Mutagenetix > Incidental Mutation

Incidental Mutation 'R8401:Ptgds'

652174

Institutional Source

Beutler Lab

Gene Symbol

Ptgds

Ensembl Gene

ENSMUSG00000015090

Gene Name

prostaglandin D2 synthase (brain)

Synonyms

L-PGDS, PGD2, Ptgs3

MMRRC Submission

067877-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R8401 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25356721-25360058 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25359669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 6 (M6T)

Ref Sequence

ENSEMBL: ENSMUSP00000015234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015234] [ENSMUST00000114251] [ENSMUST00000114259]

AlphaFold

O09114

Predicted Effect

unknown
Transcript: ENSMUST00000015234
AA Change: M6T

SMART Domains

Protein: ENSMUSP00000015234
Gene: ENSMUSG00000015090
AA Change: M6T

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
Pfam:Lipocalin	40	184	4.2e-35	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000114251
AA Change: M6T

SMART Domains

Protein: ENSMUSP00000109889
Gene: ENSMUSG00000015090
AA Change: M6T

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
Pfam:Lipocalin	40	184	4.2e-35	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000114259
AA Change: M6T

SMART Domains

Protein: ENSMUSP00000109897
Gene: ENSMUSG00000015090
AA Change: M6T

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
Pfam:Lipocalin	40	184	4.2e-35	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glutathione-independent prostaglandin D synthase that catalyzes the conversion of prostaglandin H2 (PGH2) to postaglandin D2 (PGD2). PGD2 functions as a neuromodulator as well as a trophic factor in the central nervous system. PGD2 is also involved in smooth muscle contraction/relaxation and is a potent inhibitor of platelet aggregation. This gene is preferentially expressed in brain. Studies with transgenic mice overexpressing this gene suggest that this gene may be also involved in the regulation of non-rapid eye movement sleep. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one knock-out allele fail to exhibit PGE2- and bicuculline-induced allodynia and exhibit decreased susceptibility to IgE-induced PCA. Mice homozygous for another knock-out allele show normal induction of muscle injury after reperfusion of ischemic skeletal muscle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	T	C	14: 31,467,251 (GRCm39)	Y207C	probably damaging	Het
Ano8	T	C	8: 71,936,011 (GRCm39)	D235G	probably damaging	Het
Atp2b4	T	A	1: 133,659,574 (GRCm39)	I463F	probably damaging	Het
Brca2	T	A	5: 150,475,817 (GRCm39)	I2509N	probably damaging	Het
Brinp3	T	C	1: 146,777,184 (GRCm39)	S544P	probably benign	Het
Chd1	A	G	17: 15,963,473 (GRCm39)	Y824C	probably damaging	Het
Dapk1	T	C	13: 60,870,904 (GRCm39)	V330A	probably benign	Het
Dct	T	C	14: 118,280,615 (GRCm39)	T134A	possibly damaging	Het
Ddx56	T	C	11: 6,214,199 (GRCm39)	D350G	probably damaging	Het
Ddx60	C	T	8: 62,409,277 (GRCm39)	L438F	possibly damaging	Het
Dnah17	T	A	11: 117,915,485 (GRCm39)	K4378M	probably damaging	Het
Drc7	C	T	8: 95,800,763 (GRCm39)	S595F	probably benign	Het
Epb41	C	T	4: 131,702,018 (GRCm39)	R539Q	probably damaging	Het
Foxred2	T	C	15: 77,836,191 (GRCm39)	I389V	probably damaging	Het
Gan	C	A	8: 117,910,242 (GRCm39)	T57K	possibly damaging	Het
Glra3	T	C	8: 56,542,124 (GRCm39)	V289A	probably damaging	Het
Grk1	T	C	8: 13,457,846 (GRCm39)	F249L	probably damaging	Het
Grk6	G	A	13: 55,599,981 (GRCm39)	A258T	possibly damaging	Het
Hars1	T	C	18: 36,904,243 (GRCm39)	N212S	possibly damaging	Het
Ikzf2	C	A	1: 69,578,254 (GRCm39)	Q418H	probably damaging	Het
Ikzf2	T	G	1: 69,578,255 (GRCm39)	Q418P	probably damaging	Het
Klre1	T	A	6: 129,556,989 (GRCm39)	N30K	probably benign	Het
Lama5	G	T	2: 179,840,580 (GRCm39)	D606E	probably damaging	Het
Lca5l	T	C	16: 95,963,760 (GRCm39)	K393R	probably damaging	Het
Lmbrd2	A	T	15: 9,156,294 (GRCm39)	I124F	possibly damaging	Het
Loxhd1	C	A	18: 77,468,156 (GRCm39)	P935T	probably damaging	Het
Nes	T	C	3: 87,885,388 (GRCm39)	S1216P	possibly damaging	Het
Nim1k	A	G	13: 120,174,213 (GRCm39)	L227P	probably damaging	Het
Nkx2-1	C	A	12: 56,579,841 (GRCm39)	L366F	probably damaging	Het
Nol6	C	A	4: 41,119,548 (GRCm39)	R586L	possibly damaging	Het
Ogdh	T	A	11: 6,247,174 (GRCm39)	L66*	probably null	Het
Or2b28	A	T	13: 21,531,997 (GRCm39)	I300L	probably benign	Het
Orm3	A	G	4: 63,274,467 (GRCm39)	S11G	possibly damaging	Het
Pkn3	C	A	2: 29,970,071 (GRCm39)	S126R	probably benign	Het
Pnpla8	T	A	12: 44,335,091 (GRCm39)	D442E	probably damaging	Het
Pop1	A	T	15: 34,508,755 (GRCm39)	T277S	probably damaging	Het
Prkag2	T	C	5: 25,068,868 (GRCm39)	T563A	probably benign	Het
Prkdc	T	A	16: 15,591,477 (GRCm39)	F2652I	possibly damaging	Het
Prok1	A	G	3: 107,144,513 (GRCm39)	I30T	probably benign	Het
Prr9	T	G	3: 92,030,356 (GRCm39)	T95P	possibly damaging	Het
Rnaseh2b	T	A	14: 62,607,938 (GRCm39)	D250E	probably benign	Het
Rundc1	C	T	11: 101,324,383 (GRCm39)	T363M	probably damaging	Het
Ryr2	T	A	13: 11,683,821 (GRCm39)	H3081L	possibly damaging	Het
Setmar	T	C	6: 108,053,124 (GRCm39)	I206T	probably benign	Het
Skic8	A	T	9: 54,635,539 (GRCm39)	S21T	probably benign	Het
Slitrk6	A	G	14: 110,989,453 (GRCm39)	S85P	possibly damaging	Het
Spi1	A	G	2: 90,943,650 (GRCm39)	N65D	probably benign	Het
Stx1b	A	T	7: 127,406,945 (GRCm39)		probably benign	Het
Trav5-4	G	A	14: 53,941,750 (GRCm39)	S41N	probably benign	Het
Tspan14	T	C	14: 40,630,049 (GRCm39)	D260G	probably benign	Het
Ube4a	T	C	9: 44,852,527 (GRCm39)	D645G	possibly damaging	Het
Ush2a	C	T	1: 188,275,062 (GRCm39)	T1845I	probably benign	Het
Vps18	T	C	2: 119,127,973 (GRCm39)	L932P	probably damaging	Het
Zfp62	T	A	11: 49,108,218 (GRCm39)	C770S	probably damaging	Het
Zfp672	T	C	11: 58,207,628 (GRCm39)	K231R	probably benign	Het

