Incidental Mutation 'R2697:Pon3'
| ID |
251170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pon3
|
| Ensembl Gene |
ENSMUSG00000029759 |
| Gene Name |
paraoxonase 3 |
| Synonyms |
|
| MMRRC Submission |
040435-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2697 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
5220852-5256286 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5232429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 197
(L197S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031773]
[ENSMUST00000125686]
[ENSMUST00000129344]
|
| AlphaFold |
Q62087 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031773
AA Change: L197S
PolyPhen 2
Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000031773
Gene: ENSMUSG00000029759
AA Change: L197S
| 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 |
possibly damaging
Transcript: ENSMUST00000125686
AA Change: L124S
PolyPhen 2
Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000135603
Gene: ENSMUSG00000029759
AA Change: L124S
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
T |
C |
6: 132,603,619 (GRCm39) |
S46G |
unknown |
Het |
| Acaca |
T |
A |
11: 84,255,239 (GRCm39) |
D1932E |
probably damaging |
Het |
| Adam7 |
A |
T |
14: 68,752,232 (GRCm39) |
C417* |
probably null |
Het |
| Adgrl4 |
A |
C |
3: 151,216,260 (GRCm39) |
Q481P |
probably damaging |
Het |
| Adra2c |
C |
A |
5: 35,438,042 (GRCm39) |
N271K |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,580,097 (GRCm39) |
K2035R |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,625,305 (GRCm39) |
T182A |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,308,746 (GRCm39) |
Y805H |
probably damaging |
Het |
| BC024139 |
TCCACCACCACCACCACCAC |
TCCACCACCACCACCAC |
15: 76,004,393 (GRCm39) |
|
probably benign |
Het |
| Cabp7 |
C |
T |
11: 4,688,837 (GRCm39) |
R211H |
probably damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,484,888 (GRCm39) |
N112S |
possibly damaging |
Het |
| Cep120 |
C |
T |
18: 53,873,197 (GRCm39) |
D45N |
probably benign |
Het |
| Cpsf1 |
T |
C |
15: 76,483,529 (GRCm39) |
Y872C |
probably damaging |
Het |
| Cradd |
A |
G |
10: 95,011,807 (GRCm39) |
L111P |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,079,815 (GRCm39) |
L155P |
probably damaging |
Het |
| Fgd2 |
A |
T |
17: 29,595,895 (GRCm39) |
T518S |
probably damaging |
Het |
| Gpam |
C |
T |
19: 55,071,641 (GRCm39) |
E367K |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,243,126 (GRCm39) |
N1826I |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,549,656 (GRCm39) |
E357G |
probably damaging |
Het |
| Krt1 |
T |
A |
15: 101,755,364 (GRCm39) |
D465V |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,572,466 (GRCm39) |
V407E |
probably benign |
Het |
| Macrod1 |
T |
C |
19: 7,174,157 (GRCm39) |
V221A |
probably damaging |
Het |
| Mbd1 |
T |
C |
18: 74,406,688 (GRCm39) |
S144P |
possibly damaging |
Het |
| Mtfmt |
T |
C |
9: 65,359,303 (GRCm39) |
V326A |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,902,517 (GRCm39) |
D71G |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,493,274 (GRCm39) |
Y705C |
probably damaging |
Het |
| Nudt9 |
T |
C |
5: 104,212,859 (GRCm39) |
W311R |
probably damaging |
Het |
| Or11g27 |
C |
T |
14: 50,771,238 (GRCm39) |
A123V |
probably damaging |
Het |
| Or2a57 |
A |
T |
6: 43,213,060 (GRCm39) |
I173F |
probably damaging |
Het |
| Or2h15 |
A |
G |
17: 38,441,900 (GRCm39) |
F61S |
probably damaging |
Het |
| Or6c65 |
G |
A |
10: 129,603,793 (GRCm39) |
V143I |
probably benign |
Het |
| Osbp2 |
A |
T |
11: 3,813,407 (GRCm39) |
L154Q |
probably benign |
Het |
| P3h1 |
A |
G |
4: 119,104,377 (GRCm39) |
T633A |
probably damaging |
Het |
| Polq |
T |
G |
16: 36,862,515 (GRCm39) |
L616R |
probably damaging |
Het |
| Rap1gds1 |
C |
T |
3: 138,689,482 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rfng |
C |
A |
11: 120,674,865 (GRCm39) |
|
probably benign |
Het |
| Rps6ka2 |
T |
G |
17: 7,567,721 (GRCm39) |
L728R |
probably benign |
Het |
| Slc41a3 |
C |
A |
6: 90,619,302 (GRCm39) |
N360K |
possibly damaging |
Het |
| Sult1e1 |
T |
C |
5: 87,726,397 (GRCm39) |
N239S |
probably damaging |
Het |
| Tacr1 |
T |
A |
6: 82,469,578 (GRCm39) |
I154N |
probably damaging |
Het |
| Tacstd2 |
T |
A |
6: 67,512,203 (GRCm39) |
H163L |
probably benign |
Het |
| Tent5a |
T |
C |
9: 85,206,793 (GRCm39) |
D335G |
possibly damaging |
Het |
| Tiam1 |
T |
C |
16: 89,590,052 (GRCm39) |
S1382G |
probably benign |
Het |
| Tmem43 |
A |
G |
6: 91,456,911 (GRCm39) |
E164G |
possibly damaging |
Het |
| U2af2 |
G |
A |
7: 5,070,545 (GRCm39) |
R78H |
probably benign |
Het |
| Yipf7 |
T |
A |
5: 69,698,483 (GRCm39) |
D8V |
possibly damaging |
Het |
| Zfp58 |
G |
A |
13: 67,639,124 (GRCm39) |
H456Y |
probably damaging |
Het |
| Zfp799 |
G |
A |
17: 33,039,214 (GRCm39) |
R351* |
probably null |
Het |
| Zfyve9 |
T |
C |
4: 108,553,016 (GRCm39) |
D715G |
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 |
|
IGL01983:Pon3
|
APN |
6 |
5,240,974 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGCTAACTACTTGAACCTAAGGG -3'
(R):5'- GTCCAGATTTTGTTTGTGGGTAAACAC -3'
Sequencing Primer
(F):5'- GGAACTCTTAAGGTAAGGAGCTCTTC -3'
(R):5'- GTGGGTAAACACATTTATCTAGGTAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation