Mutagenetix > Incidental Mutation

Incidental Mutation 'R6321:Mfsd2a'

510336

Institutional Source

Beutler Lab

Gene Symbol

Mfsd2a

Ensembl Gene

ENSMUSG00000028655

Gene Name

MFSD2 lysolipid transporter A, lysophospholipid

Synonyms

1700018O18Rik, Mfsd2, major facilitator superfamily domain containing 2A

MMRRC Submission

044418-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

R6321 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122840643-122854981 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122843165 bp (GRCm39)

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

Meta Mutation Damage Score

0.1038

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
Actbl2	G	T	13: 111,391,915 (GRCm39)	M83I	probably damaging	Het
Adgra2	T	A	8: 27,604,190 (GRCm39)	M460K	probably benign	Het
Aldh16a1	G	A	7: 44,799,189 (GRCm39)	A31V	probably damaging	Het
Ank2	T	C	3: 126,740,587 (GRCm39)		probably benign	Het
Arrdc4	C	A	7: 68,398,793 (GRCm39)	D8Y	probably benign	Het
Auts2	A	G	5: 131,494,953 (GRCm39)	Y110H	probably damaging	Het
Blnk	A	T	19: 40,922,903 (GRCm39)	Y405N	probably damaging	Het
Capsl	T	C	15: 9,461,855 (GRCm39)	F84L	probably damaging	Het
Cdcp3	T	C	7: 130,858,735 (GRCm39)		probably null	Het
Cenpl	T	C	1: 160,902,465 (GRCm39)	S46P	probably benign	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Chrnd	C	T	1: 87,119,951 (GRCm39)	R90C	probably damaging	Het
Cyfip2	A	T	11: 46,182,347 (GRCm39)	M37K	probably benign	Het
Dnah11	T	C	12: 118,106,027 (GRCm39)	E625G	possibly damaging	Het
Dnah5	T	G	15: 28,372,557 (GRCm39)	V2936G	probably damaging	Het
Dock9	A	G	14: 121,783,433 (GRCm39)	M2055T	probably damaging	Het
Epb41l2	A	T	10: 25,344,026 (GRCm39)	R274S	probably damaging	Het
Erich3	A	T	3: 154,433,139 (GRCm39)	H371L	probably damaging	Het
Evi5l	C	A	8: 4,253,080 (GRCm39)	P454T	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Golgb1	T	A	16: 36,738,559 (GRCm39)	C2299*	probably null	Het
Heca	G	C	10: 17,790,991 (GRCm39)		probably null	Het
Hecw1	C	T	13: 14,697,414 (GRCm39)	A9T	probably benign	Het
Hs3st6	T	A	17: 24,977,542 (GRCm39)	W341R	probably damaging	Het
Kidins220	C	T	12: 25,107,533 (GRCm39)	S1571L	probably benign	Het
Klk1b9	A	G	7: 43,443,732 (GRCm39)	E82G	probably damaging	Het
Ltbp3	C	A	19: 5,795,685 (GRCm39)	H180Q	probably benign	Het
Mecom	A	G	3: 30,034,741 (GRCm39)	Y502H	probably damaging	Het
Mrgprd	A	G	7: 144,875,879 (GRCm39)	D250G	probably benign	Het
Muc2	A	G	7: 141,287,397 (GRCm39)	D191G	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naip6	C	A	13: 100,436,909 (GRCm39)	S538I	probably benign	Het
Or4f59	A	G	2: 111,873,113 (GRCm39)	V88A	probably benign	Het
Or52w1	A	G	7: 105,018,109 (GRCm39)	Y192C	probably damaging	Het
Pnpla6	T	C	8: 3,594,015 (GRCm39)	V1342A	probably benign	Het
Ppp1r9a	A	G	6: 5,115,151 (GRCm39)	E789G	probably damaging	Het
Prkdc	A	G	16: 15,532,783 (GRCm39)	T1471A	probably benign	Het
Scarb1	T	A	5: 125,381,395 (GRCm39)	S50C	probably damaging	Het
Slc4a8	C	T	15: 100,687,045 (GRCm39)	T283M	probably damaging	Het
Smc2	C	A	4: 52,462,814 (GRCm39)	D601E	probably benign	Het
Snx6	C	A	12: 54,798,798 (GRCm39)	V221F	probably damaging	Het
Spag17	A	C	3: 99,995,743 (GRCm39)	K1794T	probably benign	Het
Tpo	A	G	12: 30,153,107 (GRCm39)	W416R	probably damaging	Het
Ttc13	C	A	8: 125,409,930 (GRCm39)	K427N	probably damaging	Het
Upf3a	A	T	8: 13,837,466 (GRCm39)	N137I	possibly damaging	Het
Ush2a	C	T	1: 188,581,243 (GRCm39)	Q3708*	probably null	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zfp451	A	G	1: 33,852,816 (GRCm39)	F33L	probably damaging	Het
Zfp454	A	G	11: 50,763,876 (GRCm39)	F408L	probably damaging	Het
Zfp639	T	C	3: 32,571,237 (GRCm39)	Y40H	probably damaging	Het

