 |
T |
C |
16: 48,963,356 (GRCm39) |
V1099A |
probably benign |
Het |
| Nox4 |
C |
A |
7: 86,954,098 (GRCm39) |
Y134* |
probably null |
Het |
| Or5k14 |
A |
G |
16: 58,693,133 (GRCm39) |
C127R |
probably damaging |
Het |
| Pde1c |
T |
A |
6: 56,099,997 (GRCm39) |
N681I |
probably damaging |
Het |
| Prokr2 |
T |
C |
2: 132,223,254 (GRCm39) |
D96G |
probably damaging |
Het |
| Sdk2 |
C |
A |
11: 113,723,152 (GRCm39) |
V1280F |
probably damaging |
Het |
| Sim1 |
A |
G |
10: 50,785,924 (GRCm39) |
D259G |
probably damaging |
Het |
| Tcaf1 |
A |
T |
6: 42,655,599 (GRCm39) |
M459K |
probably benign |
Het |
| Tmem201 |
T |
A |
4: 149,803,267 (GRCm39) |
N534Y |
probably damaging |
Het |
| Tspan9 |
A |
T |
6: 127,943,343 (GRCm39) |
|
probably null |
Het |
| Uba7 |
A |
T |
9: 107,854,416 (GRCm39) |
T252S |
probably benign |
Het |
| Ube2e2 |
T |
C |
14: 18,888,435 (GRCm38) |
T3A |
probably benign |
Het |
|
| Other mutations in Pon1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01655:Pon1
|
APN |
6 |
5,175,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02511:Pon1
|
APN |
6 |
5,193,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02604:Pon1
|
APN |
6 |
5,168,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4618001:Pon1
|
UTSW |
6 |
5,168,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0838:Pon1
|
UTSW |
6 |
5,175,758 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2365:Pon1
|
UTSW |
6 |
5,171,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4525:Pon1
|
UTSW |
6 |
5,177,412 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5229:Pon1
|
UTSW |
6 |
5,177,295 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5412:Pon1
|
UTSW |
6 |
5,185,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Pon1
|
UTSW |
6 |
5,185,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6594:Pon1
|
UTSW |
6 |
5,185,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6985:Pon1
|
UTSW |
6 |
5,168,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7439:Pon1
|
UTSW |
6 |
5,177,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7543:Pon1
|
UTSW |
6 |
5,168,400 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7691:Pon1
|
UTSW |
6 |
5,175,819 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7756:Pon1
|
UTSW |
6 |
5,168,344 (GRCm39) |
missense |
probably benign |
|
|
R7758:Pon1
|
UTSW |
6 |
5,168,344 (GRCm39) |
missense |
probably benign |
|
|
R8444:Pon1
|
UTSW |
6 |
5,177,327 (GRCm39) |
nonsense |
probably null |
|
|
R8478:Pon1
|
UTSW |
6 |
5,185,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8517:Pon1
|
UTSW |
6 |
5,171,769 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9346:Pon1
|
UTSW |
6 |
5,193,722 (GRCm39) |
missense |
probably benign |
|
|
R9773:Pon1
|
UTSW |
6 |
5,177,339 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAGCTAGGCACACAGACCTTGC -3'
(R):5'- GCCAATCCAGAGTTGTCAAAGCCAC -3'
Sequencing Primer
(F):5'- CAGACACAGGGCAGGTTTTTAAC -3'
(R):5'- TGTCAAAGCCACTGGGCTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation