Incidental Mutation 'R2009:Sphk2'
ID |
219353 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sphk2
|
Ensembl Gene |
ENSMUSG00000057342 |
Gene Name |
sphingosine kinase 2 |
Synonyms |
|
MMRRC Submission |
040018-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2009 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
45358891-45367426 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 45360437 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 522
(H522Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147391
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072836]
[ENSMUST00000080885]
[ENSMUST00000107737]
[ENSMUST00000210060]
[ENSMUST00000210640]
[ENSMUST00000211340]
[ENSMUST00000211513]
[ENSMUST00000211357]
|
AlphaFold |
Q9JIA7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072836
AA Change: H522Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000072615 Gene: ENSMUSG00000057342 AA Change: H522Q
Domain | Start | End | E-Value | Type |
SCOP:d1epfa2
|
63 |
87 |
1e-2 |
SMART |
DAGKc
|
147 |
284 |
4.49e-5 |
SMART |
low complexity region
|
369 |
376 |
N/A |
INTRINSIC |
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
PDB:3VZB|C
|
468 |
609 |
4e-25 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000080885
|
SMART Domains |
Protein: ENSMUSP00000079693 Gene: ENSMUSG00000059824
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
31 |
N/A |
INTRINSIC |
low complexity region
|
71 |
98 |
N/A |
INTRINSIC |
low complexity region
|
127 |
171 |
N/A |
INTRINSIC |
BRLZ
|
253 |
317 |
5.17e-8 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107737
AA Change: H522Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103366 Gene: ENSMUSG00000057342 AA Change: H522Q
Domain | Start | End | E-Value | Type |
SCOP:d1epfa2
|
63 |
87 |
1e-2 |
SMART |
DAGKc
|
147 |
284 |
4.49e-5 |
SMART |
low complexity region
|
369 |
376 |
N/A |
INTRINSIC |
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
PDB:3VZB|C
|
468 |
609 |
4e-25 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210060
AA Change: H522Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210120
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210640
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211340
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211513
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211357
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211748
|
Meta Mutation Damage Score |
0.1650 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (47/47) |
MGI Phenotype |
FUNCTION: This gene encodes a kinase that phosphorylates sphingosine into sphingosine-1-phosphate, which is involved in cell differentiation, motility, and apoptosis. The encoded protein plays a role in maintaining cellular levels of sphingosine-1-phosphate. The gene product also enhances apoptosis in different cell types and suppresses cellular proliferation. In mast cells, the encoded protein is necessary for influx of calcium, protein kinase C activation, and cytokine production and degranulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] PHENOTYPE: Mice homozygous for a disruption in this gene display a normal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts15 |
T |
A |
9: 30,833,433 (GRCm39) |
D34V |
probably benign |
Het |
Adgrf1 |
A |
T |
17: 43,632,112 (GRCm39) |
R884* |
probably null |
Het |
Adgrg7 |
T |
C |
16: 56,582,236 (GRCm39) |
T301A |
probably benign |
Het |
Arhgef17 |
A |
G |
7: 100,530,988 (GRCm39) |
I1366T |
probably damaging |
Het |
C1s2 |
A |
T |
6: 124,612,048 (GRCm39) |
L112H |
probably damaging |
Het |
C2cd6 |
A |
T |
1: 59,042,391 (GRCm39) |
|
noncoding transcript |
Het |
Cfap74 |
G |
A |
4: 155,504,724 (GRCm39) |
R103H |
possibly damaging |
Het |
Col7a1 |
A |
T |
9: 108,797,943 (GRCm39) |
|
probably null |
Het |
Dmp1 |
A |
G |
5: 104,360,706 (GRCm39) |
S461G |
probably damaging |
Het |
Eif4g2 |
A |
T |
7: 110,673,405 (GRCm39) |
D753E |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Etv4 |
T |
C |
11: 101,665,063 (GRCm39) |
D130G |
probably damaging |
Het |
Gabbr2 |
A |
T |
4: 46,734,119 (GRCm39) |
I533N |
probably damaging |
Het |
Gne |
T |
C |
4: 44,055,273 (GRCm39) |
