Incidental Mutation 'R1718:Mfsd2b'
ID 191221
Institutional Source Beutler Lab
Gene Symbol Mfsd2b
Ensembl Gene ENSMUSG00000037336
Gene Name MFSD2 lysolipid transporter B, sphingolipid
Synonyms Gm1964, major facilitator superfamily domain containing 2B
MMRRC Submission 039751-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1718 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 4912440-4924359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4919037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 73 (T73I)
Ref Sequence ENSEMBL: ENSMUSP00000117057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045921] [ENSMUST00000085790] [ENSMUST00000137337] [ENSMUST00000147241]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000045921
AA Change: T176I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045315
Gene: ENSMUSG00000037336
AA Change: T176I

DomainStartEndE-ValueType
Pfam:MFS_2 33 472 4.6e-74 PFAM
low complexity region 476 490 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000085790
AA Change: T176I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082945
Gene: ENSMUSG00000037336
AA Change: T176I

DomainStartEndE-ValueType
Pfam:MFS_2 32 346 2.2e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125344
Predicted Effect probably damaging
Transcript: ENSMUST00000137337
AA Change: T73I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117057
Gene: ENSMUSG00000037336
AA Change: T73I

DomainStartEndE-ValueType
Pfam:MFS_2 1 368 1.1e-59 PFAM
low complexity region 373 387 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143446
Predicted Effect probably benign
Transcript: ENSMUST00000147241
SMART Domains Protein: ENSMUSP00000114977
Gene: ENSMUSG00000037336

