Mutagenetix > Incidental Mutation

Incidental Mutation 'R5073:Ptgs1'

388939

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

042662-MU

Accession Numbers

Essential gene?

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

Stock #

R5073 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36120438-36142284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36141272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 573 (N573I)

Ref Sequence

ENSEMBL: ENSMUSP00000059977 (fasta)

Gene Model

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

AlphaFold

P22437

Predicted Effect

probably damaging
Transcript: ENSMUST00000062069
AA Change: N573I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059977
Gene: ENSMUSG00000047250
AA Change: N573I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202733

Meta Mutation Damage Score

0.9228

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

100% (113/113)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Adcy8	A	T	15: 64,659,207 (GRCm39)	W528R	probably damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Ahnak	T	A	19: 8,980,595 (GRCm39)	H626Q	probably benign	Het
Ampd2	A	T	3: 107,986,549 (GRCm39)	M245K	probably damaging	Het
Apob	G	A	12: 8,055,219 (GRCm39)		probably null	Het
Apool	C	T	X: 111,259,540 (GRCm39)	Q60*	probably null	Het
Aqp1	A	T	6: 55,322,520 (GRCm39)	I172F	probably damaging	Het
Atp7a	A	G	X: 105,153,374 (GRCm39)	D1092G	probably benign	Het
Bcas3	A	G	11: 85,261,958 (GRCm39)	Y110C	probably damaging	Het
Brpf1	T	C	6: 113,287,215 (GRCm39)	S148P	probably damaging	Het
Capn3	A	G	2: 120,322,301 (GRCm39)	H339R	probably damaging	Het
Ccdc141	A	T	2: 76,954,722 (GRCm39)		probably null	Het
Ccl2	A	G	11: 81,927,984 (GRCm39)		probably benign	Het
Cct8l1	G	A	5: 25,721,881 (GRCm39)	V199I	probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cit	T	A	5: 116,084,902 (GRCm39)	M811K	probably benign	Het
Crim1	T	C	17: 78,588,776 (GRCm39)	C284R	possibly damaging	Het
Cyp2d10	C	T	15: 82,287,954 (GRCm39)	R383H	probably benign	Het
Cyp4a29	A	G	4: 115,104,860 (GRCm39)	T123A	probably benign	Het
Dbndd2	A	G	2: 164,332,224 (GRCm39)		probably benign	Het
Dnaja3	A	T	16: 4,514,289 (GRCm39)	T274S	probably damaging	Het
Dot1l	A	G	10: 80,620,480 (GRCm39)	D514G	possibly damaging	Het
Dysf	A	T	6: 84,114,254 (GRCm39)	K1226M	probably damaging	Het
Eef1akmt1	A	G	14: 57,803,464 (GRCm39)	L30P	probably damaging	Het
Elavl1	A	G	8: 4,351,741 (GRCm39)	M125T	possibly damaging	Het
Eml4	C	A	17: 83,771,006 (GRCm39)	S723R	probably damaging	Het
Fgf15	A	C	7: 144,450,576 (GRCm39)	Y54S	possibly damaging	Het
Fign	A	T	2: 63,810,037 (GRCm39)	L411*	probably null	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fryl	G	A	5: 73,232,110 (GRCm39)	P1550L	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gprasp2	C	T	X: 134,743,346 (GRCm39)	T235I	possibly damaging	Het
H2ab3	T	C	X: 119,222,543 (GRCm39)	T84A	probably damaging	Het
Hal	A	T	10: 93,349,904 (GRCm39)	I555F	probably damaging	Het
Hdac6	A	G	X: 7,811,036 (GRCm39)	F104L	probably damaging	Het
Hibadh	C	T	6: 52,597,079 (GRCm39)	V122M	possibly damaging	Het
Hmga1b	C	T	11: 120,654,012 (GRCm39)	Q100*	probably null	Het
Hydin	A	G	8: 111,265,105 (GRCm39)	N2763D	probably benign	Het
Ifi47	A	G	11: 48,986,361 (GRCm39)	T43A	probably benign	Het
Ifnlr1	A	G	4: 135,432,457 (GRCm39)	T298A	probably benign	Het
Impdh2	G	A	9: 108,440,535 (GRCm39)		probably null	Het
Insr	A	G	8: 3,209,475 (GRCm39)	F1203L	probably damaging	Het
Kcnq4	A	G	4: 120,574,714 (GRCm39)	S117P	probably damaging	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Kif1a	T	C	1: 92,950,227 (GRCm39)	H1400R	probably damaging	Het
Kiss1r	C	A	10: 79,754,596 (GRCm39)	S30*	probably null	Het
