Incidental Mutation 'R4590:Fut2'
ID 342743
Institutional Source Beutler Lab
Gene Symbol Fut2
Ensembl Gene ENSMUSG00000055978
Gene Name fucosyltransferase 2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4590 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 45298015-45315818 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45300370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 134 (N134S)
Ref Sequence ENSEMBL: ENSMUSP00000063719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069800] [ENSMUST00000210620]
AlphaFold Q9JL27
Predicted Effect possibly damaging
Transcript: ENSMUST00000069800
AA Change: N134S

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000063719
Gene: ENSMUSG00000055978
AA Change: N134S

Pfam:Glyco_transf_11 21 338 2.1e-139 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211324
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene is one of three genes in mouse which encode a galactoside 2-L-fucosyltransferase. These genes differ in their developmental- and tissue-specific expression. The encoded type II membrane protein is anchored in the Golgi apparatus and controls the final step in the creation of alpha (1,2) fucosylated carbhohydrates by the addition of a terminal fucose in an alpha (1,2) linkage. This enzyme is involved in the synthesis of the Lewis antigen as well as the H-antigen, a precursor of the A and B antigens of the ABH histo-blood group. The biological function of the fucosylated carbhohydrate products is thought to involve cell-adhesion and interactions with microorganisms. Disruption of this gene results in altered glycosylation of gastric mucosa and uterine epithelia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. Females are somewhate more susceptible to infections withCandida albicans. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 T A 18: 36,716,697 (GRCm39) D201E probably damaging Het
Ano10 T A 9: 122,086,231 (GRCm39) Q398L probably benign Het
Ap3d1 A T 10: 80,555,646 (GRCm39) L319* probably null Het
Cacna1e T C 1: 154,312,265 (GRCm39) M1575V possibly damaging Het
Cep192 T A 18: 67,949,862 (GRCm39) Y315* probably null Het
Cndp2 C A 18: 84,687,933 (GRCm39) V353F probably damaging Het
Ctsq T A 13: 61,184,028 (GRCm39) N298I probably benign Het
Dnah6 A T 6: 73,129,695 (GRCm39) C1173S probably damaging Het
Dnah9 T C 11: 65,931,218 (GRCm39) M1993V probably damaging Het
Dnhd1 T C 7: 105,363,237 (GRCm39) V3933A probably damaging Het
Dnpep C A 1: 75,293,045 (GRCm39) V76L probably damaging Het
Dsc3 A C 18: 20,122,752 (GRCm39) C57W probably damaging Het
Dtx3 A G 10: 127,028,564 (GRCm39) S222P probably damaging Het
Eml5 T C 12: 98,803,600 (GRCm39) Y1009C possibly damaging Het
Fam169a A G 13: 97,234,093 (GRCm39) I122V probably benign Het
Fgr T A 4: 132,722,364 (GRCm39) V211E probably damaging Het
Flvcr1 T C 1: 190,744,343 (GRCm39) T402A probably benign Het
Frmd5 C T 2: 121,595,512 (GRCm39) probably null Het
Gm10110 A T 14: 90,134,982 (GRCm39) noncoding transcript Het
Gm7275 A T 16: 47,893,982 (GRCm39) noncoding transcript Het
Gm904 T A 13: 50,799,285 (GRCm39) C81* probably null Het
Herc1 T A 9: 66,344,946 (GRCm39) V1913E probably damaging Het
Hnmt T C 2: 23,909,111 (GRCm39) probably null Het
Ift172 T C 5: 31,411,299 (GRCm39) E1643G probably damaging Het
Inpp4b T A 8: 82,468,040 (GRCm39) M1K probably null Het
Keap1 G T 9: 21,148,905 (GRCm39) A34D probably damaging Het
Krt25 T C 11: 99,208,854 (GRCm39) probably benign Het
Lama2 A G 10: 26,865,410 (GRCm39) V2916A probably benign Het
Ly9 G A 1: 171,421,443 (GRCm39) Q603* probably null Het
Mis18bp1 A C 12: 65,205,280 (GRCm39) N14K possibly damaging Het
Mmrn1 G T 6: 60,937,797 (GRCm39) C265F probably damaging Het
Mrgprb5 C T 7: 47,817,809 (GRCm39) E309K probably benign Het
Nrtn T C 17: 57,058,504 (GRCm39) T166A probably damaging Het
Odr4 A G 1: 150,262,103 (GRCm39) probably null Het
Or8g50 T C 9: 39,648,146 (GRCm39) F12L probably damaging Het
Osbpl7 T A 11: 96,947,098 (GRCm39) S266R probably damaging Het
Pcdhb11 T C 18: 37,555,549 (GRCm39) I293T probably damaging Het
Pes1 A G 11: 3,927,986 (GRCm39) Y546C probably damaging Het