DomainStartEndE-ValueType
Pfam:MFS_2 33 110 3.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150764
Meta Mutation Damage Score 0.3259 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 100% (69/69)
MGI Phenotype PHENOTYPE: Homozygous KO reduces sphingosine-1-phosphate export from, and increases its accumulation in, red blood cells and platelets, and leads to reduced leukocyte, reticulocyte, and erythrocyte cell numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik G T 13: 77,393,489 (GRCm39) probably benign Het
Acot3 T G 12: 84,100,717 (GRCm39) probably null Het
Acox1 A T 11: 116,065,508 (GRCm39) C523* probably null Het
Adamts19 G A 18: 59,105,897 (GRCm39) C764Y probably damaging Het
Agrn GCTCT GCTCTCT 4: 156,250,976 (GRCm39) probably null Het
Apob A G 12: 8,066,087 (GRCm39) K4319R probably benign Het
AU016765 A C 17: 64,862,433 (GRCm39) noncoding transcript Het
Bpifb1 T A 2: 154,055,903 (GRCm39) probably null Het
Btn2a2 A G 13: 23,666,106 (GRCm39) V242A probably benign Het
Camta1 A G 4: 151,168,481 (GRCm39) S1281P probably benign Het
Ccdc116 T C 16: 16,959,772 (GRCm39) K306E probably benign Het
Cemip A G 7: 83,584,866 (GRCm39) V1350A probably benign Het
Clip2 A T 5: 134,531,783 (GRCm39) L674* probably null Het
Cyp2d12 T A 15: 82,442,251 (GRCm39) D244E probably benign Het
Cyp4x1 A G 4: 114,968,867 (GRCm39) V379A possibly damaging Het
Dnah9 T A 11: 66,058,905 (GRCm39) H130L possibly damaging Het
Enpp7 A G 11: 118,881,809 (GRCm39) Y318C probably damaging Het
Fras1 A T 5: 96,702,748 (GRCm39) probably null Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm28042 T A 2: 119,866,872 (GRCm39) S172T possibly damaging Het
Gm7808 T A 9: 19,839,299 (GRCm39) probably benign Het
Gpr61 C T 3: 108,057,696 (GRCm39) V322M possibly damaging Het
H2-T5 A G 17: 36,472,676 (GRCm39) probably benign Het
Hapln3 A G 7: 78,773,198 (GRCm39) V15A unknown Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Klk1b4 A G 7: 43,859,096 (GRCm39) Y38C probably damaging Het
Lrrfip1 A G 1: 91,043,277 (GRCm39) K561E probably damaging Het
Map3k1 A G 13: 111,891,953 (GRCm39) C1101R probably benign Het
Mcoln2 A G 3: 145,896,229 (GRCm39) probably benign Het
Mfsd4b5 C T 10: 39,851,199 (GRCm39) V19I probably benign Het
Mgme1 T A 2: 144,114,238 (GRCm39) D113E probably benign Het
Mki67 A G 7: 135,297,223 (GRCm39) S2604P probably damaging Het
Mob3c A G 4: 115,688,841 (GRCm39) I125V probably benign Het
Mrps9 G A 1: 42,942,559 (GRCm39) R339H probably damaging Het
Ndst1 T C 18: 60,840,875 (GRCm39) D269G probably damaging Het
Nedd9 T C 13: 41,492,402 (GRCm39) N30S probably damaging Het
Notch4 G A 17: 34,795,737 (GRCm39) probably benign Het
Or5ak25 T C 2: 85,269,149 (GRCm39) M118V probably benign Het
Or5t15 A T 2: 86,681,531 (GRCm39) N170K probably benign Het
Or8b9 G A 9: 37,766,749 (GRCm39) V212I probably benign Het
Or8c10 A G 9: 38,278,890 (GRCm39) D6G probably benign Het
Papss1 C A 3: 131,324,946 (GRCm39) R447S probably damaging Het
Pla2g4a C T 1: 149,747,274 (GRCm39) probably benign Het
Rab11fip2 A G 19: 59,924,081 (GRCm39) F266L probably damaging Het
Ralgapb T A 2: 158,285,200 (GRCm39) Y554* probably null Het
Rem2 T C 14: 54,716,607 (GRCm39) V240A probably damaging Het
Retsat T C 6: 72,579,654 (GRCm39) V143A probably benign Het
Rnf141 G T 7: 110,420,480 (GRCm39) Q175K probably damaging Het
Rtcb C A 10: 85,777,881 (GRCm39) G431V probably damaging Het
Slc7a6os A G 8: 106,930,971 (GRCm39) W222R probably damaging Het
Smarcc2 T C 10: 128,304,867 (GRCm39) probably benign Het
Smchd1 A T 17: 71,755,828 (GRCm39) Y218N possibly damaging Het
Sp110 G A 1: 85,522,106 (GRCm39) H66Y probably benign Het
Speg G A 1: 75,394,507 (GRCm39) E1739K probably benign Het
Speg A G 1: 75,398,388 (GRCm39) Q1945R possibly damaging Het
Sprtn T C 8: 125,625,096 (GRCm39) V67A probably damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tnks1bp1 G T 2: 84,902,082 (GRCm39) E997D probably benign Het
Tti1 A T 2: 157,850,144 (GRCm39) V365E probably benign Het
Tulp4 A G 17: 6,272,715 (GRCm39) I590V probably benign Het
Vmn2r61 A G 7: 41,950,121 (GRCm39) D847G probably benign Het
Zfp184 A G 13: 22,143,442 (GRCm39) T383A possibly damaging Het
Zik1 T A 7: 10,226,268 (GRCm39) E33V probably damaging Het
Zik1 C A 7: 10,226,269 (GRCm39) E33* probably null Het
Other mutations in Mfsd2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01810:Mfsd2b APN 12 4,916,469 (GRCm39) missense possibly damaging 0.63
IGL03188:Mfsd2b APN 12 4,916,538 (GRCm39) splice site probably null
IGL03339:Mfsd2b APN 12 4,924,335 (GRCm39) start codon destroyed probably null
R0142:Mfsd2b UTSW 12 4,916,234 (GRCm39) missense probably benign 0.11
R1468:Mfsd2b UTSW 12 4,920,536 (GRCm39) nonsense probably null
R1468:Mfsd2b UTSW 12 4,920,536 (GRCm39) nonsense probably null
R1535:Mfsd2b UTSW 12 4,920,605 (GRCm39) missense probably damaging 1.00
R1894:Mfsd2b UTSW 12 4,919,155 (GRCm39) missense probably damaging 0.99
R2127:Mfsd2b UTSW 12 4,917,659 (GRCm39) missense probably benign 0.01
R2392:Mfsd2b UTSW 12 4,915,164 (GRCm39) missense possibly damaging 0.73
R3737:Mfsd2b UTSW 12 4,920,578 (GRCm39) missense probably damaging 1.00
R3738:Mfsd2b UTSW 12 4,920,578 (GRCm39) missense probably damaging 1.00
R3739:Mfsd2b UTSW 12 4,920,578 (GRCm39) missense probably damaging 1.00
R3956:Mfsd2b UTSW 12 4,916,848 (GRCm39) missense probably damaging 1.00
R4035:Mfsd2b UTSW 12 4,920,578 (GRCm39) missense probably damaging 1.00
R4244:Mfsd2b UTSW 12 4,924,356 (GRCm39) utr 5 prime probably benign
R4595:Mfsd2b UTSW 12 4,915,807 (GRCm39) missense possibly damaging 0.87
R4667:Mfsd2b UTSW 12 4,917,636 (GRCm39) missense probably benign 0.01
R4723:Mfsd2b UTSW 12 4,918,992 (GRCm39) missense probably benign 0.03
R5126:Mfsd2b UTSW 12 4,916,183 (GRCm39) missense probably benign 0.30
R5145:Mfsd2b UTSW 12 4,915,908 (GRCm39) unclassified probably benign
R5890:Mfsd2b UTSW 12 4,917,651 (GRCm39) missense probably damaging 1.00
R5976:Mfsd2b UTSW 12 4,916,522 (GRCm39) missense probably damaging 1.00
R6753:Mfsd2b UTSW 12 4,917,358 (GRCm39) missense possibly damaging 0.90
R6912:Mfsd2b UTSW 12 4,920,611 (GRCm39) nonsense probably null
R7182:Mfsd2b UTSW 12 4,916,157 (GRCm39) critical splice donor site probably null
R7472:Mfsd2b UTSW 12 4,916,481 (GRCm39) missense probably damaging 1.00
R8429:Mfsd2b UTSW 12 4,916,487 (GRCm39) missense possibly damaging 0.90
R8559:Mfsd2b UTSW 12 4,921,471 (GRCm39) missense possibly damaging 0.63
R8992:Mfsd2b UTSW 12 4,921,490 (GRCm39) missense probably benign
R9410:Mfsd2b UTSW 12 4,915,747 (GRCm39) missense probably damaging 1.00
R9474:Mfsd2b UTSW 12 4,916,820 (GRCm39) missense possibly damaging 0.91
X0062:Mfsd2b UTSW 12 4,915,170 (GRCm39) missense probably benign 0.01
Z1176:Mfsd2b UTSW 12 4,916,530 (GRCm39) critical splice acceptor site probably null
Z1177:Mfsd2b UTSW 12 4,915,794 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTCAGCATCCCCTCTCAAAAGGAAG -3'
(R):5'- AAGCCTGTCGTTACGTCTGCTTATC -3'

Sequencing Primer
(F):5'- TCCCCTCTCAAAAGGAAGAAAAG -3'
(R):5'- TGGGAGAAGCTGTCCTAACC -3'
Posted On 2014-05-14