Mutagenetix > Incidental Mutation

Incidental Mutation 'R9244:Ptgs1'

701130

Institutional Source

Beutler Lab

Gene Symbol

Ptgs1

Ensembl Gene

ENSMUSG00000047250

Gene Name

prostaglandin-endoperoxide synthase 1

Synonyms

Pghs1, Cox-1, COX1, cyclooxygenase 1, Cox-3

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.342) question?

Stock #

R9244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36120438-36142284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36130724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 208 (T208A)

Ref Sequence

ENSEMBL: ENSMUSP00000059977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062069]

AlphaFold

P22437

Predicted Effect

probably damaging
Transcript: ENSMUST00000062069
AA Change: T208A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000059977
Gene: ENSMUSG00000047250
AA Change: T208A

Domain	Start	End	E-Value	Type
low complexity region	5	26	N/A	INTRINSIC
EGF	37	72	2.48e1	SMART
low complexity region	172	185	N/A	INTRINSIC
low complexity region	200	214	N/A	INTRINSIC
Pfam:An_peroxidase	221	528	1.5e-46	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: This is one of two genes encoding similar enzymes that catalyze the conversion of arachinodate to prostaglandin. The encoded protein regulates angiogenesis in endothelial cells, and is inhibited by nonsteroidal anti-inflammatory drugs such as aspirin. Based on its ability to function as both a cyclooxygenase and as a peroxidase, the encoded protein has been identified as a moonlighting protein. [provided by RefSeq, Jan 2014]
PHENOTYPE: Null mutants show impaired platelet aggregation, reduced inflammatory responses, and diminished susceptibility to induced papillomas. Female mutants exhibit delayed parturition and their offspring die neonatally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,241,577 (GRCm39)	I1147V	probably benign	Het
Adcy10	A	G	1: 165,370,679 (GRCm39)	T653A	probably benign	Het
App	A	G	16: 84,759,629 (GRCm39)	I656T	probably damaging	Het
Arnt	T	A	3: 95,397,879 (GRCm39)	I574N	possibly damaging	Het
Cdc42	T	C	4: 137,056,391 (GRCm39)	T75A	probably benign	Het
Cdh23	C	A	10: 60,249,442 (GRCm39)	K822N	possibly damaging	Het
Chrnb3	T	A	8: 27,884,594 (GRCm39)	L444I	unknown	Het
Ctnnbl1	G	T	2: 157,678,583 (GRCm39)	K395N	possibly damaging	Het
Dmxl1	T	A	18: 50,026,316 (GRCm39)	I1808K	probably benign	Het
Dnajb8	C	A	6: 88,199,884 (GRCm39)	P140Q	probably damaging	Het
Dock5	G	A	14: 67,996,563 (GRCm39)	R1727W	probably damaging	Het
Dscam	G	A	16: 96,486,429 (GRCm39)	T1082I	possibly damaging	Het
Eaf1	T	C	14: 31,219,766 (GRCm39)		probably benign	Het
Elapor2	A	G	5: 9,460,700 (GRCm39)	Y207C	probably damaging	Het
Enpp3	T	C	10: 24,654,689 (GRCm39)	D663G	probably damaging	Het
Epha5	A	G	5: 84,265,441 (GRCm39)	V451A	probably benign	Het
Erap1	G	A	13: 74,821,903 (GRCm39)		probably null	Het
Esco2	A	G	14: 66,059,088 (GRCm39)	W530R	probably damaging	Het
Fhip1b	A	G	7: 105,038,870 (GRCm39)	V123A	possibly damaging	Het
Fhod3	T	C	18: 25,248,922 (GRCm39)	I1367T	probably damaging	Het
Fryl	T	C	5: 73,348,862 (GRCm39)		probably benign	Het
Get1	A	G	16: 95,955,383 (GRCm39)	T147A	probably benign	Het
Gm42669	A	G	5: 107,656,370 (GRCm39)	T295A	possibly damaging	Het
Harbi1	A	G	2: 91,543,040 (GRCm39)	N167S	probably damaging	Het
Hfm1	A	C	5: 107,022,766 (GRCm39)	N945K	probably damaging	Het
Hook3	A	G	8: 26,561,084 (GRCm39)		probably null	Het
Htr1f	G	T	16: 64,746,857 (GRCm39)	T145K	probably benign	Het
Igf2bp2	A	C	16: 21,886,901 (GRCm39)	S453A	possibly damaging	Het
Ipo4	A	T	14: 55,871,799 (GRCm39)	W116R	probably damaging	Het
Jak1	T	C	4: 101,015,040 (GRCm39)	H917R	probably benign	Het
Klrb1b	A	T	6: 128,792,245 (GRCm39)	C189*	probably null	Het
Lrrn2	A	G	1: 132,865,058 (GRCm39)	Y41C	probably damaging	Het
Lrrn2	T	C	1: 132,865,237 (GRCm39)	S101P	probably damaging	Het
Mcmdc2	C	T	1: 9,985,835 (GRCm39)	T127I	probably damaging	Het
Mtch1	C	A	17: 29,566,626 (GRCm39)	A46S	unknown	Het
Ndufb5	C	A	3: 32,795,906 (GRCm39)	Q33K	probably null	Het
Nufip2	T	C	11: 77,583,475 (GRCm39)	V463A	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2r3	T	A	6: 42,448,537 (GRCm39)	I192F	possibly damaging	Het
Or5p62	A	G	7: 107,771,852 (GRCm39)	I33T	probably benign	Het
Or6d12	G	A	6: 116,492,782 (GRCm39)	V15I	probably benign	Het
Or8j3c	A	T	2: 86,253,423 (GRCm39)	V199E	probably damaging	Het
Pira13	T	C	7: 3,825,226 (GRCm39)	D472G	unknown	Het
Ppip5k1	A	C	2: 121,164,932 (GRCm39)	S972A	probably benign	Het
Prl8a2	A	T	13: 27,534,982 (GRCm39)	M86L	probably benign	Het
Prorsd1	T	C	11: 29,463,271 (GRCm39)	I164V	probably benign	Het
Ptpn3	A	T	4: 57,254,915 (GRCm39)		probably null	Het
Reln	T	C	5: 22,120,151 (GRCm39)	R2834G	probably damaging	Het
Shc4	G	T	2: 125,497,589 (GRCm39)	Y373*	probably null	Het
Skor1	A	T	9: 63,049,524 (GRCm39)		probably null	Het
Slc9a4	T	C	1: 40,658,249 (GRCm39)	S591P	probably damaging	Het
Stat2	A	G	10: 128,118,634 (GRCm39)	E389G	possibly damaging	Het
Trav14n-3	C	A	14: 53,608,004 (GRCm39)	D111E	probably damaging	Het
Unc5c	A	G	3: 141,533,370 (GRCm39)	S873G	probably benign	Het
Vmn1r210	T	C	13: 23,012,089 (GRCm39)	I66V	probably benign	Het
Vmn2r117	T	A	17: 23,696,589 (GRCm39)	I273F	probably damaging	Het
Vmn2r95	T	A	17: 18,672,189 (GRCm39)	M714K	possibly damaging	Het
Zfp235	A	G	7: 23,839,919 (GRCm39)	T113A	probably benign	Het
Zranb1	T	G	7: 132,585,640 (GRCm39)	L696R	probably damaging	Het

Other mutations in Ptgs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Ptgs1	APN	2	36,127,231 (GRCm39)	missense	probably damaging	1.00
IGL02345:Ptgs1	APN	2	36,132,983 (GRCm39)	missense	probably null	0.93
IGL02952:Ptgs1	APN	2	36,141,253 (GRCm39)	missense	probably benign	0.00
IGL03306:Ptgs1	APN	2	36,127,717 (GRCm39)	missense	probably damaging	1.00
PIT4431001:Ptgs1	UTSW	2	36,130,692 (GRCm39)	missense	probably damaging	1.00
R0468:Ptgs1	UTSW	2	36,139,205 (GRCm39)	missense	probably damaging	1.00
R0638:Ptgs1	UTSW	2	36,130,868 (GRCm39)	splice site	probably benign
R1563:Ptgs1	UTSW	2	36,135,214 (GRCm39)	missense	possibly damaging	0.53
R1858:Ptgs1	UTSW	2	36,132,782 (GRCm39)	missense	probably benign	0.19
R2012:Ptgs1	UTSW	2	36,127,668 (GRCm39)	missense	probably benign
R2080:Ptgs1	UTSW	2	36,132,859 (GRCm39)	nonsense	probably null
R2116:Ptgs1	UTSW	2	36,127,708 (GRCm39)	nonsense	probably null
R4073:Ptgs1	UTSW	2	36,127,788 (GRCm39)	missense	probably damaging	1.00
R4163:Ptgs1	UTSW	2	36,141,346 (GRCm39)	missense	possibly damaging	0.87
R4862:Ptgs1	UTSW	2	36,127,267 (GRCm39)	missense	probably damaging	1.00
R5062:Ptgs1	UTSW	2	36,127,294 (GRCm39)	missense	probably damaging	1.00
R5071:Ptgs1	UTSW	2	36,141,272 (GRCm39)	missense	probably damaging	1.00
R5072:Ptgs1	UTSW	2	36,141,272 (GRCm39)	missense	probably damaging	1.00
R5073:Ptgs1	UTSW	2	36,141,272 (GRCm39)	missense	probably damaging	1.00
R5074:Ptgs1	UTSW	2	36,141,272 (GRCm39)	missense	probably damaging	1.00
R5373:Ptgs1	UTSW	2	36,141,198 (GRCm39)	missense	probably damaging	1.00
R5374:Ptgs1	UTSW	2	36,141,198 (GRCm39)	missense	probably damaging	1.00
R5419:Ptgs1	UTSW	2	36,127,234 (GRCm39)	missense	probably damaging	1.00
R5428:Ptgs1	UTSW	2	36,135,280 (GRCm39)	missense	probably benign	0.00
R5918:Ptgs1	UTSW	2	36,141,089 (GRCm39)	missense	probably damaging	1.00
R6134:Ptgs1	UTSW	2	36,141,190 (GRCm39)	missense	probably damaging	1.00
R6181:Ptgs1	UTSW	2	36,141,131 (GRCm39)	missense	probably damaging	1.00
R6240:Ptgs1	UTSW	2	36,127,297 (GRCm39)	missense	probably damaging	1.00
R6979:Ptgs1	UTSW	2	36,141,311 (GRCm39)	missense	probably benign
R7020:Ptgs1	UTSW	2	36,141,041 (GRCm39)	missense	probably damaging	1.00
R7445:Ptgs1	UTSW	2	36,135,222 (GRCm39)	missense	probably benign	0.06
R7557:Ptgs1	UTSW	2	36,135,223 (GRCm39)	missense	possibly damaging	0.92
R7873:Ptgs1	UTSW	2	36,141,292 (GRCm39)	missense	probably damaging	1.00
R8215:Ptgs1	UTSW	2	36,141,179 (GRCm39)	missense	probably damaging	1.00
R9537:Ptgs1	UTSW	2	36,120,739 (GRCm39)	missense	unknown
R9709:Ptgs1	UTSW	2	36,141,204 (GRCm39)	missense	probably damaging	1.00
Z1176:Ptgs1	UTSW	2	36,130,788 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAGTTTGCCTGAGGACTTCTG -3'
(R):5'- CTCCATAAATGTGGCCAAGGTC -3'

Sequencing Primer
(F):5'- ATCCTCAGGGCATGTAGGTAC -3'
(R):5'- TCTACCTGAGGTCAGAGAACGGTC -3'

Posted On

2022-03-25