Mutagenetix > Incidental Mutation

Incidental Mutation 'R8299:S1pr4'

639144

Institutional Source

Beutler Lab

Gene Symbol

S1pr4

Ensembl Gene

ENSMUSG00000044199

Gene Name

sphingosine-1-phosphate receptor 4

Synonyms

Edg6, lpC1, S1P4

MMRRC Submission

067787-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8299 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81333581-81335966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81335267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 69 (M69T)

Ref Sequence

ENSEMBL: ENSMUSP00000050412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020463] [ENSMUST00000043709] [ENSMUST00000053646] [ENSMUST00000118498]

AlphaFold

Q9Z0L1

Predicted Effect

probably benign
Transcript: ENSMUST00000020463

SMART Domains

Protein: ENSMUSP00000020463
Gene: ENSMUSG00000020238

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
low complexity region	160	172	N/A	INTRINSIC
Pfam:Peptidase_M28	205	421	1.8e-13	PFAM
Pfam:Nicastrin	217	411	2.1e-9	PFAM
transmembrane domain	521	543	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043709

SMART Domains

Protein: ENSMUSP00000049175
Gene: ENSMUSG00000034792

Domain	Start	End	E-Value	Type
G_alpha	22	373	1.22e-188	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000053646
AA Change: M69T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050412
Gene: ENSMUSG00000044199
AA Change: M69T

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
Pfam:7tm_1	66	309	1.2e-32	PFAM
low complexity region	324	337	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118498

SMART Domains

Protein: ENSMUSP00000112744
Gene: ENSMUSG00000020238

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
low complexity region	160	172	N/A	INTRINSIC
Pfam:Peptidase_M28	217	395	3.9e-12	PFAM
Pfam:Nicastrin	217	411	1.5e-10	PFAM
transmembrane domain	520	542	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the G-protein coupled receptor 1 family. The encoded protein is a receptor for the lysophospholipid sphingosine 1-phosphate. The encoded protein is one of the predominant sphingosine 1-phosphate G-protein coupled receptors expressed in T cells, and it plays a role in suppression of T cell proliferation, generation of cytokines, and potentially other aspects of immune activation. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous mutation of this gene results in mid-gestation embryonic lethality. Heterozygotes exhibit decreased prepulse inhibition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	C	A	10: 69,811,981 (GRCm39)	P1216Q	probably damaging	Het
Aspscr1	T	C	11: 120,599,900 (GRCm39)	Y164H		Het
Atp13a3	A	C	16: 30,152,619 (GRCm39)	F1021C	probably damaging	Het
Bcl9	T	C	3: 97,112,852 (GRCm39)	D1201G	probably damaging	Het
Bora	G	A	14: 99,305,570 (GRCm39)	R313Q	probably benign	Het
Cdh19	A	G	1: 110,847,278 (GRCm39)	Y444H	probably benign	Het
Cep70	A	T	9: 99,144,914 (GRCm39)	M87L	possibly damaging	Het
Clstn3	A	G	6: 124,414,332 (GRCm39)		probably null	Het
Cntnap4	G	A	8: 113,500,324 (GRCm39)	G539S	probably damaging	Het
Csf2rb	T	A	15: 78,230,669 (GRCm39)	Y471N	possibly damaging	Het
Dctn4	T	A	18: 60,678,872 (GRCm39)	I197N	probably benign	Het
Ednrb	A	G	14: 104,060,936 (GRCm39)	L163P	probably damaging	Het
Elovl2	T	C	13: 41,345,396 (GRCm39)	N101D	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Etl4	T	A	2: 20,748,874 (GRCm39)	I404K	possibly damaging	Het
Gadd45a	A	G	6: 67,014,183 (GRCm39)		probably null	Het
Gfod2	T	C	8: 106,454,794 (GRCm39)	T29A	probably benign	Het
Hltf	A	G	3: 20,136,986 (GRCm39)	K408E	possibly damaging	Het
Inf2	A	G	12: 112,570,546 (GRCm39)	T362A	probably benign	Het
Klhl12	G	A	1: 134,416,678 (GRCm39)	G467R	probably damaging	Het
Lrrk2	A	T	15: 91,557,443 (GRCm39)		probably benign	Het
Mcee	G	A	7: 64,061,621 (GRCm39)	E29K	unknown	Het
Mki67	A	T	7: 135,306,349 (GRCm39)	I571N	probably damaging	Het
Morc3	T	C	16: 93,650,088 (GRCm39)	Y290H	probably damaging	Het
Mtcl2	T	G	2: 156,862,651 (GRCm39)	E1426A	possibly damaging	Het
Muc4	A	G	16: 32,576,271 (GRCm39)	T1924A	unknown	Het
Myh14	T	A	7: 44,276,472 (GRCm39)	D1170V	probably damaging	Het
Or10al5	G	T	17: 38,062,891 (GRCm39)	E49*	probably null	Het
Or51a6	T	C	7: 102,604,739 (GRCm39)	E30G	probably damaging	Het
Or55b4	T	C	7: 102,133,409 (GRCm39)	H306R	probably benign	Het
Or6c66	T	C	10: 129,461,829 (GRCm39)	I34V	probably benign	Het
Pcdhb17	T	C	18: 37,618,408 (GRCm39)	I66T	probably damaging	Het
Pkhd1l1	T	C	15: 44,445,330 (GRCm39)	V3734A	probably benign	Het
Plcb1	T	C	2: 135,177,396 (GRCm39)	L576P	probably damaging	Het
Plxnc1	T	A	10: 94,663,041 (GRCm39)	N1203Y	probably benign	Het
Pramel16	T	C	4: 143,677,327 (GRCm39)	N84S	probably benign	Het
Prkn	T	G	17: 11,456,408 (GRCm39)	S77R	probably benign	Het
Rev3l	C	T	10: 39,697,537 (GRCm39)	S678L	probably benign	Het
Rims3	T	C	4: 120,746,569 (GRCm39)	Y197H	probably damaging	Het
Sf3a1	T	C	11: 4,129,420 (GRCm39)	Y757H	possibly damaging	Het
Slc30a9	T	A	5: 67,484,248 (GRCm39)	N128K	probably damaging	Het
Slc35a4	T	C	18: 36,815,980 (GRCm39)	V270A	possibly damaging	Het
Speg	A	C	1: 75,364,480 (GRCm39)	D287A	possibly damaging	Het
St18	T	C	1: 6,873,216 (GRCm39)	V317A	probably benign	Het
Stk11	G	T	10: 79,963,867 (GRCm39)	E350D	probably benign	Het
Strn3	A	G	12: 51,694,890 (GRCm39)	L291S	probably damaging	Het
Susd1	C	T	4: 59,315,773 (GRCm39)	V733I	probably benign	Het
Tep1	T	C	14: 51,105,502 (GRCm39)	R173G	probably benign	Het
Tmem115	T	C	9: 107,411,745 (GRCm39)	V23A	possibly damaging	Het
Top2b	A	G	14: 16,386,123 (GRCm38)	N110D	possibly damaging	Het
Wfikkn2	C	T	11: 94,129,890 (GRCm39)	V84M	probably damaging	Het

