Mutagenetix > Incidental Mutation

Incidental Mutation 'R7219:Ugp2'

561675

Institutional Source

Beutler Lab

Gene Symbol

Ugp2

Ensembl Gene

ENSMUSG00000001891

Gene Name

UDP-glucose pyrophosphorylase 2

Synonyms

MMRRC Submission

045291-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7219 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21271138-21321201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21273271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 449 (I449M)

Ref Sequence

ENSEMBL: ENSMUSP00000099939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006221] [ENSMUST00000060895] [ENSMUST00000102875] [ENSMUST00000109578] [ENSMUST00000132017]

AlphaFold

Q91ZJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000006221

SMART Domains

Protein: ENSMUSP00000006221
Gene: ENSMUSG00000020128

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
Pfam:DUF2450	198	364	2.1e-12	PFAM
Pfam:Vps54	736	868	3.3e-56	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000060895
AA Change: I438M

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

SMART Domains

Protein: ENSMUSP00000056324
Gene: ENSMUSG00000001891
AA Change: I438M

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 damaging
Transcript: ENSMUST00000102875
AA Change: I449M

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

SMART Domains

Protein: ENSMUSP00000099939
Gene: ENSMUSG00000001891
AA Change: I449M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109578

SMART Domains

Protein: ENSMUSP00000105206
Gene: ENSMUSG00000020128

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
Pfam:DUF2450	186	352	2.3e-12	PFAM
Pfam:Vps54	723	857	1.6e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132017

