Incidental Mutation 'R3052:Mfsd2a'
ID 264984
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 040561-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # R3052 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 122840643-122854981 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122845635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 172 (L172P)
Ref Sequence ENSEMBL: ENSMUSP00000030408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030408] [ENSMUST00000127047]
AlphaFold Q9DA75
Predicted Effect probably damaging
Transcript: ENSMUST00000030408
AA Change: L172P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030408
Gene: ENSMUSG00000028655
AA Change: L172P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152308
Meta Mutation Damage Score 0.9297 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 100% (38/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 G A 8: 46,974,374 (GRCm39) V330I probably benign Het
Adcy5 T C 16: 35,124,086 (GRCm39) L1255P probably damaging Het
Ampd2 C T 3: 107,993,803 (GRCm39) probably benign Het
Asb18 T A 1: 89,920,707 (GRCm39) H149L probably damaging Het
Atp8b1 T C 18: 64,686,179 (GRCm39) E668G probably benign Het
Axdnd1 T C 1: 156,169,440 (GRCm39) T809A probably damaging Het
B430306N03Rik T C 17: 48,623,938 (GRCm39) S80P probably damaging Het
Banp G A 8: 122,732,426 (GRCm39) probably null Het
Capn2 G A 1: 182,315,337 (GRCm39) T306M probably benign Het
Ccpg1 A T 9: 72,913,150 (GRCm39) S229C probably damaging Het
Cep250 G T 2: 155,832,968 (GRCm39) S1630I probably damaging Het
Ces1g C A 8: 94,061,676 (GRCm39) V77L possibly damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Col6a3 T A 1: 90,729,852 (GRCm39) H1211L possibly damaging Het
Cyp2a5 A G 7: 26,542,410 (GRCm39) I471V possibly damaging Het
Gm10384 A G 15: 36,871,996 (GRCm39) noncoding transcript Het
Gm973 T C 1: 59,672,299 (GRCm39) probably benign Het
Ift88 C T 14: 57,668,025 (GRCm39) P9S probably damaging Het
Nav3 T A 10: 109,739,613 (GRCm39) I119F probably damaging Het
Nbeal2 T C 9: 110,462,153 (GRCm39) E1428G possibly damaging Het
Or12e7 C A 2: 87,288,247 (GRCm39) T246K probably damaging Het
Phf13 T C 4: 152,076,820 (GRCm39) D124G possibly damaging Het
Ppp3ca T G 3: 136,503,605 (GRCm39) S59R probably benign Het
Rsu1 A G 2: 13,174,946 (GRCm39) probably benign Het
Rttn T C 18: 89,033,370 (GRCm39) probably benign Het
Ryr1 A T 7: 28,752,515 (GRCm39) V3598E probably damaging Het
Sc5d G T 9: 42,166,866 (GRCm39) N224K probably damaging Het
Tacc2 G A 7: 130,227,226 (GRCm39) E1323K possibly damaging Het
Tbc1d21 T A 9: 58,270,352 (GRCm39) D141V probably damaging Het
Trp53bp2 T C 1: 182,281,347 (GRCm39) F983L probably damaging Het
Ubxn2a T A 12: 4,941,322 (GRCm39) K95* probably null Het
Ugt3a1 G T 15: 9,365,374 (GRCm39) W329L probably damaging Het
Unk T C 11: 115,940,949 (GRCm39) Y237H probably benign Het
Vcam1 A C 3: 115,918,079 (GRCm39) probably null Het
Xpo6 T C 7: 125,703,893 (GRCm39) N1086D probably damaging Het
Zc3h12c A T 9: 52,055,356 (GRCm39) L132Q possibly 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
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'- GGGCAGTTGACATTTCAGCC -3'
(R):5'- TTTGAGACACTGGTCACGG -3'

Sequencing Primer
(F):5'- TGCTTGACAGACACAAGGCTCTAG -3'
(R):5'- CATGCATCTAACCAGCTG -3'
Posted On 2015-02-05