Incidental Mutation 'R1340:Ptgs2'
| ID |
156977 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptgs2
|
| Ensembl Gene |
ENSMUSG00000032487 |
| Gene Name |
prostaglandin-endoperoxide synthase 2 |
| Synonyms |
prostaglandin G/H synthase, Pghs2, PGHS-2, cyclooxygenase-2, cyclooxygenase 2, COX2, Cox-2, Tis10, PHS-2 |
| MMRRC Submission |
039405-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.786)
|
| Stock # |
R1340 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
149975851-149983978 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 149981228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 504
(F504V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035065]
[ENSMUST00000190784]
|
| AlphaFold |
Q05769 |
| PDB Structure |
CRYSTAL STRUCTURE OF ARACHIDONIC ACID BOUND TO THE CYCLOOXYGENASE ACTIVE SITE OF COX-2 [X-RAY DIFFRACTION]
CYCLOOXYGENASE-2 (PROSTAGLANDIN SYNTHASE-2) COMPLEXED WITH A SELECTIVE INHIBITOR, SC-558 [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF A MIXTURE OF ARACHIDONIC ACID AND PROSTAGLANDIN BOUND TO THE CYCLOOXYGENASE ACTIVE SITE OF COX-2: PROSTAGLANDIN STRUCTURE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF DICLOFENAC BOUND TO THE CYCLOOXYGENASE ACTIVE SITE OF COX-2 [X-RAY DIFFRACTION]
X-ray crystal structure of arachidonic acid bound to the cyclooxygenase channel of cyclooxygenase-2 [X-RAY DIFFRACTION]
X-ray crystal structure of eicosapentaenoic acid bound to the cyclooxygenase channel of cyclooxygenase-2 [X-RAY DIFFRACTION]
X-ray crystal structure of docosahexaenoic acid bound to the cyclooxygenase channel of cyclooxygenase-2 [X-RAY DIFFRACTION]
X-ray crystal structure of arachidonic acid bound in the cyclooxygenase channel of L531F murine COX-2 [X-RAY DIFFRACTION]
Structure of compound 5c-S bound at the active site of COX-2 [X-RAY DIFFRACTION]
Structure of celecoxib bound at the COX-2 active site [X-RAY DIFFRACTION]
>> 23 additional structures at PDB <<
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035065
AA Change: F504V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035065
Gene: ENSMUSG00000032487
AA Change: F504V
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
20 |
55 |
2.64e1 |
SMART |
|
low complexity region
|
182 |
198 |
N/A |
INTRINSIC |
|
Pfam:An_peroxidase
|
206 |
562 |
7.3e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190784
|
| SMART Domains |
Protein: ENSMUSP00000139904
Gene: ENSMUSG00000032487
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:EGF
|
1 |
23 |
2e-9 |
BLAST |
|
SCOP:d1eqga2
|
1 |
26 |
5e-8 |
SMART |
|
PDB:1CVU|B
|
1 |
62 |
1e-38 |
PDB |
|
SCOP:d1cvua1
|
27 |
62 |
1e-20 |
SMART |
|
| Meta Mutation Damage Score |
0.5308 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.9%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: This gene encodes an enzyme that is a member of the prostaglandin G/H synthase family. The encoded protein converts arachidonic acid to prostaglandin endoperoxide H2 which is a key enzymatic step in prostaglandin biosynthesis. This gene is the inducible prostaglandin G/H synthase family member that is upregulated during inflammation. Aberrant regulation of this gene is associated with cancer progression in several tissues and an increased risk of cardiovascular events. This gene is the target of many non-steroidal anti-inflammatory drugs. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice exhibit increased perinatal mortality associated with frequent lack of closure and remodeling of the ductus arteriosus, background-sensitive kidney dysplasia with microcyst formation, and myocardial fibrosis. Mutant females show impaired fertility. [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 |
|---|
| Abcc9 |
A |
T |
6: 142,628,581 (GRCm39) |
|
probably benign |
Het |
| Acat3 |
C |
T |
17: 13,148,564 (GRCm39) |
|
probably benign |
Het |
| Actn1 |
T |
C |
12: 80,219,918 (GRCm39) |
|
probably null |
Het |
| Adam8 |
G |
A |
7: 139,571,290 (GRCm39) |
S38F |
probably damaging |
Het |
| Aldh9a1 |
T |
G |
1: 167,184,913 (GRCm39) |
I275S |
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Alms1 |
