Mutagenetix > Incidental Mutation

Incidental Mutation 'R9343:S1pr3'

707639

Institutional Source

Beutler Lab

Gene Symbol

S1pr3

Ensembl Gene

ENSMUSG00000067586

Gene Name

sphingosine-1-phosphate receptor 3

Synonyms

LPb3, S1P3, Edg3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9343 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51562675-51576833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 51573553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 245 (V245L)

Ref Sequence

ENSEMBL: ENSMUSP00000085293 (fasta)

Gene Model

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

AlphaFold

Q9Z0U9

Predicted Effect

probably damaging
Transcript: ENSMUST00000087978
AA Change: V245L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000085293
Gene: ENSMUSG00000067586
AA Change: V245L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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 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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat2	T	C	17: 13,167,538 (GRCm39)	N166S	probably damaging	Het
Atp8b2	A	T	3: 89,855,811 (GRCm39)	F446I	possibly damaging	Het
Cacna2d3	A	T	14: 28,704,315 (GRCm39)	M822K	possibly damaging	Het
Caskin1	A	G	17: 24,723,447 (GRCm39)	E745G	probably damaging	Het
Clec4a2	G	T	6: 123,104,955 (GRCm39)	A82S	probably benign	Het
Col5a3	T	C	9: 20,704,909 (GRCm39)	N749S	unknown	Het
Col9a2	T	A	4: 120,911,483 (GRCm39)	M608K	probably benign	Het
Cope	T	C	8: 70,761,228 (GRCm39)		probably null	Het
Dennd2d	T	A	3: 106,397,730 (GRCm39)		probably null	Het
Dpys	T	C	15: 39,656,748 (GRCm39)	T440A	possibly damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbln5	G	A	12: 101,737,551 (GRCm39)	T152I	probably damaging	Het
Gm16503	A	T	4: 147,625,508 (GRCm39)	M1L	unknown	Het
Gm9195	A	G	14: 72,717,500 (GRCm39)	S278P	probably damaging	Het
Hmcn2	A	G	2: 31,279,359 (GRCm39)	N1787S	probably benign	Het
Klhl33	A	G	14: 51,133,903 (GRCm39)		probably null	Het
Lrrk2	A	G	15: 91,584,618 (GRCm39)	D345G	probably benign	Het
Man2b2	A	G	5: 36,975,951 (GRCm39)	L368P	probably damaging	Het
Med23	T	A	10: 24,788,705 (GRCm39)	S1371T	probably benign	Het
Mllt3	T	A	4: 87,792,168 (GRCm39)	E109D	possibly damaging	Het
Myom2	G	A	8: 15,134,633 (GRCm39)	D479N	probably damaging	Het
Or52r1c	A	T	7: 102,735,324 (GRCm39)	R195*	probably null	Het
Pcdhga10	G	T	18: 37,880,532 (GRCm39)	A98S	probably benign	Het
Pde8a	A	T	7: 80,950,427 (GRCm39)	Q221H	probably benign	Het
Pkd1l1	T	C	11: 8,786,399 (GRCm39)	H2335R		Het
Pkd1l1	T	A	11: 8,911,305 (GRCm39)	D324V		Het
Pou2f2	G	A	7: 24,794,277 (GRCm39)	T363I	possibly damaging	Het
Prlr	A	G	15: 10,328,988 (GRCm39)	I488V	probably benign	Het
Psmd2	T	C	16: 20,475,441 (GRCm39)		probably null	Het
Rbm7	T	C	9: 48,400,969 (GRCm39)	D253G	probably damaging	Het
Ros1	A	G	10: 51,972,116 (GRCm39)		probably null	Het
Sacs	A	G	14: 61,446,219 (GRCm39)	D2755G	probably benign	Het
Scgn	T	A	13: 24,173,829 (GRCm39)		probably null	Het
Sh3rf3	A	G	10: 58,966,802 (GRCm39)	K715E	probably damaging	Het
Sox18	T	C	2: 181,312,231 (GRCm39)	E300G	probably damaging	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Spef2	T	A	15: 9,713,190 (GRCm39)	N394I	probably damaging	Het
Strn4	T	C	7: 16,573,827 (GRCm39)	F759L	probably damaging	Het
Tas2r144	A	T	6: 42,193,066 (GRCm39)	I269F	probably benign	Het
Tpcn1	T	C	5: 120,678,737 (GRCm39)	D606G	possibly damaging	Het
Trh	A	G	6: 92,220,823 (GRCm39)	I13T	probably benign	Het
Umodl1	T	C	17: 31,217,701 (GRCm39)	I1169T	possibly damaging	Het
Vwa3b	G	A	1: 37,153,615 (GRCm39)	D486N	probably damaging	Het
Wars2	T	C	3: 99,094,846 (GRCm39)	L47P	probably benign	Het
Zbtb14	A	G	17: 69,695,576 (GRCm39)	S425G	probably damaging	Het
Zdhhc16	T	C	19: 41,926,549 (GRCm39)	S111P	probably benign	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	51,573,068 (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

Predicted Primers

PCR Primer
(F):5'- AGAACTTTCCCGACTGCTC -3'
(R):5'- TTGACTAGACAGCCGCACAC -3'

Sequencing Primer
(F):5'- CGACTGCTCTACCATCTTGC -3'
(R):5'- CCAACCGGAAGAAGGCGC -3'

Posted On

2022-04-18