Mutagenetix > Incidental Mutation

Incidental Mutation 'R9474:Mfsd2b'

715663

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4912440-4924359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4916820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 306 (D306E)

Ref Sequence

ENSEMBL: ENSMUSP00000045315 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045921
AA Change: D306E

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045315
Gene: ENSMUSG00000037336
AA Change: D306E

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

possibly damaging
Transcript: ENSMUST00000085790
AA Change: D306E

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000082945
Gene: ENSMUSG00000037336
AA Change: D306E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137337
AA Change: D203E

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117057
Gene: ENSMUSG00000037336
AA Change: D203E

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

probably benign
Transcript: ENSMUST00000147241

SMART Domains

Protein: ENSMUSP00000114977
Gene: ENSMUSG00000037336

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	C	A	10: 78,903,565 (GRCm39)	K250N	probably damaging	Het
Adam5	A	T	8: 25,237,540 (GRCm39)	D623E	possibly damaging	Het
Akt3	T	C	1: 176,852,952 (GRCm39)	Y473C	probably damaging	Het
Ankib1	A	G	5: 3,805,617 (GRCm39)	Y217H	probably damaging	Het
Clca4b	T	A	3: 144,616,927 (GRCm39)	T908S	probably benign	Het
Clec7a	G	A	6: 129,440,126 (GRCm39)	Q160*	probably null	Het
Cntnap4	T	A	8: 113,460,103 (GRCm39)	I152N	probably damaging	Het
Ctdspl	C	T	9: 118,866,445 (GRCm39)	A179V	probably damaging	Het
Ddx43	T	C	9: 78,313,668 (GRCm39)	S200P	probably damaging	Het
Dip2c	A	G	13: 9,544,963 (GRCm39)	D84G	unknown	Het
Dmbt1	G	A	7: 130,675,987 (GRCm39)	R625H	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
E2f7	C	T	10: 110,603,050 (GRCm39)	T355I	probably damaging	Het
E2f7	C	A	10: 110,614,918 (GRCm39)	L541M	probably damaging	Het
Elovl5	T	A	9: 77,890,007 (GRCm39)	S273T	possibly damaging	Het
Emc1	T	A	4: 139,093,705 (GRCm39)	L605Q	probably damaging	Het
Fras1	T	A	5: 96,887,124 (GRCm39)	D2635E	probably benign	Het
Gabrb1	G	A	5: 72,265,690 (GRCm39)	G195E	probably damaging	Het
Galm	A	G	17: 80,457,561 (GRCm39)	D199G	possibly damaging	Het
Galntl6	T	G	8: 58,230,359 (GRCm39)	S20R	probably damaging	Het
Grb14	T	G	2: 64,768,744 (GRCm39)	Y189S	probably damaging	Het
Hk2	T	A	6: 82,705,895 (GRCm39)	I803F	probably damaging	Het
Hmcn1	G	A	1: 150,506,471 (GRCm39)	R3779W	probably damaging	Het
Hmgcr	A	C	13: 96,796,403 (GRCm39)	M260R	probably damaging	Het
Hsbp1l1	T	A	18: 80,276,639 (GRCm39)	K68N	possibly damaging	Het
Inhba	A	C	13: 16,192,263 (GRCm39)	E128A	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Klhl3	G	A	13: 58,167,273 (GRCm39)	P364S	probably damaging	Het
Lhpp	T	C	7: 132,243,312 (GRCm39)	L176P	probably damaging	Het
Lrp1b	C	A	2: 40,491,599 (GRCm39)	A223S	probably damaging	Het
Lrp3	A	G	7: 34,903,489 (GRCm39)	F286L	probably damaging	Het
Lrrc7	T	C	3: 157,841,028 (GRCm39)	T1337A	probably benign	Het
