Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01666:Ptgdr2'

103303

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptgdr2

Ensembl Gene

ENSMUSG00000034117

Gene Name

prostaglandin D2 receptor 2

Synonyms

PGD2 receptor, Gpr44, Crth2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

IGL01666

Quality Score

Status

Chromosome

Chromosomal Location

10914524-10919875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10918274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 264 (F264L)

Ref Sequence

ENSEMBL: ENSMUSP00000036159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025639] [ENSMUST00000037261]

AlphaFold

Q9Z2J6

Predicted Effect

probably benign
Transcript: ENSMUST00000025639

SMART Domains

Protein: ENSMUSP00000025639
Gene: ENSMUSG00000024732

Domain	Start	End	E-Value	Type
low complexity region	53	64	N/A	INTRINSIC
low complexity region	67	84	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	107	124	N/A	INTRINSIC
low complexity region	127	144	N/A	INTRINSIC
low complexity region	187	201	N/A	INTRINSIC
coiled coil region	338	389	N/A	INTRINSIC
low complexity region	392	400	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037261
AA Change: F264L

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000036159
Gene: ENSMUSG00000034117
AA Change: F264L

Domain	Start	End	E-Value	Type
low complexity region	32	46	N/A	INTRINSIC
Pfam:7tm_1	48	303	7.5e-39	PFAM
low complexity region	339	356	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189018

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 G-protein-coupled receptor that is preferentially expressed in CD4+ effector T helper 2 (Th2) cells. This protein is a prostaglandin D2 receptor that mediates the pro-inflammatory chemotaxis of eosinophils, basophils, and Th2 lymphocytes generated during allergic inflammation. Single nucleotide polymorphisms in the 3' UTR of this gene have been associated with asthma susceptibility.[provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele show enhanced IL-5 production and eosinophil recruitment into the lung in an allergic airway inflammatory model. In contrast, mice homozygous for a second knock-out allele exhibit lower serum IgE levels and reduced IgE-mediated inflammatory responses in skin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	C	A	1: 25,499,832 (GRCm39)	A664S	probably damaging	Het
Ankrd61	T	A	5: 143,827,954 (GRCm39)	L297F	probably damaging	Het
Chrnd	A	T	1: 87,126,458 (GRCm39)	S513C	possibly damaging	Het
Col24a1	G	A	3: 145,050,447 (GRCm39)	V645M	possibly damaging	Het
Csn3	T	C	5: 88,078,016 (GRCm39)	V174A	unknown	Het
D630039A03Rik	C	T	4: 57,910,570 (GRCm39)	V81I	possibly damaging	Het
Deptor	G	A	15: 55,012,775 (GRCm39)	R54Q	probably damaging	Het
Ell	A	G	8: 71,038,463 (GRCm39)	H400R	probably benign	Het
Fcgbpl1	G	A	7: 27,852,717 (GRCm39)	V1335M	probably damaging	Het
Itga2	A	G	13: 114,973,627 (GRCm39)		probably null	Het
Itpr3	A	G	17: 27,336,152 (GRCm39)	I2293V	probably benign	Het
Matcap2	A	G	9: 22,342,994 (GRCm39)	D163G	probably benign	Het
Mmut	T	C	17: 41,269,702 (GRCm39)	L687P	probably damaging	Het
Mrps27	A	G	13: 99,546,324 (GRCm39)	E241G	probably damaging	Het
Myh9	C	T	15: 77,646,131 (GRCm39)	A1951T	probably benign	Het
Oca2	G	A	7: 55,964,559 (GRCm39)		probably null	Het
Or2n1c	C	T	17: 38,519,780 (GRCm39)	L215F	probably benign	Het
Or6d15	T	A	6: 116,559,296 (GRCm39)	I204F	possibly damaging	Het
Ptpn23	T	C	9: 110,215,613 (GRCm39)	T1384A	possibly damaging	Het
Rasgrf2	A	T	13: 92,174,718 (GRCm39)	D170E	probably damaging	Het
Rnf20	C	T	4: 49,654,486 (GRCm39)	Q848*	probably null	Het

Other mutations in Ptgdr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02301:Ptgdr2	APN	19	10,917,573 (GRCm39)	missense	possibly damaging	0.89
R0003:Ptgdr2	UTSW	19	10,917,792 (GRCm39)	missense	probably damaging	1.00
R0003:Ptgdr2	UTSW	19	10,917,792 (GRCm39)	missense	probably damaging	1.00
R1175:Ptgdr2	UTSW	19	10,918,292 (GRCm39)	missense	possibly damaging	0.53
R1405:Ptgdr2	UTSW	19	10,918,395 (GRCm39)	missense	probably benign	0.43
R1405:Ptgdr2	UTSW	19	10,918,395 (GRCm39)	missense	probably benign	0.43
R1448:Ptgdr2	UTSW	19	10,917,857 (GRCm39)	missense	probably damaging	1.00
R2014:Ptgdr2	UTSW	19	10,917,789 (GRCm39)	missense	probably damaging	0.98
R5900:Ptgdr2	UTSW	19	10,918,352 (GRCm39)	splice site	probably null
R6631:Ptgdr2	UTSW	19	10,918,233 (GRCm39)	missense	probably benign	0.07
R7350:Ptgdr2	UTSW	19	10,918,319 (GRCm39)	missense	probably benign	0.00
R8146:Ptgdr2	UTSW	19	10,918,361 (GRCm39)	missense	probably damaging	1.00
R8458:Ptgdr2	UTSW	19	10,917,785 (GRCm39)	missense	possibly damaging	0.50
R8683:Ptgdr2	UTSW	19	10,917,893 (GRCm39)	missense	possibly damaging	0.85
R8818:Ptgdr2	UTSW	19	10,918,380 (GRCm39)	missense	probably damaging	1.00
R8953:Ptgdr2	UTSW	19	10,917,786 (GRCm39)	missense	probably benign	0.16
Z1177:Ptgdr2	UTSW	19	10,917,751 (GRCm39)	missense	probably benign	0.29

Posted On

2014-01-21