Mutagenetix > Incidental Mutation

Incidental Mutation 'R1581:Sphk2'

171402

Institutional Source

Beutler Lab

Gene Symbol

Sphk2

Ensembl Gene

ENSMUSG00000057342

Gene Name

sphingosine kinase 2

Synonyms

MMRRC Submission

039618-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45358891-45367426 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45362920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 57 (V57A)

Ref Sequence

ENSEMBL: ENSMUSP00000147391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072503] [ENSMUST00000072836] [ENSMUST00000080885] [ENSMUST00000107737] [ENSMUST00000209287] [ENSMUST00000209693] [ENSMUST00000210060] [ENSMUST00000211061] [ENSMUST00000211513] [ENSMUST00000211340] [ENSMUST00000211357] [ENSMUST00000210640]

AlphaFold

Q9JIA7

Predicted Effect

probably benign
Transcript: ENSMUST00000072503

SMART Domains

Protein: ENSMUSP00000072320
Gene: ENSMUSG00000059070

Domain	Start	End	E-Value	Type
PDB:2ZKR\|O	1	188	1e-116	PDB
SCOP:d1jj2n_	22	139	1e-43	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000072836
AA Change: V57A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000072615
Gene: ENSMUSG00000057342
AA Change: V57A

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: V57A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103366
Gene: ENSMUSG00000057342
AA Change: V57A

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: ENSMUST00000209287

Predicted Effect

probably benign
Transcript: ENSMUST00000209693

Predicted Effect

probably damaging
Transcript: ENSMUST00000210060
AA Change: V57A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000211061

Predicted Effect

probably benign
Transcript: ENSMUST00000211513

Predicted Effect

probably benign
Transcript: ENSMUST00000211340

Predicted Effect

probably benign
Transcript: ENSMUST00000211357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210120

