Incidental Mutation 'IGL01598:Pon2'
| ID |
91752 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pon2
|
| Ensembl Gene |
ENSMUSG00000032667 |
| Gene Name |
paraoxonase 2 |
| Synonyms |
6330405I24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01598
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
5264620-5298408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5272331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 163
(L163H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057792]
|
| AlphaFold |
Q62086 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057792
AA Change: L163H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062670
Gene: ENSMUSG00000032667
AA Change: L163H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
18 |
N/A |
INTRINSIC |
|
Pfam:SGL
|
107 |
303 |
1e-12 |
PFAM |
|
Pfam:Arylesterase
|
167 |
252 |
3.9e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123838
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135342
|
| 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 encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: When fed an atherogenic diet, mice homozygous for a gene trapped allele show markedly lower VLDL/LDL cholesterol and serum apoB levels, higher cellular oxidative stress, enhanced macrophage immunoreactivity and LDL-induced monocyte chemotaxis, and largeratheromatous lesions than wild-type mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410124H12Rik |
T |
A |
16: 92,275,817 (GRCm39) |
|
noncoding transcript |
Het |
| Apc2 |
T |
A |
10: 80,148,882 (GRCm39) |
L1283Q |
probably damaging |
Het |
| Apol6 |
G |
A |
15: 76,934,916 (GRCm39) |
A62T |
probably damaging |
Het |
| AU018091 |
A |
T |
7: 3,212,110 (GRCm39) |
I204N |
possibly damaging |
Het |
| B4galnt4 |
G |
T |
7: 140,650,428 (GRCm39) |
R765L |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,415,156 (GRCm39) |
T993A |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,522,202 (GRCm38) |
|
probably null |
Het |
| Ccdc177 |
A |
G |
12: 80,805,519 (GRCm39) |
S252P |
unknown |
Het |
| Cdc73 |
A |
G |
1: 143,575,017 (GRCm39) |
S59P |
probably damaging |
Het |
| Cep63 |
G |
T |
9: 102,467,657 (GRCm39) |
Q570K |
possibly damaging |
Het |
| Ces1c |
A |
T |
8: 93,845,041 (GRCm39) |
I120K |
probably benign |
Het |
| Cpeb1 |
T |
C |
7: 81,011,549 (GRCm39) |
M131V |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,624,562 (GRCm39) |
V3701I |
probably damaging |
Het |
| Fxr1 |
T |
C |
3: 34,118,381 (GRCm39) |
S535P |
possibly damaging |
Het |
| Gldc |
A |
T |
19: 30,111,156 (GRCm39) |
V540D |
probably damaging |
Het |
| Iqcf6 |
A |
G |
9: 106,504,707 (GRCm39) |
T124A |
probably benign |
Het |
| Itih4 |
A |
G |
14: 30,609,774 (GRCm39) |
I35V |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,478,664 (GRCm39) |
*1525W |
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,559,769 (GRCm39) |
V963E |
probably damaging |
Het |
| Lmnb2 |
T |
C |
10: 80,742,999 (GRCm39) |
S202G |
probably benign |
Het |
| Med23 |
T |
G |
10: 24,779,696 (GRCm39) |
S924R |
probably benign |
Het |
| Or5b102 |
T |
C |
19: 13,041,513 (GRCm39) |
V246A |
probably damaging |
Het |
| Pcif1 |
T |
C |
2: 164,728,531 (GRCm39) |
F263L |
possibly damaging |
Het |
| Scn1a |
C |
T |
2: 66,132,829 (GRCm39) |
V165M |
possibly damaging |
Het |
| Sema6d |
C |
A |
2: 124,507,018 (GRCm39) |
P961Q |
probably damaging |
Het |
| Snx27 |
A |
G |
3: 94,469,150 (GRCm39) |
Y64H |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,717,672 (GRCm39) |
|
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,462,510 (GRCm39) |
V193A |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,408,017 (GRCm39) |
|
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,743,471 (GRCm39) |
T4137A |
probably benign |
Het |
| Zbtb26 |
T |
C |
2: 37,326,283 (GRCm39) |
Y251C |
probably damaging |
Het |
|
| Other mutations in Pon2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02683:Pon2
|
APN |
6 |
5,269,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03240:Pon2
|
APN |
6 |
5,265,316 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0102:Pon2
|
UTSW |
6 |
5,289,091 (GRCm39) |
splice site |
probably benign |
|
|
R0102:Pon2
|
UTSW |
6 |
5,289,091 (GRCm39) |
splice site |
probably benign |
|
|
R0360:Pon2
|
UTSW |
6 |
5,266,156 (GRCm39) |
nonsense |
probably null |
|
|
R0364:Pon2
|
UTSW |
6 |
5,266,156 (GRCm39) |
nonsense |
probably null |
|
|
R0402:Pon2
|
UTSW |
6 |
5,272,410 (GRCm39) |
nonsense |
probably null |
|
|
R0494:Pon2
|
UTSW |
6 |
5,267,059 (GRCm39) |
splice site |
probably benign |
|
|
R1593:Pon2
|
UTSW |
6 |
5,273,003 (GRCm39) |
missense |
probably benign |
|
|
R3001:Pon2
|
UTSW |
6 |
5,268,976 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3002:Pon2
|
UTSW |
6 |
5,268,976 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3236:Pon2
|
UTSW |
6 |
5,266,986 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4467:Pon2
|
UTSW |
6 |
5,267,021 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4911:Pon2
|
UTSW |
6 |
5,269,029 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5237:Pon2
|
UTSW |
6 |
5,265,455 (GRCm39) |
missense |
probably benign |
|
|
R6025:Pon2
|
UTSW |
6 |
5,289,057 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6313:Pon2
|
UTSW |
6 |
5,272,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6737:Pon2
|
UTSW |
6 |
5,266,183 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7427:Pon2
|
UTSW |
6 |
5,268,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7438:Pon2
|
UTSW |
6 |
5,289,080 (GRCm39) |
missense |
probably benign |
|
|
R7517:Pon2
|
UTSW |
6 |
5,268,997 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8142:Pon2
|
UTSW |
6 |
5,266,239 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8318:Pon2
|
UTSW |
6 |
5,265,425 (GRCm39) |
missense |
probably benign |
|
|
R8863:Pon2
|
UTSW |
6 |
5,265,480 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9154:Pon2
|
UTSW |
6 |
5,265,391 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2013-12-09 |
Incidental Mutation