E234G |
probably benign |
Het |
Itga6 |
C |
A |
2: 71,647,025 (GRCm39) |
N78K |
probably benign |
Het |
Lap3 |
C |
T |
5: 45,650,899 (GRCm39) |
T33M |
probably benign |
Het |
Limd1 |
A |
G |
9: 123,308,564 (GRCm39) |
S88G |
probably benign |
Het |
Lrp1 |
G |
T |
10: 127,380,385 (GRCm39) |
T3922K |
probably damaging |
Het |
Map4k3 |
A |
G |
17: 80,971,517 (GRCm39) |
|
probably benign |
Het |
Mib1 |
T |
C |
18: 10,812,118 (GRCm39) |
L263S |
probably damaging |
Het |
Ncor1 |
T |
C |
11: 62,216,427 (GRCm39) |
S1474G |
probably benign |
Het |
Nkapl |
A |
C |
13: 21,651,607 (GRCm39) |
S335R |
probably damaging |
Het |
Nrg3 |
A |
G |
14: 38,092,771 (GRCm39) |
S605P |
probably damaging |
Het |
Or10x4 |
G |
T |
1: 174,218,995 (GRCm39) |
R120L |
possibly damaging |
Het |
Or52b3 |
A |
G |
7: 102,204,151 (GRCm39) |
Y220C |
probably damaging |
Het |
Patj |
G |
A |
4: 98,344,406 (GRCm39) |
D577N |
probably damaging |
Het |
Pfpl |
A |
C |
19: 12,407,319 (GRCm39) |
K523N |
possibly damaging |
Het |
Pik3c2a |
A |
C |
7: 115,963,738 (GRCm39) |
L924R |
probably damaging |
Het |
Pkd2l1 |
C |
A |
19: 44,144,403 (GRCm39) |
R278L |
probably benign |
Het |
Prss2 |
A |
T |
6: 41,500,910 (GRCm39) |
I108F |
probably damaging |
Het |
Rnase2b |
A |
G |
14: 51,400,347 (GRCm39) |
T143A |
possibly damaging |
Het |
Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,235,261 (GRCm39) |
|
probably null |
Het |
Tmem88 |
C |
A |
11: 69,288,602 (GRCm39) |
A106S |
probably damaging |
Het |
Trappc14 |
C |
A |
5: 138,259,191 (GRCm39) |
C434F |
probably damaging |
Het |
Trim39 |
A |
G |
17: 36,574,646 (GRCm39) |
L252S |
possibly damaging |
Het |
Trim60 |
T |
A |
8: 65,453,975 (GRCm39) |
E91D |
probably damaging |
Het |
Trpm5 |
A |
G |
7: 142,641,475 (GRCm39) |
I145T |
possibly damaging |
Het |
Vmn2r107 |
A |
T |
17: 20,595,729 (GRCm39) |
M761L |
probably benign |
Het |
Wdr4 |
G |
A |
17: 31,719,584 (GRCm39) |
|
probably benign |
Het |
Wfs1 |
A |
T |
5: 37,125,653 (GRCm39) |
S413T |
probably damaging |
Het |
Wnt2 |
A |
T |
6: 18,030,208 (GRCm39) |
W27R |
probably damaging |
Het |
Zc3h3 |
A |
T |
15: 75,651,158 (GRCm39) |
H687Q |
probably damaging |
Het |
Zfp750 |
G |
A |
11: 121,403,951 (GRCm39) |
P308L |
possibly damaging |
Het |
|
Other mutations in Sphk2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01672:Sphk2
|
APN |
7 |
45,361,077 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01819:Sphk2
|
APN |
7 |
45,360,480 (GRCm39) |
splice site |
probably null |
|
IGL01943:Sphk2
|
APN |
7 |
45,360,148 (GRCm39) |
unclassified |
probably benign |
|
IGL01981:Sphk2
|
APN |
7 |
45,360,157 (GRCm39) |
missense |
probably benign |
0.01 |
R0270:Sphk2
|
UTSW |
7 |
45,360,149 (GRCm39) |
makesense |
probably null |
|
R1385:Sphk2
|
UTSW |
7 |
45,361,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R1581:Sphk2
|
UTSW |
7 |
45,362,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R1634:Sphk2
|
UTSW |
7 |
45,360,964 (GRCm39) |
missense |
probably benign |
0.03 |
R4755:Sphk2
|
UTSW |
7 |
45,363,058 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5092:Sphk2
|
UTSW |
7 |
45,361,777 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6407:Sphk2
|
UTSW |
7 |
45,362,024 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7320:Sphk2
|
UTSW |
7 |
45,361,894 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7418:Sphk2
|
UTSW |
7 |
45,361,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R7584:Sphk2
|
UTSW |
7 |
45,361,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R7585:Sphk2
|
UTSW |
7 |
45,361,006 (GRCm39) |
missense |
probably benign |
|
R8560:Sphk2
|
UTSW |
7 |
45,361,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R8701:Sphk2
|
UTSW |
7 |
45,360,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R9228:Sphk2
|
UTSW |
7 |
45,360,337 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9314:Sphk2
|
UTSW |
7 |
45,361,158 (GRCm39) |
missense |
probably damaging |
0.99 |
R9320:Sphk2
|
UTSW |
7 |
45,361,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAACTCCCCATCTACAGTGAG -3'
(R):5'- CAGAAATGCCAGCATCTTCGG -3'
Sequencing Primer
(F):5'- ATCTACAGTGAGCAGGCCACG -3'
(R):5'- CAGCATCTTCGGGGTTCCTG -3'
|
Posted On |
2014-08-25 |