Mutagenetix > Incidental Mutation

Incidental Mutation 'R9320:Sphk2'

706091

Institutional Source

Beutler Lab

Gene Symbol

Sphk2

Ensembl Gene

ENSMUSG00000057342

Gene Name

sphingosine kinase 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45358891-45367426 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45361179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 275 (R275H)

Ref Sequence

ENSEMBL: ENSMUSP00000072615 (fasta)

Gene Model

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

AlphaFold

Q9JIA7

Predicted Effect

probably damaging
Transcript: ENSMUST00000072836
AA Change: R275H

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

SMART Domains

Protein: ENSMUSP00000072615
Gene: ENSMUSG00000057342
AA Change: R275H

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: R275H

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

SMART Domains

Protein: ENSMUSP00000103366
Gene: ENSMUSG00000057342
AA Change: R275H

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: R275H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210640

Predicted Effect

probably benign
Transcript: ENSMUST00000211340

Predicted Effect

probably benign
Transcript: ENSMUST00000211357

Predicted Effect

probably benign
Transcript: ENSMUST00000211513

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,139,320 (GRCm39)	Y1451H	probably damaging	Het
Abca7	T	A	10: 79,833,471 (GRCm39)	M8K	possibly damaging	Het
Ablim3	C	A	18: 61,972,805 (GRCm39)	R238L	probably damaging	Het
Adar	T	A	3: 89,658,368 (GRCm39)	Y1141*	probably null	Het
Arid2	T	C	15: 96,269,067 (GRCm39)	I1060T	probably damaging	Het
Armc2	A	T	10: 41,839,774 (GRCm39)	V397D	possibly damaging	Het
Astn2	A	G	4: 66,322,386 (GRCm39)	V71A	unknown	Het
Bcat2	A	G	7: 45,234,542 (GRCm39)	D141G	probably damaging	Het
Bicdl1	C	A	5: 115,862,769 (GRCm39)	R162L	probably damaging	Het
Btbd17	A	G	11: 114,684,910 (GRCm39)	I43T	possibly damaging	Het
C2cd5	A	T	6: 142,977,019 (GRCm39)	C698*	probably null	Het
Calr	T	A	8: 85,572,629 (GRCm39)	K87*	probably null	Het
Cap2	C	T	13: 46,768,818 (GRCm39)	T208I	probably benign	Het
Col14a1	A	T	15: 55,364,780 (GRCm39)	M1630L	probably benign	Het
Copg1	T	G	6: 87,887,072 (GRCm39)	S816A	possibly damaging	Het
Csf2ra	C	A	19: 61,215,280 (GRCm39)	A112S	possibly damaging	Het
Cwc27	T	A	13: 104,933,799 (GRCm39)	H241L	probably benign	Het
Dgki	T	A	6: 36,892,422 (GRCm39)	E852V	probably damaging	Het
Dpp6	T	C	5: 27,868,521 (GRCm39)		probably null	Het
Dynlrb1	T	C	2: 155,089,860 (GRCm39)		probably null	Het
Ehhadh	C	T	16: 21,592,281 (GRCm39)	V141I	probably benign	Het
Esyt3	A	G	9: 99,194,044 (GRCm39)	L865P	probably damaging	Het
Fam83h	T	A	15: 75,873,924 (GRCm39)	T1138S	possibly damaging	Het
Fzd4	T	C	7: 89,056,912 (GRCm39)	W320R	probably damaging	Het
Gimap7	A	T	6: 48,701,260 (GRCm39)	K282M	probably benign	Het
Gnai2	G	A	9: 107,492,913 (GRCm39)	T330I		Het
Gpr107	T	C	2: 31,078,728 (GRCm39)	S388P	possibly damaging	Het
Il1a	T	G	2: 129,142,654 (GRCm39)	M264L	probably benign	Het
Ints10	A	T	8: 69,279,951 (GRCm39)	I693F	probably damaging	Het
Jak3	A	T	8: 72,134,265 (GRCm39)	N456Y	probably benign	Het
Krcc1	A	G	6: 71,261,457 (GRCm39)	E163G	probably benign	Het
Lctl	A	G	9: 64,040,455 (GRCm39)	Y466C	probably damaging	Het
Lrp12	A	T	15: 39,741,357 (GRCm39)	S472T	probably damaging	Het
Lrp1b	A	G	2: 41,335,111 (GRCm39)		probably null	Het
Lrriq1	T	A	10: 103,057,144 (GRCm39)	M219L	probably benign	Het
Mbl2	T	A	19: 30,216,741 (GRCm39)	D184E	probably damaging	Het
Mrgpra9	G	A	7: 46,885,392 (GRCm39)	R92C	probably benign	Het
Mroh4	G	A	15: 74,483,405 (GRCm39)	T644I	probably damaging	Het
Muc5ac	C	T	7: 141,369,255 (GRCm39)	A3114V	probably benign	Het
Myh11	T	A	16: 14,029,152 (GRCm39)	M1197L		Het
Naga	C	T	15: 82,221,084 (GRCm39)	G71S	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nsd3	A	G	8: 26,199,088 (GRCm39)		probably null	Het
Nsun6	T	C	2: 15,047,048 (GRCm39)	T101A	probably benign	Het
Or55b10	T	A	7: 102,144,084 (GRCm39)		probably benign	Het
Pabpc4l	T	A	3: 46,401,326 (GRCm39)	D106V	probably damaging	Het
Pdlim5	G	A	3: 141,953,109 (GRCm39)	P529L	probably damaging	Het
Ralgapa1	A	G	12: 55,755,843 (GRCm39)	L1111P	possibly damaging	Het
Rangap1	T	C	15: 81,606,221 (GRCm39)	D40G	probably benign	Het
Ripor2	T	C	13: 24,915,663 (GRCm39)	F1078L	probably damaging	Het
Ryr3	T	C	2: 112,610,336 (GRCm39)	D2312G	probably damaging	Het
Siglecg	T	A	7: 43,058,853 (GRCm39)	I202N	probably benign	Het
Slco4c1	G	T	1: 96,795,644 (GRCm39)	S138*	probably null	Het
Snx27	T	C	3: 94,431,593 (GRCm39)	Y267C	probably damaging	Het
Stk36	T	A	1: 74,655,793 (GRCm39)	V432E	possibly damaging	Het
Tecrl	C	T	5: 83,428,422 (GRCm39)	S283N	possibly damaging	Het
Tenm2	T	A	11: 35,914,474 (GRCm39)	E2354D	probably damaging	Het
Tmem59l	A	G	8: 70,937,822 (GRCm39)	V186A	possibly damaging	Het
Try4	T	C	6: 41,282,008 (GRCm39)		probably null	Het
Ubr1	C	A	2: 120,727,000 (GRCm39)	G1248V	probably benign	Het
Umod	C	T	7: 119,065,355 (GRCm39)	G558E	probably damaging	Het
Unc13b	T	C	4: 43,171,044 (GRCm39)	F624S	unknown	Het
Uvssa	T	G	5: 33,547,365 (GRCm39)	D310E	probably benign	Het
Vmn1r222	A	T	13: 23,416,418 (GRCm39)	M265K	probably benign	Het
Vmn1r3	A	G	4: 3,185,284 (GRCm39)	F8L	probably benign	Het
Zfp268	C	G	4: 145,349,156 (GRCm39)	Q198E	possibly damaging	Het
Zfp386	T	A	12: 116,023,517 (GRCm39)	C412S	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TAGGTATGCAACGAGGCCAG -3'
(R):5'- GGCTTGATATCATCTCATCATCCTG -3'

Sequencing Primer
(F):5'- AGGCCTAGCACTGCACC -3'
(R):5'- CTTCCGTCGGGTGCTTACAG -3'

Posted On

2022-03-25