Incidental Mutation 'PIT4515001:Fut2'
ID 556316
Institutional Source Beutler Lab
Gene Symbol Fut2
Ensembl Gene ENSMUSG00000055978
Gene Name fucosyltransferase 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4515001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 45298015-45315818 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45299890 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 294 (T294I)
Ref Sequence ENSEMBL: ENSMUSP00000063719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069800] [ENSMUST00000210620]
AlphaFold Q9JL27
Predicted Effect probably damaging
Transcript: ENSMUST00000069800
AA Change: T294I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063719
Gene: ENSMUSG00000055978
AA Change: T294I

DomainStartEndE-ValueType
Pfam:Glyco_transf_11 21 338 2.1e-139 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210620
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 91.0%
  • 10x: 86.0%
  • 20x: 75.1%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,383,068 (GRCm39) R966* probably null Het
Adam32 A T 8: 25,404,342 (GRCm39) I221K possibly damaging Het
Adcy6 T C 15: 98,493,027 (GRCm39) T880A probably benign Het
Agpat5 T A 8: 18,896,657 (GRCm39) Y28N probably damaging Het
Atg2a A G 19: 6,303,615 (GRCm39) I1125V probably damaging Het
B4galt6 A G 18: 20,821,524 (GRCm39) Y335H probably benign Het
Bend3 A T 10: 43,386,630 (GRCm39) E341V probably damaging Het
Bltp1 T A 3: 37,028,385 (GRCm39) Y2351N probably damaging Het
Ccdc136 T A 6: 29,417,225 (GRCm39) V682E probably benign Het
Ccdc142 T C 6: 83,080,238 (GRCm39) C394R probably benign Het
Cfap58 A G 19: 48,023,122 (GRCm39) N845D probably benign Het
Col4a3 G A 1: 82,660,024 (GRCm39) G890R unknown Het
Cyp1a2 C A 9: 57,589,242 (GRCm39) V191L probably benign Het
Cyp51 A T 5: 4,149,122 (GRCm39) probably null Het
Diras2 T C 13: 52,661,783 (GRCm39) S175G possibly damaging Het
Dnah6 A G 6: 73,091,565 (GRCm39) F2242S probably damaging Het
Erg T A 16: 95,210,619 (GRCm39) N78Y probably benign Het
Fdft1 T A 14: 63,402,032 (GRCm39) Q49L probably benign Het
Frem1 G T 4: 82,818,663 (GRCm39) H2183Q probably damaging Het
Gabrb1 A C 5: 71,858,160 (GRCm39) D62A probably damaging Het
Gbe1 T A 16: 70,238,004 (GRCm39) Y263* probably null Het
Gimap6 T C 6: 48,679,502 (GRCm39) D178G probably benign Het
Gss T A 2: 155,420,261 (GRCm39) T147S probably damaging Het
Hlcs A T 16: 94,068,275 (GRCm39) V315E probably benign Het
Hoxa3 C T 6: 52,147,164 (GRCm39) G363E unknown Het
Ift140 A G 17: 25,305,834 (GRCm39) N807S probably damaging Het
Iglc1 T G 16: 18,880,701 (GRCm39) D40A Het
Itga10 T A 3: 96,569,948 (GRCm39) I1120N probably damaging Het
Jak3 T C 8: 72,132,286 (GRCm39) V217A probably benign Het
Kank2 T G 9: 21,706,179 (GRCm39) I280L probably benign Het
Kcnk1 G T 8: 126,752,081 (GRCm39) G229V probably damaging Het
Kpna7 T C 5: 144,941,862 (GRCm39) T143A probably benign Het
Letmd1 C T 15: 100,374,683 (GRCm39) R310C probably damaging Het
Mga G A 2: 119,746,985 (GRCm39) V379I probably damaging Het
Mto1 T A 9: 78,364,699 (GRCm39) Y313N probably damaging Het
Muc5ac G A 7: 141,361,153 (GRCm39) C1488Y probably damaging Het
Nde1 T A 16: 13,988,357 (GRCm39) probably null Het
Nfatc3 T C 8: 106,805,835 (GRCm39) S235P possibly damaging Het
Nup88 T C 11: 70,835,547 (GRCm39) D602G probably benign Het
Or11g25 T A 14: 50,723,536 (GRCm39) M207K probably benign Het
Or2h1b A C 17: 37,462,270 (GRCm39) S198A probably benign Het
Pcnx1 G A 12: 82,038,561 (GRCm39) C1309Y Het
Phldb1 A G 9: 44,627,257 (GRCm39) I396T probably benign Het
Pramel38 T C 5: 94,368,831 (GRCm39) M442T probably benign Het
Pramel41 A C 5: 94,594,694 (GRCm39) K185Q probably benign Het
Prss53 G A 7: 127,487,963 (GRCm39) T173I probably benign Het
Ptpn11 C A 5: 121,302,617 (GRCm39) D156Y probably damaging Het
Rfx8 A G 1: 39,729,265 (GRCm39) Y167H probably benign Het
Rpsa T A 9: 119,960,214 (GRCm39) I259N probably benign Het
Rrm2b G T 15: 37,947,048 (GRCm39) D84E probably benign Het
Scgb2b19 A T 7: 32,979,036 (GRCm39) probably null Het
Sik3 T C 9: 46,120,029 (GRCm39) L706P probably damaging Het
Slc4a4 A T 5: 89,281,112 (GRCm39) E426D probably damaging Het
Slc8a2 C A 7: 15,874,504 (GRCm39) L251I possibly damaging Het
Taf6 T C 5: 138,180,504 (GRCm39) K287E probably benign Het
Tiam1 G A 16: 89,657,130 (GRCm39) T702I probably damaging Het
Tle1 A T 4: 72,117,556 (GRCm39) F35I possibly damaging Het
Tle2 A G 10: 81,422,964 (GRCm39) Q454R possibly damaging Het
Tsc2 T C 17: 24,840,121 (GRCm39) N425S probably benign Het
Utp3 A G 5: 88,702,564 (GRCm39) D31G probably benign Het
Vmn1r173 A T 7: 23,401,911 (GRCm39) R49* probably null Het
Ybx2 T A 11: 69,831,224 (GRCm39) V273E probably benign Het
Zbtb22 G A 17: 34,137,672 (GRCm39) A606T probably benign Het
Zcchc8 A T 5: 123,838,995 (GRCm39) D514E probably benign Het
Zfy2 T A Y: 2,117,096 (GRCm39) I244F probably benign Het
Zglp1 T C 9: 20,977,485 (GRCm39) N110S probably benign 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
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
R4590:Fut2 UTSW 7 45,300,370 (GRCm39) missense possibly damaging 0.64
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
(F):5'- ACCAAGTGACTCCTTCTGCC -3'
(R):5'- TTCCGGGCACGCTATTCATC -3'

Sequencing Primer
(F):5'- CTCCTTCTGCCTTGAGATGGAAATG -3'
(R):5'- GGGCACGCTATTCATCTCCAG -3'
Posted On 2019-06-07