Mutagenetix > Incidental Mutation

Incidental Mutation 'R7143:Pofut2'

553557

Institutional Source

Beutler Lab

Gene Symbol

Pofut2

Ensembl Gene

ENSMUSG00000020260

Gene Name

protein O-fucosyltransferase 2

Synonyms

2310011G23Rik, FUT13

MMRRC Submission

045222-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7143 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77095052-77105409 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77095260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 35 (I35N)

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: I35N

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020493
Gene: ENSMUSG00000020260
AA Change: I35N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	C	T	7: 103,708,422 (GRCm39)	C129Y	probably damaging	Het
Agbl4	A	G	4: 111,474,333 (GRCm39)	N374S	probably damaging	Het
Agl	A	G	3: 116,585,670 (GRCm39)	S153P	probably damaging	Het
Akap6	T	G	12: 52,934,147 (GRCm39)	D546E	probably benign	Het
Ankrd17	C	A	5: 90,433,820 (GRCm39)	A650S	possibly damaging	Het
Ankrd53	A	G	6: 83,739,893 (GRCm39)	R16G	possibly damaging	Het
Apba2	T	C	7: 64,394,165 (GRCm39)	L570P	probably damaging	Het
Asap1	A	G	15: 64,063,377 (GRCm39)	F101L	probably damaging	Het
Cadm4	T	A	7: 24,198,992 (GRCm39)	I89N	possibly damaging	Het
Cadps	C	T	14: 12,491,838 (GRCm38)	V771I	probably benign	Het
Cenph	A	G	13: 100,898,285 (GRCm39)	V206A	possibly damaging	Het
Cenpn	A	G	8: 117,663,966 (GRCm39)	T253A	probably benign	Het
Cep120	C	T	18: 53,816,457 (GRCm39)	G939R	probably benign	Het
Cfap57	G	A	4: 118,477,906 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,791,673 (GRCm39)	I166V	probably benign	Het
Cstf3	T	A	2: 104,476,961 (GRCm39)	V144E	probably benign	Het
Cyp21a1	T	A	17: 35,021,300 (GRCm39)	H357L	probably damaging	Het
Cyth3	T	A	5: 143,670,151 (GRCm39)	V12E	unknown	Het
Dgat2	T	C	7: 98,806,331 (GRCm39)	I289V	probably benign	Het
Dip2a	A	G	10: 76,133,625 (GRCm39)	C527R	probably damaging	Het
Dnah17	A	C	11: 117,976,956 (GRCm39)	W1879G	probably damaging	Het
Dnai2	A	G	11: 114,645,076 (GRCm39)	T504A	possibly damaging	Het
Efl1	C	T	7: 82,411,888 (GRCm39)	P759L	probably damaging	Het
Egfr	A	C	11: 16,821,627 (GRCm39)	I351L	probably benign	Het
Ercc6	G	A	14: 32,292,262 (GRCm39)	E1209K	probably damaging	Het
Fam135b	A	T	15: 71,351,000 (GRCm39)	M292K	probably benign	Het
Fbxl7	C	A	15: 26,543,244 (GRCm39)	V468L	probably benign	Het
Fhl2	G	T	1: 43,181,011 (GRCm39)	H60N	probably damaging	Het
G6pc1	G	T	11: 101,261,549 (GRCm39)	R83L	probably damaging	Het
Gata4	C	A	14: 63,442,066 (GRCm39)	R252L	probably damaging	Het
Glt8d1	T	A	14: 30,728,602 (GRCm39)	I10N	probably damaging	Het
Gm10803	T	A	2: 93,394,304 (GRCm39)	Y25*	probably null	Het
Gm19345	T	C	7: 19,591,759 (GRCm39)	F108S	unknown	Het
Gm4952	A	G	19: 12,595,771 (GRCm39)	T54A	possibly damaging	Het
Gprc6a	C	T	10: 51,490,986 (GRCm39)	R921H	probably benign	Het
Hc	A	T	2: 34,940,450 (GRCm39)	H129Q	probably benign	Het
Heatr5a	T	C	12: 52,008,251 (GRCm39)	R31G	probably benign	Het
Hephl1	T	C	9: 14,972,106 (GRCm39)	K945E	possibly damaging	Het
Ik	G	T	18: 36,884,230 (GRCm39)	M237I	probably damaging	Het
Izumo1	T	A	7: 45,276,519 (GRCm39)	S361T	probably benign	Het
Kcnq4	A	G	4: 120,568,436 (GRCm39)	F427L	probably benign	Het
Kifap3	T	A	1: 163,683,609 (GRCm39)	M430K	possibly damaging	Het
Kifap3	A	T	1: 163,653,428 (GRCm39)	N338I	possibly damaging	Het
Lamb3	A	G	1: 192,986,873 (GRCm39)	E53G	probably damaging	Het
Lrp1b	A	T	2: 41,202,655 (GRCm39)	I1266K		Het
Nat8	A	T	6: 85,807,485 (GRCm39)	I216K	probably benign	Het
Ncapd2	T	C	6: 125,156,524 (GRCm39)	I454V	probably benign	Het
Nlrp4f	A	T	13: 65,343,120 (GRCm39)	V153E	probably damaging	Het
Nlrp4f	G	C	13: 65,347,166 (GRCm39)	Q9E	possibly damaging	Het
Npy2r	A	T	3: 82,448,250 (GRCm39)	I175N	probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or1l4b	A	G	2: 37,036,886 (GRCm39)	T221A	probably benign	Het
Or4a74	T	C	2: 89,440,363 (GRCm39)	M28V	probably benign	Het
Or52n3	C	T	7: 104,530,393 (GRCm39)	P160S	probably damaging	Het
Pcdh9	T	C	14: 94,125,708 (GRCm39)	N154S	probably damaging	Het
Pcdhb2	A	T	18: 37,428,934 (GRCm39)	E302D	probably benign	Het
Pclo	T	A	5: 14,908,836 (GRCm39)	V5048E	unknown	Het
Pcnt	A	G	10: 76,224,894 (GRCm39)	L1870S	possibly damaging	Het
Pigc	T	C	1: 161,798,161 (GRCm39)	Y48H	probably damaging	Het
Pisd	C	T	5: 32,895,846 (GRCm39)	V241I	possibly damaging	Het
Pkhd1l1	A	T	15: 44,437,033 (GRCm39)	M3464L	possibly damaging	Het
Prss27	A	G	17: 24,264,632 (GRCm39)	Y265C	probably damaging	Het
Prss56	T	A	1: 87,115,875 (GRCm39)	I583K	probably benign	Het
Rnpep	T	C	1: 135,211,487 (GRCm39)	E87G	probably benign	Het
Shtn1	T	C	19: 59,007,338 (GRCm39)	H304R	probably damaging	Het
Slc23a4	A	T	6: 34,955,848 (GRCm39)	I62N	probably damaging	Het
Slc35e2	A	T	4: 155,703,051 (GRCm39)	I355F	probably benign	Het
Snx25	T	C	8: 46,488,752 (GRCm39)	I868V	possibly damaging	Het
Spatc1l	T	A	10: 76,405,765 (GRCm39)	L323Q	probably damaging	Het
Speer4a2	T	A	5: 26,290,674 (GRCm39)	I166F	probably benign	Het
Taok1	A	G	11: 77,428,814 (GRCm39)	V962A	probably benign	Het
Tas2r140	A	G	6: 133,032,482 (GRCm39)	I92T	probably benign	Het
Trim17	C	A	11: 58,856,010 (GRCm39)	Y22*	probably null	Het
Tti1	T	A	2: 157,849,596 (GRCm39)	M548L	probably benign	Het
Unc93b1	T	C	19: 3,985,204 (GRCm39)	V4A	unknown	Het
Utp3	G	C	5: 88,702,376 (GRCm39)		probably benign	Het
Vmn1r225	A	T	17: 20,722,646 (GRCm39)	Y29F	probably benign	Het
Vmn1r34	A	T	6: 66,614,648 (GRCm39)	I30N	probably benign	Het
Vmn2r67	T	A	7: 84,801,846 (GRCm39)	M152L	probably benign	Het
Wdr20rt	T	G	12: 65,272,692 (GRCm39)	F52V	probably benign	Het
Zfp869	G	T	8: 70,159,306 (GRCm39)	H422Q	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
R7072:Pofut2	UTSW	10	77,095,263 (GRCm39)	missense	probably benign	0.40
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'- ACTCCTACTCAGACGAAGAGAG -3'
(R):5'- TAGCGATCTCTCGGGAGTAGAC -3'

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

Posted On

2019-05-15