Incidental Mutation 'R1378:Pon3'
| ID |
162939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pon3
|
| Ensembl Gene |
ENSMUSG00000029759 |
| Gene Name |
paraoxonase 3 |
| Synonyms |
|
| MMRRC Submission |
039442-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1378 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
5220852-5256286 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 5230813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 238
(D238A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031773]
[ENSMUST00000125686]
[ENSMUST00000129344]
|
| AlphaFold |
Q62087 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031773
AA Change: D238A
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000031773
Gene: ENSMUSG00000029759
AA Change: D238A
| 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: ENSMUST00000125686
|
| SMART Domains |
Protein: ENSMUSP00000135603
Gene: ENSMUSG00000029759
| 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 |
|
| Meta Mutation Damage Score |
0.2351 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
100% (57/57) |
| 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 |
|---|
| Afap1 |
A |
G |
5: 36,126,030 (GRCm39) |
T342A |
probably damaging |
Het |
| Alg1 |
A |
G |
16: 5,061,580 (GRCm39) |
N406D |
probably damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,239,246 (GRCm39) |
M825K |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,967,450 (GRCm39) |
I4117K |
probably damaging |
Het |
| Brinp2 |
A |
T |
1: 158,074,624 (GRCm39) |
L499Q |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,842,570 (GRCm39) |
V789D |
probably benign |
Het |
| Ccdc153 |
C |
G |
9: 44,154,958 (GRCm39) |
L94V |
probably null |
Het |
| Ccna1 |
A |
G |
3: 54,957,150 (GRCm39) |
V237A |
probably damaging |
Het |
| Cct7 |
T |
A |
6: 85,444,545 (GRCm39) |
|
probably null |
Het |
| Cenpb |
C |
T |
2: 131,020,230 (GRCm39) |
|
probably benign |
Het |
| Chrne |
T |
A |
11: 70,505,956 (GRCm39) |
|
probably null |
Het |
| Clstn3 |
T |
A |
6: 124,415,378 (GRCm39) |
D662V |
probably damaging |
Het |
| Clu |
G |
T |
14: 66,212,350 (GRCm39) |
C189F |
probably damaging |
Het |
| Cstdc5 |
A |
G |
16: 36,179,929 (GRCm39) |
C63R |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,973,052 (GRCm39) |
R1388C |
probably damaging |
Het |
| Dgka |
T |
C |
10: 128,571,696 (GRCm39) |
|
probably null |
Het |
| Dop1b |
A |
G |
16: 93,567,280 (GRCm39) |
T1236A |
probably benign |
Het |
| Edn2 |
A |
G |
4: 120,019,095 (GRCm39) |
E28G |
probably benign |
Het |
| Elp3 |
T |
C |
14: 65,830,380 (GRCm39) |
I24V |
probably benign |
Het |
| Faap24 |
T |
C |
7: 35,092,326 (GRCm39) |
E197G |
probably benign |
Het |
| Fam13a |
T |
A |
6: 58,933,736 (GRCm39) |
M285L |
probably benign |
Het |
| Gm9944 |
T |
A |
4: 144,179,773 (GRCm39) |
|
probably benign |
Het |
| Gsdmc3 |
T |
C |
15: 63,731,435 (GRCm39) |
|
probably benign |
Het |
| Gvin3 |
T |
A |
7: 106,201,373 (GRCm39) |
I624F |
probably damaging |
Het |
| Ift22 |
A |
C |
5: 136,941,757 (GRCm39) |
K133T |
probably benign |
Het |
| Il23r |
T |
A |
6: 67,429,394 (GRCm39) |
K316I |
possibly damaging |
Het |
| Klra17 |
T |
A |
6: 129,842,647 (GRCm39) |
E217V |
probably damaging |
Het |
| Nell2 |
A |
T |
15: 95,130,402 (GRCm39) |
V657E |
probably damaging |
Het |
| Nlrp4d |
C |
A |
7: 10,098,111 (GRCm39) |
K850N |
probably benign |
Het |
| Nsmce4a |
C |
T |
7: 130,139,900 (GRCm39) |
R276Q |
probably benign |
Het |
| Or10d4 |
T |
C |
9: 39,580,962 (GRCm39) |
L203P |
probably damaging |
Het |
| Or4p8 |
T |
A |
2: 88,727,370 (GRCm39) |
R190S |
probably benign |
Het |
| Or52s1b |
T |
C |
7: 102,822,475 (GRCm39) |
D123G |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,145 (GRCm39) |
R95* |
probably null |
Het |
| Pclo |
T |
C |
5: 14,732,327 (GRCm39) |
S3610P |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,547,751 (GRCm39) |
|
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,658,297 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,711 (GRCm39) |
Y1652C |
probably damaging |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Sel1l |
T |
C |
12: 91,799,871 (GRCm39) |
|
probably null |
Het |
| Soat1 |
A |
G |
1: 156,294,352 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
A |
T |
8: 34,065,244 (GRCm39) |
N1558I |
probably damaging |
Het |
| Tmem132d |
A |
T |
5: 128,346,011 (GRCm39) |
F170L |
probably benign |
Het |
| Tro |
G |
T |
X: 149,438,567 (GRCm39) |
P30Q |
probably damaging |
Het |
| Tubg2 |
G |
T |
11: 101,047,699 (GRCm39) |
E95* |
probably null |
Het |
| Unc45b |
G |
A |
11: 82,827,678 (GRCm39) |
S725N |
probably benign |
Het |
| Vmn2r7 |
A |
G |
3: 64,599,025 (GRCm39) |
S511P |
possibly damaging |
Het |
| Vps35l |
G |
T |
7: 118,393,795 (GRCm39) |
E515* |
probably null |
Het |
| Vps35l |
A |
T |
7: 118,393,796 (GRCm39) |
E515V |
probably damaging |
Het |
| Zfp174 |
G |
A |
16: 3,667,353 (GRCm39) |
E181K |
probably benign |
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 |
|
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 |
|
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'- TCCAGCACTGGGCACTAGCATTTC -3'
(R):5'- TGTGATTGAGCTTCGTTGCCACC -3'
Sequencing Primer
(F):5'- GCTTGGTGATAGCCCTCTAAAAG -3'
(R):5'- GACTCTATCATTGGAAGGATGCTC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation