Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02345:Ptgs1'

289248

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptgs1

Ensembl Gene

ENSMUSG00000047250

Gene Name

prostaglandin-endoperoxide synthase 1

Synonyms

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.461) question?

Stock #

IGL02345

Quality Score

Status

Chromosome

Chromosomal Location

36230426-36252272 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36242971 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 327 (D327G)

Ref Sequence

ENSEMBL: ENSMUSP00000059977 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000062069
AA Change: D327G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000059977
Gene: ENSMUSG00000047250
AA Change: D327G

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: ENSMUST00000133777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151351

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	G	T	16: 14,396,351	D177Y	possibly damaging	Het
Casc3	T	C	11: 98,827,564		probably benign	Het
Cnga1	C	T	5: 72,605,272	V300I	probably benign	Het
Dcun1d4	A	G	5: 73,511,152	D41G	probably damaging	Het
Dnm1l	T	C	16: 16,329,894	S181G	possibly damaging	Het
Dyrk1a	T	G	16: 94,671,362	S242A	possibly damaging	Het
Fcgbp	T	A	7: 28,071,643		probably benign	Het
Fibcd1	T	C	2: 31,816,592	Y409C	probably damaging	Het
Fig4	A	T	10: 41,267,774	W230R	probably null	Het
Flt1	T	C	5: 147,582,626	S960G	probably benign	Het
Fyb	A	G	15: 6,619,662	S390G	possibly damaging	Het
Gbx2	T	C	1: 89,928,976	T231A	probably benign	Het
Gm16432	G	A	1: 178,015,188	V60I	possibly damaging	Het
Gm5852	T	A	3: 93,727,748		noncoding transcript	Het
Lmo7	T	C	14: 101,887,473	V456A	probably damaging	Het
Mark3	A	G	12: 111,627,107	N191S	probably damaging	Het
Olfr871	C	A	9: 20,213,018	S223Y	possibly damaging	Het
Pik3c2a	C	T	7: 116,405,891	E381K	probably damaging	Het
Pik3r5	A	G	11: 68,492,726	D457G	probably benign	Het
Plcg2	T	C	8: 117,585,180	S404P	probably damaging	Het
Prr16	T	C	18: 51,303,229	F260S	probably damaging	Het
Psd4	T	C	2: 24,401,823		probably null	Het
Rgsl1	C	T	1: 153,804,009		probably null	Het
Spg20	T	A	3: 55,117,726		probably null	Het
Sugp1	A	G	8: 70,043,084		probably benign	Het
Tubgcp3	A	T	8: 12,625,056	I713N	probably damaging	Het
Usp19	A	G	9: 108,493,858	T240A	probably benign	Het
Vash2	A	G	1: 190,978,215	V81A	probably benign	Het
Vmn2r41	T	G	7: 8,138,768	N566H	probably damaging	Het
Wdr31	A	G	4: 62,458,846	I42T	possibly damaging	Het
Zfp292	C	T	4: 34,809,244	V1272I	possibly damaging	Het
Zfp638	C	T	6: 83,984,875	R1899C	probably damaging	Het

Other mutations in Ptgs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Ptgs1	APN	2	36237219	missense	probably damaging	1.00
IGL02952:Ptgs1	APN	2	36251241	missense	probably benign	0.00
IGL03306:Ptgs1	APN	2	36237705	missense	probably damaging	1.00
PIT4431001:Ptgs1	UTSW	2	36240680	missense	probably damaging	1.00
R0468:Ptgs1	UTSW	2	36249193	missense	probably damaging	1.00
R0638:Ptgs1	UTSW	2	36240856	splice site	probably benign
R1563:Ptgs1	UTSW	2	36245202	missense	possibly damaging	0.53
R1858:Ptgs1	UTSW	2	36242770	missense	probably benign	0.19
R2012:Ptgs1	UTSW	2	36237656	missense	probably benign
R2080:Ptgs1	UTSW	2	36242847	nonsense	probably null
R2116:Ptgs1	UTSW	2	36237696	nonsense	probably null
R4073:Ptgs1	UTSW	2	36237776	missense	probably damaging	1.00
R4163:Ptgs1	UTSW	2	36251334	missense	possibly damaging	0.87
R4862:Ptgs1	UTSW	2	36237255	missense	probably damaging	1.00
R5062:Ptgs1	UTSW	2	36237282	missense	probably damaging	1.00
R5071:Ptgs1	UTSW	2	36251260	missense	probably damaging	1.00
R5072:Ptgs1	UTSW	2	36251260	missense	probably damaging	1.00
R5073:Ptgs1	UTSW	2	36251260	missense	probably damaging	1.00
R5074:Ptgs1	UTSW	2	36251260	missense	probably damaging	1.00
R5373:Ptgs1	UTSW	2	36251186	missense	probably damaging	1.00
R5374:Ptgs1	UTSW	2	36251186	missense	probably damaging	1.00
R5419:Ptgs1	UTSW	2	36237222	missense	probably damaging	1.00
R5428:Ptgs1	UTSW	2	36245268	missense	probably benign	0.00
R5918:Ptgs1	UTSW	2	36251077	missense	probably damaging	1.00
R6134:Ptgs1	UTSW	2	36251178	missense	probably damaging	1.00
R6181:Ptgs1	UTSW	2	36251119	missense	probably damaging	1.00
R6240:Ptgs1	UTSW	2	36237285	missense	probably damaging	1.00
R6979:Ptgs1	UTSW	2	36251299	missense	probably benign
R7020:Ptgs1	UTSW	2	36251029	missense	probably damaging	1.00
R7445:Ptgs1	UTSW	2	36245210	missense	probably benign	0.06
R7557:Ptgs1	UTSW	2	36245211	missense	possibly damaging	0.92

Posted On

2015-04-16