Mutagenetix > Incidental Mutation

Incidental Mutation 'R6702:S1pr3'

528830

Institutional Source

Beutler Lab

Gene Symbol

S1pr3

Ensembl Gene

ENSMUSG00000067586

Gene Name

sphingosine-1-phosphate receptor 3

Synonyms

LPb3, Edg3, S1P3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51408639-51422797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51419439 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 219 (I219F)

Ref Sequence

ENSEMBL: ENSMUSP00000085293 (fasta)

Gene Model

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

AlphaFold

Q9Z0U9

Predicted Effect

probably damaging
Transcript: ENSMUST00000087978
AA Change: I219F

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

SMART Domains

Protein: ENSMUSP00000085293
Gene: ENSMUSG00000067586
AA Change: I219F

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

Meta Mutation Damage Score

0.8592

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,621,659	Y66*	probably null	Het
2810474O19Rik	T	A	6: 149,327,878	N807K	probably damaging	Het
Ak3	A	G	19: 29,026,227	V183A	probably damaging	Het
Ano10	G	T	9: 122,259,564	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,671,097		probably null	Het
Brpf3	A	C	17: 28,810,659	N531T	probably benign	Het
Casp2	T	C	6: 42,268,051	V128A	probably benign	Het
Cdcp2	T	C	4: 107,107,086	C378R	probably benign	Het
Cfap54	T	A	10: 92,868,734	D2828V	unknown	Het
Col6a3	T	C	1: 90,779,439	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,258,688	T93A	probably benign	Het
Ddx54	T	A	5: 120,626,503	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,546,227	S56P	probably damaging	Het
Dna2	T	A	10: 62,973,294	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,805,805	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,318,687	F296L	probably benign	Het
Fat1	A	G	8: 44,953,046	T945A	probably benign	Het
Herpud1	T	C	8: 94,392,526		probably null	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Kif26b	C	G	1: 178,917,287	S1649R	possibly damaging	Het
Lamp5	C	G	2: 136,059,563	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,308,068	S290P	probably benign	Het
Map4k1	T	G	7: 29,002,396	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,625,406	C134S	possibly damaging	Het
Myo15	A	G	11: 60,492,992	I1622V	probably benign	Het
Nbea	A	G	3: 56,005,502	Y955H	probably benign	Het
Ndor1	A	G	2: 25,249,890	F142S	possibly damaging	Het
Nynrin	A	G	14: 55,864,478	T535A	possibly damaging	Het
Olfr1176	G	A	2: 88,340,242	V226I	probably benign	Het
Olfr1290	T	A	2: 111,490,109		probably null	Het
Olfr205	C	T	16: 59,328,598	V304I	probably benign	Het
Olfr727	A	G	14: 50,127,231	Y218C	probably damaging	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,444,775	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,341,906	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Per2	C	T	1: 91,427,949	E696K	probably damaging	Het
Pld4	T	C	12: 112,765,051	S213P	probably damaging	Het
Prkg1	T	A	19: 30,993,084	H209L	probably benign	Het
Psg16	T	C	7: 17,090,396	L35P	probably damaging	Het
Pxn	C	T	5: 115,551,896	L160F	probably benign	Het
Rab3a	A	G	8: 70,756,448	D77G	probably damaging	Het
Rgma	A	T	7: 73,417,320	T108S	probably damaging	Het
Rxrg	A	G	1: 167,613,805	S51G	probably benign	Het
Sec23b	A	T	2: 144,559,189		probably null	Het
Sfrp5	G	T	19: 42,201,827	T62K	probably benign	Het
Slco1a6	T	A	6: 142,103,100	Y318F	probably damaging	Het
Slit1	A	C	19: 41,614,870	S931A	possibly damaging	Het
Sorl1	A	T	9: 42,071,201	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,684,387	S209P	probably benign	Het
Supt6	C	A	11: 78,231,800	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,659,384	M234R	probably benign	Het
Tmem72	C	G	6: 116,698,349	V61L	probably benign	Het
Trpm5	C	A	7: 143,069,318		probably benign	Het
Ttn	T	G	2: 76,720,112	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210		probably benign	Het
Ubr3	A	T	2: 69,956,049	R836W	probably benign	Het
Umodl1	A	G	17: 30,986,299		probably null	Het
Ythdf1	A	G	2: 180,919,133		probably null	Het
Zfp780b	T	C	7: 27,971,641	T81A	possibly damaging	Het
Zfp811	T	C	17: 32,797,842	E407G	probably damaging	Het

Other mutations in S1pr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01759:S1pr3	APN	13	51419512	missense	probably damaging	1.00
IGL01997:S1pr3	APN	13	51419715	missense	probably damaging	1.00
IGL02270:S1pr3	APN	13	51419056	missense	probably benign	0.03
R0242:S1pr3	UTSW	13	51418902	missense	probably benign	0.00
R0242:S1pr3	UTSW	13	51418902	missense	probably benign	0.00
R0584:S1pr3	UTSW	13	51419661	missense	probably benign	0.00
R1869:S1pr3	UTSW	13	51419916	missense	probably benign	0.01
R1870:S1pr3	UTSW	13	51419916	missense	probably benign	0.01
R2338:S1pr3	UTSW	13	51419578	missense	possibly damaging	0.76
R5472:S1pr3	UTSW	13	51419647	missense	probably damaging	1.00
R6006:S1pr3	UTSW	13	51419695	missense	probably damaging	1.00
R6345:S1pr3	UTSW	13	51419031	missense	probably damaging	1.00
R6345:S1pr3	UTSW	13	51419032	missense	probably damaging	1.00
R6703:S1pr3	UTSW	13	51419439	missense	probably damaging	1.00
R8066:S1pr3	UTSW	13	51419919	makesense	probably null
R8330:S1pr3	UTSW	13	51419137	missense	probably damaging	1.00
R8964:S1pr3	UTSW	13	51419212	missense	probably damaging	0.96
R9341:S1pr3	UTSW	13	51419517	missense	probably damaging	1.00
R9343:S1pr3	UTSW	13	51419517	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGCCATATGATGCCAACAAG -3'
(R):5'- TCTTGAAGAGGATGGAGCACTC -3'

Sequencing Primer
(F):5'- AAGAAGCACCGCGTGTTC -3'
(R):5'- GGAGCACTCCTTTGCCCTG -3'

Posted On

2018-07-24