Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02363:Ptgs2'

290630

Institutional Source

Australian Phenomics Network (link to record)

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) question?

Stock #

IGL02363

Quality Score

Status

Chromosome

Chromosomal Location

149975851-149983978 bp(+) (GRCm39)

Type of Mutation

splice site (4383 bp from exon)

DNA Base Change (assembly)

C to T at 149981460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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: A581V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035065
Gene: ENSMUSG00000032487
AA Change: A581V

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 null
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

Coding Region Coverage

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak8	T	C	2: 28,702,910 (GRCm39)	S425P	probably damaging	Het
Comt	T	C	16: 18,229,881 (GRCm39)	D153G	probably benign	Het
Cplane1	A	T	15: 8,247,921 (GRCm39)	H1490L	possibly damaging	Het
Exoc6	T	C	19: 37,597,402 (GRCm39)	I601T	probably damaging	Het
F11	A	T	8: 45,694,568 (GRCm39)	C598S	probably damaging	Het
Galnt13	G	T	2: 55,002,872 (GRCm39)	D524Y	probably damaging	Het
Glb1l3	T	C	9: 26,764,940 (GRCm39)	E157G	probably damaging	Het
Hc	T	C	2: 34,890,847 (GRCm39)	H1323R	probably benign	Het
Hsd3b5	T	C	3: 98,537,421 (GRCm39)	I32V	probably benign	Het
Il6ra	A	G	3: 89,778,560 (GRCm39)	S430P	probably benign	Het
Lama2	G	T	10: 27,242,062 (GRCm39)	T298K	probably damaging	Het
Nedd4l	T	C	18: 65,341,116 (GRCm39)		probably benign	Het
Ntrk3	T	C	7: 78,103,085 (GRCm39)	D405G	probably benign	Het
Opn5	T	C	17: 42,868,382 (GRCm39)	D371G	probably benign	Het
Pcdh15	G	T	10: 74,152,918 (GRCm39)	A408S	probably damaging	Het
Pim3	T	C	15: 88,747,116 (GRCm39)	V54A	probably benign	Het
Prdm5	T	C	6: 65,771,303 (GRCm39)	F38S	probably damaging	Het
Rnf185	A	G	11: 3,368,015 (GRCm39)	I221T	possibly damaging	Het
Slc27a2	T	C	2: 126,420,870 (GRCm39)	F318L	possibly damaging	Het
Spata1	T	C	3: 146,193,119 (GRCm39)	Y124C	possibly damaging	Het
Tmie	G	T	9: 110,699,821 (GRCm39)		probably benign	Het
Tph2	T	C	10: 114,915,886 (GRCm39)	K429R	probably benign	Het
Usp32	A	G	11: 84,935,613 (GRCm39)	Y388H	probably benign	Het
Vmn2r60	A	T	7: 41,844,578 (GRCm39)	Q647L	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
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
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

Posted On

2015-04-16