Mutagenetix > Incidental Mutation

Incidental Mutation 'R1605:S1pr4'

176414

Institutional Source

Beutler Lab

Gene Symbol

S1pr4

Ensembl Gene

ENSMUSG00000044199

Gene Name

sphingosine-1-phosphate receptor 4

Synonyms

Edg6, lpC1, S1P4

MMRRC Submission

039642-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1605 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

81333581-81335966 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 81335225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112744 (fasta)

Gene Model

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

AlphaFold

Q9Z0L1

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000053646
AA Change: W83*

SMART Domains

Protein: ENSMUSP00000050412
Gene: ENSMUSG00000044199
AA Change: W83*

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 null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150586

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151680

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (75/76)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,506,104 (GRCm39)	K211E	probably damaging	Het
Acot7	A	G	4: 152,291,285 (GRCm39)	I84V	possibly damaging	Het
Ankrd44	A	G	1: 54,867,781 (GRCm39)	V34A	probably benign	Het
Atp4b	A	T	8: 13,443,489 (GRCm39)	M63K	probably damaging	Het
Atr	T	A	9: 95,818,516 (GRCm39)	I2163K	probably damaging	Het
Azgp1	A	T	5: 137,983,426 (GRCm39)	R34*	probably null	Het
Ccdc152	T	G	15: 3,327,603 (GRCm39)	K58T	probably damaging	Het
Ccdc88b	T	A	19: 6,827,837 (GRCm39)	Q912L	probably benign	Het
Cdc42ep5	T	A	7: 4,154,395 (GRCm39)	H131L	probably benign	Het
Chd7	G	A	4: 8,844,675 (GRCm39)	E1595K	probably damaging	Het
Col11a1	G	A	3: 113,925,290 (GRCm39)	G41D	probably damaging	Het
Cyp2b23	C	T	7: 26,385,843 (GRCm39)	V5I	probably benign	Het
D430041D05Rik	A	G	2: 104,085,915 (GRCm39)	V22A	possibly damaging	Het
Ddi1	T	C	9: 6,266,012 (GRCm39)	Y119C	probably benign	Het
Dysf	T	C	6: 84,083,923 (GRCm39)	L785P	probably damaging	Het
Eqtn	T	A	4: 94,816,587 (GRCm39)	T69S	possibly damaging	Het
F11	T	A	8: 45,694,617 (GRCm39)	K581N	probably damaging	Het
Gli2	G	A	1: 118,782,290 (GRCm39)	P172S	probably damaging	Het
Gm7579	G	T	7: 141,765,603 (GRCm39)	C3F	unknown	Het
Grin2a	A	G	16: 9,481,194 (GRCm39)	V501A	possibly damaging	Het
Grk4	G	A	5: 34,831,901 (GRCm39)	D57N	probably damaging	Het
Gsdma	A	T	11: 98,557,319 (GRCm39)	D86V	probably damaging	Het
Gsx1	A	G	5: 147,126,738 (GRCm39)	E187G	probably damaging	Het
Hdac1-ps	A	G	17: 78,799,537 (GRCm39)	D176G	probably damaging	Het
Inpp5k	T	A	11: 75,524,307 (GRCm39)	F75L	probably benign	Het
Itpr1	T	C	6: 108,326,620 (GRCm39)	V114A	possibly damaging	Het
Izumo3	A	T	4: 92,032,977 (GRCm39)	C130S	probably damaging	Het
Mei4	G	A	9: 81,809,639 (GRCm39)	E241K	possibly damaging	Het
Mocs2	T	C	13: 114,961,120 (GRCm39)	V39A	probably benign	Het
Mroh2b	G	A	15: 4,974,572 (GRCm39)	R1184H	probably benign	Het
Msh3	T	C	13: 92,436,783 (GRCm39)	Q509R	probably null	Het
Myh8	T	C	11: 67,192,497 (GRCm39)	W1459R	probably damaging	Het
Mypop	T	A	7: 18,734,918 (GRCm39)		probably benign	Het
Ndc1	C	A	4: 107,225,293 (GRCm39)	T3K	probably damaging	Het
Nf1	A	C	11: 79,331,749 (GRCm39)	M695L	probably benign	Het
Nup50l	A	G	6: 96,141,793 (GRCm39)	M417T	probably benign	Het
Nutm2	C	A	13: 50,623,955 (GRCm39)	D217E	possibly damaging	Het
Or52a20	T	C	7: 103,365,858 (GRCm39)	I19T	probably damaging	Het
Or5b122	A	G	19: 13,562,994 (GRCm39)	T109A	probably benign	Het
Pde6c	C	A	19: 38,129,940 (GRCm39)	D283E	probably damaging	Het
Phldb2	A	G	16: 45,591,142 (GRCm39)		probably benign	Het
Pigt	G	C	2: 164,349,419 (GRCm39)	R574P	probably damaging	Het
Pkd1	T	C	17: 24,796,500 (GRCm39)	I2354T	possibly damaging	Het
Prdm15	T	C	16: 97,640,506 (GRCm39)	E27G	probably damaging	Het
Ptpn14	A	G	1: 189,597,709 (GRCm39)	I1140V	probably benign	Het
Rdx	T	C	9: 51,974,891 (GRCm39)	V9A	probably damaging	Het
Rfx7	T	C	9: 72,519,071 (GRCm39)	S258P	probably damaging	Het
Rnf17	G	T	14: 56,730,822 (GRCm39)	G1209C	probably damaging	Het
Scml2	G	T	X: 160,014,442 (GRCm39)	E566D	possibly damaging	Het
Serpinb1b	T	A	13: 33,277,646 (GRCm39)	V293E	possibly damaging	Het
Serpinb9b	T	C	13: 33,222,112 (GRCm39)		probably null	Het
Sez6l	A	C	5: 112,622,915 (GRCm39)	I212S	probably damaging	Het
Son	T	C	16: 91,454,552 (GRCm39)	S1100P	probably damaging	Het
Spag9	G	A	11: 93,939,365 (GRCm39)	R98H	probably damaging	Het
Spata31e2	A	T	1: 26,723,511 (GRCm39)	H556Q	possibly damaging	Het
St3gal5	T	C	6: 72,119,272 (GRCm39)	L128P	probably benign	Het
Stra6	A	T	9: 58,059,166 (GRCm39)	M510L	probably benign	Het
Stxbp5l	A	G	16: 37,028,473 (GRCm39)	V530A	probably benign	Het
Tatdn1	A	G	15: 58,793,039 (GRCm39)		probably benign	Het
Tbc1d8	A	G	1: 39,430,206 (GRCm39)	S466P	probably benign	Het
Tmem199	A	T	11: 78,399,152 (GRCm39)	M175K	possibly damaging	Het
Trmt12	A	G	15: 58,744,764 (GRCm39)	E54G	probably benign	Het
Usp37	G	T	1: 74,532,163 (GRCm39)	Q77K	possibly damaging	Het
Vezf1	A	G	11: 87,967,125 (GRCm39)	I301V	possibly damaging	Het
Vmn1r34	T	G	6: 66,613,932 (GRCm39)	M269L	probably benign	Het
Wdr93	C	A	7: 79,421,257 (GRCm39)		probably null	Het
Wnk2	T	C	13: 49,214,370 (GRCm39)	D644G	probably damaging	Het
Zc3h13	C	T	14: 75,574,923 (GRCm39)	R1591*	probably null	Het
Zfp131	G	A	13: 120,230,316 (GRCm39)	L371F	probably damaging	Het
Zfp180	T	A	7: 23,804,049 (GRCm39)	V156D	probably benign	Het
Zfp646	G	T	7: 127,479,359 (GRCm39)		probably null	Het
Zscan12	C	A	13: 21,550,813 (GRCm39)	T144K	probably benign	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
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
R8299:S1pr4	UTSW	10	81,335,267 (GRCm39)	missense	probably benign
R8862:S1pr4	UTSW	10	81,334,533 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACAAAAGAGCACATAGCCCTTGGAG -3'
(R):5'- TGCACTACAATCACAGCGGCAG -3'

Sequencing Primer
(F):5'- CACATAGCCCTTGGAGTAGAG -3'
(R):5'- GTGCTGGAGAACGCCAT -3'

Posted On

2014-04-24