Mutagenetix > Incidental Mutation

Incidental Mutation 'R6965:Fut2'

541942

Institutional Source

Beutler Lab

Gene Symbol

Fut2

Ensembl Gene

ENSMUSG00000055978

Gene Name

fucosyltransferase 2

Synonyms

MMRRC Submission

045075-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6965 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45298015-45315818 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45300305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 156 (C156R)

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: C156R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063719
Gene: ENSMUSG00000055978
AA Change: C156R

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_11	21	338	2.1e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210620

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,882,452 (GRCm39)	Q1205*	probably null	Het
Als2	A	G	1: 59,209,716 (GRCm39)	F1422S	possibly damaging	Het
Anapc4	T	C	5: 52,993,093 (GRCm39)	V68A	possibly damaging	Het
Atmin	T	C	8: 117,683,777 (GRCm39)	F479S	probably damaging	Het
Atp7b	T	C	8: 22,518,101 (GRCm39)	T234A	probably benign	Het
Bpifa1	G	A	2: 153,987,581 (GRCm39)	G144S	probably damaging	Het
Brf2	A	T	8: 27,614,586 (GRCm39)	M200K	probably benign	Het
C1ql2	G	A	1: 120,268,944 (GRCm39)	C33Y	probably damaging	Het
Cdk18	A	G	1: 132,045,319 (GRCm39)	V269A	probably damaging	Het
Clcc1	T	C	3: 108,580,625 (GRCm39)	V313A	probably damaging	Het
Cntrl	A	T	2: 35,052,845 (GRCm39)	T1117S	probably benign	Het
Col15a1	G	A	4: 47,247,533 (GRCm39)	E236K	probably damaging	Het
Comp	T	C	8: 70,829,164 (GRCm39)	L278P	probably damaging	Het
Csnk2a1-ps3	C	T	1: 156,352,119 (GRCm39)	R107*	probably null	Het
Dlg5	C	A	14: 24,199,498 (GRCm39)	D1469Y	probably damaging	Het
Efna1	A	T	3: 89,186,782 (GRCm39)	V23D	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epb41l4b	T	C	4: 57,040,915 (GRCm39)	Y516C	probably damaging	Het
Esr2	T	C	12: 76,168,631 (GRCm39)	D526G	probably damaging	Het
Fam184b	T	C	5: 45,712,477 (GRCm39)	T514A	probably benign	Het
Fcmr	A	C	1: 130,803,724 (GRCm39)	E176A	possibly damaging	Het
Fry	T	A	5: 150,339,685 (GRCm39)	N1485K	possibly damaging	Het
Gm5431	T	C	11: 48,786,027 (GRCm39)	Y116C	probably benign	Het
Gm5493	T	A	17: 22,967,047 (GRCm39)	V61E	possibly damaging	Het
Golga4	A	T	9: 118,377,847 (GRCm39)	Q456L	probably damaging	Het
Gpam	T	C	19: 55,063,041 (GRCm39)	Y757C	probably damaging	Het
Iqcg	C	T	16: 32,851,174 (GRCm39)	A266T	probably benign	Het
Lta4h	G	T	10: 93,307,759 (GRCm39)	G331*	probably null	Het
Macf1	C	A	4: 123,302,538 (GRCm39)	V655F	probably benign	Het
Map3k13	T	A	16: 21,740,900 (GRCm39)	D742E	probably benign	Het
Mrgprb2	G	A	7: 48,202,597 (GRCm39)	L43F	probably damaging	Het
N4bp1	T	C	8: 87,571,461 (GRCm39)	R846G	probably damaging	Het
Nbn	T	C	4: 15,970,863 (GRCm39)	I282T	probably benign	Het
Ncor1	C	T	11: 62,244,059 (GRCm39)		probably null	Het
Or4a77	G	T	2: 89,487,009 (GRCm39)	P259T	probably damaging	Het
Or4d10c	A	G	19: 12,066,120 (GRCm39)	F12S	possibly damaging	Het
Or8b12	T	A	9: 37,657,433 (GRCm39)	M1K	probably null	Het
Pclo	A	G	5: 14,731,976 (GRCm39)		probably benign	Het
Pde9a	G	T	17: 31,662,861 (GRCm39)	V97L	probably benign	Het
Ptch1	T	C	13: 63,672,881 (GRCm39)	Y771C	possibly damaging	Het
R3hcc1l	G	A	19: 42,551,284 (GRCm39)	D94N	probably damaging	Het
Rnpep	T	A	1: 135,190,858 (GRCm39)	K602*	probably null	Het
Rph3al	T	C	11: 75,745,276 (GRCm39)	Y156C	probably damaging	Het
Rundc1	A	T	11: 101,324,737 (GRCm39)	Y481F	possibly damaging	Het
Serpinb9f	A	G	13: 33,509,859 (GRCm39)	K17R	possibly damaging	Het
Smpd3	T	C	8: 106,986,513 (GRCm39)	H459R	probably damaging	Het
Spata31	A	C	13: 65,070,648 (GRCm39)	Q932P	possibly damaging	Het
Srgap3	C	T	6: 112,700,090 (GRCm39)	A963T	probably damaging	Het
Syne1	A	T	10: 5,179,120 (GRCm39)	F4451L	possibly damaging	Het
Tbc1d19	T	A	5: 54,014,266 (GRCm39)		probably null	Het
Thap12	T	A	7: 98,364,669 (GRCm39)	V279D	probably damaging	Het
Tmprss6	T	C	15: 78,328,328 (GRCm39)	D544G	probably damaging	Het
Tox2	A	G	2: 163,164,930 (GRCm39)	*523W	probably null	Het
Txnrd1	T	C	10: 82,717,652 (GRCm39)	I212T	probably benign	Het
Unc80	T	C	1: 66,685,725 (GRCm39)	I2283T	probably benign	Het
Vmn1r176	A	G	7: 23,535,099 (GRCm39)	I18T	possibly damaging	Het
Vmn2r101	C	T	17: 19,811,284 (GRCm39)	T456I	probably benign	Het
Vmn2r79	T	A	7: 86,651,100 (GRCm39)	H166Q	probably benign	Het
Zer1	A	G	2: 29,991,059 (GRCm39)	V723A	possibly damaging	Het

Other mutations in Fut2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TTCCACACCTTGGGCATGAC -3'
(R):5'- ACATTGTTTGCACTGGCCAG -3'

Sequencing Primer
(F):5'- TGACATGCACATAGTCCCCTCG -3'
(R):5'- TTTGCACTGGCCAGGATGAAC -3'

Posted On

2018-11-28