Mutagenetix > Incidental Mutation

Incidental Mutation 'R1535:Mfsd2b'

166907

Institutional Source

Beutler Lab

Gene Symbol

Mfsd2b

Ensembl Gene

ENSMUSG00000037336

Gene Name

MFSD2 lysolipid transporter B, sphingolipid

Synonyms

Gm1964, major facilitator superfamily domain containing 2B

MMRRC Submission

039574-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1535 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4912440-4924359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4920605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 71 (S71P)

Ref Sequence

ENSEMBL: ENSMUSP00000114977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045921] [ENSMUST00000085790] [ENSMUST00000137337] [ENSMUST00000147241]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000045921
AA Change: S71P

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

SMART Domains

Protein: ENSMUSP00000045315
Gene: ENSMUSG00000037336
AA Change: S71P

Domain	Start	End	E-Value	Type
Pfam:MFS_2	33	472	4.6e-74	PFAM
low complexity region	476	490	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000085790
AA Change: S71P

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

SMART Domains

Protein: ENSMUSP00000082945
Gene: ENSMUSG00000037336
AA Change: S71P

Domain	Start	End	E-Value	Type
Pfam:MFS_2	32	346	2.2e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125344

Predicted Effect

probably benign
Transcript: ENSMUST00000137337

SMART Domains

Protein: ENSMUSP00000117057
Gene: ENSMUSG00000037336

Domain	Start	End	E-Value	Type
Pfam:MFS_2	1	368	1.1e-59	PFAM
low complexity region	373	387	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143446

Predicted Effect

probably damaging
Transcript: ENSMUST00000147241
AA Change: S71P

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

SMART Domains

Protein: ENSMUSP00000114977
Gene: ENSMUSG00000037336
AA Change: S71P

Domain	Start	End	E-Value	Type
Pfam:MFS_2	33	110	3.1e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150764

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153676

Meta Mutation Damage Score

0.6193

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

100% (75/75)

