Mutagenetix > Incidental Mutations

Incidental Mutation 'R8136:Mfsd2a'

632252

Institutional Source

Beutler Lab

Gene Symbol

Mfsd2a

Ensembl Gene

ENSMUSG00000028655

Gene Name

major facilitator superfamily domain containing 2A

Synonyms

1700018O18Rik, Mfsd2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R8136 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122946850-122961188 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122951867 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 164 (C164S)

Ref Sequence

ENSEMBL: ENSMUSP00000030408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030408] [ENSMUST00000127047]

AlphaFold

Q9DA75

Predicted Effect

probably benign
Transcript: ENSMUST00000030408
AA Change: C164S

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000030408
Gene: ENSMUSG00000028655
AA Change: C164S

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

probably benign
Transcript: ENSMUST00000127047

SMART Domains

Protein: ENSMUSP00000116782
Gene: ENSMUSG00000028655

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	27	38	N/A	INTRINSIC
Pfam:MFS_2	42	106	2.7e-15	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 96.7%

Validation Efficiency

98% (40/41)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,248,397	M2462L	probably benign	Het
Aptx	A	G	4: 40,688,107		probably null	Het
Bmpr1b	A	G	3: 141,856,382	I348T	probably damaging	Het
Btnl1	T	A	17: 34,380,040		probably null	Het
Col27a1	T	A	4: 63,283,953	D960E	probably benign	Het
Crygn	G	T	5: 24,751,092	R172S	probably benign	Het
Cyp26a1	T	C	19: 37,701,206	I450T	probably benign	Het
Emc2	A	G	15: 43,511,806	Y233C	probably benign	Het
Esyt2	C	A	12: 116,363,459	T549K	probably benign	Het
Fam71e1	T	C	7: 44,500,280	F142L	probably damaging	Het
Gatm	T	C	2: 122,595,537	D411G	probably damaging	Het
Gpr65	T	C	12: 98,275,156	Y23H	probably damaging	Het
Itpr1	A	G	6: 108,438,360	R1752G	probably benign	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Mcm9	A	G	10: 53,611,343	*543Q	probably null	Het
Mta1	C	A	12: 113,131,678	R484S	probably damaging	Het
Nlrp9a	T	G	7: 26,557,253	F99V	probably benign	Het
Notch2	G	A	3: 98,124,221	C1137Y	probably damaging	Het
Olfr575	A	T	7: 102,955,241	M120K	probably damaging	Het
Pcnx	A	G	12: 81,918,006	T316A	probably benign	Het
Phf11a	A	G	14: 59,277,569	V221A	probably benign	Het
Pigb	A	G	9: 73,022,320	L327P	possibly damaging	Het
Rab3c	A	T	13: 110,181,020	Y110*	probably null	Het
Sdk2	G	A	11: 113,851,713	T790M	probably damaging	Het
Slc22a2	C	T	17: 12,606,030	P260S	probably damaging	Het
Sppl2a	T	C	2: 126,913,281		probably null	Het
Tmem189	A	C	2: 167,644,959	Y167D	probably benign	Het
Tnn	T	A	1: 160,107,060	Q1261L	probably damaging	Het
Treml4	C	A	17: 48,264,717	Y49*	probably null	Het
Ttc37	A	G	13: 76,113,103	K131R	probably benign	Het
Ubr3	T	C	2: 70,021,179	I1827T	probably damaging	Het
Vrtn	C	T	12: 84,650,035	R520C	probably damaging	Het
Wipf1	G	A	2: 73,437,535	P173L	possibly damaging	Het
Wls	C	A	3: 159,873,124	Q108K	probably damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp39	A	T	11: 58,891,402	V178D	probably damaging	Het
Zfp777	C	A	6: 48,044,625	R21L	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
R6433:Mfsd2a	UTSW	4	122950457	missense	probably benign	0.01
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
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'- GGGCAGTTGACATTTCAGCC -3'
(R):5'- ACGGCTTCCTTTGGTACCTG -3'

Sequencing Primer
(F):5'- TGCTTGACAGACACAAGGCTCTAG -3'
(R):5'- CCTTGGTACCTTGGTGAG -3'

Posted On

2020-06-30