Incidental Mutation 'R5473:Pon3'
| ID |
433922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pon3
|
| Ensembl Gene |
ENSMUSG00000029759 |
| Gene Name |
paraoxonase 3 |
| Synonyms |
|
| MMRRC Submission |
043034-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5473 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
5220852-5256286 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5256177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 17
(I17K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031773]
[ENSMUST00000125686]
[ENSMUST00000129344]
|
| AlphaFold |
Q62087 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031773
AA Change: I17K
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000031773
Gene: ENSMUSG00000029759
AA Change: I17K
| 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 |
possibly damaging
Transcript: ENSMUST00000129344
AA Change: I17K
PolyPhen 2
Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000118137
Gene: ENSMUSG00000029759
AA Change: I17K
| 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: ENSMUST00000176039
|
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.6%
|
| Validation Efficiency |
100% (66/66) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
T |
C |
7: 119,312,173 (GRCm39) |
Y549H |
probably damaging |
Het |
| Adamtsl4 |
G |
T |
3: 95,587,303 (GRCm39) |
Q758K |
probably damaging |
Het |
| Anapc1 |
G |
T |
2: 128,449,115 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
A |
T |
6: 118,492,797 (GRCm39) |
C1316S |
probably benign |
Het |
| Birc5 |
T |
C |
11: 117,743,533 (GRCm39) |
V89A |
possibly damaging |
Het |
| Camk2d |
G |
T |
3: 126,391,048 (GRCm39) |
|
probably benign |
Het |
| Ccdc47 |
A |
T |
11: 106,095,855 (GRCm39) |
S280R |
probably damaging |
Het |
| Cntnap5a |
T |
A |
1: 116,016,986 (GRCm39) |
F193Y |
probably benign |
Het |
| Cntrob |
G |
T |
11: 69,213,579 (GRCm39) |
D70E |
possibly damaging |
Het |
| Col24a1 |
A |
C |
3: 145,243,016 (GRCm39) |
M1519L |
probably benign |
Het |
| Col2a1 |
G |
T |
15: 97,885,370 (GRCm39) |
A491D |
unknown |
Het |
| Crat |
A |
G |
2: 30,297,726 (GRCm39) |
L266P |
probably damaging |
Het |
| Dlgap1 |
A |
T |
17: 70,824,025 (GRCm39) |
|
probably benign |
Het |
| Dnaaf10 |
T |
C |
11: 17,174,591 (GRCm39) |
V153A |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 23,039,351 (GRCm39) |
H104L |
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,398,782 (GRCm39) |
K774E |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,880,538 (GRCm39) |
I464T |
probably benign |
Het |
| Gorasp2 |
A |
C |
2: 70,508,950 (GRCm39) |
M123L |
probably damaging |
Het |
| H2-M10.3 |
A |
T |
17: 36,678,261 (GRCm39) |
V188E |
probably damaging |
Het |
| Hnrnpk |
A |
T |
13: 58,541,913 (GRCm39) |
W333R |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,154,985 (GRCm39) |
Y175H |
probably benign |
Het |
| Igf2r |
G |
T |
17: 12,914,201 (GRCm39) |
T1756K |
probably benign |
Het |
| Kcnq5 |
A |
G |
1: 21,527,626 (GRCm39) |
|
probably null |
Het |
| Kiz |
G |
T |
2: 146,811,915 (GRCm39) |
E675* |
probably null |
Het |
| Mcm3ap |
T |
G |
10: 76,338,593 (GRCm39) |
L1407R |
probably damaging |
Het |
| Mdc1 |
A |
G |
17: 36,158,952 (GRCm39) |
D444G |
probably benign |
Het |
| Myl3 |
C |
A |
9: 110,597,026 (GRCm39) |
H129N |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,788,126 (GRCm39) |
N1309S |
possibly damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,897,520 (GRCm39) |
Y269N |
probably damaging |
Het |
| Nsd1 |
A |
G |
13: 55,395,585 (GRCm39) |
N1165S |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,334,856 (GRCm39) |
D302G |
probably benign |
Het |
| Olfr908 |
A |
G |
9: 38,427,508 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or10j3 |
G |
C |
1: 173,031,732 (GRCm39) |
G270R |
probably benign |
Het |
| Or14j1 |
T |
C |
17: 38,146,630 (GRCm39) |
F247L |
probably benign |
Het |
| Or5d38 |
A |
T |
2: 87,954,981 (GRCm39) |
M116K |
possibly damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,045 (GRCm38) |
S241R |
probably damaging |
Het |
| Pde1a |
G |
T |
2: 79,736,372 (GRCm39) |
S87R |
probably damaging |
Het |
| Plagl2 |
A |
T |
2: 153,074,114 (GRCm39) |
C262* |
probably null |
Het |
| Plcg2 |
A |
G |
8: 118,361,140 (GRCm39) |
K1233R |
probably benign |
Het |
| Ppfia1 |
A |
T |
7: 144,045,229 (GRCm39) |
M951K |
probably benign |
Het |
| Pramel12 |
A |
G |
4: 143,145,874 (GRCm39) |
R448G |
probably damaging |
Het |
| Prpf31 |
A |
G |
7: 3,642,824 (GRCm39) |
K438E |
probably benign |
Het |
| Pum3 |
C |
A |
19: 27,396,248 (GRCm39) |
V328F |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,495 (GRCm39) |
E1677G |
probably benign |
Het |
| Rpf2 |
A |
G |
10: 40,103,627 (GRCm39) |
V96A |
possibly damaging |
Het |
| Rsrc2 |
C |
T |
5: 123,869,150 (GRCm39) |
A98T |
probably damaging |
Het |
| Saraf |
G |
A |
8: 34,628,412 (GRCm39) |
R86Q |
probably damaging |
Het |
| Scara5 |
T |
A |
14: 65,977,788 (GRCm39) |
D349E |
possibly damaging |
Het |
| Slc30a1 |
T |
C |
1: 191,641,734 (GRCm39) |
V460A |
possibly damaging |
Het |
| Tdrd7 |
G |
T |
4: 46,020,877 (GRCm39) |
V768L |
possibly damaging |
Het |
| Tshz2 |
T |
C |
2: 169,725,718 (GRCm39) |
S105P |
probably benign |
Het |
| Ufsp2 |
A |
G |
8: 46,445,258 (GRCm39) |
I362M |
probably damaging |
Het |
| Ugt1a7c |
T |
A |
1: 88,023,159 (GRCm39) |
I106K |
probably benign |
Het |
| Zdhhc5 |
A |
G |
2: 84,520,810 (GRCm39) |
Y456H |
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 |
|
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 |
|
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'- TAGAAAGGCACGCAGCTGTC -3'
(R):5'- CCCAAGACTGCTAGAAAGGATCAG -3'
Sequencing Primer
(F):5'- CCTTTGCTAGTGAACGAGTCTCAAG -3'
(R):5'- GGATCAGCACAACTGCCAGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation