Mutagenetix > Incidental Mutation

Incidental Mutation 'R9403:Ptgdr'

711362

Institutional Source

Beutler Lab

Gene Symbol

Ptgdr

Ensembl Gene

ENSMUSG00000071489

Gene Name

prostaglandin D receptor

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45088692-45096832 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45090715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 348 (S348P)

Ref Sequence

ENSEMBL: ENSMUSP00000093653 (fasta)

Gene Model

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

AlphaFold

P70263

Predicted Effect

SMART Domains

Protein: ENSMUSP00000093653
Gene: ENSMUSG00000071489
AA Change: S348P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angpt4	C	T	2: 151,780,892 (GRCm39)	T380M	probably damaging	Het
Apoa5	G	C	9: 46,181,944 (GRCm39)	R340P	probably damaging	Het
Cyp3a41a	T	A	5: 145,639,008 (GRCm39)	Y320F	probably damaging	Het
Dmtf1	A	G	5: 9,171,927 (GRCm39)	L503S	possibly damaging	Het
Dock1	T	C	7: 134,770,125 (GRCm39)	V1795A	probably benign	Het
Dpys	C	G	15: 39,691,467 (GRCm39)	W285S	probably damaging	Het
Fam187b	T	C	7: 30,676,515 (GRCm39)	V8A		Het
Fbn2	T	C	18: 58,199,179 (GRCm39)	E1363G	probably damaging	Het
Glg1	C	T	8: 111,914,425 (GRCm39)	R453Q	probably benign	Het
Gm5591	T	A	7: 38,219,572 (GRCm39)	M434L	probably benign	Het
Gm5591	T	C	7: 38,221,680 (GRCm39)	T130A	probably damaging	Het
Gpld1	G	A	13: 25,163,712 (GRCm39)	V502I	probably benign	Het
Inhba	A	G	13: 16,191,966 (GRCm39)	H29R	probably benign	Het
Itga4	T	A	2: 79,156,004 (GRCm39)	I990N	possibly damaging	Het
Kcnma1	T	A	14: 23,593,145 (GRCm39)	I280L	probably benign	Het
Malrd1	T	C	2: 15,618,988 (GRCm39)	V284A		Het
Maml2	C	T	9: 13,532,969 (GRCm39)	Q728*	probably null	Het
Mkln1	T	C	6: 31,409,905 (GRCm39)	L181P	probably damaging	Het
Mms22l	T	C	4: 24,580,204 (GRCm39)		probably null	Het
Muc16	A	G	9: 18,449,060 (GRCm39)		probably null	Het
Mylk	C	A	16: 34,696,012 (GRCm39)	S249*	probably null	Het
Naa35	G	A	13: 59,748,817 (GRCm39)	A150T	possibly damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nup205	G	A	6: 35,176,909 (GRCm39)	R635H	probably benign	Het
Nup50l	T	G	6: 96,142,280 (GRCm39)	T255P	probably benign	Het
Or2w1	T	C	13: 21,317,865 (GRCm39)	F307L	probably benign	Het
Or4l1	T	C	14: 50,166,906 (GRCm39)	T32A	probably benign	Het
Padi3	T	C	4: 140,537,843 (GRCm39)	I26V	probably benign	Het
Polq	T	C	16: 36,882,215 (GRCm39)	S1460P	probably benign	Het
Qsox1	A	G	1: 155,658,343 (GRCm39)	S409P	probably damaging	Het
Rergl	T	A	6: 139,471,852 (GRCm39)	Y99F	possibly damaging	Het
Rptn	C	A	3: 93,302,349 (GRCm39)	H22N	probably benign	Het
Semp2l2b	C	T	10: 21,943,840 (GRCm39)	D47N	possibly damaging	Het
Sh2b1	ACCAGCTCAGCCACGGGG	ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG	7: 126,066,747 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GGACCAGCTCAG	GGACCAGCTCAGTCACGGTGACCAGCTCAG	7: 126,066,745 (GRCm39)		probably null	Het
Slc2a3	A	C	6: 122,713,569 (GRCm39)	I214M	probably damaging	Het
Slc5a7	A	T	17: 54,583,669 (GRCm39)	N540K	probably benign	Het
Slco6c1	A	T	1: 96,990,248 (GRCm39)	S664R	possibly damaging	Het
Tgm4	C	A	9: 122,881,837 (GRCm39)	S344R	probably damaging	Het
Trim61	T	A	8: 65,467,228 (GRCm39)	Q11L	probably damaging	Het
Trpm6	C	A	19: 18,810,016 (GRCm39)	D1137E	possibly damaging	Het
Txndc2	G	A	17: 65,944,992 (GRCm39)	T395I	probably damaging	Het
Txndc9	T	C	1: 38,034,859 (GRCm39)	E15G	probably benign	Het
Vcpip1	A	G	1: 9,816,049 (GRCm39)	I778T	possibly damaging	Het
Zfp383	T	C	7: 29,614,684 (GRCm39)	F313S	possibly damaging	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
R1368:Ptgdr	UTSW	14	45,090,799 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- CCATCAGGTACAAATGTTGAGAC -3'
(R):5'- GCCTTTAAACTTGAGAACAAAGCTG -3'

Sequencing Primer
(F):5'- GTTCTGGGAATCAAACTCAGGTCC -3'
(R):5'- CTGAAGGAGACTCAGAAGACCTC -3'

Posted On

2022-05-16