Other mutations in Ptgds

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02164:Ptgds	APN	2	25,359,124 (GRCm39)	missense	probably damaging	0.99
IGL03035:Ptgds	APN	2	25,359,622 (GRCm39)	missense	probably benign	0.06
IGL03036:Ptgds	APN	2	25,359,622 (GRCm39)	missense	probably benign	0.06
IGL03117:Ptgds	APN	2	25,359,622 (GRCm39)	missense	probably benign	0.06
IGL03352:Ptgds	APN	2	25,359,622 (GRCm39)	missense	probably benign	0.06
IGL03354:Ptgds	APN	2	25,359,622 (GRCm39)	missense	probably benign	0.06
R0780:Ptgds	UTSW	2	25,358,104 (GRCm39)	missense	possibly damaging	0.90
R0885:Ptgds	UTSW	2	25,357,357 (GRCm39)	missense	possibly damaging	0.80
R4820:Ptgds	UTSW	2	25,359,058 (GRCm39)	missense	probably benign	0.02
R7000:Ptgds	UTSW	2	25,357,828 (GRCm39)	critical splice donor site	probably null
R7522:Ptgds	UTSW	2	25,357,920 (GRCm39)	missense	probably benign	0.38
R9794:Ptgds	UTSW	2	25,359,129 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AGCTAGCTCCCATGCACAAG -3'
(R):5'- ACATCACGAGCCTTCAGTG -3'

Sequencing Primer
(F):5'- ACACAGGCTGACAGTGC -3'
(R):5'- CCTTCAGTGGGCAGTCCTTG -3'

Posted On

2020-10-20