Incidental Mutation 'R2927:Ptgs2'
| ID |
255789 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.786)
|
| Stock # |
R2927 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
149975851-149983978 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 149977011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 41
(T41S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035065]
[ENSMUST00000190784]
|
| AlphaFold |
Q05769 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035065
AA Change: T73S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000035065
Gene: ENSMUSG00000032487
AA Change: T73S
| 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 |
noncoding transcript
Transcript: ENSMUST00000181460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181915
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190784
AA Change: T41S
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139904
Gene: ENSMUSG00000032487
AA Change: T41S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Dsc2 |
T |
C |
18: 20,178,558 (GRCm39) |
Y282C |
probably damaging |
Het |
| Dsg1b |
C |
A |
18: 20,538,308 (GRCm39) |
P638Q |
probably benign |
Het |
| Eea1 |
C |
T |
10: 95,849,220 (GRCm39) |
S486L |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ift22 |
A |
G |
5: 136,941,799 (GRCm39) |
D147G |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,236,848 (GRCm39) |
Q1111L |
probably benign |
Het |
| Ikzf1 |
T |
C |
11: 11,719,324 (GRCm39) |
Y344H |
probably damaging |
Het |
| Kif1c |
T |
A |
11: 70,617,140 (GRCm39) |
C813S |
probably benign |
Het |
| Krt16 |
A |
G |
11: 100,139,625 (GRCm39) |
L31P |
unknown |
Het |
| Lrrc49 |
G |
A |
9: 60,501,029 (GRCm39) |
R633* |
probably null |
Het |
| Mllt6 |
T |
A |
11: 97,571,602 (GRCm39) |
F1080I |
probably damaging |
Het |
| Or52ae7 |
A |
G |
7: 103,120,089 (GRCm39) |
Y281C |
probably damaging |
Het |
| Plxnc1 |
T |
G |
10: 94,629,154 (GRCm39) |
|
probably null |
Het |
| Ppp4r2 |
T |
C |
6: 100,838,426 (GRCm39) |
Y115H |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,125,388 (GRCm39) |
D437E |
probably benign |
Het |
| Pstpip2 |
C |
A |
18: 77,949,589 (GRCm39) |
Q133K |
probably damaging |
Het |
| Slc36a1 |
G |
A |
11: 55,123,201 (GRCm39) |
A389T |
probably damaging |
Het |
| Vav2 |
A |
G |
2: 27,316,403 (GRCm39) |
V30A |
probably damaging |
Het |
| Vmn1r119 |
C |
T |
7: 20,746,056 (GRCm39) |
V109I |
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 |
|
R1340:Ptgs2
|
UTSW |
1 |
149,981,228 (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 |
|
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'- TAAGTGTGACTGTACCCGGAC -3'
(R):5'- AAAGGTCAGGATAGTTCTTGGG -3'
Sequencing Primer
(F):5'- ACTGTACCCGGACTGGATTCTATG -3'
(R):5'- GGTTGGGTTTCTAGTGCCTAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation