Mutagenetix > Incidental Mutation

Incidental Mutation 'R1436:Pofut2'

160653

Institutional Source

Beutler Lab

Gene Symbol

Pofut2

Ensembl Gene

ENSMUSG00000020260

Gene Name

protein O-fucosyltransferase 2

Synonyms

2310011G23Rik, FUT13

MMRRC Submission

039491-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1436 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77095052-77105409 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77104398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 392 (R392W)

Ref Sequence

ENSEMBL: ENSMUSP00000020493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020493] [ENSMUST00000219376]

AlphaFold

Q8VHI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000020493
AA Change: R392W

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

SMART Domains

Protein: ENSMUSP00000020493
Gene: ENSMUSG00000020260
AA Change: R392W

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:O-FucT	46	411	6.6e-88	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217993

Predicted Effect

probably benign
Transcript: ENSMUST00000218064

Predicted Effect

probably benign
Transcript: ENSMUST00000218117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218672

Predicted Effect

probably benign
Transcript: ENSMUST00000219376

Meta Mutation Damage Score

0.8275

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 86.8%

Validation Efficiency

94% (65/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. [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
A2m	T	C	6: 121,621,172 (GRCm39)	F292S	probably benign	Het
Aadacl2fm3	A	T	3: 59,772,760 (GRCm39)	D88V	probably damaging	Het
Abca13	T	C	11: 9,242,646 (GRCm39)	V1503A	probably damaging	Het
AI661453	C	T	17: 47,777,627 (GRCm39)		probably benign	Het
Ano2	T	C	6: 125,844,134 (GRCm39)		probably null	Het
Areg	G	T	5: 91,287,664 (GRCm39)		probably benign	Het
Atg16l2	A	G	7: 100,940,757 (GRCm39)	V453A	probably damaging	Het
BC034090	A	G	1: 155,101,662 (GRCm39)	S563P	probably benign	Het
Bhmt-ps1	A	G	4: 26,369,591 (GRCm39)		noncoding transcript	Het
Birc6	C	A	17: 74,959,700 (GRCm39)	P3855Q	probably damaging	Het
Cd151	A	T	7: 141,049,197 (GRCm39)	K8M	probably damaging	Het
Cd163	T	C	6: 124,304,890 (GRCm39)	V1089A	possibly damaging	Het
Chd3	A	T	11: 69,248,400 (GRCm39)		probably null	Het
Cnot6l	T	A	5: 96,281,971 (GRCm39)	E9V	probably damaging	Het
Col22a1	A	G	15: 71,794,806 (GRCm39)		probably benign	Het
Cyp2c68	A	G	19: 39,729,484 (GRCm39)	M1T	probably null	Het
Dbp	T	C	7: 45,357,879 (GRCm39)	V149A	probably damaging	Het
Dnah10	T	C	5: 124,839,285 (GRCm39)	V1241A	probably benign	Het
Galnt10	T	C	11: 57,662,295 (GRCm39)	S314P	probably damaging	Het
Glce	C	T	9: 61,977,292 (GRCm39)		probably null	Het
Gm5093	C	G	17: 46,750,680 (GRCm39)	D116H	probably damaging	Het
Golim4	A	G	3: 75,785,951 (GRCm39)		probably null	Het
Helz2	A	T	2: 180,877,317 (GRCm39)	I1107N	probably damaging	Het
Hoxc9	T	C	15: 102,890,304 (GRCm39)	S74P	probably benign	Het
Ikbkb	T	A	8: 23,163,419 (GRCm39)	N297I	probably benign	Het
Il20ra	T	A	10: 19,625,000 (GRCm39)	I93N	probably damaging	Het
Itch	C	A	2: 155,034,065 (GRCm39)	N412K	probably damaging	Het
Kcna5	T	A	6: 126,511,724 (GRCm39)	T135S	probably damaging	Het
Lncpint	G	A	6: 31,157,974 (GRCm39)		noncoding transcript	Het
Lrrc39	A	T	3: 116,373,293 (GRCm39)		probably null	Het
Mad2l1	T	A	6: 66,516,797 (GRCm39)	V163E	possibly damaging	Het
Moxd1	C	T	10: 24,120,256 (GRCm39)	T128M	probably damaging	Het
Mpeg1	C	T	19: 12,439,823 (GRCm39)	S427F	probably damaging	Het
Nckap5	T	C	1: 125,953,798 (GRCm39)	Y854C	possibly damaging	Het
Ncln	C	T	10: 81,325,727 (GRCm39)	E373K	probably damaging	Het
Neurod4	T	C	10: 130,106,540 (GRCm39)	T245A	possibly damaging	Het
Nsun5	T	C	5: 135,399,067 (GRCm39)	L39P	probably damaging	Het
Or2ad1	G	T	13: 21,327,162 (GRCm39)	Q22K	probably benign	Het
Or4c105	A	T	2: 88,648,336 (GRCm39)	T274S	possibly damaging	Het
Or4f7	A	G	2: 111,644,906 (GRCm39)	L55S	probably damaging	Het
Pde8b	T	C	13: 95,162,678 (GRCm39)	T815A	probably benign	Het
Ppip5k2	G	A	1: 97,639,507 (GRCm39)	T1186I	probably benign	Het
Rhot2	A	C	17: 26,060,374 (GRCm39)	S277R	probably benign	Het
Satb1	T	G	17: 52,111,391 (GRCm39)		probably null	Het
Sec31b	T	C	19: 44,524,634 (GRCm39)	I88V	probably damaging	Het
Selenon	T	A	4: 134,267,997 (GRCm39)	E483V	probably damaging	Het
Serpinc1	A	G	1: 160,820,981 (GRCm39)	T22A	possibly damaging	Het
Sf3a2	G	A	10: 80,640,040 (GRCm39)		probably benign	Het
Sf3b1	A	G	1: 55,040,580 (GRCm39)	Y561H	possibly damaging	Het
Smarcc1	T	A	9: 109,947,708 (GRCm39)		probably benign	Het
Stard3nl	C	T	13: 19,556,819 (GRCm39)	R107Q	probably damaging	Het
Syce1	C	T	7: 140,357,593 (GRCm39)	R324H	possibly damaging	Het
Tnk1	G	T	11: 69,743,119 (GRCm39)		probably benign	Het
Trim46	A	G	3: 89,150,968 (GRCm39)	F198L	probably damaging	Het
Trip4	A	T	9: 65,788,233 (GRCm39)	W71R	probably damaging	Het
Ubox5	A	C	2: 130,439,213 (GRCm39)		probably benign	Het
Ust	G	A	10: 8,183,202 (GRCm39)	T167M	probably damaging	Het
Zbtb2	T	C	10: 4,318,697 (GRCm39)	Q443R	probably benign	Het
Zfp407	A	G	18: 84,361,196 (GRCm39)		probably benign	Het

