Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01759:Ugp2'

153510

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ugp2

Ensembl Gene

ENSMUSG00000001891

Gene Name

UDP-glucose pyrophosphorylase 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01759

Quality Score

Status

Chromosome

Chromosomal Location

21271138-21321201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21303447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 53 (K53E)

Ref Sequence

ENSEMBL: ENSMUSP00000099939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060895] [ENSMUST00000102875]

AlphaFold

Q91ZJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000060895
AA Change: K42E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000056324
Gene: ENSMUSG00000001891
AA Change: K42E

Domain	Start	End	E-Value	Type
low complexity region	14	29	N/A	INTRINSIC
Pfam:UDPGP	43	462	2.1e-197	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102875
AA Change: K53E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000099939
Gene: ENSMUSG00000001891
AA Change: K53E

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
Pfam:UDPGP	55	473	3.5e-201	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic enzyme has no significant sequence similarity to the prokaryotic enzyme. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	T	11: 95,726,625 (GRCm39)	D150E	probably damaging	Het
Akr1c14	T	A	13: 4,131,139 (GRCm39)	I277N	probably damaging	Het
Ap1b1	C	T	11: 4,969,433 (GRCm39)	T263I	probably damaging	Het
Atp6v0d2	C	A	4: 19,878,335 (GRCm39)	V313L	probably damaging	Het
Car2	G	A	3: 14,960,688 (GRCm39)		probably null	Het
Cdh17	T	A	4: 11,771,262 (GRCm39)		probably benign	Het
Cep295	A	G	9: 15,234,855 (GRCm39)		probably null	Het
Cep97	T	C	16: 55,750,936 (GRCm39)	K27E	probably damaging	Het
Cops5	A	T	1: 10,097,474 (GRCm39)	N258K	probably damaging	Het
Dchs1	T	A	7: 105,404,509 (GRCm39)	T2678S	probably benign	Het
Dnah10	T	A	5: 124,832,850 (GRCm39)	F861Y	probably benign	Het
Dock10	T	C	1: 80,503,990 (GRCm39)	E1777G	probably damaging	Het
Dock5	G	A	14: 68,118,708 (GRCm39)	Q23*	probably null	Het
Ermp1	T	C	19: 29,593,236 (GRCm39)	K752R	probably benign	Het
Fhip1a	A	C	3: 85,595,754 (GRCm39)	I377S	probably damaging	Het
Gjd2	T	A	2: 113,841,587 (GRCm39)	I297L	probably benign	Het
Gm1123	T	C	9: 98,905,307 (GRCm39)	M68V	probably benign	Het
Gm28372	C	T	2: 130,248,818 (GRCm39)	R59W	probably damaging	Het
Gm9912	A	C	3: 148,891,074 (GRCm39)	F20V	unknown	Het
Gpat2	T	C	2: 127,272,816 (GRCm39)	F176S	possibly damaging	Het
Gpr150	T	C	13: 76,203,784 (GRCm39)	H387R	possibly damaging	Het
Gpr20	T	A	15: 73,568,269 (GRCm39)	D40V	probably damaging	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Jakmip3	A	T	7: 138,622,633 (GRCm39)	Q331L	probably damaging	Het
Kif5b	A	G	18: 6,225,647 (GRCm39)	V179A	probably damaging	Het
Kif5b	A	T	18: 6,211,019 (GRCm39)		probably benign	Het
Krt14	A	T	11: 100,095,242 (GRCm39)		probably benign	Het
L3mbtl3	A	G	10: 26,207,798 (GRCm39)	F307S	unknown	Het
Laptm4a	T	C	12: 8,984,687 (GRCm39)		probably benign	Het
Marveld3	T	C	8: 110,674,719 (GRCm39)	S366G	possibly damaging	Het
Mga	C	A	2: 119,781,676 (GRCm39)	T2234K	possibly damaging	Het
Mkrn2os	T	C	6: 115,569,292 (GRCm39)	N54S	probably benign	Het
Mras	T	C	9: 99,293,548 (GRCm39)	I31V	probably damaging	Het
Myh1	A	G	11: 67,110,732 (GRCm39)	D1518G	probably damaging	Het
Myoz2	A	T	3: 122,807,430 (GRCm39)	Y127N	possibly damaging	Het
Nhlrc1	C	A	13: 47,167,438 (GRCm39)	W273L	probably benign	Het
Nol9	C	T	4: 152,130,500 (GRCm39)		probably benign	Het
Nrxn2	T	C	19: 6,559,959 (GRCm39)	V1206A	probably damaging	Het
Or2ag1b	T	C	7: 106,288,540 (GRCm39)	T133A	probably benign	Het
Or5k16	A	T	16: 58,736,291 (GRCm39)	F238I	probably damaging	Het
Or6c5	T	A	10: 129,074,941 (GRCm39)	F308I	probably benign	Het
Or6f2	T	C	7: 139,756,447 (GRCm39)	I138T	probably benign	Het
Or8g2b	T	A	9: 39,750,907 (GRCm39)	M59K	probably damaging	Het
Pappa	T	C	4: 65,123,395 (GRCm39)		probably null	Het
Pfkl	A	G	10: 77,836,565 (GRCm39)	S151P	probably damaging	Het
Pgbd5	C	T	8: 125,111,118 (GRCm39)	G191D	probably damaging	Het
Pikfyve	T	C	1: 65,292,512 (GRCm39)	V1276A	probably benign	Het
Pla2g4c	T	A	7: 13,082,241 (GRCm39)	Y486N	probably damaging	Het
Rasal2	C	A	1: 157,003,502 (GRCm39)	V386L	probably benign	Het
S1pr3	G	A	13: 51,573,548 (GRCm39)	R243Q	probably damaging	Het
Slc44a4	A	G	17: 35,140,219 (GRCm39)	D208G	probably benign	Het
Slc6a4	T	C	11: 76,904,114 (GRCm39)	S190P	probably damaging	Het
Snapc5	A	T	9: 64,087,779 (GRCm39)		probably null	Het
Tbc1d14	C	A	5: 36,728,913 (GRCm39)	R151L	probably damaging	Het
Tecpr2	T	A	12: 110,897,826 (GRCm39)		probably benign	Het
Tmem219	G	A	7: 126,496,310 (GRCm39)	P44L	probably damaging	Het
Ube2e1	T	C	14: 18,330,951 (GRCm38)	R51G	probably null	Het
Vmn1r214	T	C	13: 23,218,662 (GRCm39)	I52T	probably benign	Het
Vmn2r124	C	T	17: 18,284,330 (GRCm39)	T457I	probably benign	Het
Vps13b	A	G	15: 35,878,935 (GRCm39)	E2978G	probably damaging	Het
Zfr	A	G	15: 12,159,741 (GRCm39)	D679G	probably damaging	Het
Zhx3	T	C	2: 160,622,634 (GRCm39)	N511S	probably damaging	Het

