Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4431001:Ptgs1'

555212

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

PIT4431001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36120438-36142284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36130692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 197 (N197I)

Ref Sequence

ENSEMBL: ENSMUSP00000059977 (fasta)

Gene Model

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

AlphaFold

P22437

Predicted Effect

probably damaging
Transcript: ENSMUST00000062069
AA Change: N197I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059977
Gene: ENSMUSG00000047250
AA Change: N197I

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: 93.2%
3x: 90.7%
10x: 84.7%
20x: 71.4%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	A	G	5: 146,439,322 (GRCm39)	I29V	probably benign	Het
5730455P16Rik	C	A	11: 80,254,750 (GRCm39)	C357F	probably damaging	Het
Actr1a	A	T	19: 46,370,731 (GRCm39)		probably null	Het
Adcy1	C	G	11: 7,014,089 (GRCm39)	Q164E	possibly damaging	Het
Arhgap35	A	T	7: 16,295,536 (GRCm39)	S1176R	possibly damaging	Het
Atad2b	A	G	12: 5,081,795 (GRCm39)	T1235A	possibly damaging	Het
Atosb	C	A	4: 43,036,024 (GRCm39)	G236C	probably damaging	Het
Atp8a2	T	C	14: 59,892,075 (GRCm39)	D1091G	probably benign	Het
Bmp6	T	C	13: 38,669,906 (GRCm39)	S397P	probably benign	Het
C3	A	T	17: 57,513,242 (GRCm39)	N1468K	probably benign	Het
Ccnjl	CGCG	CGCGGCG	11: 43,470,534 (GRCm39)		probably benign	Het
Ccr1	T	C	9: 123,764,231 (GRCm39)	I100V	probably benign	Het
Cep162	T	A	9: 87,126,398 (GRCm39)	R171S	probably benign	Het
Chd8	T	C	14: 52,455,706 (GRCm39)	H994R	probably damaging	Het
Cntn3	T	A	6: 102,441,527 (GRCm39)	K6N	probably benign	Het
Cope	A	G	8: 70,765,417 (GRCm39)	E289G	probably damaging	Het
Cpne8	T	G	15: 90,436,178 (GRCm39)	E279A	probably damaging	Het
Cyp11a1	A	T	9: 57,923,555 (GRCm39)		probably null	Het
Dcp2	A	G	18: 44,545,638 (GRCm39)	K333R	probably benign	Het
Dpp6	G	T	5: 27,836,496 (GRCm39)	V329F	probably benign	Het
Drc1	T	A	5: 30,504,417 (GRCm39)	D186E	probably damaging	Het
Dsc2	G	A	18: 20,179,334 (GRCm39)	Q245*	probably null	Het
Eef1e1	T	C	13: 38,842,938 (GRCm39)	E11G	probably damaging	Het
Emilin2	G	A	17: 71,562,990 (GRCm39)	P915S	probably benign	Het
Fpgt	A	G	3: 154,792,422 (GRCm39)	M535T	possibly damaging	Het
Fxyd3	G	A	7: 30,770,780 (GRCm39)	L37F	probably damaging	Het
Gal3st2c	T	A	1: 93,935,834 (GRCm39)	I62N	probably damaging	Het
Gdpd3	T	C	7: 126,365,647 (GRCm39)	I2T	probably benign	Het
Gm9611	T	C	14: 42,115,888 (GRCm39)	M169V		Het
Ints3	G	A	3: 90,303,767 (GRCm39)	T720I	probably damaging	Het
Itpr2	T	G	6: 146,256,218 (GRCm39)	M992L	probably benign	Het
L3mbtl2	T	A	15: 81,560,508 (GRCm39)	H256Q	probably benign	Het
Lama2	T	C	10: 26,977,426 (GRCm39)	T1918A	probably damaging	Het
Lpcat2b	G	A	5: 107,581,997 (GRCm39)	G442D	probably damaging	Het
