Incidental Mutation 'R4525:Pon1'
| ID |
334405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pon1
|
| Ensembl Gene |
ENSMUSG00000002588 |
| Gene Name |
paraoxonase 1 |
| Synonyms |
Pon |
| MMRRC Submission |
041767-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4525 (G1)
|
| Quality Score |
179 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
5168101-5193824 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 5177412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002663]
[ENSMUST00000176945]
[ENSMUST00000177159]
|
| AlphaFold |
P52430 |
| Predicted Effect |
probably null
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 |
probably benign
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 benign
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 |
|
| Meta Mutation Damage Score |
0.9495 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (32/33) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
A |
G |
2: 32,464,388 (GRCm39) |
|
probably benign |
Het |
| Ampd1 |
T |
C |
3: 103,002,049 (GRCm39) |
V510A |
probably damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,609 (GRCm39) |
Y495C |
probably damaging |
Het |
| Asap2 |
G |
A |
12: 21,279,293 (GRCm39) |
|
probably null |
Het |
| Cd47 |
T |
C |
16: 49,688,155 (GRCm39) |
V25A |
probably benign |
Het |
| Cer1 |
A |
G |
4: 82,802,906 (GRCm39) |
F139L |
possibly damaging |
Het |
| Cpne3 |
G |
T |
4: 19,523,206 (GRCm39) |
P527H |
probably damaging |
Het |
| Erbin |
T |
C |
13: 103,993,600 (GRCm39) |
I347V |
probably benign |
Het |
| Gm17542 |
T |
C |
10: 58,549,435 (GRCm39) |
D31G |
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,309,289 (GRCm39) |
C510S |
probably benign |
Het |
| Hnrnpk |
A |
G |
13: 58,541,696 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
T |
A |
9: 106,447,827 (GRCm39) |
Q27H |
possibly damaging |
Het |
| Kcna4 |
C |
A |
2: 107,125,410 (GRCm39) |
T48K |
possibly damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,444,608 (GRCm39) |
C336S |
probably damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,796,387 (GRCm39) |
T306A |
probably benign |
Het |
| Oplah |
G |
T |
15: 76,189,709 (GRCm39) |
L176M |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,483,966 (GRCm39) |
I3932T |
probably damaging |
Het |
| Shank1 |
A |
T |
7: 44,004,014 (GRCm39) |
H1902L |
possibly damaging |
Het |
| Sipa1 |
T |
A |
19: 5,701,985 (GRCm39) |
Q947L |
probably benign |
Het |
| Slit2 |
G |
T |
5: 48,407,215 (GRCm39) |
C882F |
probably damaging |
Het |
| Speer4a1 |
A |
T |
5: 26,244,341 (GRCm39) |
|
probably null |
Het |
| Spta1 |
A |
G |
1: 174,034,676 (GRCm39) |
D1035G |
probably null |
Het |
| Tas2r140 |
T |
C |
6: 133,032,207 (GRCm39) |
T184A |
possibly damaging |
Het |
| Timm10b |
A |
G |
7: 105,332,013 (GRCm39) |
N828S |
probably benign |
Het |
| Tmem161b |
T |
C |
13: 84,405,921 (GRCm39) |
I50T |
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,561,397 (GRCm39) |
N628D |
probably benign |
Het |
| Tnrc6a |
A |
G |
7: 122,779,005 (GRCm39) |
T102A |
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,208,787 (GRCm39) |
N563K |
probably damaging |
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 |
|
R0717:Pon1
|
UTSW |
6 |
5,193,674 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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'- TTGCCATCAAGGGAAATGCC -3'
(R):5'- CACTACAGCTCATATGACTTTCATGTC -3'
Sequencing Primer
(F):5'- GGAAATGCCAATGCCATTCG -3'
(R):5'- CCTCTGATGGTGTGAAGA -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation