Mutagenetix > Incidental Mutations

Incidental Mutation 'R6321:Mfsd2a'

510336

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: 0.136) question?

Stock #

R6321 (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 122949372 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 372 (V372A)

Ref Sequence

ENSEMBL: ENSMUSP00000030408 (fasta)

Gene Model

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

AlphaFold

Q9DA75

Predicted Effect

probably benign
Transcript: ENSMUST00000030408
AA Change: V372A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000030408
Gene: ENSMUSG00000028655
AA Change: V372A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	T	C	7: 131,257,006		probably null	Het
Actbl2	G	T	13: 111,255,381	M83I	probably damaging	Het
Adgra2	T	A	8: 27,114,162	M460K	probably benign	Het
Aldh16a1	G	A	7: 45,149,765	A31V	probably damaging	Het
Ank2	T	C	3: 126,946,938		probably benign	Het
Arrdc4	C	A	7: 68,749,045	D8Y	probably benign	Het
Auts2	A	G	5: 131,466,115	Y110H	probably damaging	Het
Blnk	A	T	19: 40,934,459	Y405N	probably damaging	Het
Capsl	T	C	15: 9,461,769	F84L	probably damaging	Het
Cenpl	T	C	1: 161,074,895	S46P	probably benign	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Chrnd	C	T	1: 87,192,229	R90C	probably damaging	Het
Cyfip2	A	T	11: 46,291,520	M37K	probably benign	Het
Dnah11	T	C	12: 118,142,292	E625G	possibly damaging	Het
Dnah5	T	G	15: 28,372,411	V2936G	probably damaging	Het
Dock9	A	G	14: 121,546,021	M2055T	probably damaging	Het
Epb41l2	A	T	10: 25,468,128	R274S	probably damaging	Het
Erich3	A	T	3: 154,727,502	H371L	probably damaging	Het
Evi5l	C	A	8: 4,203,080	P454T	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Golgb1	T	A	16: 36,918,197	C2299*	probably null	Het
Heca	G	C	10: 17,915,243		probably null	Het
Hecw1	C	T	13: 14,522,829	A9T	probably benign	Het
Hs3st6	T	A	17: 24,758,568	W341R	probably damaging	Het
Kidins220	C	T	12: 25,057,534	S1571L	probably benign	Het
Klk9	A	G	7: 43,794,308	E82G	probably damaging	Het
Ltbp3	C	A	19: 5,745,657	H180Q	probably benign	Het
Mecom	A	G	3: 29,980,592	Y502H	probably damaging	Het
Mrgprd	A	G	7: 145,322,142	D250G	probably benign	Het
Muc2	A	G	7: 141,700,828	D191G	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Naip6	C	A	13: 100,300,401	S538I	probably benign	Het
Olfr1312	A	G	2: 112,042,768	V88A	probably benign	Het
Olfr692	A	G	7: 105,368,902	Y192C	probably damaging	Het
Pnpla6	T	C	8: 3,544,015	V1342A	probably benign	Het
Ppp1r9a	A	G	6: 5,115,151	E789G	probably damaging	Het
Prkdc	A	G	16: 15,714,919	T1471A	probably benign	Het
Scarb1	T	A	5: 125,304,331	S50C	probably damaging	Het
Slc4a8	C	T	15: 100,789,164	T283M	probably damaging	Het
Smc2	C	A	4: 52,462,814	D601E	probably benign	Het
Snx6	C	A	12: 54,752,013	V221F	probably damaging	Het
Spag17	A	C	3: 100,088,427	K1794T	probably benign	Het
Tpo	A	G	12: 30,103,108	W416R	probably damaging	Het
Ttc13	C	A	8: 124,683,191	K427N	probably damaging	Het
Upf3a	A	T	8: 13,787,466	N137I	possibly damaging	Het
Ush2a	C	T	1: 188,849,046	Q3708*	probably null	Het
Zbtb17	G	A	4: 141,463,383	G171S	probably benign	Het
Zfp451	A	G	1: 33,813,735	F33L	probably damaging	Het
Zfp454	A	G	11: 50,873,049	F408L	probably damaging	Het
Zfp639	T	C	3: 32,517,088	Y40H	probably damaging	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
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
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'- ATCACCGTATCAGGCAGACC -3'
(R):5'- TCACCATCCCTATCTGGCAG -3'

Sequencing Primer
(F):5'- GTATCAGGCAGACCCACCTC -3'
(R):5'- ATCTGGCAGTGGTTCCTAAC -3'

Posted On

2018-04-02