Mutagenetix > Incidental Mutation

Incidental Mutation 'R1368:Ptgdr'

155897

Institutional Source

Beutler Lab

Gene Symbol

Ptgdr

Ensembl Gene

ENSMUSG00000071489

Gene Name

prostaglandin D receptor

Synonyms

MMRRC Submission

039433-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1368 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45088692-45096832 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45090799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 320 (I320F)

Ref Sequence

ENSEMBL: ENSMUSP00000093653 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095959]

AlphaFold

P70263

Predicted Effect

probably damaging
Transcript: ENSMUST00000095959
AA Change: I320F

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

SMART Domains

Protein: ENSMUSP00000093653
Gene: ENSMUSG00000071489
AA Change: I320F

Domain	Start	End	E-Value	Type
low complexity region	22	46	N/A	INTRINSIC
Pfam:7tm_1	54	319	1.1e-18	PFAM

Meta Mutation Damage Score

0.3575

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein is reported to be a receptor for prostaglandin D2, which is a mediator of allergic inflammation and allergic airway inflammation in asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display a reduced inflammatory response to airborn allergens and reduced susceptibility to passive cutaneous anaphylaxis induced by IgE antigen challenge due to impaired mast cell degranulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,241,836 (GRCm39)	D1233G	probably benign	Het
Abcc8	G	A	7: 45,772,284 (GRCm39)	R832W	probably damaging	Het
Atp10b	A	G	11: 43,092,981 (GRCm39)	T439A	probably damaging	Het
Brd10	C	A	19: 29,693,796 (GRCm39)	S1966I	probably damaging	Het
C130073F10Rik	T	A	4: 101,747,953 (GRCm39)	N74Y	possibly damaging	Het
Cct8	G	A	16: 87,288,200 (GRCm39)	S124L	probably damaging	Het
Cdh9	T	A	15: 16,848,568 (GRCm39)		probably benign	Het
Cep290	C	T	10: 100,330,828 (GRCm39)		probably benign	Het
Chrng	T	A	1: 87,133,575 (GRCm39)	L10H	probably damaging	Het
Cnn3	T	C	3: 121,250,786 (GRCm39)	L189S	probably benign	Het
Cog4	A	G	8: 111,585,157 (GRCm39)		probably benign	Het
Cxcl12	A	G	6: 117,153,111 (GRCm39)		probably benign	Het
Eif2b2	G	A	12: 85,270,230 (GRCm39)	A257T	probably damaging	Het
Entrep2	A	T	7: 64,469,625 (GRCm39)	V41E	probably damaging	Het
Fanca	G	A	8: 124,031,020 (GRCm39)		probably benign	Het
Fcgbpl1	A	G	7: 27,858,903 (GRCm39)	Q2341R	possibly damaging	Het
Fktn	G	A	4: 53,734,880 (GRCm39)	G173R	probably damaging	Het
Gabbr2	T	C	4: 46,674,464 (GRCm39)	N841S	probably benign	Het
Gm5622	T	A	14: 51,899,647 (GRCm39)	V167E	possibly damaging	Het
Gnaq	T	C	19: 16,355,651 (GRCm39)	V289A	probably benign	Het
Gpatch2l	T	G	12: 86,307,439 (GRCm39)	D272E	possibly damaging	Het
Gzmg	G	A	14: 56,395,263 (GRCm39)	T74I	probably benign	Het
Ikzf2	G	A	1: 69,578,474 (GRCm39)	A271V	possibly damaging	Het
Lig4	T	C	8: 10,021,176 (GRCm39)	D868G	possibly damaging	Het
Mfsd6	T	C	1: 52,747,764 (GRCm39)	E367G	possibly damaging	Het
Mpz	T	C	1: 170,987,533 (GRCm39)	L223P	probably damaging	Het
Muc17	T	C	5: 137,175,674 (GRCm39)		probably benign	Het
Or2f1b	C	A	6: 42,739,613 (GRCm39)	T209K	possibly damaging	Het
Pdcd2	G	T	17: 15,746,846 (GRCm39)	N104K	probably damaging	Het
Pigg	G	T	5: 108,465,154 (GRCm39)	G129V	probably damaging	Het
Ppp3cc	T	C	14: 70,483,311 (GRCm39)	Y254C	probably damaging	Het
Prl3b1	G	A	13: 27,427,848 (GRCm39)	A53T	probably benign	Het
Psg23	A	G	7: 18,348,645 (GRCm39)	V54A	probably benign	Het
Psmd3	A	G	11: 98,573,746 (GRCm39)	D64G	probably damaging	Het
Psmg2	CTTCAGTT	CTTCAGTTCAGTT	18: 67,779,095 (GRCm39)		probably null	Het
Rad50	T	A	11: 53,574,072 (GRCm39)	K722*	probably null	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rgs9	G	A	11: 109,138,977 (GRCm39)	S255L	probably benign	Het
Ror1	C	T	4: 100,298,334 (GRCm39)	P569L	possibly damaging	Het
Rsad2	T	C	12: 26,497,147 (GRCm39)		probably null	Het
Scn8a	A	G	15: 100,933,422 (GRCm39)	D1501G	probably damaging	Het
Sema3c	A	G	5: 17,883,330 (GRCm39)	T313A	possibly damaging	Het
Serpinc1	T	A	1: 160,821,094 (GRCm39)	F59L	probably damaging	Het
Sike1	A	G	3: 102,903,500 (GRCm39)	D63G	possibly damaging	Het
Slc25a11	T	A	11: 70,536,352 (GRCm39)		probably null	Het
Slc32a1	A	G	2: 158,453,240 (GRCm39)	M27V	probably benign	Het
Smc5	A	G	19: 23,187,807 (GRCm39)	V1003A	probably damaging	Het
Tll2	G	A	19: 41,108,667 (GRCm39)	R328C	probably damaging	Het
Topaz1	A	G	9: 122,577,315 (GRCm39)	E75G	possibly damaging	Het
Tspan3	A	T	9: 56,054,783 (GRCm39)	V48E	probably benign	Het
Ugt1a6b	T	C	1: 88,035,358 (GRCm39)	I232T	probably benign	Het
Unc79	A	G	12: 103,122,772 (GRCm39)	K2290E	probably damaging	Het
Vmn1r19	T	C	6: 57,381,656 (GRCm39)	F70L	probably benign	Het