Pth1r A T 9: 110,551,339 (GRCm39) W587R probably benign Het
Rasgrf2 A G 13: 92,174,789 (GRCm39) Y147H probably damaging Het
Rbbp8 T A 18: 11,865,322 (GRCm39) L737* probably null Het
Rcor3 A T 1: 191,810,217 (GRCm39) F153L probably damaging Het
Rev3l G A 10: 39,682,929 (GRCm39) C349Y probably damaging Het
Rnf115 C T 3: 96,695,889 (GRCm39) T225M probably benign Het
Rnf157 A G 11: 116,250,098 (GRCm39) V200A probably damaging Het
Scfd2 T C 5: 74,372,917 (GRCm39) T653A probably benign Het
Sdccag8 T C 1: 176,775,858 (GRCm39) Y590H probably damaging Het
Sema4d T A 13: 51,877,654 (GRCm39) K59N probably benign Het
Serpinb7 C A 1: 107,379,563 (GRCm39) H323Q probably damaging Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Sgk3 T C 1: 9,969,020 (GRCm39) S466P possibly damaging Het
Sgsm2 T C 11: 74,741,958 (GRCm39) M1011V probably damaging Het
Ssc4d G A 5: 135,993,538 (GRCm39) P106L probably benign Het
Taf7 T C 18: 37,775,784 (GRCm39) Q261R possibly damaging Het
Tbc1d2b T C 9: 90,152,553 (GRCm39) K71R possibly damaging Het
Tff3 C T 17: 31,348,508 (GRCm39) V15I probably benign Het
Tgfb3 C A 12: 86,124,589 (GRCm39) V40L possibly damaging Het
Timm10 T A 2: 84,657,992 (GRCm39) D2E possibly damaging Het
Ttc16 T A 2: 32,663,753 (GRCm39) N74I probably damaging Het
Ttll1 G A 15: 83,381,546 (GRCm39) T241I probably damaging Het
Uba6 T A 5: 86,260,603 (GRCm39) D992V probably damaging Het
Vmn1r25 T A 6: 57,955,480 (GRCm39) T270S probably benign Het
Vmn2r106 T C 17: 20,497,728 (GRCm39) I504V probably damaging Het
Vmn2r87 G T 10: 130,315,014 (GRCm39) H191N possibly damaging Het
Vnn1 C A 10: 23,775,303 (GRCm39) F184L possibly damaging Het
Vtn A T 11: 78,393,032 (GRCm39) I466F probably damaging Het
Zfp352 A C 4: 90,112,772 (GRCm39) D304A probably damaging Het
Other mutations in Fut2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02814:Fut2 APN 7 45,300,193 (GRCm39) missense possibly damaging 0.94
IGL02831:Fut2 APN 7 45,300,193 (GRCm39) missense possibly damaging 0.94
IGL02982:Fut2 APN 7 45,300,193 (GRCm39) missense possibly damaging 0.94
IGL03071:Fut2 APN 7 45,300,193 (GRCm39) missense possibly damaging 0.94
IGL03090:Fut2 APN 7 45,300,193 (GRCm39) missense possibly damaging 0.94
IGL03126:Fut2 APN 7 45,300,193 (GRCm39) missense possibly damaging 0.94
IGL03146:Fut2 APN 7 45,300,193 (GRCm39) missense possibly damaging 0.94
IGL03151:Fut2 APN 7 45,300,193 (GRCm39) missense possibly damaging 0.94
IGL03179:Fut2 APN 7 45,300,073 (GRCm39) missense probably benign 0.02
IGL03212:Fut2 APN 7 45,300,193 (GRCm39) missense possibly damaging 0.94
IGL03213:Fut2 APN 7 45,300,193 (GRCm39) missense possibly damaging 0.94
IGL03234:Fut2 APN 7 45,300,193 (GRCm39) missense possibly damaging 0.94
IGL03271:Fut2 APN 7 45,300,193 (GRCm39) missense possibly damaging 0.94
IGL03372:Fut2 APN 7 45,300,193 (GRCm39) missense possibly damaging 0.94
IGL03381:Fut2 APN 7 45,300,193 (GRCm39) missense possibly damaging 0.94
IGL03385:Fut2 APN 7 45,300,193 (GRCm39) missense possibly damaging 0.94
IGL03392:Fut2 APN 7 45,300,193 (GRCm39) missense possibly damaging 0.94
PIT4515001:Fut2 UTSW 7 45,299,890 (GRCm39) missense probably damaging 1.00
R0553:Fut2 UTSW 7 45,300,698 (GRCm39) missense probably damaging 1.00
R1895:Fut2 UTSW 7 45,300,748 (GRCm39) missense probably damaging 1.00
R1946:Fut2 UTSW 7 45,300,748 (GRCm39) missense probably damaging 1.00
R2347:Fut2 UTSW 7 45,299,752 (GRCm39) missense probably damaging 0.99
R3155:Fut2 UTSW 7 45,300,091 (GRCm39) missense probably damaging 1.00
R3156:Fut2 UTSW 7 45,300,091 (GRCm39) missense probably damaging 1.00
R6311:Fut2 UTSW 7 45,299,804 (GRCm39) missense possibly damaging 0.46
R6810:Fut2 UTSW 7 45,299,929 (GRCm39) missense probably damaging 1.00
R6965:Fut2 UTSW 7 45,300,305 (GRCm39) missense probably damaging 1.00
R8135:Fut2 UTSW 7 45,300,566 (GRCm39) missense probably damaging 1.00
R9087:Fut2 UTSW 7 45,300,493 (GRCm39) missense probably damaging 1.00
R9097:Fut2 UTSW 7 45,300,375 (GRCm39) missense probably benign 0.01
R9462:Fut2 UTSW 7 45,300,492 (GRCm39) missense probably damaging 1.00
X0066:Fut2 UTSW 7 45,299,798 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-09-24