Incidental Mutation 'R3794:Pon3'
| ID |
272685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pon3
|
| Ensembl Gene |
ENSMUSG00000029759 |
| Gene Name |
paraoxonase 3 |
| Synonyms |
|
| MMRRC Submission |
040756-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3794 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
5220852-5256286 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5221578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 351
(Y351H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031773]
[ENSMUST00000129344]
|
| AlphaFold |
Q62087 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031773
AA Change: Y351H
PolyPhen 2
Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000031773
Gene: ENSMUSG00000029759
AA Change: Y351H
| 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 |
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: ENSMUST00000203092
|
| Meta Mutation Damage Score |
0.1062 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (37/38) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
C |
T |
15: 98,496,824 (GRCm39) |
V482I |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,431,486 (GRCm39) |
M1L |
probably damaging |
Het |
| Ceacam13 |
A |
G |
7: 17,747,340 (GRCm39) |
*264W |
probably null |
Het |
| Dennd5b |
A |
T |
6: 149,002,715 (GRCm39) |
D31E |
possibly damaging |
Het |
| Dip2c |
T |
C |
13: 9,654,597 (GRCm39) |
V706A |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,707,630 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
T |
G |
6: 33,452,932 (GRCm39) |
V474G |
probably benign |
Het |
| F2rl1 |
A |
G |
13: 95,649,719 (GRCm39) |
Y388H |
unknown |
Het |
| Fasl |
T |
C |
1: 161,609,306 (GRCm39) |
R17G |
probably benign |
Het |
| Htr1a |
G |
A |
13: 105,580,852 (GRCm39) |
V31M |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
| Itih3 |
T |
C |
14: 30,640,351 (GRCm39) |
Y319C |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,735,240 (GRCm39) |
|
probably benign |
Het |
| Mobp |
A |
T |
9: 119,997,033 (GRCm39) |
K55* |
probably null |
Het |
| Ndufaf5 |
T |
A |
2: 140,044,843 (GRCm39) |
M279K |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,765,739 (GRCm39) |
I1057V |
probably benign |
Het |
| Or10al7 |
A |
G |
17: 38,365,786 (GRCm39) |
Y224H |
probably damaging |
Het |
| Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,214,864 (GRCm39) |
R1257Q |
probably damaging |
Het |
| Pigv |
A |
G |
4: 133,392,502 (GRCm39) |
S223P |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,531,382 (GRCm39) |
T464A |
probably damaging |
Het |
| Polr2k |
A |
G |
15: 36,175,193 (GRCm39) |
I18V |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
A |
G |
17: 3,240,524 (GRCm39) |
E632G |
probably damaging |
Het |
| Smurf1 |
A |
G |
5: 144,837,985 (GRCm39) |
|
probably null |
Het |
| Tex16 |
T |
G |
X: 111,150,375 (GRCm39) |
M1R |
probably null |
Het |
| Tln1 |
G |
T |
4: 43,536,295 (GRCm39) |
A1999D |
probably damaging |
Het |
| Trgv5 |
A |
T |
13: 19,376,694 (GRCm39) |
H47L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,772,781 (GRCm39) |
V2405I |
possibly damaging |
Het |
| Vps13d |
G |
A |
4: 144,812,007 (GRCm39) |
|
probably benign |
Het |
| Xrcc1 |
A |
G |
7: 24,269,985 (GRCm39) |
T469A |
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,605,070 (GRCm39) |
H612Q |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,113,386 (GRCm39) |
H509Y |
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 |
|
R2697:Pon3
|
UTSW |
6 |
5,232,429 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2975:Pon3
|
UTSW |
6 |
5,232,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGGACACATGGGTATCTGGTTG -3'
(R):5'- GTATAGCTTTTCCTGGACAGTGC -3'
Sequencing Primer
(F):5'- ATGGGTATCTGGTTGCCACTCAC -3'
(R):5'- TCCTGGACAGTGCAGTAATG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation