Mutagenetix > Incidental Mutation

Incidental Mutation 'R6345:S1pr3'

514123

Institutional Source

Beutler Lab

Gene Symbol

S1pr3

Ensembl Gene

ENSMUSG00000067586

Gene Name

sphingosine-1-phosphate receptor 3

Synonyms

LPb3, S1P3, Edg3

MMRRC Submission

044499-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51562675-51576833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 51573068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 83 (A83D)

Ref Sequence

ENSEMBL: ENSMUSP00000085293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087978]

AlphaFold

Q9Z0U9

Predicted Effect

probably damaging
Transcript: ENSMUST00000087978
AA Change: A83D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085293
Gene: ENSMUSG00000067586
AA Change: A83D

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	51	313	1.8e-12	PFAM
Pfam:7tm_1	57	298	8.8e-39	PFAM
low complexity region	334	350	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222417

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

100% (61/61)

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 gene product functions in endothelial cells and is involved in vascular and heart development. The gene product mediates HDL and HDL-associated lysophospholipid-induced vasorelaxation, and it coordinates with other lysophospholipid receptors in the process of angiogenesis. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype although litter sizes are reduced. Susceptibility to pulmonary edema is also reduced. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,061,913 (GRCm39)	I121T	probably benign	Het
4921524L21Rik	T	A	18: 6,626,399 (GRCm39)	M137K	possibly damaging	Het
Angpt4	C	A	2: 151,771,354 (GRCm39)	N223K	probably benign	Het
Ankrd6	T	C	4: 32,810,266 (GRCm39)	R437G	probably damaging	Het
Atp9a	C	T	2: 168,518,093 (GRCm39)	S264N	probably damaging	Het
AY358078	A	C	14: 52,063,749 (GRCm39)	Y465S	probably damaging	Het
Bin3	G	A	14: 70,374,676 (GRCm39)	R235Q	probably benign	Het
Bsn	G	A	9: 107,984,554 (GRCm39)	P3167S	unknown	Het
Camk2g	G	A	14: 20,787,443 (GRCm39)	R274C	probably damaging	Het
Ccdc61	A	T	7: 18,643,914 (GRCm39)		probably null	Het
Ccnjl	A	T	11: 43,476,165 (GRCm39)	T263S	probably benign	Het
Col17a1	G	T	19: 47,641,818 (GRCm39)	P944T	possibly damaging	Het
Cyp2c39	A	T	19: 39,501,615 (GRCm39)		probably null	Het
Cyp2c39	G	T	19: 39,501,616 (GRCm39)		probably null	Het
Cyp4a32	T	C	4: 115,459,560 (GRCm39)	V98A	possibly damaging	Het
Dnah9	A	G	11: 65,928,519 (GRCm39)	V2050A	probably damaging	Het
F5	A	G	1: 164,019,520 (GRCm39)	N665S	probably benign	Het
Fbxl6	A	T	15: 76,420,054 (GRCm39)	C520S	probably damaging	Het
Fscn2	C	A	11: 120,252,853 (GRCm39)	H107N	probably damaging	Het
Gfm2	C	T	13: 97,299,461 (GRCm39)	T367M	probably damaging	Het
Gle1	C	G	2: 29,826,127 (GRCm39)	P69A	probably benign	Het
Gpr156	A	T	16: 37,807,881 (GRCm39)	D176V	probably damaging	Het
Grip2	A	G	6: 91,742,369 (GRCm39)	S895P	possibly damaging	Het
Hfm1	C	T	5: 106,989,504 (GRCm39)	G1404D	probably benign	Het
Ifit1bl1	G	A	19: 34,571,570 (GRCm39)	R296*	probably null	Het
Ighv1-39	C	T	12: 114,878,479 (GRCm39)	V31M	possibly damaging	Het
Itgav	A	G	2: 83,632,380 (GRCm39)	E956G	probably damaging	Het
Katnip	C	A	7: 125,352,159 (GRCm39)	D26E	probably damaging	Het
Lsm8	A	G	6: 18,853,644 (GRCm39)	D86G	probably damaging	Het
Mdh1b	T	G	1: 63,754,398 (GRCm39)	H390P	possibly damaging	Het
Mtrf1l	A	T	10: 5,767,468 (GRCm39)	I216N	possibly damaging	Het
Muc16	G	A	9: 18,566,222 (GRCm39)	T2099I	unknown	Het
Myh7	T	C	14: 55,221,149 (GRCm39)	R925G	probably damaging	Het
Myo1h	T	A	5: 114,489,769 (GRCm39)	I658N	probably damaging	Het
Myo5a	A	T	9: 75,097,195 (GRCm39)	D81V	possibly damaging	Het
Nell1	G	A	7: 49,625,171 (GRCm39)	C12Y	possibly damaging	Het
Obscn	T	C	11: 58,944,522 (GRCm39)	Y4724C	probably damaging	Het
Or8k53	A	G	2: 86,177,892 (GRCm39)	Y73H	probably damaging	Het
Pah	G	A	10: 87,412,049 (GRCm39)	D315N	probably damaging	Het
Per2	A	G	1: 91,376,444 (GRCm39)	V143A	probably damaging	Het
Plcxd1	T	C	5: 110,248,165 (GRCm39)	V38A	probably benign	Het
Pld1	A	G	3: 28,184,896 (GRCm39)		probably benign	Het
Plekhh2	A	G	17: 84,883,215 (GRCm39)	N761S	probably benign	Het
Polh	T	C	17: 46,493,664 (GRCm39)	I318V	probably benign	Het
Prex1	T	C	2: 166,414,880 (GRCm39)	Q1323R	probably null	Het
Rb1cc1	T	A	1: 6,333,481 (GRCm39)	S1440T	probably benign	Het
Rbm19	G	T	5: 120,265,105 (GRCm39)	W382L	possibly damaging	Het
Rchy1	T	C	5: 92,105,801 (GRCm39)	D49G	probably benign	Het
Ric1	A	G	19: 29,581,485 (GRCm39)	D1402G	probably benign	Het
Selplg	G	A	5: 113,958,210 (GRCm39)	P32L	probably benign	Het
Serpinb9c	T	C	13: 33,333,978 (GRCm39)	R355G	probably damaging	Het
Slx4	G	C	16: 3,808,714 (GRCm39)	Q409E	probably benign	Het
Sntg1	A	C	1: 8,653,508 (GRCm39)	L243R	possibly damaging	Het
Specc1l	G	T	10: 75,084,322 (GRCm39)	D682Y	probably damaging	Het
Spen	C	T	4: 141,198,944 (GRCm39)	V3228I	possibly damaging	Het
Strip1	T	C	3: 107,535,516 (GRCm39)	E69G	probably damaging	Het
Tasp1	C	A	2: 139,793,457 (GRCm39)	V240L	probably damaging	Het
Tdrd9	T	A	12: 112,001,042 (GRCm39)	F787L	probably damaging	Het
Vmn1r228	A	G	17: 20,997,144 (GRCm39)	S125P	probably damaging	Het
Wdhd1	A	G	14: 47,489,379 (GRCm39)	M718T	probably damaging	Het

Other mutations in S1pr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01759:S1pr3	APN	13	51,573,548 (GRCm39)	missense	probably damaging	1.00
IGL01997:S1pr3	APN	13	51,573,751 (GRCm39)	missense	probably damaging	1.00
IGL02270:S1pr3	APN	13	51,573,092 (GRCm39)	missense	probably benign	0.03
R0242:S1pr3	UTSW	13	51,572,938 (GRCm39)	missense	probably benign	0.00
R0242:S1pr3	UTSW	13	51,572,938 (GRCm39)	missense	probably benign	0.00
R0584:S1pr3	UTSW	13	51,573,697 (GRCm39)	missense	probably benign	0.00
R1869:S1pr3	UTSW	13	51,573,952 (GRCm39)	missense	probably benign	0.01
R1870:S1pr3	UTSW	13	51,573,952 (GRCm39)	missense	probably benign	0.01
R2338:S1pr3	UTSW	13	51,573,614 (GRCm39)	missense	possibly damaging	0.76
R5472:S1pr3	UTSW	13	51,573,683 (GRCm39)	missense	probably damaging	1.00
R6006:S1pr3	UTSW	13	51,573,731 (GRCm39)	missense	probably damaging	1.00
R6345:S1pr3	UTSW	13	51,573,067 (GRCm39)	missense	probably damaging	1.00
R6702:S1pr3	UTSW	13	51,573,475 (GRCm39)	missense	probably damaging	1.00
R6703:S1pr3	UTSW	13	51,573,475 (GRCm39)	missense	probably damaging	1.00
R8066:S1pr3	UTSW	13	51,573,955 (GRCm39)	makesense	probably null
R8330:S1pr3	UTSW	13	51,573,173 (GRCm39)	missense	probably damaging	1.00
R8964:S1pr3	UTSW	13	51,573,248 (GRCm39)	missense	probably damaging	0.96
R9341:S1pr3	UTSW	13	51,573,553 (GRCm39)	missense	probably damaging	1.00
R9343:S1pr3	UTSW	13	51,573,553 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGGAAATGACACTCTCCGG -3'
(R):5'- GGCCTCATCTTGATCATGGTCAG -3'

Sequencing Primer
(F):5'- TCTCCGGGAACATTACGATTACG -3'
(R):5'- CAGGTGTCGCTCAATGGCAATG -3'

Posted On

2018-04-27