Incidental Mutation 'R6433:Mfsd2a'
ID 518632
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 044571-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # R6433 (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 G at 122844250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 299 (V299A)
Ref Sequence ENSEMBL: ENSMUSP00000030408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030408]
AlphaFold Q9DA75
Predicted Effect probably benign
Transcript: ENSMUST00000030408
AA Change: V299A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000030408
Gene: ENSMUSG00000028655
AA Change: V299A

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 noncoding transcript
Transcript: ENSMUST00000152308
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T A 17: 14,101,561 (GRCm39) D1016E probably damaging Het
Aplnr A T 2: 84,967,017 (GRCm39) Q14L probably benign Het
Aspm T C 1: 139,401,421 (GRCm39) L1147S probably damaging Het
Atad2b A G 12: 5,002,642 (GRCm39) T337A possibly damaging Het
Atrn A G 2: 130,864,947 (GRCm39) E1358G probably damaging Het
Caml C A 13: 55,771,062 (GRCm39) S53R possibly damaging Het
Cd180 T G 13: 102,842,141 (GRCm39) S396A probably benign Het
Cdhr2 A G 13: 54,866,325 (GRCm39) T344A probably damaging Het
Cyp4a31 A C 4: 115,427,466 (GRCm39) D224A probably damaging Het
Dhx36 T C 3: 62,392,395 (GRCm39) T544A probably damaging Het
Dnah14 A G 1: 181,479,222 (GRCm39) K1528E probably damaging Het
Dnpep T A 1: 75,292,022 (GRCm39) K199N probably benign Het
Dsc2 C T 18: 20,184,232 (GRCm39) probably null Het
Efl1 T A 7: 82,323,776 (GRCm39) D239E probably damaging Het
Elovl4 A G 9: 83,667,231 (GRCm39) V42A possibly damaging Het
Exoc3 T C 13: 74,337,306 (GRCm39) T432A possibly damaging Het
Fam98c A G 7: 28,855,553 (GRCm39) probably null Het
Fbln2 G A 6: 91,210,254 (GRCm39) G66D probably damaging Het
Fchsd1 G A 18: 38,097,137 (GRCm39) T410I possibly damaging Het
Flcn T C 11: 59,691,908 (GRCm39) D247G probably damaging Het
Galnt16 T C 12: 80,622,677 (GRCm39) V127A probably benign Het
H2-Ob A T 17: 34,462,860 (GRCm39) probably null Het
Has2 G A 15: 56,531,194 (GRCm39) S507F possibly damaging Het
Ido2 T A 8: 25,023,939 (GRCm39) M300L probably damaging Het
Itga10 T C 3: 96,565,357 (GRCm39) probably null Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Mybpc1 T C 10: 88,396,217 (GRCm39) D210G probably damaging Het
Ndrg1 A T 15: 66,805,721 (GRCm39) M128K probably damaging Het
Obscn T A 11: 58,942,384 (GRCm39) T5091S probably benign Het
Or2j3 A G 17: 38,616,304 (GRCm39) L16P probably damaging Het
Pex5 A T 6: 124,390,572 (GRCm39) M91K possibly damaging Het
Phlpp2 G T 8: 110,661,317 (GRCm39) A810S probably benign Het
Pla2g7 G C 17: 43,910,017 (GRCm39) A174P probably damaging Het
Plxna4 C T 6: 32,192,613 (GRCm39) V783M probably damaging Het
Poll A T 19: 45,542,043 (GRCm39) M421K probably benign Het
Ppfia2 C A 10: 106,749,559 (GRCm39) S1148R possibly damaging Het
Prkg1 A G 19: 30,758,746 (GRCm39) F280S probably benign Het
Rdh10 G A 1: 16,178,079 (GRCm39) C117Y probably damaging Het
Rtl1 C A 12: 109,561,630 (GRCm39) A70S unknown Het
Scgb2b3 A T 7: 31,058,492 (GRCm39) L104I probably benign Het
Sh3tc1 T C 5: 35,863,941 (GRCm39) R749G probably damaging Het
Skint4 A G 4: 112,003,707 (GRCm39) K380R probably benign Het
Smtnl1 A C 2: 84,648,712 (GRCm39) S181A probably benign Het
Spata31d1b T C 13: 59,864,999 (GRCm39) S716P probably damaging Het
Spc25 A G 2: 69,036,446 (GRCm39) probably benign Het
Stab2 C T 10: 86,737,431 (GRCm39) probably null Het
Timm22 T C 11: 76,300,570 (GRCm39) V114A possibly damaging Het
Timp4 A G 6: 115,224,181 (GRCm39) C163R probably damaging Het
Toporsl T A 4: 52,611,548 (GRCm39) N480K possibly damaging Het
Tpo T C 12: 30,134,753 (GRCm39) E735G probably benign Het
Trpm3 A G 19: 22,878,669 (GRCm39) D692G probably damaging Het
Ttn T C 2: 76,582,058 (GRCm39) H22945R probably damaging Het
Vmn2r6 A T 3: 64,454,801 (GRCm39) Y499* probably null Het
Vwa1 G A 4: 155,857,226 (GRCm39) H191Y probably benign 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
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'- AAGTTACCCTCCACCAGCTG -3'
(R):5'- TCATTCTGATCCTAGGCGTGC -3'

Sequencing Primer
(F):5'- TCCACCAGCTGAGGCATG -3'
(R):5'- ATCCTAGGCGTGCGGGAG -3'
Posted On 2018-05-24