Lrp1b	C	T	2: 40,894,767 (GRCm39)	V2268M		Het
Macc1	T	C	12: 119,410,246 (GRCm39)	L338P	probably benign	Het
Mtmr2	T	C	9: 13,704,475 (GRCm39)	F201L	probably benign	Het
Mtr	C	T	13: 12,227,329 (GRCm39)	V772M	probably damaging	Het
Mtus2	A	G	5: 148,013,515 (GRCm39)	T103A	probably benign	Het
Myo5c	A	G	9: 75,159,853 (GRCm39)	I294V	possibly damaging	Het
Ncam1	A	T	9: 49,709,993 (GRCm39)	F13I	probably benign	Het
Or4a75	T	C	2: 89,448,201 (GRCm39)	I112V	probably benign	Het
Paqr6	A	T	3: 88,273,084 (GRCm39)	I52F	possibly damaging	Het
Pde2a	T	G	7: 101,151,104 (GRCm39)	V271G	probably damaging	Het
Pde7b	T	C	10: 20,276,291 (GRCm39)	H405R	possibly damaging	Het
Plxnb1	A	G	9: 108,929,786 (GRCm39)	Y214C	probably damaging	Het
Pmp22	T	C	11: 63,042,067 (GRCm39)	F101L	probably benign	Het
Pold1	A	G	7: 44,188,318 (GRCm39)	L520P	probably damaging	Het
Pramel1	A	G	4: 143,124,960 (GRCm39)	T295A	possibly damaging	Het
Psg20	A	T	7: 18,408,475 (GRCm39)	I415N	probably damaging	Het
Ptcd2	T	A	13: 99,476,527 (GRCm39)	R71*	probably null	Het
Rbfox3	T	C	11: 118,386,047 (GRCm39)	D333G	probably damaging	Het
Rfx7	T	A	9: 72,525,253 (GRCm39)	H814Q	probably benign	Het
Rptn	TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG	TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG	3: 93,304,704 (GRCm39)		probably benign	Het
Serpina3i	A	T	12: 104,231,432 (GRCm39)	H23L	probably benign	Het
Sipa1l1	T	A	12: 82,443,290 (GRCm39)	V860E	probably benign	Het
Slc12a1	T	A	2: 125,032,124 (GRCm39)	Y592N	possibly damaging	Het
Slco2a1	T	C	9: 102,927,467 (GRCm39)	F120S	probably damaging	Het
Smyd4	T	C	11: 75,294,339 (GRCm39)	F740S	probably damaging	Het
Sppl2a	T	C	2: 126,765,396 (GRCm39)	Y242C	probably damaging	Het
Sqle	A	G	15: 59,195,509 (GRCm39)	K288R	probably benign	Het
Tbc1d17	A	G	7: 44,494,498 (GRCm39)	S246P	probably benign	Het
Tenm3	G	A	8: 48,688,642 (GRCm39)	T2315M	probably damaging	Het
Tgfb1i1	C	T	7: 127,848,353 (GRCm39)	R191C	probably damaging	Het
Thumpd3	T	A	6: 113,036,939 (GRCm39)	N279K	probably benign	Het
Tmed5	T	A	5: 108,277,887 (GRCm39)	H95L	possibly damaging	Het
Tmem161a	T	C	8: 70,634,674 (GRCm39)	L443P	probably damaging	Het
Ttc38	C	A	15: 85,720,328 (GRCm39)	Q97K	probably benign	Het
Unc13c	C	A	9: 73,656,829 (GRCm39)	C1124F	probably damaging	Het
Vmn2r102	A	G	17: 19,896,958 (GRCm39)	T102A	possibly damaging	Het
Vwce	G	A	19: 10,641,946 (GRCm39)	E891K	possibly damaging	Het
Xkr5	A	T	8: 18,984,361 (GRCm39)	S394T	possibly damaging	Het
Zan	C	T	5: 137,390,326 (GRCm39)	C4747Y	unknown	Het
Zfp804a	T	C	2: 82,089,536 (GRCm39)	F1122L	probably benign	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
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
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'- AGTTTGCCTGAGGACTTCTG -3'
(R):5'- TATCTCCATAAATGTGGCCAAGG -3'

Sequencing Primer
(F):5'- TGAGGACTTCTGGGAGCC -3'
(R):5'- TAAATGTGGCCAAGGTCTACC -3'

Posted On

2019-06-07