Other mutations in Ugp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Ugp2	APN	11	21,304,345 (GRCm39)	missense	probably benign
IGL01161:Ugp2	APN	11	21,273,273 (GRCm39)	missense	possibly damaging	0.82
IGL03037:Ugp2	APN	11	21,282,540 (GRCm39)	nonsense	probably null
IGL03092:Ugp2	APN	11	21,279,722 (GRCm39)	splice site	probably benign
bittern	UTSW	11	21,272,051 (GRCm39)	splice site	probably null
PIT4377001:Ugp2	UTSW	11	21,320,203 (GRCm39)	start codon destroyed	probably null	0.33
R1538:Ugp2	UTSW	11	21,283,791 (GRCm39)	missense	possibly damaging	0.88
R1658:Ugp2	UTSW	11	21,283,774 (GRCm39)	missense	probably benign
R1771:Ugp2	UTSW	11	21,279,915 (GRCm39)	missense	probably damaging	1.00
R1874:Ugp2	UTSW	11	21,279,048 (GRCm39)	missense	probably damaging	1.00
R1970:Ugp2	UTSW	11	21,278,942 (GRCm39)	missense	probably damaging	0.99
R2143:Ugp2	UTSW	11	21,278,949 (GRCm39)	missense	probably benign
R2431:Ugp2	UTSW	11	21,279,025 (GRCm39)	missense	probably damaging	1.00
R3888:Ugp2	UTSW	11	21,303,366 (GRCm39)	missense	probably benign	0.01
R4352:Ugp2	UTSW	11	21,279,026 (GRCm39)	missense	probably damaging	0.99
R5018:Ugp2	UTSW	11	21,281,052 (GRCm39)	missense	probably damaging	1.00
R6125:Ugp2	UTSW	11	21,279,815 (GRCm39)	missense	probably damaging	0.97
R6388:Ugp2	UTSW	11	21,272,051 (GRCm39)	splice site	probably null
R6466:Ugp2	UTSW	11	21,278,883 (GRCm39)	missense	probably benign	0.01
R6626:Ugp2	UTSW	11	21,281,028 (GRCm39)	missense	probably damaging	1.00
R7219:Ugp2	UTSW	11	21,273,271 (GRCm39)	missense	probably damaging	1.00
R7822:Ugp2	UTSW	11	21,283,762 (GRCm39)	missense	probably benign

Posted On

2014-02-04