Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00490:Ptger2'

4210

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptger2

Ensembl Gene

ENSMUSG00000037759

Gene Name

prostaglandin E receptor 2 (subtype EP2)

Synonyms

EP2 receptor, Ptgerep2, EP2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00490

Quality Score

Status

Chromosome

Chromosomal Location

44988195-45003820 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 45001741 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038483 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046891]

Predicted Effect

probably benign
Transcript: ENSMUST00000046891

SMART Domains

Protein: ENSMUSP00000038483
Gene: ENSMUSG00000037759

Domain	Start	End	E-Value	Type
low complexity region	35	53	N/A	INTRINSIC
Pfam:7tm_1	57	315	5e-26	PFAM
Pfam:7TM_GPCR_Srx	65	243	7.4e-7	PFAM
Pfam:7TM_GPCR_Srsx	66	319	1.2e-7	PFAM
low complexity region	338	356	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168000

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for prostaglandin E2, a metabolite of arachidonic acid which has different biologic activities in a wide range of tissues. Mutations in this gene are associated with aspirin-induced susceptibility to asthma. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes for one targeted null mutation exhibit increased blood pressure when fed a high-salt diet. Female mutants for 2 null alleles have small litters due to impaired ovulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	A	G	4: 130,011,872	E837G	possibly damaging	Het
Atp13a3	A	G	16: 30,352,354	M291T	probably benign	Het
Coq8b	C	A	7: 27,257,477	H518Q	probably benign	Het
Crebrf	A	G	17: 26,743,093	D388G	probably damaging	Het
Cyp2d10	A	T	15: 82,403,314	S244T	possibly damaging	Het
Ddr2	A	T	1: 170,005,194	L99H	probably damaging	Het
Dennd1a	G	T	2: 37,801,152	D251E	probably damaging	Het
Fam210a	G	T	18: 68,268,912	T210N	probably damaging	Het
Gigyf2	C	A	1: 87,436,850	Q951K	probably damaging	Het
Gramd1b	T	A	9: 40,310,041	I280F	probably damaging	Het
Gsdmc3	T	A	15: 63,859,677	K335N	probably benign	Het
Loxhd1	A	T	18: 77,431,074	T993S	possibly damaging	Het
Mfsd6	A	G	1: 52,708,254	L484P	probably damaging	Het
Myt1l	T	A	12: 29,827,424	V358E	unknown	Het
Mzt1	A	G	14: 99,040,670		probably benign	Het
Nrxn2	C	A	19: 6,473,593	H514Q	possibly damaging	Het
Nup214	G	A	2: 32,033,979	E2K	probably damaging	Het
Pcdhb4	G	T	18: 37,309,916	G760W	possibly damaging	Het
Serpinb1c	T	C	13: 32,883,975	K213E	probably damaging	Het
Smcr8	T	A	11: 60,778,632		probably null	Het
Spef2	A	T	15: 9,740,535	D46E	probably damaging	Het
Tbc1d32	G	A	10: 56,155,765	P689L	probably damaging	Het
Tep1	C	A	14: 50,833,473	W2123L	probably damaging	Het
Thg1l	T	C	11: 45,954,221	E8G	probably benign	Het
Tmem236	A	G	2: 14,219,378	Y326C	probably damaging	Het
Trip4	C	T	9: 65,833,410	G573R	probably damaging	Het
Trrap	C	T	5: 144,825,225	T2320I	probably benign	Het
Tsnaxip1	A	G	8: 105,842,184	N435S	probably damaging	Het
Ube3a	A	G	7: 59,272,110	N77D	probably damaging	Het
Uvrag	A	T	7: 98,979,741	I373N	probably damaging	Het

Other mutations in Ptger2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03127:Ptger2	APN	14	45002005	utr 3 prime	probably benign
R0533:Ptger2	UTSW	14	44988982	missense	possibly damaging	0.90
R0720:Ptger2	UTSW	14	44989133	missense	probably benign
R0973:Ptger2	UTSW	14	44989500	missense	probably damaging	1.00
R1643:Ptger2	UTSW	14	44988966	start codon destroyed	probably null	0.98
R1737:Ptger2	UTSW	14	45001771	missense	probably benign	0.04
R2281:Ptger2	UTSW	14	44989650	missense	probably damaging	1.00
R3846:Ptger2	UTSW	14	44989327	missense	probably damaging	1.00
R4623:Ptger2	UTSW	14	44989014	missense	possibly damaging	0.91
R4735:Ptger2	UTSW	14	45001838	missense	possibly damaging	0.89
R5001:Ptger2	UTSW	14	44989367	missense	probably damaging	1.00
R5438:Ptger2	UTSW	14	44989644	missense	possibly damaging	0.47
R5613:Ptger2	UTSW	14	44989503	missense	possibly damaging	0.88
R5767:Ptger2	UTSW	14	44989142	missense	probably benign	0.01
R7405:Ptger2	UTSW	14	44989074	missense	probably damaging	1.00
Z1177:Ptger2	UTSW	14	44989021	nonsense	probably null

Posted On

2012-04-20