Mutagenetix > Incidental Mutation

Incidental Mutation 'R1926:Ptgs2'

213404

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

039944-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.786) question?

Stock #

R1926 (G1)

Quality Score

117

Status

Not validated

Chromosome

Chromosomal Location

149975851-149983978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 149975979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 2 (L2P)

Ref Sequence

ENSEMBL: ENSMUSP00000035065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035065] [ENSMUST00000190784]

AlphaFold

Q05769

PDB Structure

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035065
AA Change: L2P

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035065
Gene: ENSMUSG00000032487
AA Change: L2P

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

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

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.6%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	C	T	7: 119,376,359 (GRCm39)	T362M	probably damaging	Het
Ang6	A	G	14: 44,239,695 (GRCm39)	V11A	possibly damaging	Het
Ankrd17	A	G	5: 90,392,028 (GRCm39)	Y1880H	probably damaging	Het
Bmi1	A	G	2: 18,687,084 (GRCm39)	I55V	probably benign	Het
Bnipl	G	A	3: 95,150,354 (GRCm39)	T297M	probably damaging	Het
Bpifa2	T	C	2: 153,855,669 (GRCm39)	V198A	probably benign	Het
Brms1l	G	T	12: 55,909,946 (GRCm39)	V239F	possibly damaging	Het
Ccdc158	A	G	5: 92,798,647 (GRCm39)	V351A	probably benign	Het
Ces1c	A	G	8: 93,854,232 (GRCm39)	F101S	possibly damaging	Het
Cpb2	T	C	14: 75,479,837 (GRCm39)	Y15H	probably benign	Het
Dglucy	A	T	12: 100,833,414 (GRCm39)	N535I	possibly damaging	Het
Dop1a	C	A	9: 86,405,072 (GRCm39)	H1763Q	probably damaging	Het
Dpy19l1	C	T	9: 24,385,120 (GRCm39)	M236I	probably benign	Het
Efna2	T	C	10: 80,022,710 (GRCm39)	Y85H	probably damaging	Het
Eipr1	A	T	12: 28,914,836 (GRCm39)		probably null	Het
Eln	A	T	5: 134,735,421 (GRCm39)	Y787*	probably null	Het
Erbb2	G	C	11: 98,315,990 (GRCm39)	E364D	probably benign	Het
F5	A	G	1: 164,007,077 (GRCm39)	T294A	probably damaging	Het
Fam47e	A	G	5: 92,733,244 (GRCm39)	T194A	possibly damaging	Het
Galk1	T	C	11: 115,901,073 (GRCm39)	D202G	probably damaging	Het
Glb1l2	T	C	9: 26,682,362 (GRCm39)	D163G	probably damaging	Het
Gmip	A	G	8: 70,268,170 (GRCm39)	E408G	probably benign	Het
Gp1ba	A	T	11: 70,531,715 (GRCm39)		probably benign	Het
Grm3	A	T	5: 9,554,881 (GRCm39)	C804S	probably damaging	Het
Gzmd	A	G	14: 56,367,737 (GRCm39)	C179R	probably damaging	Het
Hadhb	T	A	5: 30,385,935 (GRCm39)	L415Q	possibly damaging	Het
Ift80	T	C	3: 68,823,498 (GRCm39)	Y588C	probably damaging	Het
Jazf1	T	C	6: 53,045,516 (GRCm39)	T13A	probably benign	Het
Kat8	T	A	7: 127,514,467 (GRCm39)	Y67*	probably null	Het
Kcnab1	G	A	3: 65,283,933 (GRCm39)	E384K	possibly damaging	Het
Lhx3	A	T	2: 26,092,200 (GRCm39)	Y230*	probably null	Het
Lmx1b	T	A	2: 33,454,674 (GRCm39)	M365L	probably damaging	Het
Ly6k	G	T	15: 74,669,051 (GRCm39)	P76Q	probably benign	Het
Lypd10	G	A	7: 24,413,541 (GRCm39)	G186R	probably damaging	Het
