Incidental Mutation 'R0392:S1pr5'
| ID |
31761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
S1pr5
|
| Ensembl Gene |
ENSMUSG00000045087 |
| Gene Name |
sphingosine-1-phosphate receptor 5 |
| Synonyms |
S1P5, Edg8, lpB4 |
| MMRRC Submission |
038598-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.360)
|
| Stock # |
R0392 (G1)
|
| Quality Score |
203 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21154213-21159739 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21156277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 50
(I50F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122088]
|
| AlphaFold |
Q91X56 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122088
AA Change: I50F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113843
Gene: ENSMUSG00000045087
AA Change: I50F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
53 |
307 |
9.6e-37 |
PFAM |
|
low complexity region
|
318 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
350 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215491
|
| Meta Mutation Damage Score |
0.2998 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.6%
|
| Validation Efficiency |
100% (31/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The lysosphingolipid sphingosine 1-phosphate (S1P) regulates cell proliferation, apoptosis, motility, and neurite retraction. Its actions may be both intracellular as a second messenger and extracellular as a receptor ligand. S1P and the structurally related lysolipid mediator lysophosphatidic acid (LPA) signal cells through a set of G protein-coupled receptors known as EDG receptors. Some EDG receptors (e.g., EDG1; MIM 601974) are S1P receptors; others (e.g., EDG2; MIM 602282) are LPA receptors.[supplied by OMIM, Mar 2008]
PHENOTYPE: Bone marrow from mice homozygous for a knock-out allele induces impaired NK cell egression from the lymph nodes and bone marrow. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
| Bcan |
T |
A |
3: 87,900,869 (GRCm39) |
K455* |
probably null |
Het |
| Casp12 |
T |
A |
9: 5,348,973 (GRCm39) |
|
probably benign |
Het |
| Ccdc61 |
T |
C |
7: 18,625,027 (GRCm39) |
M504V |
probably benign |
Het |
| Cd53 |
A |
T |
3: 106,670,592 (GRCm39) |
V147E |
probably damaging |
Het |
| Cyp2b13 |
T |
C |
7: 25,785,308 (GRCm39) |
Y226H |
probably benign |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,671 (GRCm39) |
D413G |
probably damaging |
Het |
| Dcbld1 |
T |
C |
10: 52,193,230 (GRCm39) |
I254T |
possibly damaging |
Het |
| Ddx39a |
T |
G |
8: 84,448,366 (GRCm39) |
M206R |
probably damaging |
Het |
| Dgki |
T |
A |
6: 36,977,113 (GRCm39) |
T666S |
probably damaging |
Het |
| Dnaaf8 |
T |
C |
16: 4,795,363 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah7a |
C |
A |
1: 53,543,357 (GRCm39) |
C2271F |
probably damaging |
Het |
| Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,483,610 (GRCm39) |
K133R |
probably benign |
Het |
| Gm11146 |
T |
A |
16: 77,394,054 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
A |
T |
14: 57,733,617 (GRCm39) |
|
probably benign |
Het |
| Ighv10-3 |
A |
G |
12: 114,487,460 (GRCm39) |
|
probably benign |
Het |
| Lamp5 |
T |
C |
2: 135,902,817 (GRCm39) |
S179P |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,907,113 (GRCm39) |
S788P |
probably damaging |
Het |
| Or5m13 |
T |
A |
2: 85,749,106 (GRCm39) |
I279N |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,899,499 (GRCm39) |
W267R |
probably benign |
Het |
| Pafah1b2 |
T |
C |
9: 45,880,151 (GRCm39) |
I175M |
probably benign |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,011 (GRCm39) |
K386E |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,220,660 (GRCm39) |
N2056S |
probably benign |
Het |
| Pold2 |
T |
C |
11: 5,826,776 (GRCm39) |
I53V |
possibly damaging |
Het |
| Rsf1 |
T |
A |
7: 97,328,212 (GRCm39) |
D1071E |
probably benign |
Het |
| Rtp3 |
A |
T |
9: 110,818,621 (GRCm39) |
M20K |
probably damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,262,608 (GRCm39) |
S94P |
probably damaging |
Het |
| Slitrk5 |
G |
A |
14: 111,916,465 (GRCm39) |
V30I |
probably benign |
Het |
| St8sia5 |
G |
A |
18: 77,342,102 (GRCm39) |
V271M |
probably damaging |
Het |
| Sult2b1 |
G |
T |
7: 45,383,062 (GRCm39) |
T240N |
probably damaging |
Het |
|
| Other mutations in S1pr5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:S1pr5
|
APN |
9 |
21,155,512 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01719:S1pr5
|
APN |
9 |
21,155,250 (GRCm39) |
missense |
probably benign |
0.03 |
|
sipho
|
UTSW |
9 |
21,155,425 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0448:S1pr5
|
UTSW |
9 |
21,155,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:S1pr5
|
UTSW |
9 |
21,155,230 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1703:S1pr5
|
UTSW |
9 |
21,155,346 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1850:S1pr5
|
UTSW |
9 |
21,155,425 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2095:S1pr5
|
UTSW |
9 |
21,156,154 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2178:S1pr5
|
UTSW |
9 |
21,155,760 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3082:S1pr5
|
UTSW |
9 |
21,156,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:S1pr5
|
UTSW |
9 |
21,156,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5578:S1pr5
|
UTSW |
9 |
21,155,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7444:S1pr5
|
UTSW |
9 |
21,156,378 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8294:S1pr5
|
UTSW |
9 |
21,156,300 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTAAGGTGGCGCTCTAAAGCAATG -3'
(R):5'- TTTGCACAGTGCTCCAGTGGAC -3'
Sequencing Primer
(F):5'- AGAGGCTCAGCACCGAC -3'
(R):5'- CAGCAGCGACATCTCCG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation