Incidental Mutation 'R2858:S1pr4'
ID |
252578 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
S1pr4
|
Ensembl Gene |
ENSMUSG00000044199 |
Gene Name |
sphingosine-1-phosphate receptor 4 |
Synonyms |
Edg6, lpC1, S1P4 |
MMRRC Submission |
040448-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2858 (G1)
|
Quality Score |
126 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
81333581-81335966 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 81335073 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 134
(A134S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050412
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020463]
[ENSMUST00000043709]
[ENSMUST00000053646]
[ENSMUST00000118498]
|
AlphaFold |
Q9Z0L1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020463
|
SMART Domains |
Protein: ENSMUSP00000020463 Gene: ENSMUSG00000020238
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
low complexity region
|
160 |
172 |
N/A |
INTRINSIC |
Pfam:Peptidase_M28
|
205 |
421 |
1.8e-13 |
PFAM |
Pfam:Nicastrin
|
217 |
411 |
2.1e-9 |
PFAM |
transmembrane domain
|
521 |
543 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000043709
|
SMART Domains |
Protein: ENSMUSP00000049175 Gene: ENSMUSG00000034792
Domain | Start | End | E-Value | Type |
G_alpha
|
22 |
373 |
1.22e-188 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053646
AA Change: A134S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000050412 Gene: ENSMUSG00000044199 AA Change: A134S
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
Pfam:7tm_1
|
66 |
309 |
1.2e-32 |
PFAM |
low complexity region
|
324 |
337 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118498
|
SMART Domains |
Protein: ENSMUSP00000112744 Gene: ENSMUSG00000020238
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
low complexity region
|
160 |
172 |
N/A |
INTRINSIC |
Pfam:Peptidase_M28
|
217 |
395 |
3.9e-12 |
PFAM |
Pfam:Nicastrin
|
217 |
411 |
1.5e-10 |
PFAM |
transmembrane domain
|
520 |
542 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147908
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150586
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151680
|
Meta Mutation Damage Score |
0.5963 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (37/37) |
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 encoded protein is one of the predominant sphingosine 1-phosphate G-protein coupled receptors expressed in T cells, and it plays a role in suppression of T cell proliferation, generation of cytokines, and potentially other aspects of immune activation. [provided by RefSeq, Feb 2010] PHENOTYPE: Homozygous mutation of this gene results in mid-gestation embryonic lethality. Heterozygotes exhibit decreased prepulse inhibition. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
T |
A |
5: 107,693,667 (GRCm39) |
F95I |
probably benign |
Het |
Abcg5 |
A |
G |
17: 84,977,648 (GRCm39) |
|
probably null |
Het |
Amfr |
A |
T |
8: 94,731,842 (GRCm39) |
N11K |
probably damaging |
Het |
Bltp3a |
G |
T |
17: 28,104,436 (GRCm39) |
R494L |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
C |
T |
10: 60,218,432 (GRCm39) |
|
probably null |
Het |
Chd4 |
A |
G |
6: 125,081,849 (GRCm39) |
K481R |
probably damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,633,687 (GRCm39) |
Y341C |
probably damaging |
Het |
Ddb2 |
T |
C |
2: 91,047,022 (GRCm39) |
T338A |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,174,599 (GRCm39) |
V2038A |
possibly damaging |
Het |
Fbxo36 |
A |
G |
1: 84,874,316 (GRCm39) |
K104R |
probably benign |
Het |
Fmo9 |
A |
C |
1: 166,501,236 (GRCm39) |
F237C |
probably damaging |
Het |
Helz |
G |
A |
11: 107,563,753 (GRCm39) |
|
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Ifit1bl1 |
A |
T |
19: 34,571,722 (GRCm39) |
I245K |
probably benign |
Het |
Ighv1-22 |
T |
C |
12: 114,709,918 (GRCm39) |
D109G |
probably damaging |
Het |
Kcnk10 |
T |
C |
12: 98,401,548 (GRCm39) |
R376G |
possibly damaging |
Het |
Lrrc66 |
T |
A |
5: 73,764,646 (GRCm39) |
E799V |
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,867,362 (GRCm39) |
N793I |
probably damaging |
Het |
Nexn |
C |
T |
3: 151,953,680 (GRCm39) |
E247K |
probably damaging |
Het |
Ntmt1 |
A |
G |
2: 30,712,377 (GRCm39) |
H140R |
probably damaging |
Het |
Or11g27 |
T |
A |
14: 50,770,897 (GRCm39) |
N9K |
probably benign |
Het |
Or3a10 |
C |
T |
11: 73,935,653 (GRCm39) |
G149D |
possibly damaging |
Het |
Or9e1 |
T |
A |
11: 58,732,708 (GRCm39) |
V256E |
probably benign |
Het |
Pask |
A |
G |
1: 93,249,373 (GRCm39) |
Y676H |
probably benign |
Het |
Polq |
T |
A |
16: 36,883,115 (GRCm39) |
F1760I |
possibly damaging |
Het |
Ppp1r1b |
T |
C |
11: 98,246,145 (GRCm39) |
|
probably benign |
Het |
Psmf1 |
A |
G |
2: 151,571,456 (GRCm39) |
L169P |
probably damaging |
Het |
Rcbtb1 |
T |
A |
14: 59,458,861 (GRCm39) |
|
probably null |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc24a1 |
T |
C |
9: 64,856,614 (GRCm39) |
I98V |
unknown |
Het |
Slc6a21 |
G |
A |
7: 44,929,952 (GRCm39) |
A147T |
possibly damaging |
Het |
Sycp3 |
A |
G |
10: 88,303,234 (GRCm39) |
E166G |
probably damaging |
Het |
Vmn2r82 |
T |
A |
10: 79,217,090 (GRCm39) |
I474N |
probably damaging |
Het |
Zfp1007 |
T |
C |
5: 109,823,819 (GRCm39) |
T544A |
probably benign |
Het |
|
Other mutations in S1pr4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02348:S1pr4
|
APN |
10 |
81,334,855 (GRCm39) |
nonsense |
probably null |
|
jam
|
UTSW |
10 |
81,335,030 (GRCm39) |
missense |
probably benign |
0.02 |
pickle
|
UTSW |
10 |
81,334,855 (GRCm39) |
nonsense |
probably null |
|
R0446:S1pr4
|
UTSW |
10 |
81,334,823 (GRCm39) |
missense |
probably damaging |
0.98 |
R1605:S1pr4
|
UTSW |
10 |
81,335,225 (GRCm39) |
splice site |
probably null |
|
R1797:S1pr4
|
UTSW |
10 |
81,335,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R2504:S1pr4
|
UTSW |
10 |
81,335,138 (GRCm39) |
missense |
probably benign |
0.01 |
R2943:S1pr4
|
UTSW |
10 |
81,334,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R5849:S1pr4
|
UTSW |
10 |
81,335,157 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6132:S1pr4
|
UTSW |
10 |
81,335,030 (GRCm39) |
missense |
probably benign |
0.02 |
R6235:S1pr4
|
UTSW |
10 |
81,334,716 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7511:S1pr4
|
UTSW |
10 |
81,335,623 (GRCm39) |
unclassified |
probably benign |
|
R7738:S1pr4
|
UTSW |
10 |
81,334,341 (GRCm39) |
missense |
probably benign |
0.01 |
R7740:S1pr4
|
UTSW |
10 |
81,334,855 (GRCm39) |
nonsense |
probably null |
|
R7833:S1pr4
|
UTSW |
10 |
81,334,326 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8299:S1pr4
|
UTSW |
10 |
81,335,267 (GRCm39) |
missense |
probably benign |
|
R8862:S1pr4
|
UTSW |
10 |
81,334,533 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGAGCACATAGCCCTTGGAG -3'
(R):5'- ATCGCCATCTACATGCGGTC -3'
Sequencing Primer
(F):5'- CACATAGCCCTTGGAGTAGAG -3'
(R):5'- CCCGCCGCTGGGTGTAC -3'
|
Posted On |
2014-12-04 |