Incidental Mutation 'R7073:Mfsd2a'
ID 549019
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 045169-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # R7073 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 122840643-122854981 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122845088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 208 (I208V)
Ref Sequence ENSEMBL: ENSMUSP00000030408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030408]
AlphaFold Q9DA75
Predicted Effect possibly damaging
Transcript: ENSMUST00000030408
AA Change: I208V

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030408
Gene: ENSMUSG00000028655
AA Change: I208V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T G 13: 81,709,593 (GRCm39) E1133D probably damaging Het
Ankrd13b A T 11: 77,363,335 (GRCm39) D505E probably benign Het
Ano1 C T 7: 144,192,289 (GRCm39) E361K probably damaging Het
Arap3 T A 18: 38,107,495 (GRCm39) K1341* probably null Het
Arhgef17 A C 7: 100,579,198 (GRCm39) Y583* probably null Het
Ash1l G A 3: 88,892,647 (GRCm39) E1509K probably damaging Het
B430305J03Rik T G 3: 61,271,681 (GRCm39) R21S unknown Het
Bbof1 A G 12: 84,473,609 (GRCm39) E313G probably damaging Het
Catsperb C T 12: 101,475,497 (GRCm39) T347I probably benign Het
Ccdc24 G T 4: 117,729,201 (GRCm39) A92D probably damaging Het
Ccdc63 T C 5: 122,249,073 (GRCm39) T419A probably benign Het
Ccdc7a C T 8: 129,618,866 (GRCm39) V893I possibly damaging Het
Ccdc88b G T 19: 6,831,330 (GRCm39) D537E probably benign Het
Cd276 T C 9: 58,444,615 (GRCm39) S119G probably damaging Het
Cdkn3 T C 14: 47,004,647 (GRCm39) Y70H possibly damaging Het
Cdo1 G A 18: 46,861,266 (GRCm39) probably benign Het
Cdr2 A T 7: 120,581,247 (GRCm39) F10Y probably damaging Het
Cep290 A T 10: 100,374,865 (GRCm39) K1370N possibly damaging Het
Crb1 T A 1: 139,176,049 (GRCm39) I645F probably damaging Het
Cul7 T C 17: 46,969,657 (GRCm39) W975R probably damaging Het
Ddx39b A C 17: 35,471,826 (GRCm39) E324A probably benign Het
Diaph1 T G 18: 38,022,867 (GRCm39) probably null Het
Dnah2 G A 11: 69,321,318 (GRCm39) R3917* probably null Het
Dnph1 T A 17: 46,807,815 (GRCm39) L27Q probably damaging Het
Duox2 A G 2: 122,119,788 (GRCm39) F880S probably damaging Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
Enpep A T 3: 129,106,319 (GRCm39) Y302* probably null Het
Ergic2 G T 6: 148,096,707 (GRCm39) H186Q probably damaging Het
Fam83b T C 9: 76,453,031 (GRCm39) D12G probably benign Het
Fbxw16 A T 9: 109,270,123 (GRCm39) V206D probably damaging Het
Fhod1 A T 8: 106,063,771 (GRCm39) V278D unknown Het
Gba2 G C 4: 43,573,753 (GRCm39) Q180E probably damaging Het
Grhl3 G A 4: 135,300,723 (GRCm39) L5F probably benign Het
H2-T15 A T 17: 36,369,235 (GRCm39) C7S unknown Het
Ifit1bl1 C T 19: 34,576,667 (GRCm39) probably null Het
Ift57 A G 16: 49,584,230 (GRCm39) T413A probably benign Het
Itga2 A G 13: 114,996,149 (GRCm39) F714S probably damaging Het
Jmy A G 13: 93,577,841 (GRCm39) S776P probably benign Het
Kbtbd8 G A 6: 95,098,814 (GRCm39) A108T probably damaging Het
Kpna6 G A 4: 129,548,139 (GRCm39) A230V probably damaging Het
Lrfn1 C T 7: 28,159,397 (GRCm39) L439F possibly damaging Het
Lrrc1 T A 9: 77,375,847 (GRCm39) I147F probably benign Het
Lrrc7 C T 3: 157,832,884 (GRCm39) G1425R probably damaging Het
Madd T A 2: 90,992,854 (GRCm39) I1022F probably damaging Het
Map2k2 A T 10: 80,942,017 (GRCm39) T13S probably benign Het
Mdc1 G A 17: 36,164,960 (GRCm39) V1459I probably benign Het
Mdh1b G A 1: 63,760,719 (GRCm39) T114M probably damaging Het
Mmrn1 T A 6: 60,965,411 (GRCm39) D1147E probably damaging Het
Nbeal2 T A 9: 110,455,177 (GRCm39) I2574F probably damaging Het
Nr1d1 T G 11: 98,662,892 (GRCm39) S34R probably damaging Het
Nr3c1 A T 18: 39,619,449 (GRCm39) D279E probably benign Het
Nrde2 T C 12: 100,098,747 (GRCm39) D640G probably benign Het
Odf4 A G 11: 68,817,514 (GRCm39) L58P probably damaging Het
Or4k41 A T 2: 111,279,631 (GRCm39) I49F probably benign Het
Or4p22 A T 2: 88,317,651 (GRCm39) I192F probably benign Het
Otud6b A C 4: 14,811,743 (GRCm39) M300R probably damaging Het
Pamr1 T A 2: 102,471,280 (GRCm39) D534E probably benign Het
Pcdh7 T A 5: 57,878,299 (GRCm39) V618E probably benign Het
Pcgf6 A C 19: 47,031,226 (GRCm39) N266K possibly damaging Het
Plcz1 A T 6: 139,968,849 (GRCm39) Y196* probably null Het
Plxna1 A T 6: 89,334,311 (GRCm39) L106Q probably damaging Het
Qrich2 G A 11: 116,337,701 (GRCm39) A184V probably damaging Het
Rimkla A G 4: 119,325,275 (GRCm39) L378S probably benign Het
Rufy1 G T 11: 50,295,290 (GRCm39) H472Q probably benign Het
Samd7 T A 3: 30,810,631 (GRCm39) M216K probably benign Het
Samd9l A T 6: 3,375,856 (GRCm39) Y468* probably null Het
Scn2a T G 2: 65,558,787 (GRCm39) L1194R probably benign Het
Sgo2a T A 1: 58,056,944 (GRCm39) S1043T possibly damaging Het
Slc6a17 G T 3: 107,378,755 (GRCm39) H642Q probably benign Het
Smox C T 2: 131,364,031 (GRCm39) A45V possibly damaging Het
St6galnac3 T A 3: 153,117,274 (GRCm39) T150S possibly damaging Het
Strip2 T A 6: 29,941,911 (GRCm39) I627N possibly damaging Het
Sv2c A T 13: 96,224,758 (GRCm39) C184S probably damaging Het
Tm7sf2 A T 19: 6,116,527 (GRCm39) probably null Het
Ttc28 T C 5: 111,371,282 (GRCm39) I608T possibly damaging Het
Vmn1r183 T G 7: 23,754,926 (GRCm39) L243R probably damaging Het
Vmn1r68 T C 7: 10,261,778 (GRCm39) T107A probably benign Het
Vnn3 G A 10: 23,740,311 (GRCm39) G205R probably damaging Het
Zfp516 T A 18: 83,006,325 (GRCm39) probably null Het
Zpbp2 A G 11: 98,443,335 (GRCm39) D56G probably damaging 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
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'- ACTACGTAGTGTGTGACCCCAC -3'
(R):5'- TGAAATGTCAACTGCCCCAC -3'

Sequencing Primer
(F):5'- AATTGCTGCAACTCACTGGG -3'
(R):5'- CCCCCTAGCCCAACTAACCTG -3'
Posted On 2019-05-15