Magi2	A	G	5: 20,400,019 (GRCm39)	D17G	probably benign	Het
Map3k21	T	C	8: 126,650,903 (GRCm39)	S302P	probably damaging	Het
Matcap2	T	C	9: 22,343,015 (GRCm39)	M303T	probably damaging	Het
Mbtd1	A	G	11: 93,816,511 (GRCm39)	D386G	probably benign	Het
Muc20	T	C	16: 32,614,453 (GRCm39)	E308G	probably damaging	Het
Myh13	G	A	11: 67,255,712 (GRCm39)	S34N		Het
Nebl	C	A	2: 17,374,421 (GRCm39)	G894*	probably null	Het
Nelfa	A	G	5: 34,056,095 (GRCm39)	Y523H	probably damaging	Het
Ninj1	A	G	13: 49,341,076 (GRCm39)	D13G	probably benign	Het
Ninl	A	T	2: 150,782,726 (GRCm39)	S170T	probably benign	Het
Nlrp4c	G	A	7: 6,068,626 (GRCm39)	V176M	possibly damaging	Het
Nobox	G	A	6: 43,284,115 (GRCm39)	R144C	probably damaging	Het
Oas1a	G	A	5: 121,037,317 (GRCm39)	L237F	probably damaging	Het
Or4a81	A	C	2: 89,619,506 (GRCm39)	Y63*	probably null	Het
Or52z15	A	T	7: 103,332,477 (GRCm39)	Y184F	probably damaging	Het
Or5w20	T	C	2: 87,726,693 (GRCm39)	M50T	probably benign	Het
Or6z1	A	G	7: 6,505,150 (GRCm39)	L25P	probably benign	Het
Or7c70	T	C	10: 78,682,891 (GRCm39)	N286S	probably damaging	Het
Or8h9	A	G	2: 86,789,757 (GRCm39)	M15T	probably benign	Het
Orai1	A	G	5: 123,167,301 (GRCm39)	N158S	probably damaging	Het
Pa2g4	C	A	10: 128,398,967 (GRCm39)	V121L	probably benign	Het
Pclo	T	C	5: 14,571,250 (GRCm39)	S212P	possibly damaging	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Plg	A	G	17: 12,622,024 (GRCm39)	Y448C	probably damaging	Het
Plppr4	A	T	3: 117,116,866 (GRCm39)	N330K	probably damaging	Het
Pou2f2	A	G	7: 24,794,247 (GRCm39)	L373S	probably benign	Het
Rnpep	A	G	1: 135,211,341 (GRCm39)	F136L	probably benign	Het
Rp1	A	G	1: 4,162,838 (GRCm39)		probably null	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc5a4a	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	10: 75,986,238 (GRCm39)		probably benign	Het
Slc5a5	T	C	8: 71,337,596 (GRCm39)	D574G	probably benign	Het
Slc7a15	T	A	12: 8,588,794 (GRCm39)	N251I	probably damaging	Het
Speer4a3	A	T	5: 26,158,136 (GRCm39)	I72N	probably damaging	Het
Susd4	T	C	1: 182,719,665 (GRCm39)	S427P	probably benign	Het
Tarbp1	T	A	8: 127,155,779 (GRCm39)	T1320S	probably benign	Het
Tbpl2	C	T	2: 23,984,650 (GRCm39)	V166I	probably benign	Het
Thbs1	T	C	2: 117,950,518 (GRCm39)		probably null	Het
Tnfsf13b	A	G	8: 10,081,648 (GRCm39)	Y270C	probably damaging	Het
Vps11	G	T	9: 44,260,290 (GRCm39)	C857*	probably null	Het
Vsig10	G	A	5: 117,463,104 (GRCm39)	R110H	probably benign	Het
Wee2	T	A	6: 40,432,044 (GRCm39)	Y204*	probably null	Het
Zfpm2	T	A	15: 40,966,867 (GRCm39)	S1117R	probably damaging	Het
Zscan5b	A	G	7: 6,234,472 (GRCm39)	N166S	probably benign	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
R1535:Mfsd2b	UTSW	12	4,920,605 (GRCm39)	missense	probably damaging	1.00
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
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'- CCCTGGCTTTTACGTAGGAC -3'
(R):5'- GGAATCCTTTGAGTTCAAGGACTC -3'

Sequencing Primer
(F):5'- GGCTTTTACGTAGGACACCTAAC -3'
(R):5'- CTTTGAGTTCAAGGACTCAAAGG -3'

Posted On

2022-06-15