MGI Phenotype

PHENOTYPE: Homozygous KO reduces sphingosine-1-phosphate export from, and increases its accumulation in, red blood cells and platelets, and leads to reduced leukocyte, reticulocyte, and erythrocyte cell numbers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,099,203 (GRCm39)	S99P	possibly damaging	Het
Abca16	T	A	7: 120,139,928 (GRCm39)	I1530N	probably benign	Het
Abcc9	T	G	6: 142,610,361 (GRCm39)	Q601P	probably damaging	Het
Acap3	A	G	4: 155,980,631 (GRCm39)		probably benign	Het
Adamts16	A	T	13: 70,939,913 (GRCm39)		probably null	Het
Alpk2	G	C	18: 65,483,275 (GRCm39)	S244R	probably benign	Het
Aoc1l1	T	C	6: 48,952,398 (GRCm39)	F108L	probably damaging	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
Bend5	C	A	4: 111,316,960 (GRCm39)	D374E	probably benign	Het
Catsperg2	T	C	7: 29,397,671 (GRCm39)	D1014G	possibly damaging	Het
Ccer2	G	T	7: 28,456,822 (GRCm39)	G189*	probably null	Het
Ces2h	A	G	8: 105,741,118 (GRCm39)	T37A	probably benign	Het
Cfap68	C	T	9: 50,675,307 (GRCm39)	R40Q	probably damaging	Het
Cmah	T	C	13: 24,623,203 (GRCm39)	F213L	probably damaging	Het
Cntn2	T	C	1: 132,453,122 (GRCm39)	E390G	probably benign	Het
Coq7	C	T	7: 118,128,897 (GRCm39)	R46Q	possibly damaging	Het
Cpb1	T	A	3: 20,320,451 (GRCm39)	D136V	probably benign	Het
Cxcr2	T	C	1: 74,198,217 (GRCm39)	L237P	probably damaging	Het
Daam1	T	C	12: 71,998,692 (GRCm39)	L549P	unknown	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Dis3	G	T	14: 99,316,862 (GRCm39)	Q825K	probably damaging	Het
Dnah11	C	T	12: 117,982,465 (GRCm39)	R2568Q	probably damaging	Het
Dnah12	A	T	14: 26,538,279 (GRCm39)	R2312S	possibly damaging	Het
Dock9	C	T	14: 121,783,476 (GRCm39)	E2041K	probably damaging	Het
Eci1	A	G	17: 24,658,064 (GRCm39)	E282G	probably benign	Het
Egf	T	A	3: 129,484,427 (GRCm39)	T464S	probably benign	Het
Eif4g3	C	T	4: 137,824,613 (GRCm39)	P97S	probably damaging	Het
Emsy	A	G	7: 98,242,944 (GRCm39)	V1065A	possibly damaging	Het
Ep400	G	T	5: 110,856,032 (GRCm39)		probably benign	Het
Fam13a	A	C	6: 58,916,332 (GRCm39)	I607S	probably damaging	Het
Fam241b	A	G	10: 61,944,728 (GRCm39)	S113P	probably damaging	Het
Fbxl21	A	T	13: 56,671,340 (GRCm39)	M1L	probably benign	Het
Fnip2	C	A	3: 79,389,072 (GRCm39)	C553F	probably damaging	Het
Frmd3	G	T	4: 73,931,995 (GRCm39)		probably benign	Het
Grm4	G	A	17: 27,653,775 (GRCm39)	S470L	probably benign	Het
Gucy2e	T	A	11: 69,117,070 (GRCm39)	I784F	probably damaging	Het
H1f10	T	C	6: 87,958,130 (GRCm39)	Y70C	probably damaging	Het
Hmcn2	A	T	2: 31,310,419 (GRCm39)	T3338S	possibly damaging	Het
Idh1	C	T	1: 65,207,697 (GRCm39)	G161R	probably damaging	Het
Idi1	T	C	13: 8,936,945 (GRCm39)		probably benign	Het
Idi2l	A	T	13: 8,990,680 (GRCm39)		probably benign	Het
Kcnq2	C	T	2: 180,776,618 (GRCm39)	G90S	probably damaging	Het
Klhl29	A	G	12: 5,134,486 (GRCm39)	Y642H	probably damaging	Het
Lmtk3	T	A	7: 45,443,994 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,334,486 (GRCm39)	F4420I	probably benign	Het
Me1	A	G	9: 86,469,096 (GRCm39)	S470P	probably damaging	Het
Mfsd3	T	C	15: 76,586,979 (GRCm39)	L273P	probably damaging	Het
Mical1	A	G	10: 41,361,207 (GRCm39)	K757R	possibly damaging	Het
Myh9	A	T	15: 77,662,013 (GRCm39)	V782D	probably damaging	Het
Nab2	C	G	10: 127,500,916 (GRCm39)	E59Q	probably damaging	Het
Nfyc	A	T	4: 120,618,921 (GRCm39)	N244K	probably damaging	Het
Nupr2	A	G	5: 129,937,672 (GRCm39)	I80M	probably damaging	Het
Or4c15b	T	C	2: 89,113,401 (GRCm39)	I46M	probably benign	Het
Or51f1d	A	G	7: 102,700,576 (GRCm39)	T24A	probably benign	Het
Or5a1	A	G	19: 12,097,696 (GRCm39)	C115R	probably damaging	Het
Pkn3	A	G	2: 29,977,065 (GRCm39)	T602A	probably benign	Het
Prrc2b	T	A	2: 32,094,301 (GRCm39)	V561D	probably benign	Het
Psd2	T	A	18: 36,138,843 (GRCm39)	V489E	probably benign	Het
Rasal2	T	C	1: 157,057,629 (GRCm39)	T181A	probably benign	Het
Serpinb13	T	C	1: 106,909,886 (GRCm39)	M1T	probably null	Het
Sgsm1	A	T	5: 113,411,135 (GRCm39)	S864T	possibly damaging	Het
Slc5a10	C	A	11: 61,564,767 (GRCm39)	G404V	possibly damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Son	A	G	16: 91,456,622 (GRCm39)	K1790E	probably damaging	Het
Spata31e5	T	C	1: 28,816,505 (GRCm39)	E509G	probably damaging	Het
Syde2	A	G	3: 145,708,176 (GRCm39)		probably benign	Het
Tmem126a	T	C	7: 90,102,026 (GRCm39)	I58V	probably benign	Het
Vmn2r8	T	C	5: 108,950,040 (GRCm39)	Y269C	probably damaging	Het
Wdr87-ps	C	T	7: 29,229,004 (GRCm39)		noncoding transcript	Het
Yeats2	T	A	16: 20,008,115 (GRCm39)	S416T	probably damaging	Het
Zfp40	A	T	17: 23,394,843 (GRCm39)	H513Q	probably damaging	Het

Other mutations in Mfsd2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01810:Mfsd2b	APN	12	4,916,469 (GRCm39)	missense	possibly damaging	0.63
IGL03188:Mfsd2b	APN	12	4,916,538 (GRCm39)	splice site	probably null
IGL03339:Mfsd2b	APN	12	4,924,335 (GRCm39)	start codon destroyed	probably null
R0142:Mfsd2b	UTSW	12	4,916,234 (GRCm39)	missense	probably benign	0.11
R1468:Mfsd2b	UTSW	12	4,920,536 (GRCm39)	nonsense	probably null
R1468:Mfsd2b	UTSW	12	4,920,536 (GRCm39)	nonsense	probably null
R1718:Mfsd2b	UTSW	12	4,919,037 (GRCm39)	missense	probably damaging	1.00
R1894:Mfsd2b	UTSW	12	4,919,155 (GRCm39)	missense	probably damaging	0.99
R2127:Mfsd2b	UTSW	12	4,917,659 (GRCm39)	missense	probably benign	0.01
R2392:Mfsd2b	UTSW	12	4,915,164 (GRCm39)	missense	possibly damaging	0.73
R3737:Mfsd2b	UTSW	12	4,920,578 (GRCm39)	missense	probably damaging	1.00
R3738:Mfsd2b	UTSW	12	4,920,578 (GRCm39)	missense	probably damaging	1.00
R3739:Mfsd2b	UTSW	12	4,920,578 (GRCm39)	missense	probably damaging	1.00
R3956:Mfsd2b	UTSW	12	4,916,848 (GRCm39)	missense	probably damaging	1.00
R4035:Mfsd2b	UTSW	12	4,920,578 (GRCm39)	missense	probably damaging	1.00
R4244:Mfsd2b	UTSW	12	4,924,356 (GRCm39)	utr 5 prime	probably benign
R4595:Mfsd2b	UTSW	12	4,915,807 (GRCm39)	missense	possibly damaging	0.87
R4667:Mfsd2b	UTSW	12	4,917,636 (GRCm39)	missense	probably benign	0.01
R4723:Mfsd2b	UTSW	12	4,918,992 (GRCm39)	missense	probably benign	0.03
R5126:Mfsd2b	UTSW	12	4,916,183 (GRCm39)	missense	probably benign	0.30
R5145:Mfsd2b	UTSW	12	4,915,908 (GRCm39)	unclassified	probably benign
R5890:Mfsd2b	UTSW	12	4,917,651 (GRCm39)	missense	probably damaging	1.00
R5976:Mfsd2b	UTSW	12	4,916,522 (GRCm39)	missense	probably damaging	1.00
R6753:Mfsd2b	UTSW	12	4,917,358 (GRCm39)	missense	possibly damaging	0.90
R6912:Mfsd2b	UTSW	12	4,920,611 (GRCm39)	nonsense	probably null
R7182:Mfsd2b	UTSW	12	4,916,157 (GRCm39)	critical splice donor site	probably null
R7472:Mfsd2b	UTSW	12	4,916,481 (GRCm39)	missense	probably damaging	1.00
R8429:Mfsd2b	UTSW	12	4,916,487 (GRCm39)	missense	possibly damaging	0.90
R8559:Mfsd2b	UTSW	12	4,921,471 (GRCm39)	missense	possibly damaging	0.63
R8992:Mfsd2b	UTSW	12	4,921,490 (GRCm39)	missense	probably benign
R9410:Mfsd2b	UTSW	12	4,915,747 (GRCm39)	missense	probably damaging	1.00
R9474:Mfsd2b	UTSW	12	4,916,820 (GRCm39)	missense	possibly damaging	0.91
X0062:Mfsd2b	UTSW	12	4,915,170 (GRCm39)	missense	probably benign	0.01
Z1176:Mfsd2b	UTSW	12	4,916,530 (GRCm39)	critical splice acceptor site	probably null
Z1177:Mfsd2b	UTSW	12	4,915,794 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGCTTGTCTTCCAACCATCCACG -3'
(R):5'- ACAGGTGTCAGCATTAGCCCTCTC -3'

Sequencing Primer
(F):5'- CATCCACGGGGAACAACTAGG -3'
(R):5'- AGCCCTCTCCTCAGTGG -3'

Posted On

2014-04-13