Mutagenetix > Incidental Mutation

Incidental Mutation 'R7072:Pofut2'

548975

Institutional Source

Beutler Lab

Gene Symbol

Pofut2

Ensembl Gene

ENSMUSG00000020260

Gene Name

protein O-fucosyltransferase 2

Synonyms

2310011G23Rik, FUT13

MMRRC Submission

045168-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7072 (G1)

Quality Score

222.009

Status

Validated

Chromosome

Chromosomal Location

77095052-77105409 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77095263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 36 (L36P)

Ref Sequence

ENSEMBL: ENSMUSP00000020493 (fasta)

Gene Model

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

AlphaFold

Q8VHI3

Predicted Effect

probably benign
Transcript: ENSMUST00000020493
AA Change: L36P

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000020493
Gene: ENSMUSG00000020260
AA Change: L36P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218064

Predicted Effect

probably benign
Transcript: ENSMUST00000219376

Meta Mutation Damage Score

0.1202

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,967,592 (GRCm39)	L2214Q	probably damaging	Het
Acbd3	T	C	1: 180,553,934 (GRCm39)	F90L	probably benign	Het
Ahnak2	T	A	12: 112,751,786 (GRCm39)	Q23L		Het
Anpep	A	T	7: 79,485,127 (GRCm39)	L620I	possibly damaging	Het
Bpi	T	C	2: 158,113,998 (GRCm39)	S299P	probably damaging	Het
Bpifa2	A	G	2: 153,853,293 (GRCm39)	D132G	probably damaging	Het
Brd7	T	A	8: 89,073,615 (GRCm39)	E258D	probably benign	Het
Btc	T	C	5: 91,550,796 (GRCm39)		probably benign	Het
Cacna1c	A	G	6: 118,573,067 (GRCm39)	V2039A		Het
Calm4	T	A	13: 3,888,275 (GRCm39)	V127E	probably benign	Het
Casp8ap2	T	A	4: 32,644,766 (GRCm39)	S1280T	probably damaging	Het
Cc2d2b	T	C	19: 40,748,803 (GRCm39)	V80A	unknown	Het
Ccdc33	A	G	9: 58,019,267 (GRCm39)	*279R	probably null	Het
Cercam	T	A	2: 29,771,936 (GRCm39)	H585Q	probably benign	Het
Cnnm1	A	G	19: 43,429,296 (GRCm39)	D138G	probably benign	Het
Cox4i2	T	C	2: 152,602,573 (GRCm39)	F89S	probably damaging	Het
Crb1	G	A	1: 139,165,013 (GRCm39)	T1098I	probably damaging	Het
Csnk1e	C	T	15: 79,322,967 (GRCm39)		probably null	Het
Ctsj	C	A	13: 61,150,897 (GRCm39)	E187*	probably null	Het
Dagla	A	T	19: 10,233,659 (GRCm39)		probably null	Het
Dnah7a	G	A	1: 53,458,912 (GRCm39)	T3742I	probably benign	Het
Dnajc6	A	C	4: 101,472,812 (GRCm39)	H381P	probably damaging	Het
Dyrk3	A	T	1: 131,057,465 (GRCm39)	L236Q	probably damaging	Het
Edc4	T	A	8: 106,614,634 (GRCm39)	D105E	probably damaging	Het
Frmd5	A	T	2: 121,388,351 (GRCm39)	L241Q	probably damaging	Het
Gcc2	A	G	10: 58,106,749 (GRCm39)	T662A	probably benign	Het
Gins1	C	T	2: 150,751,671 (GRCm39)		probably null	Het
Gli3	T	A	13: 15,900,280 (GRCm39)	N1222K	possibly damaging	Het
Gm4302	G	T	10: 100,177,521 (GRCm39)	Q268H	unknown	Het
Grin2d	A	T	7: 45,506,922 (GRCm39)	W518R	probably damaging	Het
Grm5	A	T	7: 87,723,512 (GRCm39)	I601F	probably damaging	Het
Gtpbp10	A	T	5: 5,596,365 (GRCm39)	N193K	probably benign	Het
Igdcc4	T	G	9: 65,038,013 (GRCm39)	V798G	probably damaging	Het
Igkv8-19	A	T	6: 70,318,396 (GRCm39)	F13I	probably benign	Het
Kctd11	T	A	11: 69,770,621 (GRCm39)	N139I	probably benign	Het
Lmo7	G	A	14: 102,136,136 (GRCm39)		probably null	Het
Lrrk2	A	T	15: 91,686,123 (GRCm39)	M2155L	probably benign	Het
Ly6g6g	C	T	15: 74,644,119 (GRCm39)	V66M		Het
Mettl24	A	C	10: 40,559,509 (GRCm39)	H53P	probably benign	Het
Mier2	A	G	10: 79,376,133 (GRCm39)	M264T	unknown	Het
Mplkip	T	C	13: 17,870,122 (GRCm39)	I18T	unknown	Het
Mtmr2	T	C	9: 13,699,916 (GRCm39)	V101A	probably benign	Het
Nbeal2	G	T	9: 110,455,119 (GRCm39)	T2593K	probably benign	Het
Neu3	A	T	7: 99,463,404 (GRCm39)	C106*	probably null	Het
Nutm1	T	C	2: 112,082,192 (GRCm39)	T295A	probably benign	Het
Or2h2b-ps1	A	G	17: 37,481,269 (GRCm39)	I90T	probably benign	Het
Pcdhga7	G	T	18: 37,850,329 (GRCm39)	V779L	probably benign	Het
Pde10a	A	G	17: 9,161,858 (GRCm39)	E231G	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plcg2	T	A	8: 118,316,574 (GRCm39)		probably null	Het
Pou6f2	T	C	13: 18,299,754 (GRCm39)	N635S		Het
Pramel14	A	C	4: 143,720,698 (GRCm39)	I81R	probably damaging	Het
Ptpra	T	C	2: 130,395,350 (GRCm39)	Y818H	probably damaging	Het
Rad18	T	C	6: 112,658,401 (GRCm39)	E168G	probably benign	Het
Rev1	C	A	1: 38,106,626 (GRCm39)	E634*	probably null	Het
Sec24d	A	G	3: 123,124,000 (GRCm39)	D403G	probably damaging	Het
Sema5a	C	A	15: 32,575,105 (GRCm39)	H404Q	possibly damaging	Het
Shank1	A	G	7: 43,994,370 (GRCm39)	S844G	unknown	Het
Slc32a1	T	A	2: 158,453,416 (GRCm39)	Y85*	probably null	Het
Slc39a4	T	C	15: 76,497,458 (GRCm39)	T485A	probably damaging	Het
Sp5	A	C	2: 70,307,074 (GRCm39)	Q253P	probably benign	Het
Sspo	A	T	6: 48,431,913 (GRCm39)	D709V	probably damaging	Het
Sucnr1	A	G	3: 59,993,604 (GRCm39)	Y44C	probably damaging	Het
Taar8b	A	G	10: 23,967,876 (GRCm39)	L106P	possibly damaging	Het
Tbc1d9	A	G	8: 83,991,494 (GRCm39)	D922G	probably damaging	Het
Tbx6	A	T	7: 126,383,912 (GRCm39)	D322V	probably benign	Het
Tex15	T	A	8: 34,065,459 (GRCm39)	S1630T	possibly damaging	Het
Ube2o	G	A	11: 116,432,327 (GRCm39)	P880S	probably benign	Het
Uck1	C	T	2: 32,148,178 (GRCm39)	R182Q	probably damaging	Het
Utrn	T	A	10: 12,340,957 (GRCm39)	H2840L	probably damaging	Het
Vps8	A	G	16: 21,400,329 (GRCm39)	T1266A	probably benign	Het
Wnk1	A	T	6: 119,914,822 (GRCm39)	I1909N	unknown	Het
Zfp352	C	T	4: 90,112,661 (GRCm39)	T267I	probably benign	Het
Zfp773	A	T	7: 7,135,874 (GRCm39)	C241S	probably benign	Het
Zfp934	T	C	13: 62,668,339 (GRCm39)	D8G	probably damaging	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
R1436:Pofut2	UTSW	10	77,104,398 (GRCm39)	missense	probably damaging	1.00
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
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'- TACTCCTACTCAGACGAAGAGAG -3'
(R):5'- TAGCGATCTCTCGGGAGTAG -3'

Sequencing Primer
(F):5'- TTGCCGTAGCTACTGGAGAC -3'
(R):5'- ATCTCTCGGGAGTAGACGGC -3'

Posted On

2019-05-15