Other mutations in Pofut2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01680:Pofut2	APN	10	77,099,127 (GRCm39)	missense	probably damaging	1.00
IGL01892:Pofut2	APN	10	77,101,717 (GRCm39)	missense	probably benign	0.35
IGL01995:Pofut2	APN	10	77,096,515 (GRCm39)	missense	possibly damaging	0.93
IGL03123:Pofut2	APN	10	77,102,844 (GRCm39)	missense	probably benign	0.00
R1928:Pofut2	UTSW	10	77,096,642 (GRCm39)	nonsense	probably null
R2046:Pofut2	UTSW	10	77,096,428 (GRCm39)	missense	probably damaging	1.00
R2184:Pofut2	UTSW	10	77,103,059 (GRCm39)	missense	probably damaging	1.00
R3806:Pofut2	UTSW	10	77,096,640 (GRCm39)	missense	probably damaging	1.00
R4153:Pofut2	UTSW	10	77,104,500 (GRCm39)	missense	probably benign	0.00
R5122:Pofut2	UTSW	10	77,104,399 (GRCm39)	missense	probably damaging	1.00
R6189:Pofut2	UTSW	10	77,104,420 (GRCm39)	missense	probably damaging	1.00
R7072:Pofut2	UTSW	10	77,095,263 (GRCm39)	missense	probably benign	0.40
R7143:Pofut2	UTSW	10	77,095,260 (GRCm39)	missense	probably benign	0.16
R7423:Pofut2	UTSW	10	77,098,273 (GRCm39)	missense	possibly damaging	0.89
R7747:Pofut2	UTSW	10	77,098,304 (GRCm39)	missense	possibly damaging	0.94
R8389:Pofut2	UTSW	10	77,101,785 (GRCm39)	missense	probably benign	0.04
R9345:Pofut2	UTSW	10	77,103,090 (GRCm39)	missense	probably damaging	1.00
R9484:Pofut2	UTSW	10	77,095,260 (GRCm39)	missense	probably benign	0.00
R9601:Pofut2	UTSW	10	77,095,220 (GRCm39)	missense	possibly damaging	0.48
R9612:Pofut2	UTSW	10	77,101,763 (GRCm39)	missense	probably benign
R9722:Pofut2	UTSW	10	77,102,759 (GRCm39)	missense	possibly damaging	0.95
X0004:Pofut2	UTSW	10	77,100,858 (GRCm39)	critical splice donor site	probably null
Z1177:Pofut2	UTSW	10	77,099,100 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTAGTTGAACAGCCAGGTGAAGG -3'
(R):5'- GTTGTGAATCCTGAAGGTGGCAGAG -3'

Sequencing Primer
(F):5'- TGAAGGTCTGCAAGGCAC -3'
(R):5'- CCTAGACACAGGTAGATGTCG -3'

Posted On

2014-03-14