Other mutations in Ptgdr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02548:Ptgdr	APN	14	45,096,071 (GRCm39)	missense	probably damaging	1.00
R1036:Ptgdr	UTSW	14	45,096,572 (GRCm39)	missense	probably damaging	0.98
R1649:Ptgdr	UTSW	14	45,095,959 (GRCm39)	missense	probably benign
R1785:Ptgdr	UTSW	14	45,096,036 (GRCm39)	nonsense	probably null
R1786:Ptgdr	UTSW	14	45,096,036 (GRCm39)	nonsense	probably null
R1921:Ptgdr	UTSW	14	45,090,738 (GRCm39)	missense	probably benign	0.00
R2312:Ptgdr	UTSW	14	45,096,619 (GRCm39)	missense	probably damaging	1.00
R4867:Ptgdr	UTSW	14	45,096,253 (GRCm39)	missense	probably damaging	1.00
R5198:Ptgdr	UTSW	14	45,096,300 (GRCm39)	missense	probably damaging	1.00
R6917:Ptgdr	UTSW	14	45,096,067 (GRCm39)	missense	possibly damaging	0.81
R7186:Ptgdr	UTSW	14	45,096,401 (GRCm39)	missense	probably damaging	1.00
R7291:Ptgdr	UTSW	14	45,096,649 (GRCm39)	missense	possibly damaging	0.69
R7399:Ptgdr	UTSW	14	45,095,689 (GRCm39)	splice site	probably null
R7612:Ptgdr	UTSW	14	45,096,094 (GRCm39)	missense	probably damaging	0.98
R7763:Ptgdr	UTSW	14	45,096,535 (GRCm39)	missense	probably damaging	0.99
R7850:Ptgdr	UTSW	14	45,090,828 (GRCm39)	missense	probably benign	0.05
R8139:Ptgdr	UTSW	14	45,096,142 (GRCm39)	missense	probably benign	0.13
R8262:Ptgdr	UTSW	14	45,090,858 (GRCm39)	missense	probably benign	0.01
R8392:Ptgdr	UTSW	14	45,096,379 (GRCm39)	missense	probably damaging	1.00
R8992:Ptgdr	UTSW	14	45,096,181 (GRCm39)	missense	probably damaging	1.00
R9359:Ptgdr	UTSW	14	45,090,715 (GRCm39)	missense
R9403:Ptgdr	UTSW	14	45,090,715 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TTTTCCAAGCACGGCTCTTTGAATG -3'
(R):5'- CTGAGAATGCAGAACAGCCCTGAG -3'

Sequencing Primer
(F):5'- AATGTGTGCTGTATTTTCAGCTTATC -3'
(R):5'- TCAGCCATAGGGTGAGAATTCC -3'

Posted On

2014-02-11