Mutagenetix > Incidental Mutation

Incidental Mutation 'R9462:Fut2'

714935

Institutional Source

Beutler Lab

Gene Symbol

Fut2

Ensembl Gene

ENSMUSG00000055978

Gene Name

fucosyltransferase 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9462 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45298015-45315818 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45300492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 93 (N93K)

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: N93K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063719
Gene: ENSMUSG00000055978
AA Change: N93K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000210620
AA Change: N93K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	G	A	4: 103,092,964 (GRCm39)	T220I	probably benign	Het
Abca8b	T	A	11: 109,844,433 (GRCm39)	H928L		Het
Ahnak	A	T	19: 8,981,299 (GRCm39)	D861V	probably damaging	Het
Ahnak2	C	A	12: 112,750,655 (GRCm39)	R89L		Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Anks6	A	G	4: 47,033,142 (GRCm39)	L573P	unknown	Het
Ano5	T	C	7: 51,235,200 (GRCm39)	V711A	probably benign	Het
Arl2bp	C	A	8: 95,398,755 (GRCm39)	A120D	probably damaging	Het
Asap1	A	G	15: 64,038,328 (GRCm39)	Y223H	probably damaging	Het
Atp7b	A	T	8: 22,490,160 (GRCm39)	M1151K	probably damaging	Het
B4galnt3	A	T	6: 120,271,438 (GRCm39)	L28Q	probably null	Het
Ccdc39	T	C	3: 33,868,519 (GRCm39)	K856E	probably benign	Het
Ccr9	A	G	9: 123,608,600 (GRCm39)	D94G	probably damaging	Het
Cdan1	A	G	2: 120,560,060 (GRCm39)	I368T	possibly damaging	Het
Cdhr17	G	T	5: 17,027,213 (GRCm39)	A379S		Het
Cfap54	T	C	10: 92,737,920 (GRCm39)	Q2326R	unknown	Het
Chrm3	T	C	13: 9,927,437 (GRCm39)	Y533C		Het
Ckap4	C	T	10: 84,363,924 (GRCm39)	E380K	possibly damaging	Het
Cntnap2	T	C	6: 46,211,217 (GRCm39)	F544L	probably damaging	Het
Cwh43	A	G	5: 73,591,695 (GRCm39)	K596R	probably benign	Het
Cyp26c1	A	G	19: 37,681,634 (GRCm39)	E479G	probably damaging	Het
Deup1	A	G	9: 15,493,882 (GRCm39)	V420A	probably benign	Het
Dnah3	A	G	7: 119,551,523 (GRCm39)	V2932A	probably benign	Het
Dthd1	G	A	5: 63,039,626 (GRCm39)	R676H	probably benign	Het
Eef1e1	A	G	13: 38,838,997 (GRCm39)	L120P	probably damaging	Het
Elane	T	C	10: 79,723,883 (GRCm39)	S244P	probably benign	Het
Esp6	A	G	17: 40,876,315 (GRCm39)	E121G	probably benign	Het
Eya1	T	C	1: 14,299,775 (GRCm39)	E326G	probably damaging	Het
Garin5b	A	G	7: 4,761,330 (GRCm39)	S461P		Het
Gm12695	A	G	4: 96,651,075 (GRCm39)	V126A	probably benign	Het
Gucy2g	A	G	19: 55,221,469 (GRCm39)		probably null	Het
Hbs1l	T	C	10: 21,218,304 (GRCm39)	V267A	probably damaging	Het
Hsd17b1	A	T	11: 100,969,806 (GRCm39)	N106I	possibly damaging	Het
Ino80d	G	A	1: 63,097,393 (GRCm39)	L939F	probably damaging	Het
Lilra6	A	G	7: 3,914,994 (GRCm39)	W505R	probably damaging	Het
Map3k14	T	A	11: 103,118,360 (GRCm39)	K609*	probably null	Het
Mark1	T	A	1: 184,651,868 (GRCm39)	K212N	probably damaging	Het
Muc5b	T	A	7: 141,415,216 (GRCm39)	C2721S		Het
Myh4	A	G	11: 67,141,811 (GRCm39)	D890G	possibly damaging	Het
Mylk2	T	G	2: 152,761,373 (GRCm39)	L492R	probably damaging	Het
Myt1	T	A	2: 181,467,729 (GRCm39)	Y1134*	probably null	Het
N4bp2	G	A	5: 65,947,898 (GRCm39)	G176D	probably benign	Het
Ncstn	A	C	1: 171,899,707 (GRCm39)	M325R	probably damaging	Het
Ndor1	C	T	2: 25,144,875 (GRCm39)		probably null	Het
Notch4	G	A	17: 34,806,667 (GRCm39)	R1868H	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or2b2b	A	T	13: 21,859,015 (GRCm39)	V33E	probably benign	Het
Or8s16	T	A	15: 98,211,186 (GRCm39)	N82Y	possibly damaging	Het
Oxct2a	G	T	4: 123,216,441 (GRCm39)	D313E	probably damaging	Het
Pcdha2	T	A	18: 37,073,546 (GRCm39)	H392Q	probably benign	Het
Pcdhb20	T	G	18: 37,639,799 (GRCm39)	L775R	probably benign	Het
Pclo	A	G	5: 14,840,408 (GRCm39)	D1449G		Het
Pcx	A	G	19: 4,651,970 (GRCm39)	T73A	probably benign	Het
Pou6f2	A	G	13: 18,314,189 (GRCm39)	S395P	probably benign	Het
Prss35	C	G	9: 86,638,392 (GRCm39)	I387M		Het
Radil	C	A	5: 142,471,220 (GRCm39)	D1019Y	probably damaging	Het
Rnf40	G	T	7: 127,191,010 (GRCm39)		probably null	Het
Scarb1	A	T	5: 125,417,891 (GRCm39)	L19Q	probably damaging	Het
Scn8a	T	A	15: 100,930,159 (GRCm39)	F1457I		Het
Sdk2	C	T	11: 113,760,744 (GRCm39)	V339I	possibly damaging	Het
Siglec1	A	G	2: 130,916,404 (GRCm39)	L1182P	probably damaging	Het
Slc4a4	G	A	5: 89,194,131 (GRCm39)	V204I	probably damaging	Het
Sp9	T	C	2: 73,104,243 (GRCm39)	S266P	probably benign	Het
Spata21	A	G	4: 140,831,316 (GRCm39)	E421G	probably damaging	Het
Sulf1	C	T	1: 12,929,459 (GRCm39)	P242L	probably damaging	Het
Sval3	G	A	6: 41,945,105 (GRCm39)	G11E	possibly damaging	Het
Tecta	T	A	9: 42,248,576 (GRCm39)	Y1942F	probably damaging	Het
Thbs2	C	T	17: 14,890,243 (GRCm39)	G1121D	probably damaging	Het
Thrap3	G	T	4: 126,070,048 (GRCm39)	S613*	probably null	Het
Ttc34	A	C	4: 154,942,539 (GRCm39)	K59Q	probably damaging	Het
Tut7	A	T	13: 59,929,957 (GRCm39)	L1428H	possibly damaging	Het
Ube4b	A	T	4: 149,444,748 (GRCm39)	L504Q	probably damaging	Het
Uncx	A	T	5: 139,529,771 (GRCm39)	E8V	probably damaging	Het
Vmn1r79	A	T	7: 11,910,261 (GRCm39)	I48F	probably damaging	Het
Vmn2r99	C	A	17: 19,598,388 (GRCm39)	Y137*	probably null	Het
Zfp354b	G	A	11: 50,814,523 (GRCm39)	T134I	probably benign	Het
Zfp618	G	A	4: 63,051,510 (GRCm39)	V764I	possibly damaging	Het
Zfp873	T	G	10: 81,897,131 (GRCm39)	C621G	probably benign	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
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
X0066:Fut2	UTSW	7	45,299,798 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACTCCTTCAGGATCTCTGGG -3'
(R):5'- CTCCAAACCCTGTCAGAGAAGG -3'

Sequencing Primer
(F):5'- GGTATCCCGTGAAACGCAC -3'
(R):5'- GAATTACAGGCGGTTCAAATGTCCTC -3'

Posted On

2022-06-15