Mutagenetix > Incidental Mutation

Incidental Mutation 'R2002:Mfsd2a'

223158

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

040012-MU

Accession Numbers

Essential gene?

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

Stock #

R2002 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122840643-122854981 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122850609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 88 (R88Q)

Ref Sequence

ENSEMBL: ENSMUSP00000116782 (fasta)

Gene Model

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

AlphaFold

Q9DA75

Predicted Effect

probably damaging
Transcript: ENSMUST00000030408
AA Change: R89Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030408
Gene: ENSMUSG00000028655
AA Change: R89Q

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 damaging
Transcript: ENSMUST00000127047
AA Change: R88Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116782
Gene: ENSMUSG00000028655
AA Change: R88Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152308

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.6%

Validation Efficiency

97% (72/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548G14Rik	T	C	15: 46,489,002 (GRCm39)		noncoding transcript	Het
Abcb4	T	A	5: 8,955,989 (GRCm39)	S98T	probably benign	Het
Acan	T	C	7: 78,750,541 (GRCm39)	S1771P	probably damaging	Het
Acvr1c	T	A	2: 58,205,987 (GRCm39)	Q41L	probably benign	Het
Ak2	T	A	4: 128,902,022 (GRCm39)	S232T	probably benign	Het
Akr1e1	T	A	13: 4,657,564 (GRCm39)		probably benign	Het
Ano7	T	C	1: 93,328,303 (GRCm39)		probably benign	Het
Aox1	T	A	1: 58,086,300 (GRCm39)	H68Q	possibly damaging	Het
Apaf1	A	G	10: 90,897,676 (GRCm39)	V269A	possibly damaging	Het
Apba2	A	T	7: 64,383,290 (GRCm39)	I368F	probably damaging	Het
Armc3	A	G	2: 19,293,747 (GRCm39)	M513V	probably benign	Het
Asb5	G	A	8: 55,036,655 (GRCm39)	V116M	probably damaging	Het
Atg16l2	A	G	7: 100,944,127 (GRCm39)	S280P	possibly damaging	Het
Atp6v0c	G	T	17: 24,383,835 (GRCm39)	T40K	probably damaging	Het
Cdk2ap2	A	G	19: 4,147,903 (GRCm39)	M57V	possibly damaging	Het
Cip2a	T	C	16: 48,826,214 (GRCm39)		probably benign	Het
Ctnnd1	T	C	2: 84,450,704 (GRCm39)	N172S	probably benign	Het
Ddx55	T	A	5: 124,704,503 (GRCm39)	V370E	probably damaging	Het
Ddx6	A	G	9: 44,518,831 (GRCm39)	T48A	probably benign	Het
Dnah10	C	T	5: 124,911,052 (GRCm39)	R4490W	probably damaging	Het
Dspp	T	A	5: 104,326,425 (GRCm39)	S929R	unknown	Het
Erbb3	T	C	10: 128,422,094 (GRCm39)	Y50C	probably benign	Het
Fam209	C	A	2: 172,314,689 (GRCm39)	N59K	probably benign	Het
Fgd3	T	C	13: 49,449,931 (GRCm39)	E106G	probably benign	Het
Frmd4a	A	C	2: 4,577,176 (GRCm39)	K344T	probably damaging	Het
Gbe1	A	G	16: 70,325,814 (GRCm39)	E617G	probably damaging	Het
Gm5089	T	A	14: 122,673,686 (GRCm39)	I12F	unknown	Het
Gm7052	T	A	17: 22,258,920 (GRCm39)		probably benign	Het
Gria1	A	T	11: 56,902,930 (GRCm39)	N24I	possibly damaging	Het
Grin2b	T	C	6: 135,710,243 (GRCm39)	E1101G	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Kcnma1	A	C	14: 23,387,097 (GRCm39)	S982A	probably damaging	Het
Khdrbs3	T	A	15: 68,885,328 (GRCm39)		probably benign	Het
Kif23	A	T	9: 61,834,666 (GRCm39)	C426*	probably null	Het
Lmo7	G	T	14: 102,124,497 (GRCm39)	A319S	probably benign	Het
Ly6c1	T	A	15: 74,920,342 (GRCm39)	T7S	possibly damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Mamdc4	A	T	2: 25,457,244 (GRCm39)	W548R	probably damaging	Het
Mkrn1	T	C	6: 39,382,737 (GRCm39)	T158A	probably benign	Het
Mroh2b	G	T	15: 4,955,166 (GRCm39)	D720Y	probably damaging	Het
Mycbp2	A	G	14: 103,485,839 (GRCm39)	V1041A	probably damaging	Het
Ncam2	A	T	16: 81,386,586 (GRCm39)	H655L	possibly damaging	Het
Npas2	T	C	1: 39,377,276 (GRCm39)	V546A	probably benign	Het
Nrxn3	G	A	12: 90,299,089 (GRCm39)	A400T	probably damaging	Het
Oog3	G	T	4: 143,884,675 (GRCm39)	H420Q	possibly damaging	Het
Or3a10	A	T	11: 73,935,865 (GRCm39)	S78R	possibly damaging	Het
Or5ap2	T	A	2: 85,680,744 (GRCm39)	V316E	probably benign	Het
Or8k28	T	C	2: 86,285,817 (GRCm39)	H266R	probably benign	Het
Pak5	T	A	2: 135,958,557 (GRCm39)	H177L	probably benign	Het
Pcca	A	G	14: 123,124,477 (GRCm39)	I683V	probably benign	Het
Pea15a	T	C	1: 172,026,252 (GRCm39)	I90V	probably benign	Het
Plagl1	C	A	10: 13,004,402 (GRCm39)		probably benign	Het
Prmt1	A	G	7: 44,628,148 (GRCm39)	V237A	probably damaging	Het
Ptprz1	T	A	6: 23,027,833 (GRCm39)	Y910*	probably null	Het
Rasal3	T	A	17: 32,612,585 (GRCm39)	T757S	probably damaging	Het
Rbbp8	T	C	18: 11,860,223 (GRCm39)		probably benign	Het
S1pr1	A	G	3: 115,506,544 (GRCm39)	S17P	probably benign	Het
Scel	G	A	14: 103,779,421 (GRCm39)	V131M	probably damaging	Het
Scn2a	G	A	2: 65,512,427 (GRCm39)	R188Q	probably null	Het
Snap29	T	A	16: 17,224,190 (GRCm39)	Y68*	probably null	Het
Spdl1	T	C	11: 34,713,473 (GRCm39)	T199A	probably benign	Het
Srbd1	T	C	17: 86,449,828 (GRCm39)	N14D	probably benign	Het
Ston1	G	A	17: 88,942,957 (GRCm39)	G121D	probably benign	Het
Syt16	G	A	12: 74,281,977 (GRCm39)	G367E	possibly damaging	Het
Tdpoz1	T	C	3: 93,578,710 (GRCm39)	T25A	possibly damaging	Het
Tmem182	T	A	1: 40,845,355 (GRCm39)	Y77N	probably damaging	Het
Tmprss11f	A	T	5: 86,687,627 (GRCm39)		probably benign	Het
Trp73	T	C	4: 154,165,902 (GRCm39)	T56A	probably damaging	Het
Trpm3	A	G	19: 22,959,947 (GRCm39)	K1194R	probably damaging	Het
Ttc39c	T	A	18: 12,830,935 (GRCm39)		probably null	Het
Ube4b	T	C	4: 149,468,254 (GRCm39)	D174G	probably benign	Het
Vmn1r211	A	T	13: 23,035,953 (GRCm39)	M238K	probably damaging	Het
Wsb2	T	A	5: 117,508,798 (GRCm39)	N77K	probably benign	Het
Xkr4	C	T	1: 3,741,318 (GRCm39)	R85Q	probably benign	Het
Zmynd11	T	A	13: 9,739,514 (GRCm39)		probably null	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
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
R6321:Mfsd2a	UTSW	4	122,843,165 (GRCm39)	missense	probably benign	0.06
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'- TCCAACCTGTGACAAGAGATG -3'
(R):5'- TGCTAGTGTCACTATTAAGACAGTG -3'

Sequencing Primer
(F):5'- TGGAGGAGGACTTGGGC -3'
(R):5'- TTTACAGAGCGACTTCCAGG -3'

Posted On

2014-08-25