Incidental Mutation 'R6571:S1pr1'
| ID |
526231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
S1pr1
|
| Ensembl Gene |
ENSMUSG00000045092 |
| Gene Name |
sphingosine-1-phosphate receptor 1 |
| Synonyms |
S1P1, Edg1, S1P |
| MMRRC Submission |
044695-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6571 (G1)
|
| Quality Score |
220.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
115504082-115508704 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115505452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 381
(S381P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055676]
|
| AlphaFold |
O08530 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055676
AA Change: S381P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000050897
Gene: ENSMUSG00000045092
AA Change: S381P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
56 |
326 |
1.6e-9 |
PFAM |
|
Pfam:7tm_1
|
62 |
311 |
1.7e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000064809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206983
|
| Meta Mutation Damage Score |
0.1778 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
94% (31/33) |
| MGI Phenotype |
FUNCTION: This gene encodes a G-protein-coupled receptor bound by the lysophospholipid, sphingosine 1-phosphate. The gene product functions in endothelial cells and is involved in vascular and heart development. This receptor is highly expressed in T and B lymphocytes, and it plays a role in T cell and B cell export from peripheral lymphoid organs. This protein is bound and downregulated by FTY720, an exogenous immunosuppressant drug studied in mouse disease models for multiple sclerosis in humans. [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygotes for targeted mutations exhibit vascular defects resulting in embryonic hemorrhaging and lethality by embryonic day 14.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
G |
11: 54,216,390 (GRCm39) |
I161V |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,065,187 (GRCm39) |
F24S |
probably benign |
Het |
| Bche |
G |
T |
3: 73,608,824 (GRCm39) |
Q201K |
probably benign |
Het |
| Camsap1 |
A |
T |
2: 25,829,512 (GRCm39) |
D757E |
possibly damaging |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Dab2ip |
T |
C |
2: 35,602,902 (GRCm39) |
S399P |
probably damaging |
Het |
| Fbxo40 |
A |
T |
16: 36,789,668 (GRCm39) |
C481S |
probably damaging |
Het |
| Fn1 |
T |
A |
1: 71,665,349 (GRCm39) |
T923S |
probably damaging |
Het |
| Gm11437 |
T |
C |
11: 84,047,038 (GRCm39) |
D147G |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,937,999 (GRCm39) |
E427G |
probably damaging |
Het |
| Gm6401 |
T |
A |
14: 41,787,452 (GRCm39) |
I125F |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,491,189 (GRCm39) |
|
probably null |
Het |
| Inpp4a |
T |
C |
1: 37,426,839 (GRCm39) |
M600T |
probably damaging |
Het |
| Itgb6 |
T |
C |
2: 60,458,800 (GRCm39) |
E374G |
probably damaging |
Het |
| Lrba |
A |
C |
3: 86,267,367 (GRCm39) |
S1686R |
probably damaging |
Het |
| Map3k4 |
T |
C |
17: 12,461,579 (GRCm39) |
D1200G |
possibly damaging |
Het |
| Mmp25 |
T |
C |
17: 23,858,870 (GRCm39) |
H227R |
probably benign |
Het |
| Or6c38 |
A |
C |
10: 128,928,990 (GRCm39) |
N284K |
probably damaging |
Het |
| Papss2 |
G |
A |
19: 32,629,342 (GRCm39) |
|
probably null |
Het |
| Rasal2 |
T |
A |
1: 156,988,749 (GRCm39) |
R718S |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,620,707 (GRCm39) |
D394G |
probably benign |
Het |
| Rngtt |
T |
A |
4: 33,379,413 (GRCm39) |
D438E |
probably damaging |
Het |
| Septin8 |
A |
G |
11: 53,427,990 (GRCm39) |
E268G |
probably damaging |
Het |
| Slc6a21 |
A |
G |
7: 44,930,303 (GRCm39) |
K234R |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,783,737 (GRCm39) |
|
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,433,752 (GRCm39) |
|
probably benign |
Het |
| Spag5 |
G |
T |
11: 78,212,095 (GRCm39) |
R1041I |
probably damaging |
Het |
| Spata31d1b |
A |
T |
13: 59,865,269 (GRCm39) |
M806L |
probably benign |
Het |
| Tnfrsf18 |
T |
A |
4: 156,112,776 (GRCm39) |
L154* |
probably null |
Het |
| Trib2 |
T |
C |
12: 15,844,060 (GRCm39) |
E194G |
probably damaging |
Het |
| Vmn2r33 |
A |
G |
7: 7,566,668 (GRCm39) |
V148A |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,578,298 (GRCm39) |
R405W |
probably damaging |
Het |
| Zfp747l1 |
T |
C |
7: 126,984,310 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in S1pr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02635:S1pr1
|
APN |
3 |
115,505,739 (GRCm39) |
missense |
probably benign |
|
|
IGL02698:S1pr1
|
APN |
3 |
115,505,746 (GRCm39) |
nonsense |
probably null |
|
|
IGL03038:S1pr1
|
APN |
3 |
115,506,343 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Compatriot
|
UTSW |
3 |
115,505,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Jammed
|
UTSW |
3 |
115,505,452 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
sardines
|
UTSW |
3 |
115,505,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Stau
|
UTSW |
3 |
115,505,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Stuffed
|
UTSW |
3 |
115,505,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:S1pr1
|
UTSW |
3 |
115,505,587 (GRCm39) |
missense |
probably benign |
|
|
R2002:S1pr1
|
UTSW |
3 |
115,506,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5819:S1pr1
|
UTSW |
3 |
115,505,789 (GRCm39) |
nonsense |
probably null |
|
|
R6784:S1pr1
|
UTSW |
3 |
115,505,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7348:S1pr1
|
UTSW |
3 |
115,505,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7493:S1pr1
|
UTSW |
3 |
115,505,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7816:S1pr1
|
UTSW |
3 |
115,505,947 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8088:S1pr1
|
UTSW |
3 |
115,505,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:S1pr1
|
UTSW |
3 |
115,506,298 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8714:S1pr1
|
UTSW |
3 |
115,505,470 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8871:S1pr1
|
UTSW |
3 |
115,505,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:S1pr1
|
UTSW |
3 |
115,505,569 (GRCm39) |
missense |
|
|
|
RF004:S1pr1
|
UTSW |
3 |
115,506,536 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGTGCATTGTTCACAATTACTAC -3'
(R):5'- TGACCAACAAGGAGATGCGC -3'
Sequencing Primer
(F):5'- TACCTACCTACATCATGGTATCACC -3'
(R):5'- GGGCCTTCATCCGGATCGTATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation