Incidental Mutation 'R7382:Mfsd2a'
ID 572786
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 045464-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # R7382 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 122840643-122854981 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122845916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 119 (I119N)
Ref Sequence ENSEMBL: ENSMUSP00000030408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030408] [ENSMUST00000127047]
AlphaFold Q9DA75
Predicted Effect possibly damaging
Transcript: ENSMUST00000030408
AA Change: I119N

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030408
Gene: ENSMUSG00000028655
AA Change: I119N

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (77/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik A T 10: 78,903,103 (GRCm39) H404Q probably damaging Het
Aadacl2fm2 T A 3: 59,651,037 (GRCm39) M53K probably benign Het
Adam8 T A 7: 139,570,020 (GRCm39) T82S possibly damaging Het
Adgrl2 T G 3: 148,522,919 (GRCm39) Q435P Het
Ahr A T 12: 35,554,514 (GRCm39) M535K probably damaging Het
Akap6 A G 12: 53,188,954 (GRCm39) I2123V probably benign Het
Ankrd2 G T 19: 42,033,411 (GRCm39) G318C Het
Ap4e1 T A 2: 126,850,822 (GRCm39) probably null Het
Atp8a2 G A 14: 59,892,043 (GRCm39) P1102S probably benign Het
Cacna2d4 C T 6: 119,216,048 (GRCm39) S105F probably damaging Het
Cad C A 5: 31,233,173 (GRCm39) P1872T probably benign Het
Catsperg1 A G 7: 28,904,269 (GRCm39) F251L probably benign Het
Ccdc18 C A 5: 108,286,873 (GRCm39) Q136K probably damaging Het
Cd163 A G 6: 124,288,271 (GRCm39) probably null Het
Cd209d A T 8: 3,927,965 (GRCm39) Y46* probably null Het
Cdk5rap2 A T 4: 70,208,262 (GRCm39) M728K probably benign Het
Cdon A G 9: 35,389,944 (GRCm39) D866G probably damaging Het
Cenpl A G 1: 160,906,031 (GRCm39) H135R probably benign Het
Cep20 TTGTG TTG 16: 14,118,009 (GRCm39) probably null Het
Clstn2 A T 9: 97,681,451 (GRCm39) L63* probably null Het
Cpeb4 A G 11: 31,822,828 (GRCm39) T181A probably damaging Het
Dlgap1 A G 17: 71,094,169 (GRCm39) E830G probably damaging Het
Endou T A 15: 97,616,807 (GRCm39) K239* probably null Het
Ezh2 T C 6: 47,528,770 (GRCm39) N263S possibly damaging Het
Fbxw2 T C 2: 34,697,314 (GRCm39) D351G probably benign Het
Fer1l4 A T 2: 155,862,669 (GRCm39) Y1720* probably null Het
Fmo9 A T 1: 166,491,229 (GRCm39) probably null Het
Frmpd1 T A 4: 45,278,880 (GRCm39) V535E probably benign Het
Fxr2 T C 11: 69,532,382 (GRCm39) V139A probably benign Het
Gpr180 T G 14: 118,400,035 (GRCm39) V401G possibly damaging Het
Heatr5b G T 17: 79,110,936 (GRCm39) R971S possibly damaging Het
Igkv8-34 C A 6: 70,021,103 (GRCm39) A120S probably benign Het
Inpp5b T A 4: 124,645,370 (GRCm39) H219Q probably benign Het
Itprid1 G T 6: 55,955,404 (GRCm39) G1004V probably benign Het
Kremen2 T C 17: 23,962,526 (GRCm39) probably null Het
Mael G A 1: 166,029,167 (GRCm39) P419S probably benign Het
Map1a A G 2: 121,121,266 (GRCm39) T102A probably damaging Het
Muc5b T C 7: 141,412,685 (GRCm39) V1877A unknown Het
Myo5c A C 9: 75,211,332 (GRCm39) S1733R probably damaging Het
Nelfcd T C 2: 174,265,176 (GRCm39) V248A probably benign Het
Npc1 A T 18: 12,334,763 (GRCm39) I663N probably damaging Het
Olig3 T A 10: 19,232,413 (GRCm39) S13T unknown Het
Or1j17 G T 2: 36,578,046 (GRCm39) E11* probably null Het
Or8k39 T C 2: 86,563,129 (GRCm39) I276V probably benign Het
Piezo2 A C 18: 63,150,590 (GRCm39) probably null Het
Pkd1l2 G T 8: 117,781,610 (GRCm39) L812M possibly damaging Het
Plcd1 G A 9: 118,903,759 (GRCm39) T387I probably damaging Het
Ppara C T 15: 85,671,429 (GRCm39) S110L probably damaging Het
Ranbp9 C T 13: 43,578,590 (GRCm39) R161Q probably damaging Het
Rufy2 G T 10: 62,833,748 (GRCm39) R270L probably benign Het
Septin12 C T 16: 4,806,346 (GRCm39) E272K probably damaging Het
Sgms1 T C 19: 32,137,182 (GRCm39) E128G possibly damaging Het
Sh3bgr G A 16: 96,007,093 (GRCm39) S21N probably benign Het
Sil1 A T 18: 35,458,466 (GRCm39) D176E probably benign Het
Slc13a2 A T 11: 78,295,621 (GRCm39) Y82N probably damaging Het
Slc41a1 C T 1: 131,774,370 (GRCm39) P479L probably damaging Het
Smarca4 A G 9: 21,570,229 (GRCm39) K744R probably damaging Het
Stxbp1 T C 2: 32,688,180 (GRCm39) D495G probably damaging Het
Sugp2 T C 8: 70,695,494 (GRCm39) S156P probably benign Het
Syt3 A T 7: 44,042,170 (GRCm39) D343V probably damaging Het
Tbl3 G T 17: 24,924,265 (GRCm39) T164N probably benign Het
Tbpl2 A T 2: 23,977,326 (GRCm39) probably null Het
Tcf7l2 T A 19: 55,915,172 (GRCm39) W461R unknown Het
Tmprss11c A T 5: 86,379,723 (GRCm39) F395Y probably benign Het
Tnc A T 4: 63,932,280 (GRCm39) Y711* probably null Het
Tnpo2 G A 8: 85,776,748 (GRCm39) R485H probably damaging Het
Ttc41 A G 10: 86,612,374 (GRCm39) K1216E probably damaging Het
Ube2q2 A C 9: 55,070,298 (GRCm39) D80A probably damaging Het
Ube2u A T 4: 100,389,379 (GRCm39) K227* probably null Het
Uhrf2 T C 19: 30,048,788 (GRCm39) Y265H possibly damaging Het
Vmn1r208 T G 13: 22,956,756 (GRCm39) Y247S probably damaging Het
Vmn2r27 A G 6: 124,174,276 (GRCm39) C525R probably damaging Het
Vps13a T C 19: 16,596,849 (GRCm39) T3090A probably damaging Het
Whrn T C 4: 63,336,573 (GRCm39) K674R probably benign Het
Zfp202 G T 9: 40,122,801 (GRCm39) R521I probably damaging Het
Zfp433 T C 10: 81,556,659 (GRCm39) V387A probably benign Het
Zpld1 T C 16: 55,067,046 (GRCm39) probably null Het
Other mutations in Mfsd2a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGCTGGTTAGATGCATGAGGC -3'
(R):5'- TCCAGGAACTTGCCCTAGTC -3'

Sequencing Primer
(F):5'- TGAGGCACGCAAAGGACCC -3'
(R):5'- CTAGTCGGTCCTTCAGGCATG -3'
Posted On 2019-09-13