Other mutations in S1pr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02348:S1pr4	APN	10	81,334,855 (GRCm39)	nonsense	probably null
jam	UTSW	10	81,335,030 (GRCm39)	missense	probably benign	0.02
pickle	UTSW	10	81,334,855 (GRCm39)	nonsense	probably null
R0446:S1pr4	UTSW	10	81,334,823 (GRCm39)	missense	probably damaging	0.98
R1605:S1pr4	UTSW	10	81,335,225 (GRCm39)	splice site	probably null
R1797:S1pr4	UTSW	10	81,335,024 (GRCm39)	missense	probably damaging	1.00
R2504:S1pr4	UTSW	10	81,335,138 (GRCm39)	missense	probably benign	0.01
R2858:S1pr4	UTSW	10	81,335,073 (GRCm39)	missense	probably damaging	1.00
R2943:S1pr4	UTSW	10	81,334,706 (GRCm39)	missense	probably damaging	1.00
R5849:S1pr4	UTSW	10	81,335,157 (GRCm39)	missense	possibly damaging	0.95
R6132:S1pr4	UTSW	10	81,335,030 (GRCm39)	missense	probably benign	0.02
R6235:S1pr4	UTSW	10	81,334,716 (GRCm39)	missense	possibly damaging	0.94
R7511:S1pr4	UTSW	10	81,335,623 (GRCm39)	unclassified	probably benign
R7738:S1pr4	UTSW	10	81,334,341 (GRCm39)	missense	probably benign	0.01
R7740:S1pr4	UTSW	10	81,334,855 (GRCm39)	nonsense	probably null
R7833:S1pr4	UTSW	10	81,334,326 (GRCm39)	missense	possibly damaging	0.95
R8862:S1pr4	UTSW	10	81,334,533 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATACACACGGCTGGTCTTGG -3'
(R):5'- GAACATCAGTACCTGGTCCAC -3'

Sequencing Primer
(F):5'- ATGAAGAGCAGGCCCTCC -3'
(R):5'- AGTACCTGGTCCACGCTGG -3'

Posted On

2020-07-28