Mutagenetix > Incidental Mutation

Incidental Mutation 'R8560:Sphk2'

660988

Institutional Source

Beutler Lab

Gene Symbol

Sphk2

Ensembl Gene

ENSMUSG00000057342

Gene Name

sphingosine kinase 2

Synonyms

MMRRC Submission

068523-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8560 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45358891-45367426 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45361514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 245 (N245K)

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: N245K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072615
Gene: ENSMUSG00000057342
AA Change: N245K

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: N245K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103366
Gene: ENSMUSG00000057342
AA Change: N245K

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: N245K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000210640

Predicted Effect

probably damaging
Transcript: ENSMUST00000211340
AA Change: N121K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 98.6%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,958,374 (GRCm39)	V819A	unknown	Het
Ahi1	T	C	10: 20,835,814 (GRCm39)	V49A	probably benign	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,092,160 (GRCm39)		probably benign	Het
Ccdc87	C	T	19: 4,891,901 (GRCm39)	R798W	probably damaging	Het
Cd163	T	C	6: 124,294,360 (GRCm39)	L506S	possibly damaging	Het
Chsy3	T	C	18: 59,543,130 (GRCm39)	V756A	possibly damaging	Het
Cisd3	G	T	11: 97,576,689 (GRCm39)	W5L	possibly damaging	Het
Coro1c	A	T	5: 113,984,249 (GRCm39)	H339Q	probably damaging	Het
Cybc1	G	T	11: 121,115,041 (GRCm39)	A154D	probably damaging	Het
D630045J12Rik	T	A	6: 38,126,649 (GRCm39)	I1454F	probably damaging	Het
Dab2ip	T	C	2: 35,603,144 (GRCm39)	S448P	probably damaging	Het
Dennd5a	A	G	7: 109,533,898 (GRCm39)		probably null	Het
Depdc1a	A	G	3: 159,219,912 (GRCm39)	K139E	probably damaging	Het
Dock6	T	C	9: 21,714,132 (GRCm39)	K1874R	probably benign	Het
Dst	A	G	1: 34,307,970 (GRCm39)	H4229R	probably damaging	Het
Esyt3	T	C	9: 99,202,375 (GRCm39)	D512G	probably damaging	Het
Fastkd5	T	A	2: 130,457,865 (GRCm39)	I242L	probably benign	Het
Foxo3	G	A	10: 42,151,278 (GRCm39)	T51M	possibly damaging	Het
Gcfc2	T	C	6: 81,900,863 (GRCm39)	V59A	possibly damaging	Het
Gm14410	C	A	2: 176,885,445 (GRCm39)	C273F	probably damaging	Het
Gucy1b1	G	T	3: 81,942,685 (GRCm39)	P486T	probably damaging	Het
Hydin	A	G	8: 111,265,106 (GRCm39)	N2763S	probably benign	Het
Ifna2	C	A	4: 88,601,502 (GRCm39)	W172L	possibly damaging	Het
Igkv6-29	T	C	6: 70,115,651 (GRCm39)	N48D	probably benign	Het
Il17ra	C	A	6: 120,459,226 (GRCm39)	D792E	possibly damaging	Het
Kcnh5	G	T	12: 75,023,379 (GRCm39)	A563E	probably damaging	Het
Klra4	C	A	6: 130,042,235 (GRCm39)	V11L	probably benign	Het
Krt13	T	C	11: 100,009,676 (GRCm39)	E368G	possibly damaging	Het
Lrpprc	T	A	17: 85,047,495 (GRCm39)		probably benign	Het
Mal2	T	C	15: 54,461,826 (GRCm39)	I107T	probably benign	Het
Mc4r	T	C	18: 66,992,166 (GRCm39)	I316V	possibly damaging	Het
Mdn1	T	A	4: 32,743,830 (GRCm39)	V4022E	probably benign	Het
Med12l	A	G	3: 58,945,026 (GRCm39)	N84D	probably damaging	Het
Mx1	T	G	16: 97,253,987 (GRCm39)	T298P	probably damaging	Het
Myh7	T	C	14: 55,213,405 (GRCm39)	E1367G	possibly damaging	Het
Myh7b	A	G	2: 155,465,124 (GRCm39)	E660G	possibly damaging	Het
Nbeal1	T	A	1: 60,274,316 (GRCm39)	N242K	probably benign	Het
Nsun5	A	G	5: 135,404,743 (GRCm39)	T435A	probably benign	Het
Or14j4	C	T	17: 37,920,949 (GRCm39)	S231N	possibly damaging	Het
Or4q3	T	A	14: 50,583,794 (GRCm39)	D4V	probably benign	Het
Or5b109	T	C	19: 13,211,656 (GRCm39)	L14P	possibly damaging	Het
Pcdhb17	C	T	18: 37,619,206 (GRCm39)	T332M	possibly damaging	Het
Pi4k2a	C	T	19: 42,089,151 (GRCm39)	Q171*	probably null	Het
Plb1	T	C	5: 32,460,023 (GRCm39)	V421A	possibly damaging	Het
Prkag2	TTTTTTTTTTTTA	T	5: 25,071,063 (GRCm39)		probably benign	Het
Prlhr	A	G	19: 60,456,635 (GRCm39)		probably benign	Het
Prpf8	T	A	11: 75,382,600 (GRCm39)	C435*	probably null	Het
Rnf183	T	A	4: 62,346,735 (GRCm39)	N21I	probably damaging	Het
Rnf41	T	A	10: 128,274,222 (GRCm39)	C291*	probably null	Het
Shd	T	C	17: 56,278,616 (GRCm39)	S60P	probably benign	Het
Slc16a5	A	G	11: 115,360,545 (GRCm39)	T243A	probably benign	Het
Slc33a1	A	T	3: 63,850,773 (GRCm39)	I517N	possibly damaging	Het
Slc4a1	A	C	11: 102,244,083 (GRCm39)	M682R	possibly damaging	Het
Stx7	T	C	10: 24,057,454 (GRCm39)	I160T	possibly damaging	Het
Thbs4	T	C	13: 92,891,608 (GRCm39)	I836V	probably damaging	Het
Tmc5	A	T	7: 118,268,514 (GRCm39)	N861Y	probably damaging	Het
Trappc5	T	A	8: 3,729,303 (GRCm39)	W94R	probably damaging	Het
Trmt44	T	C	5: 35,715,295 (GRCm39)	I673V	probably benign	Het
Ttn	T	C	2: 76,571,615 (GRCm39)	Y26426C	probably damaging	Het
Wdr81	C	T	11: 75,336,260 (GRCm39)	G591R		Het
Zfp236	G	A	18: 82,664,340 (GRCm39)	R482W	probably damaging	Het
Zfp51	T	A	17: 21,685,635 (GRCm39)	M750K	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
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
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'- GAGCAGTTGAGCAACAGGTC -3'
(R):5'- GCTGCTTTACGAGGTAGACC -3'

Sequencing Primer
(F):5'- CCTTCAAAATCAGAGAAAGGTGTC -3'
(R):5'- GTAGACCTGCAGACACCCTG -3'

Posted On

2021-03-08