Mutagenetix > Incidental Mutation

Incidental Mutation 'R6433:Mfsd2a'

518632

Institutional Source

Beutler Lab

Gene Symbol

Mfsd2a

Ensembl Gene

ENSMUSG00000028655

Gene Name

major facilitator superfamily domain containing 2A

Synonyms

1700018O18Rik, Mfsd2

MMRRC Submission

044571-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

R6433 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122946850-122961188 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122950457 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 299 (V299A)

Ref Sequence

ENSEMBL: ENSMUSP00000030408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030408]

AlphaFold

Q9DA75

Predicted Effect

probably benign
Transcript: ENSMUST00000030408
AA Change: V299A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000030408
Gene: ENSMUSG00000028655
AA Change: V299A

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	27	39	N/A	INTRINSIC
Pfam:MFS_2	44	500	1.7e-96	PFAM
Pfam:MFS_1	57	450	9.3e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152308

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (56/56)

MGI Phenotype

PHENOTYPE: Homozygotes for a null allele show partial postnatal lethality, reduced body weight, ataxia, and alterations in lipid metabolism and photoreceptor cell development. Homozygotes for a different null allele show a leaky blood-brain barrier and increased CNS-endothelial-cell vesicular transcytosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 13,881,299	D1016E	probably damaging	Het
Aplnr	A	T	2: 85,136,673	Q14L	probably benign	Het
Aspm	T	C	1: 139,473,683	L1147S	probably damaging	Het
Atad2b	A	G	12: 4,952,642	T337A	possibly damaging	Het
Atrn	A	G	2: 131,023,027	E1358G	probably damaging	Het
Caml	C	A	13: 55,623,249	S53R	possibly damaging	Het
Cd180	T	G	13: 102,705,633	S396A	probably benign	Het
Cdhr2	A	G	13: 54,718,512	T344A	probably damaging	Het
Cyp4a31	A	C	4: 115,570,269	D224A	probably damaging	Het
Dhx36	T	C	3: 62,484,974	T544A	probably damaging	Het
Dnah14	A	G	1: 181,651,657	K1528E	probably damaging	Het
Dnpep	T	A	1: 75,315,378	K199N	probably benign	Het
Dsc2	C	T	18: 20,051,175		probably null	Het
Efl1	T	A	7: 82,674,568	D239E	probably damaging	Het
Elovl4	A	G	9: 83,785,178	V42A	possibly damaging	Het
Exoc3	T	C	13: 74,189,187	T432A	possibly damaging	Het
Fam98c	A	G	7: 29,156,128		probably null	Het
Fbln2	G	A	6: 91,233,272	G66D	probably damaging	Het
Fchsd1	G	A	18: 37,964,084	T410I	possibly damaging	Het
Flcn	T	C	11: 59,801,082	D247G	probably damaging	Het
Galnt16	T	C	12: 80,575,903	V127A	probably benign	Het
H2-Ob	A	T	17: 34,243,886		probably null	Het
Has2	G	A	15: 56,667,798	S507F	possibly damaging	Het
Ido2	T	A	8: 24,533,923	M300L	probably damaging	Het
Itga10	T	C	3: 96,658,041		probably null	Het
Klra9	G	T	6: 130,179,032	Y253*	probably null	Het
Mybpc1	T	C	10: 88,560,355	D210G	probably damaging	Het
Ndrg1	A	T	15: 66,933,872	M128K	probably damaging	Het
Obscn	T	A	11: 59,051,558	T5091S	probably benign	Het
Olfr137	A	G	17: 38,305,413	L16P	probably damaging	Het
Pex5	A	T	6: 124,413,613	M91K	possibly damaging	Het
Phlpp2	G	T	8: 109,934,685	A810S	probably benign	Het
Pla2g7	G	C	17: 43,599,126	A174P	probably damaging	Het
Plxna4	C	T	6: 32,215,678	V783M	probably damaging	Het
Poll	A	T	19: 45,553,604	M421K	probably benign	Het
Ppfia2	C	A	10: 106,913,698	S1148R	possibly damaging	Het
Prkg1	A	G	19: 30,781,346	F280S	probably benign	Het
Rdh10	G	A	1: 16,107,855	C117Y	probably damaging	Het
Rtl1	C	A	12: 109,595,196	A70S	unknown	Het
Scgb2b3	A	T	7: 31,359,067	L104I	probably benign	Het
Sh3tc1	T	C	5: 35,706,597	R749G	probably damaging	Het
Skint4	A	G	4: 112,146,510	K380R	probably benign	Het
Smtnl1	A	C	2: 84,818,368	S181A	probably benign	Het
Spata31d1b	T	C	13: 59,717,185	S716P	probably damaging	Het
Spc25	A	G	2: 69,206,102		probably benign	Het
Stab2	C	T	10: 86,901,567		probably null	Het
Timm22	T	C	11: 76,409,744	V114A	possibly damaging	Het
Timp4	A	G	6: 115,247,220	C163R	probably damaging	Het
Toporsl	T	A	4: 52,611,548	N480K	possibly damaging	Het
Tpo	T	C	12: 30,084,754	E735G	probably benign	Het
Trpm3	A	G	19: 22,901,305	D692G	probably damaging	Het
Ttn	T	C	2: 76,751,714	H22945R	probably damaging	Het
Vmn2r6	A	T	3: 64,547,380	Y499*	probably null	Het
Vwa1	G	A	4: 155,772,769	H191Y	probably benign	Het

Other mutations in Mfsd2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01631:Mfsd2a	APN	4	122949307	missense	probably benign	0.32
IGL02756:Mfsd2a	APN	4	122948539	missense	probably benign	0.30
azure	UTSW	4	122952021	missense	possibly damaging	0.66
R0355:Mfsd2a	UTSW	4	122951839	missense	possibly damaging	0.64
R0394:Mfsd2a	UTSW	4	122950168	missense	probably benign	0.26
R2002:Mfsd2a	UTSW	4	122956816	missense	probably damaging	1.00
R2516:Mfsd2a	UTSW	4	122950487	missense	probably damaging	1.00
R2943:Mfsd2a	UTSW	4	122948589	missense	possibly damaging	0.87
R3052:Mfsd2a	UTSW	4	122951842	missense	probably damaging	1.00
R4811:Mfsd2a	UTSW	4	122959382	missense	probably benign	0.28
R4977:Mfsd2a	UTSW	4	122950509	missense	probably benign
R5030:Mfsd2a	UTSW	4	122950156	missense	possibly damaging	0.90
R5231:Mfsd2a	UTSW	4	122959301	missense	possibly damaging	0.88
R5735:Mfsd2a	UTSW	4	122949327	missense	probably damaging	0.98
R6173:Mfsd2a	UTSW	4	122951246	missense	probably benign
R6321:Mfsd2a	UTSW	4	122949372	missense	probably benign	0.06
R6736:Mfsd2a	UTSW	4	122951261	missense	probably benign
R6793:Mfsd2a	UTSW	4	122950705	missense	probably benign	0.02
R7073:Mfsd2a	UTSW	4	122951295	missense	possibly damaging	0.91
R7255:Mfsd2a	UTSW	4	122952021	missense	possibly damaging	0.66
R7382:Mfsd2a	UTSW	4	122952123	missense	possibly damaging	0.53
R7868:Mfsd2a	UTSW	4	122956855	missense	possibly damaging	0.93
R8095:Mfsd2a	UTSW	4	122951271	missense	probably damaging	1.00
R8136:Mfsd2a	UTSW	4	122951867	missense	probably benign	0.27
R8140:Mfsd2a	UTSW	4	122949298	missense	probably benign	0.00
R8832:Mfsd2a	UTSW	4	122949309	missense	probably benign	0.01
R8842:Mfsd2a	UTSW	4	122951830	missense	probably damaging	0.98
R9048:Mfsd2a	UTSW	4	122960975	missense	probably benign
R9084:Mfsd2a	UTSW	4	122950201	missense	probably damaging	1.00
Z1176:Mfsd2a	UTSW	4	122951839	missense	probably benign	0.44
Z1176:Mfsd2a	UTSW	4	122959311	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- AAGTTACCCTCCACCAGCTG -3'
(R):5'- TCATTCTGATCCTAGGCGTGC -3'

Sequencing Primer
(F):5'- TCCACCAGCTGAGGCATG -3'
(R):5'- ATCCTAGGCGTGCGGGAG -3'

Posted On

2018-05-24