Predicted Effect

probably benign
Transcript: ENSMUST00000210640

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 92.6%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,063,347 (GRCm39)	E447G	probably benign	Het
Actn4	T	C	7: 28,598,071 (GRCm39)	T510A	probably benign	Het
Adgrb3	A	G	1: 25,133,153 (GRCm39)	M1311T	possibly damaging	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bicdl1	G	T	5: 115,789,326 (GRCm39)		probably benign	Het
Bmyc	T	C	2: 25,597,346 (GRCm39)	S137P	probably damaging	Het
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Casc3	C	T	11: 98,713,644 (GRCm39)	T292I	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cibar1	T	A	4: 12,155,745 (GRCm39)		probably null	Het
Cnnm2	A	G	19: 46,751,562 (GRCm39)	T451A	probably damaging	Het
Eed	T	C	7: 89,629,676 (GRCm39)	K20E	possibly damaging	Het
Eps15	T	A	4: 109,220,383 (GRCm39)	M180K	probably benign	Het
Esr1	T	C	10: 4,947,905 (GRCm39)	I486T	probably damaging	Het
Etnppl	A	G	3: 130,422,393 (GRCm39)	I207V	possibly damaging	Het
Fancg	G	A	4: 43,007,039 (GRCm39)	P246L	probably damaging	Het
Fcrl1	G	A	3: 87,293,030 (GRCm39)	C249Y	possibly damaging	Het
Foxred2	A	G	15: 77,839,961 (GRCm39)	F110L	possibly damaging	Het
Fsip2	A	T	2: 82,816,626 (GRCm39)	N4120Y	probably damaging	Het
Gm4884	C	T	7: 40,693,255 (GRCm39)	S408L	probably benign	Het
Gm9476	T	C	10: 100,142,474 (GRCm39)		noncoding transcript	Het
Gria1	T	C	11: 57,127,836 (GRCm39)		probably null	Het
H6pd	T	A	4: 150,066,971 (GRCm39)	I472F	possibly damaging	Het
Hydin	A	T	8: 111,137,092 (GRCm39)	M632L	probably benign	Het
Hyou1	C	T	9: 44,300,167 (GRCm39)	P819S	probably damaging	Het
Il6st	A	G	13: 112,618,075 (GRCm39)	E163G	probably damaging	Het
Kcnk1	T	C	8: 126,722,278 (GRCm39)	V27A	possibly damaging	Het
Kdelr3	T	C	15: 79,407,114 (GRCm39)		probably null	Het
Klk1b22	A	G	7: 43,765,399 (GRCm39)	N117S	possibly damaging	Het
Klrh1	T	C	6: 129,752,796 (GRCm39)	D3G	probably benign	Het
Lpp	C	A	16: 24,500,591 (GRCm39)	C134*	probably null	Het
Lrrc37a	G	A	11: 103,347,843 (GRCm39)	R2951*	probably null	Het
Luzp2	T	A	7: 54,899,238 (GRCm39)	D285E	possibly damaging	Het
Ly75	C	T	2: 60,158,237 (GRCm39)	R1016H	probably damaging	Het
Mesp2	T	A	7: 79,462,289 (GRCm39)	S282T	possibly damaging	Het
Nav3	T	C	10: 109,659,289 (GRCm39)	D776G	probably damaging	Het
Nr2e1	T	C	10: 42,443,964 (GRCm39)	T253A	probably benign	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Or1r1	A	T	11: 73,875,347 (GRCm39)	L29H	probably damaging	Het
Padi6	T	C	4: 140,463,147 (GRCm39)	Y146C	probably damaging	Het
Pank4	C	T	4: 155,059,108 (GRCm39)	R414W	probably damaging	Het
Pclo	T	G	5: 14,571,296 (GRCm39)	I227S	probably benign	Het
Plppr4	A	G	3: 117,121,915 (GRCm39)	V221A	possibly damaging	Het
Pradc1	G	A	6: 85,425,568 (GRCm39)	R25C	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rnd2	A	G	11: 101,362,022 (GRCm39)	T192A	probably benign	Het
Rtbdn	A	G	8: 85,681,695 (GRCm39)	E131G	probably benign	Het
Ryr2	A	G	13: 11,809,449 (GRCm39)	V792A	probably benign	Het
Sacs	G	T	14: 61,451,128 (GRCm39)	Q4391H	probably damaging	Het
Scd2	A	G	19: 44,286,538 (GRCm39)	S123G	probably benign	Het
Septin9	A	G	11: 117,181,421 (GRCm39)	R74G	probably damaging	Het
Sipa1l2	T	A	8: 126,218,356 (GRCm39)	Q327L	probably damaging	Het
Skor1	T	C	9: 63,053,505 (GRCm39)	T127A	probably damaging	Het
Tfec	A	T	6: 16,844,243 (GRCm39)	D101E	probably damaging	Het
Tmem43	T	A	6: 91,455,717 (GRCm39)	H109Q	probably benign	Het
Tmem67	C	A	4: 12,047,814 (GRCm39)	S839I	probably damaging	Het
Trpv5	T	C	6: 41,630,074 (GRCm39)	Y672C	probably damaging	Het
Ttc39d	A	C	17: 80,523,913 (GRCm39)	S191R	probably benign	Het
Ttll1	C	T	15: 83,380,478 (GRCm39)	V296M	probably damaging	Het
Upp2	A	C	2: 58,664,177 (GRCm39)	K130T	possibly damaging	Het
Vmn2r5	A	G	3: 64,398,640 (GRCm39)	C780R	probably damaging	Het
Wars1	C	A	12: 108,841,635 (GRCm39)	E171*	probably null	Het
Zeb2	A	T	2: 44,887,012 (GRCm39)	S637T	probably damaging	Het
Zfp27	T	A	7: 29,595,549 (GRCm39)	T139S	possibly damaging	Het
Zfp941	A	T	7: 140,392,033 (GRCm39)	L442Q	probably benign	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
R1634:Sphk2	UTSW	7	45,360,964 (GRCm39)	missense	probably benign	0.03
R2009:Sphk2	UTSW	7	45,360,437 (GRCm39)	missense	probably damaging	0.99
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'- ATTCTCCTCATAAGTGGTGGCCCC -3'
(R):5'- TTTCATACCTGCACACAGGCATCTC -3'

Sequencing Primer
(F):5'- CATCCGCCCGGAAGGTC -3'
(R):5'- AGTGCTTGGGACTGAACC -3'

Posted On

2014-04-13