G |
A |
6: 85,644,939 (GRCm39) |
|
probably null |
Het |
| Bltp3a |
A |
G |
17: 28,113,695 (GRCm39) |
N1289S |
probably benign |
Het |
| Cacna1d |
A |
G |
14: 29,794,024 (GRCm39) |
V1539A |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,348,403 (GRCm39) |
L724P |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,395,218 (GRCm39) |
T370A |
probably benign |
Het |
| Ccdc9 |
G |
A |
7: 16,009,315 (GRCm39) |
|
probably benign |
Het |
| Cep120 |
A |
T |
18: 53,857,463 (GRCm39) |
V334E |
probably damaging |
Het |
| Ces3a |
C |
T |
8: 105,784,545 (GRCm39) |
P462L |
probably damaging |
Het |
| Cgref1 |
A |
G |
5: 31,102,690 (GRCm39) |
|
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Csrnp3 |
T |
A |
2: 65,832,740 (GRCm39) |
F81Y |
probably damaging |
Het |
| Ddr2 |
T |
C |
1: 169,825,653 (GRCm39) |
T316A |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Epb41l5 |
A |
T |
1: 119,476,861 (GRCm39) |
*740R |
probably null |
Het |
| Gfpt2 |
A |
G |
11: 49,723,688 (GRCm39) |
K559E |
probably damaging |
Het |
| Gm2381 |
A |
G |
7: 42,469,828 (GRCm39) |
Y99H |
possibly damaging |
Het |
| Gsdma2 |
T |
C |
11: 98,548,475 (GRCm39) |
V242A |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,592,806 (GRCm39) |
N3771S |
probably benign |
Het |
| Lrriq4 |
A |
C |
3: 30,704,472 (GRCm39) |
T167P |
possibly damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,554,744 (GRCm39) |
T254A |
probably benign |
Het |
| Naip2 |
G |
A |
13: 100,325,630 (GRCm39) |
L93F |
possibly damaging |
Het |
| Nefh |
G |
GNNNNNNNNNNNNNNNNNN |
11: 4,891,002 (GRCm39) |
|
probably benign |
Het |
| Nrp1 |
T |
C |
8: 129,160,836 (GRCm39) |
S321P |
probably damaging |
Het |
| Nt5c1b |
T |
C |
12: 10,427,276 (GRCm39) |
V342A |
probably damaging |
Het |
| Nt5c3 |
A |
G |
6: 56,860,018 (GRCm39) |
M273T |
probably benign |
Het |
| Or12j2 |
A |
G |
7: 139,916,038 (GRCm39) |
T88A |
probably benign |
Het |
| Or1l4b |
T |
G |
2: 37,036,769 (GRCm39) |
L182V |
probably benign |
Het |
| Or6b1 |
G |
A |
6: 42,814,943 (GRCm39) |
V43M |
probably benign |
Het |
| Polr3f |
A |
G |
2: 144,380,548 (GRCm39) |
H297R |
probably benign |
Het |
| Ptpro |
C |
T |
6: 137,418,079 (GRCm39) |
P142L |
possibly damaging |
Het |
| Rps17 |
A |
G |
7: 80,993,481 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
A |
G |
7: 28,815,437 (GRCm39) |
S132P |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,441,958 (GRCm39) |
S1335P |
probably damaging |
Het |
| Senp6 |
T |
C |
9: 80,029,305 (GRCm39) |
V383A |
possibly damaging |
Het |
| Skint7 |
T |
C |
4: 111,837,416 (GRCm39) |
F65L |
probably damaging |
Het |
| Slc35f1 |
T |
C |
10: 52,965,550 (GRCm39) |
Y322H |
probably damaging |
Het |
| Slc38a4 |
C |
A |
15: 96,908,153 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Sox15 |
T |
A |
11: 69,546,373 (GRCm39) |
S59T |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,159,910 (GRCm39) |
|
probably benign |
Het |
| Txlnb |
A |
T |
10: 17,718,488 (GRCm39) |
I440F |
probably damaging |
Het |
| Vmn1r178 |
A |
G |
7: 23,593,281 (GRCm39) |
S37G |
probably benign |
Het |
| Vmn2r75 |
T |
C |
7: 85,797,798 (GRCm39) |
T672A |
probably damaging |
Het |
| Wscd1 |
T |
C |
11: 71,659,586 (GRCm39) |
V222A |
probably benign |
Het |
|
| Other mutations in Ptgs2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00903:Ptgs2
|
APN |
1 |
149,980,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01626:Ptgs2
|
APN |
1 |
149,979,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01758:Ptgs2
|
APN |
1 |
149,977,740 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02168:Ptgs2
|
APN |
1 |
149,979,430 (GRCm39) |
splice site |
probably null |
|
|
IGL02309:Ptgs2
|
APN |
1 |
149,981,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02363:Ptgs2
|
APN |
1 |
149,981,460 (GRCm39) |
splice site |
probably null |
|
|
IGL02574:Ptgs2
|
APN |
1 |
149,978,526 (GRCm39) |
nonsense |
probably null |
|
|
IGL03156:Ptgs2
|
APN |
1 |
149,981,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0436:Ptgs2
|
UTSW |
1 |
149,980,028 (GRCm39) |
unclassified |
probably benign |
|
|
R0629:Ptgs2
|
UTSW |
1 |
149,976,788 (GRCm39) |
missense |
probably benign |
|
|
R0631:Ptgs2
|
UTSW |
1 |
149,980,288 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0811:Ptgs2
|
UTSW |
1 |
149,977,105 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0812:Ptgs2
|
UTSW |
1 |
149,977,105 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0980:Ptgs2
|
UTSW |
1 |
149,980,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1626:Ptgs2
|
UTSW |
1 |
149,979,619 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1666:Ptgs2
|
UTSW |
1 |
149,977,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1742:Ptgs2
|
UTSW |
1 |
149,980,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1926:Ptgs2
|
UTSW |
1 |
149,975,979 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2148:Ptgs2
|
UTSW |
1 |
149,981,465 (GRCm39) |
missense |
probably benign |
|
|
R2361:Ptgs2
|
UTSW |
1 |
149,979,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2927:Ptgs2
|
UTSW |
1 |
149,977,011 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3966:Ptgs2
|
UTSW |
1 |
149,981,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4291:Ptgs2
|
UTSW |
1 |
149,976,002 (GRCm39) |
missense |
probably benign |
|
|
R4580:Ptgs2
|
UTSW |
1 |
149,979,845 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4668:Ptgs2
|
UTSW |
1 |
149,976,835 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4751:Ptgs2
|
UTSW |
1 |
149,979,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Ptgs2
|
UTSW |
1 |
149,981,138 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5264:Ptgs2
|
UTSW |
1 |
149,978,481 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5570:Ptgs2
|
UTSW |
1 |
149,979,859 (GRCm39) |
missense |
|
|
|
R5587:Ptgs2
|
UTSW |
1 |
149,981,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5761:Ptgs2
|
UTSW |
1 |
149,981,279 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5850:Ptgs2
|
UTSW |
1 |
149,981,127 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6137:Ptgs2
|
UTSW |
1 |
149,976,744 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6513:Ptgs2
|
UTSW |
1 |
149,975,879 (GRCm39) |
unclassified |
probably benign |
|
|
R6553:Ptgs2
|
UTSW |
1 |
149,979,738 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6585:Ptgs2
|
UTSW |
1 |
149,979,738 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6593:Ptgs2
|
UTSW |
1 |
149,976,784 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6772:Ptgs2
|
UTSW |
1 |
149,977,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6850:Ptgs2
|
UTSW |
1 |
149,981,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7205:Ptgs2
|
UTSW |
1 |
149,978,512 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7320:Ptgs2
|
UTSW |
1 |
149,978,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7567:Ptgs2
|
UTSW |
1 |
149,978,448 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7751:Ptgs2
|
UTSW |
1 |
149,980,258 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7863:Ptgs2
|
UTSW |
1 |
149,977,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8100:Ptgs2
|
UTSW |
1 |
149,978,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8117:Ptgs2
|
UTSW |
1 |
149,979,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8128:Ptgs2
|
UTSW |
1 |
149,977,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8906:Ptgs2
|
UTSW |
1 |
149,979,859 (GRCm39) |
missense |
|
|
|
R8964:Ptgs2
|
UTSW |
1 |
149,980,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9184:Ptgs2
|
UTSW |
1 |
149,980,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9563:Ptgs2
|
UTSW |
1 |
149,981,419 (GRCm39) |
missense |
probably benign |
|
|
R9568:Ptgs2
|
UTSW |
1 |
149,976,842 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9615:Ptgs2
|
UTSW |
1 |
149,980,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ptgs2
|
UTSW |
1 |
149,981,472 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTGAAGCCGTACACATCATTTG -3'
(R):5'- AAGGGACACCCCTTCACATTATTGC -3'
Sequencing Primer
(F):5'- tcttcctcttcctcctcctc -3'
(R):5'- CCCTTCACATTATTGCAGATGAGAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation