Mutagenetix > Incidental Mutation

Incidental Mutation 'R7445:Ptgs1'

577205

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

045521-MU

Accession Numbers

Essential gene?

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

Stock #

R7445 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36120438-36142284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36135222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 395 (N395K)

Ref Sequence

ENSEMBL: ENSMUSP00000059977 (fasta)

Gene Model

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

AlphaFold

P22437

Predicted Effect

probably benign
Transcript: ENSMUST00000062069
AA Change: N395K

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000059977
Gene: ENSMUSG00000047250
AA Change: N395K

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,962 (GRCm39)	S233T	probably damaging	Het
1700034E13Rik	T	A	18: 52,793,553 (GRCm39)	C29S	probably damaging	Het
Acsbg3	G	A	17: 57,189,973 (GRCm39)	R333Q	possibly damaging	Het
Ank3	A	G	10: 69,827,954 (GRCm39)	T2208A		Het
Ap4s1	T	C	12: 51,785,424 (GRCm39)	L132P	probably damaging	Het
Ascl4	C	T	10: 85,764,364 (GRCm39)	R4C	probably benign	Het
Brd7	A	T	8: 89,088,336 (GRCm39)	Y18N	probably damaging	Het
Cacna2d3	A	G	14: 28,780,575 (GRCm39)	S648P	possibly damaging	Het
Camta1	C	T	4: 151,228,748 (GRCm39)	E695K	possibly damaging	Het
Ccdc28b	A	G	4: 129,516,400 (GRCm39)	F53L	probably benign	Het
Chaf1a	A	G	17: 56,369,170 (GRCm39)	D467G	possibly damaging	Het
Cnnm1	G	A	19: 43,429,260 (GRCm39)	R126H	possibly damaging	Het
Cog5	T	G	12: 31,969,671 (GRCm39)	S730R	possibly damaging	Het
Col11a1	A	T	3: 113,987,578 (GRCm39)	E1374D	unknown	Het
Csmd1	A	G	8: 16,208,268 (GRCm39)	I1229T	possibly damaging	Het
Degs1l	A	G	1: 180,882,577 (GRCm39)	N113S	possibly damaging	Het
Dnajc30	T	C	5: 135,093,232 (GRCm39)	L43P	probably damaging	Het
Eif3f	C	T	7: 108,533,865 (GRCm39)	T76M	unknown	Het
Ermap	G	A	4: 119,045,907 (GRCm39)	T42I	unknown	Het
Gpd1l	C	T	9: 114,749,742 (GRCm39)	G25S	probably damaging	Het
Heatr1	G	T	13: 12,445,919 (GRCm39)	W1632L	possibly damaging	Het
Ice1	T	C	13: 70,744,286 (GRCm39)	D29G		Het
Ipo8	T	C	6: 148,691,315 (GRCm39)	D685G	probably benign	Het
Klra10	T	C	6: 130,252,819 (GRCm39)	T152A	probably benign	Het
Lmntd1	T	A	6: 145,375,693 (GRCm39)	S82C	probably damaging	Het
Maip1	T	C	1: 57,446,190 (GRCm39)	S87P	possibly damaging	Het
Mapkapk2	A	G	1: 131,025,256 (GRCm39)	S3P	unknown	Het
Mei4	A	G	9: 81,772,292 (GRCm39)	Y35C	possibly damaging	Het
Ms4a14	T	G	19: 11,280,336 (GRCm39)	K741Q	probably benign	Het
Mtcl3	T	C	10: 29,072,999 (GRCm39)	S764P	possibly damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ncapg2	A	G	12: 116,382,888 (GRCm39)	I240V	possibly damaging	Het
Ncbp1	T	A	4: 46,149,914 (GRCm39)	M145K	probably damaging	Het
Nmur2	A	G	11: 55,923,766 (GRCm39)	F263L	probably damaging	Het
Ntrk2	A	G	13: 58,994,576 (GRCm39)	E164G	probably benign	Het
Or2ag1	A	G	7: 106,472,549 (GRCm39)	L301S	possibly damaging	Het
Or4c58	T	A	2: 89,674,616 (GRCm39)	T234S	probably damaging	Het
Or6c5b	A	T	10: 129,245,754 (GRCm39)	D173V	probably benign	Het
P3h2	T	A	16: 25,803,815 (GRCm39)	Y317F	probably damaging	Het
Pcmtd1	C	T	1: 7,190,644 (GRCm39)	R38C	probably damaging	Het
Pcyox1	T	C	6: 86,368,661 (GRCm39)	T286A	possibly damaging	Het
Pdxk	T	C	10: 78,283,801 (GRCm39)	D131G	probably benign	Het
Ppl	T	C	16: 4,906,932 (GRCm39)	D1121G	probably damaging	Het
Prkra	T	C	2: 76,463,942 (GRCm39)	D240G	probably benign	Het
Ptprq	A	T	10: 107,426,820 (GRCm39)	Y1572N	probably damaging	Het
Pyroxd1	A	T	6: 142,304,227 (GRCm39)	H326L	probably benign	Het
Rapgef5	A	G	12: 117,719,704 (GRCm39)	D778G	probably benign	Het
Rbm46	T	A	3: 82,771,517 (GRCm39)	E366V	probably damaging	Het
Rnd1	G	T	15: 98,568,550 (GRCm39)	H209Q	probably benign	Het
Rnf122	A	T	8: 31,608,528 (GRCm39)	D32V	possibly damaging	Het
Samd4b	G	A	7: 28,105,881 (GRCm39)	P446S	probably benign	Het
Slco1a5	C	A	6: 142,204,734 (GRCm39)	A187S	possibly damaging	Het
Smarca4	G	A	9: 21,597,543 (GRCm39)	V1436M	probably damaging	Het
Smok2a	G	A	17: 13,445,526 (GRCm39)	G368R	possibly damaging	Het
Smok3c	T	A	5: 138,062,757 (GRCm39)	H81Q	probably damaging	Het
Stk16	T	C	1: 75,190,296 (GRCm39)	V245A	probably damaging	Het
Svep1	A	T	4: 58,094,122 (GRCm39)	N1505K	possibly damaging	Het
Tigd4	G	A	3: 84,502,471 (GRCm39)	A463T	probably benign	Het
Tmem117	T	C	15: 94,612,799 (GRCm39)	F112L	probably benign	Het
Tmem72	A	G	6: 116,675,291 (GRCm39)	I67T	probably benign	Het
Tnik	A	G	3: 28,718,058 (GRCm39)		probably null	Het
Trav14-2	A	G	14: 53,878,515 (GRCm39)	Q66R	probably damaging	Het
Trpv6	T	A	6: 41,598,276 (GRCm39)	D677V	probably damaging	Het
Vgll4	C	T	6: 114,839,157 (GRCm39)	S278N	unknown	Het
Wdfy4	C	T	14: 32,792,575 (GRCm39)	W2157*	probably null	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
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
R9244:Ptgs1	UTSW	2	36,130,724 (GRCm39)	missense	probably damaging	0.96
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'- TGCATTGAGCTCTGCTGAC -3'
(R):5'- TGGGGAGTTTGAACCAAGTC -3'

Sequencing Primer
(F):5'- ATCTTCCCCTTGTAGGAGAAAC -3'
(R):5'- GAACCAAGTCTGTTGTATCCCAGAG -3'

Posted On

2019-10-07