Incidental Mutation 'PIT4618001:Pon1'
ID |
555691 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pon1
|
Ensembl Gene |
ENSMUSG00000002588 |
Gene Name |
paraoxonase 1 |
Synonyms |
Pon |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4618001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
5168101-5193824 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 5168349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 353
(C353R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002663
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002663]
[ENSMUST00000035813]
[ENSMUST00000176945]
[ENSMUST00000177159]
|
AlphaFold |
P52430 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002663
AA Change: C353R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000002663 Gene: ENSMUSG00000002588 AA Change: C353R
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: ENSMUST00000035813
|
SMART Domains |
Protein: ENSMUSP00000046906 Gene: ENSMUSG00000032827
Domain | Start | End | E-Value | Type |
low complexity region
|
416 |
435 |
N/A |
INTRINSIC |
PDZ
|
513 |
593 |
4.26e-18 |
SMART |
low complexity region
|
608 |
620 |
N/A |
INTRINSIC |
Blast:PDZ
|
741 |
778 |
5e-15 |
BLAST |
low complexity region
|
784 |
798 |
N/A |
INTRINSIC |
SAM
|
986 |
1052 |
6.41e-16 |
SMART |
|
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 |
|
Coding Region Coverage |
- 1x: 93.4%
- 3x: 91.0%
- 10x: 85.9%
- 20x: 75.2%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
A |
T |
5: 107,693,575 (GRCm39) |
D64V |
probably damaging |
Het |
Ankdd1a |
A |
C |
9: 65,414,932 (GRCm39) |
I268S |
possibly damaging |
Het |
Atad3a |
C |
T |
4: 155,834,595 (GRCm39) |
R402Q |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,827,746 (GRCm39) |
V157A |
probably benign |
Het |
Cd200l1 |
A |
G |
16: 45,264,297 (GRCm39) |
F87S |
probably benign |
Het |
Cd55 |
C |
T |
1: 130,384,606 (GRCm39) |
V206I |
probably benign |
Het |
Cd8a |
A |
G |
6: 71,350,661 (GRCm39) |
D42G |
possibly damaging |
Het |
Cemip |
G |
T |
7: 83,593,147 (GRCm39) |
F1185L |
probably benign |
Het |
Cfap58 |
A |
G |
19: 47,963,953 (GRCm39) |
D527G |
probably damaging |
Het |
Cyp2a12 |
C |
A |
7: 26,734,198 (GRCm39) |
S377Y |
probably benign |
Het |
Dapk2 |
A |
G |
9: 66,175,968 (GRCm39) |
D289G |
probably benign |
Het |
Efcab6 |
G |
A |
15: 83,867,647 (GRCm39) |
A277V |
probably benign |
Het |
Ephx2 |
A |
T |
14: 66,339,671 (GRCm39) |
F250L |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,111,088 (GRCm39) |
S1039C |
unknown |
Het |
Gramd1a |
A |
G |
7: 30,832,021 (GRCm39) |
V674A |
probably benign |
Het |
Gtf2a1 |
A |
C |
12: 91,534,543 (GRCm39) |
V237G |
probably benign |
Het |
I830077J02Rik |
G |
A |
3: 105,833,886 (GRCm39) |
T90M |
probably damaging |
Het |
Jagn1 |
T |
A |
6: 113,424,398 (GRCm39) |
L90H |
probably damaging |
Het |
Mdn1 |
G |
T |
4: 32,746,527 (GRCm39) |
A4158S |
probably benign |
Het |
Myh11 |
G |
A |
16: 14,018,930 (GRCm39) |
A1839V |
|
Het |
Olr1 |
G |
A |
6: 129,476,869 (GRCm39) |
A132V |
probably damaging |
Het |
Paqr3 |
A |
T |
5: 97,251,330 (GRCm39) |
H131Q |
possibly damaging |
Het |
Pde4b |
A |
T |
4: 102,460,009 (GRCm39) |
T397S |
probably benign |
Het |
Ppie |
G |
A |
4: 123,032,661 (GRCm39) |
T43I |
probably null |
Het |
Prr5l |
A |
G |
2: 101,588,875 (GRCm39) |
F92L |
probably damaging |
Het |
Rai14 |
T |
C |
15: 10,575,242 (GRCm39) |
Y601C |
probably damaging |
Het |
Rasal1 |
A |
G |
5: 120,808,441 (GRCm39) |
D491G |
probably damaging |
Het |
Rbm12b1 |
T |
A |
4: 12,145,441 (GRCm39) |
V471E |
probably damaging |
Het |
Rpusd2 |
T |
C |
2: 118,868,933 (GRCm39) |
L452P |
possibly damaging |
Het |
Scgb2b24 |
A |
T |
7: 33,438,036 (GRCm39) |
C24S |
probably damaging |
Het |
Slc17a5 |
C |
T |
9: 78,445,530 (GRCm39) |
V468M |
possibly damaging |
Het |
Tcp10c |
A |
G |
17: 13,576,772 (GRCm39) |
K117R |
possibly damaging |
Het |
Ubash3b |
A |
G |
9: 40,927,923 (GRCm39) |
S584P |
probably benign |
Het |
Vps13b |
C |
T |
15: 35,709,386 (GRCm39) |
R1778C |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,967,665 (GRCm39) |
I220M |
probably benign |
Het |
Zfp474 |
C |
A |
18: 52,771,476 (GRCm39) |
T43K |
probably damaging |
Het |
Zscan4-ps3 |
G |
A |
7: 11,347,261 (GRCm39) |
M432I |
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 |
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 |
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'- GGGACTTGAGAAATTTAGCCATTTTGG -3'
(R):5'- TCACCTCATGCAATTTCTTTGACAG -3'
Sequencing Primer
(F):5'- CAAGAAACCCTTGCTAGTTAGGATC -3'
(R):5'- TGACAGGTGCTTCGAATCCAG -3'
|
Posted On |
2019-06-07 |