Map1b	A	T	13: 99,567,200 (GRCm39)	H1840Q	unknown	Het
Map3k2	A	G	18: 32,336,163 (GRCm39)	I117V	probably damaging	Het
Med13	C	A	11: 86,179,899 (GRCm39)	A1350S	possibly damaging	Het
Midn	T	C	10: 79,987,495 (GRCm39)	S109P	probably damaging	Het
Msh6	A	G	17: 88,293,653 (GRCm39)	T803A	probably benign	Het
Nckap1	T	C	2: 80,337,182 (GRCm39)	Y1018C	probably damaging	Het
Ndufc1	A	T	3: 51,314,816 (GRCm39)	N63K	probably benign	Het
Neb	A	T	2: 52,169,647 (GRCm39)	S1811R	probably damaging	Het
Notch1	T	C	2: 26,371,669 (GRCm39)	D260G	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Oas1g	T	C	5: 121,017,205 (GRCm39)	K283R	probably benign	Het
Obscn	T	C	11: 58,954,300 (GRCm39)	T4037A		Het
Or6b1	T	G	6: 42,815,247 (GRCm39)	L144R	probably damaging	Het
Or6b3	A	G	1: 92,439,330 (GRCm39)	L140P	probably damaging	Het
Otop2	A	T	11: 115,217,781 (GRCm39)	T206S	probably benign	Het
Pamr1	A	G	2: 102,471,342 (GRCm39)		probably null	Het
Pkp1	G	A	1: 135,805,411 (GRCm39)	T675I	probably benign	Het
Plxna2	G	A	1: 194,444,758 (GRCm39)	V717I	probably benign	Het
Rarg	A	G	15: 102,147,980 (GRCm39)	F277S	probably damaging	Het
Rassf5	A	T	1: 131,140,076 (GRCm39)	I161N	probably damaging	Het
Resf1	C	T	6: 149,230,902 (GRCm39)	T1316I	probably benign	Het
Rxfp4	A	G	3: 88,559,659 (GRCm39)	V264A	probably benign	Het
Secisbp2l	T	A	2: 125,582,597 (GRCm39)	Q953L	probably damaging	Het
Serpinb9c	T	C	13: 33,334,218 (GRCm39)	I275V	probably benign	Het
Slc2a12	T	C	10: 22,541,141 (GRCm39)	V332A	probably damaging	Het
Slc7a1	T	C	5: 148,285,113 (GRCm39)	S127G	probably damaging	Het
Slc7a4	A	T	16: 17,393,568 (GRCm39)	V77E	probably damaging	Het
Sp8	G	A	12: 118,812,964 (GRCm39)	S273N	possibly damaging	Het
Spag6l	G	T	16: 16,580,921 (GRCm39)	N475K	probably benign	Het
St18	A	G	1: 6,872,913 (GRCm39)	H216R	probably benign	Het
Tcirg1	C	T	19: 3,952,843 (GRCm39)		probably benign	Het
Tmeff1	A	G	4: 48,658,788 (GRCm39)	Y87C	probably damaging	Het
Tmem94	T	C	11: 115,683,726 (GRCm39)	V713A	possibly damaging	Het
Tnrc6b	G	T	15: 80,765,363 (GRCm39)	R955L	probably damaging	Het
Trip12	A	G	1: 84,727,012 (GRCm39)	V1153A	probably damaging	Het
Tshz3	T	C	7: 36,468,800 (GRCm39)	L263S	probably damaging	Het
Tubb6	G	A	18: 67,534,391 (GRCm39)		probably null	Het
Ube3a	T	C	7: 58,926,127 (GRCm39)	W302R	probably damaging	Het
Vcpkmt	A	T	12: 69,629,519 (GRCm39)	V81E	probably damaging	Het
Vmn1r175	T	A	7: 23,508,466 (GRCm39)	I54F	possibly damaging	Het
Vwa8	T	A	14: 79,258,075 (GRCm39)	N741K	probably benign	Het
Yeats2	A	G	16: 20,033,176 (GRCm39)	T1034A	probably benign	Het
Zc3h6	G	A	2: 128,839,715 (GRCm39)	R176Q	probably damaging	Het
Zfp207	T	A	11: 80,286,253 (GRCm39)	Y424*	probably null	Het
Zfp729a	A	G	13: 67,767,676 (GRCm39)	V851A	probably benign	Het
Zkscan1	G	T	5: 138,099,625 (GRCm39)	A450S	probably benign	Het
Zkscan3	A	G	13: 21,580,616 (GRCm39)	V24A	possibly damaging	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
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'- CTTGCGCAACTCACTGAAGC -3'
(R):5'- AGTGGGTTGCAGTTCCTCAG -3'

Sequencing Primer
(F):5'- TCACGTGGAGTCCGCTTTACAG -3'
(R):5'- TGCAGTTCCTCAGGACTTAAGCAG -3'

Posted On

2014-07-14