Other mutations in Mfsd2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01631:Mfsd2a	APN	4	122,843,100 (GRCm39)	missense	probably benign	0.32
IGL02756:Mfsd2a	APN	4	122,842,332 (GRCm39)	missense	probably benign	0.30
azure	UTSW	4	122,845,814 (GRCm39)	missense	possibly damaging	0.66
R0355:Mfsd2a	UTSW	4	122,845,632 (GRCm39)	missense	possibly damaging	0.64
R0394:Mfsd2a	UTSW	4	122,843,961 (GRCm39)	missense	probably benign	0.26
R2002:Mfsd2a	UTSW	4	122,850,609 (GRCm39)	missense	probably damaging	1.00
R2516:Mfsd2a	UTSW	4	122,844,280 (GRCm39)	missense	probably damaging	1.00
R2943:Mfsd2a	UTSW	4	122,842,382 (GRCm39)	missense	possibly damaging	0.87
R3052:Mfsd2a	UTSW	4	122,845,635 (GRCm39)	missense	probably damaging	1.00
R4811:Mfsd2a	UTSW	4	122,853,175 (GRCm39)	missense	probably benign	0.28
R4977:Mfsd2a	UTSW	4	122,844,302 (GRCm39)	missense	probably benign
R5030:Mfsd2a	UTSW	4	122,843,949 (GRCm39)	missense	possibly damaging	0.90
R5231:Mfsd2a	UTSW	4	122,853,094 (GRCm39)	missense	possibly damaging	0.88
R5735:Mfsd2a	UTSW	4	122,843,120 (GRCm39)	missense	probably damaging	0.98
R6173:Mfsd2a	UTSW	4	122,845,039 (GRCm39)	missense	probably benign
R6433:Mfsd2a	UTSW	4	122,844,250 (GRCm39)	missense	probably benign	0.01
R6736:Mfsd2a	UTSW	4	122,845,054 (GRCm39)	missense	probably benign
R6793:Mfsd2a	UTSW	4	122,844,498 (GRCm39)	missense	probably benign	0.02
R7073:Mfsd2a	UTSW	4	122,845,088 (GRCm39)	missense	possibly damaging	0.91
R7255:Mfsd2a	UTSW	4	122,845,814 (GRCm39)	missense	possibly damaging	0.66
R7382:Mfsd2a	UTSW	4	122,845,916 (GRCm39)	missense	possibly damaging	0.53
R7868:Mfsd2a	UTSW	4	122,850,648 (GRCm39)	missense	possibly damaging	0.93
R8095:Mfsd2a	UTSW	4	122,845,064 (GRCm39)	missense	probably damaging	1.00
R8136:Mfsd2a	UTSW	4	122,845,660 (GRCm39)	missense	probably benign	0.27
R8140:Mfsd2a	UTSW	4	122,843,091 (GRCm39)	missense	probably benign	0.00
R8832:Mfsd2a	UTSW	4	122,843,102 (GRCm39)	missense	probably benign	0.01
R8842:Mfsd2a	UTSW	4	122,845,623 (GRCm39)	missense	probably damaging	0.98
R9048:Mfsd2a	UTSW	4	122,854,768 (GRCm39)	missense	probably benign
R9084:Mfsd2a	UTSW	4	122,843,994 (GRCm39)	missense	probably damaging	1.00
Z1176:Mfsd2a	UTSW	4	122,853,104 (GRCm39)	missense	possibly damaging	0.71
Z1176:Mfsd2a	UTSW	4	122,845,632 (GRCm39)	missense	probably benign	0.44

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