Krt222	T	A	11: 99,134,796 (GRCm39)		probably benign	Het
Lekr1	A	T	3: 65,727,215 (GRCm39)		noncoding transcript	Het
Ltn1	A	G	16: 87,224,628 (GRCm39)	V32A	probably damaging	Het
Marchf1	T	A	8: 66,839,020 (GRCm39)	W21R	probably benign	Het
Marchf5	A	G	19: 37,188,207 (GRCm39)	N58S	possibly damaging	Het
Mast4	G	A	13: 102,875,391 (GRCm39)	Q1158*	probably null	Het
Mib2	C	G	4: 155,741,233 (GRCm39)	A535P	probably damaging	Het
Mrtfa	A	G	15: 80,906,627 (GRCm39)	V91A	probably damaging	Het
Msc	C	T	1: 14,824,537 (GRCm39)	V178M	probably benign	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Muc5b	A	T	7: 141,412,999 (GRCm39)	T1982S	unknown	Het
Mvk	A	T	5: 114,591,013 (GRCm39)		probably benign	Het
Myo1a	T	C	10: 127,543,288 (GRCm39)		probably null	Het
Myo6	T	G	9: 80,195,290 (GRCm39)	S887A	probably benign	Het
Myo7a	G	A	7: 97,722,425 (GRCm39)	Q1167*	probably null	Het
Ncald	A	T	15: 37,397,478 (GRCm39)	H67Q	probably damaging	Het
Nmnat1	C	A	4: 149,553,595 (GRCm39)	M172I	probably benign	Het
Nudt1	G	T	5: 140,317,662 (GRCm39)		probably null	Het
Nudt5	T	A	2: 5,869,198 (GRCm39)	H141Q	probably benign	Het
Or1m1	T	C	9: 18,666,118 (GRCm39)	E271G	possibly damaging	Het
Or4e1	T	A	14: 52,701,032 (GRCm39)	M118L	probably damaging	Het
Or8h10	A	T	2: 86,808,666 (GRCm39)	V158D	possibly damaging	Het
Parp14	A	T	16: 35,655,077 (GRCm39)	I1798K	probably damaging	Het
Pcdhga7	A	G	18: 37,849,025 (GRCm39)	D344G	probably damaging	Het
Pck1	A	G	2: 172,998,770 (GRCm39)	T343A	probably benign	Het
Pik3c2g	T	A	6: 139,665,873 (GRCm39)	C65S	probably null	Het
Pilra	A	G	5: 137,833,674 (GRCm39)	F131L	probably damaging	Het
Ppl	A	T	16: 4,906,742 (GRCm39)	S1184R	probably benign	Het
Prmt2	C	T	10: 76,058,390 (GRCm39)	V140I	probably damaging	Het
Prpf38b	A	G	3: 108,818,484 (GRCm39)	F92S	probably damaging	Het
Psmc3	A	G	2: 90,884,915 (GRCm39)		probably benign	Het
Rgs9	C	A	11: 109,118,157 (GRCm39)	A332S	probably benign	Het
Rptor	T	C	11: 119,787,305 (GRCm39)	I1290T	possibly damaging	Het
Slc38a7	C	A	8: 96,568,278 (GRCm39)	R369L	probably damaging	Het
Slc4a2	G	A	5: 24,643,760 (GRCm39)	S855N	probably benign	Het
Slco2a1	G	T	9: 102,923,925 (GRCm39)	L46F	probably damaging	Het
Snrpd3	G	T	10: 75,355,227 (GRCm39)	C20F	possibly damaging	Het
Stab2	A	T	10: 86,699,422 (GRCm39)	I481N	probably benign	Het
Tbc1d9	A	G	8: 83,960,176 (GRCm39)	E143G	probably damaging	Het
Tenm2	T	A	11: 35,959,208 (GRCm39)	T1114S	probably damaging	Het
Tg	A	C	15: 66,607,101 (GRCm39)	M213L	probably benign	Het
Tnc	A	G	4: 63,938,648 (GRCm39)	C64R	probably damaging	Het
Tpd52l1	A	G	10: 31,233,916 (GRCm39)	L79S	probably damaging	Het
Tpp2	C	A	1: 43,993,896 (GRCm39)	S260R	possibly damaging	Het
Tppp2	G	A	14: 52,157,912 (GRCm39)	R119Q	probably benign	Het
Tshz2	A	T	2: 169,804,493 (GRCm39)		probably benign	Het
Tuba8	T	C	6: 121,199,862 (GRCm39)	V182A	probably damaging	Het
Ufl1	A	G	4: 25,254,780 (GRCm39)	Y559H	probably benign	Het
Usp53	A	T	3: 122,727,595 (GRCm39)	S996T	probably benign	Het
Vcam1	A	G	3: 115,918,037 (GRCm39)	V308A	probably damaging	Het
Wdr17	T	A	8: 55,143,271 (GRCm39)		probably null	Het
Wdr6	G	A	9: 108,451,565 (GRCm39)	H773Y	probably damaging	Het
Wnk4	T	G	11: 101,152,014 (GRCm39)	F173V	probably damaging	Het
Xrcc5	T	C	1: 72,378,188 (GRCm39)	Y395H	probably damaging	Het
Zcwpw1	T	A	5: 137,793,781 (GRCm39)	M1K	probably null	Het
Zfp263	A	G	16: 3,564,704 (GRCm39)	R240G	possibly damaging	Het
Zfp652	A	G	11: 95,640,890 (GRCm39)	I272V	possibly 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
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'- TGCTTTAGAGTTCTACCCGGG -3'
(R):5'- TCAGCTCTCACAATGCCAAG -3'

Sequencing Primer
(F):5'- AGAGTTCTACCCGGGGTTGC -3'
(R):5'- TCTCACAATGCCAAGCCACG -3'

Posted On

2016-06-06