SMART Domains

Protein: ENSMUSP00000116739
Gene: ENSMUSG00000020128

Domain	Start	End	E-Value	Type
Pfam:DUF2450	72	238	1.4e-12	PFAM
Pfam:Vps54	573	707	7.8e-64	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (77/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,508 (GRCm39)	S300P	unknown	Het
Abhd17a	T	A	10: 80,420,008 (GRCm39)	K226*	probably null	Het
Alkbh7	T	A	17: 57,305,508 (GRCm39)	H108Q	probably damaging	Het
Ankrd44	A	C	1: 54,806,069 (GRCm39)	H112Q	probably damaging	Het
Capn3	A	G	2: 120,333,935 (GRCm39)	E790G	probably damaging	Het
Cd47	C	A	16: 49,728,440 (GRCm39)	N330K	possibly damaging	Het
Cd55	A	G	1: 130,390,343 (GRCm39)	S22P	possibly damaging	Het
Cdc25a	A	G	9: 109,718,154 (GRCm39)	I373V	probably damaging	Het
Cfap43	T	C	19: 47,779,912 (GRCm39)	I514V	probably benign	Het
Cfap73	A	T	5: 120,768,200 (GRCm39)	M186K	probably benign	Het
Chd9	A	G	8: 91,728,394 (GRCm39)	D1270G	unknown	Het
Ciita	A	G	16: 10,330,121 (GRCm39)	T802A	probably benign	Het
Dlgap2	A	G	8: 14,793,296 (GRCm39)	E430G	probably benign	Het
Dlx1	C	A	2: 71,360,513 (GRCm39)	S59*	probably null	Het
Dnaaf3	T	C	7: 4,531,076 (GRCm39)	N119S	probably damaging	Het
Dnah11	T	G	12: 118,004,830 (GRCm39)	I2164L	possibly damaging	Het
Dnah11	T	C	12: 118,090,624 (GRCm39)	K1079R	probably benign	Het
Dnah12	C	T	14: 26,576,837 (GRCm39)	T3029I	probably damaging	Het
Dppa3	A	T	6: 122,606,918 (GRCm39)	Y136F	probably damaging	Het
Enox1	T	A	14: 77,958,284 (GRCm39)	M611K	probably benign	Het
Fam149a	A	T	8: 45,803,600 (GRCm39)	I378N	possibly damaging	Het
Farp2	T	C	1: 93,488,040 (GRCm39)	F89S	probably damaging	Het
Fbn2	C	T	18: 58,186,099 (GRCm39)	V1750M	probably benign	Het
Frs3	A	G	17: 48,013,620 (GRCm39)	T181A	probably damaging	Het
Heatr4	T	A	12: 84,004,644 (GRCm39)	I726F	possibly damaging	Het
Ighg1	T	G	12: 113,290,216 (GRCm39)	E375A		Het
Ikzf4	G	T	10: 128,470,252 (GRCm39)	Q476K	possibly damaging	Het
Kcnh1	G	T	1: 192,187,945 (GRCm39)	C829F	probably benign	Het
Krtap19-4	T	C	16: 88,681,797 (GRCm39)	Y53C	unknown	Het
Loricrin	C	A	3: 91,988,705 (GRCm39)	G194C	unknown	Het
Lrp1	A	C	10: 127,393,097 (GRCm39)	D2720E	probably benign	Het
Lrp4	A	G	2: 91,322,368 (GRCm39)	Y1068C	probably damaging	Het
Mbnl1	A	G	3: 60,511,244 (GRCm39)	N67D	probably benign	Het
Mrpl21	A	G	19: 3,336,998 (GRCm39)	E123G	probably benign	Het
Mst1	A	T	9: 107,958,485 (GRCm39)	D65V	probably damaging	Het
Myo15b	T	A	11: 115,767,921 (GRCm39)		probably null	Het
Myo5a	A	G	9: 75,028,052 (GRCm39)	Y79C	probably damaging	Het
Oas1c	A	T	5: 120,940,957 (GRCm39)	W279R	probably damaging	Het
Or4f4-ps1	A	T	2: 111,330,532 (GRCm39)	M312L	probably benign	Het
Or4k77	A	T	2: 111,199,882 (GRCm39)	I302L	probably benign	Het
Or51f5	A	G	7: 102,430,913 (GRCm39)	I77V	probably benign	Het
Pcdh9	C	T	14: 93,253,216 (GRCm39)	G1149D	possibly damaging	Het
Pcid2	G	A	8: 13,129,907 (GRCm39)	T283I	probably benign	Het
Pdhx	A	G	2: 102,858,760 (GRCm39)	V348A	probably benign	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Psmb3	T	A	11: 97,602,023 (GRCm39)	M131K	probably null	Het
Raph1	A	G	1: 60,542,032 (GRCm39)	Y309H	unknown	Het
Rasgrf1	A	G	9: 89,866,341 (GRCm39)	N593S	probably damaging	Het
Rbm38	A	C	2: 172,863,990 (GRCm39)	E53A	possibly damaging	Het
Rufy3	A	G	5: 88,797,715 (GRCm39)	T631A	probably benign	Het
Sbno1	A	T	5: 124,543,722 (GRCm39)	D272E	probably benign	Het
Scamp1	T	A	13: 94,361,415 (GRCm39)	Y207F	probably damaging	Het
Scn8a	T	A	15: 100,866,984 (GRCm39)	S263R	probably damaging	Het
Setbp1	T	G	18: 78,798,960 (GRCm39)	T1407P	probably damaging	Het
Skor2	T	C	18: 76,948,096 (GRCm39)	L606P	possibly damaging	Het
Slc35f6	A	G	5: 30,814,796 (GRCm39)	N241S	probably benign	Het
Slc36a2	T	G	11: 55,059,744 (GRCm39)	D247A	probably benign	Het
Smim10l1	T	A	6: 133,084,895 (GRCm39)	F87L	unknown	Het
Son	T	C	16: 91,461,889 (GRCm39)	S2265P	unknown	Het
Spta1	A	G	1: 174,050,203 (GRCm39)	N1748D	probably damaging	Het
Sptbn2	A	G	19: 4,774,201 (GRCm39)	D84G	probably damaging	Het
Tasor2	T	A	13: 3,640,521 (GRCm39)	L205F	probably damaging	Het
Tbc1d24	G	A	17: 24,404,266 (GRCm39)	R293C	probably damaging	Het
Tex15	A	G	8: 34,036,268 (GRCm39)	T65A	probably benign	Het
Thyn1	A	G	9: 26,916,506 (GRCm39)	Y97C	probably damaging	Het
Tmem64	T	C	4: 15,266,700 (GRCm39)	L250P	probably damaging	Het
Tnfrsf9	A	T	4: 151,019,991 (GRCm39)	K217N	probably damaging	Het
Tnxb	A	G	17: 34,898,039 (GRCm39)	T896A	probably benign	Het
Trpm1	T	A	7: 63,854,333 (GRCm39)	I285N	possibly damaging	Het
Try5	T	A	6: 41,288,637 (GRCm39)	D194V	probably damaging	Het
U2surp	G	A	9: 95,372,215 (GRCm39)	R316*	probably null	Het
Ubr2	G	T	17: 47,246,360 (GRCm39)	S1618*	probably null	Het
Umodl1	A	G	17: 31,201,236 (GRCm39)		probably null	Het
Vmn2r31	C	T	7: 7,390,105 (GRCm39)	V538I	probably benign	Het
Vmn2r31	A	T	7: 7,397,397 (GRCm39)	M287K	probably damaging	Het
Wwc2	A	G	8: 48,311,919 (GRCm39)	V748A	unknown	Het
Zfp800	A	C	6: 28,243,662 (GRCm39)	H434Q	probably benign	Het
Zfp869	A	G	8: 70,159,356 (GRCm39)	C406R	probably damaging	Het
Zhx1	A	G	15: 57,917,733 (GRCm39)	V171A	probably benign	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
IGL01759:Ugp2	APN	11	21,303,447 (GRCm39)	missense	probably benign	0.01
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
R7822:Ugp2	UTSW	11	21,283,762 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAAATACTTACCGTACAGATGACCCG -3'
(R):5'- TCAGAAGCAAAGCAGCCATG -3'

Sequencing Primer
(F):5'- AGATGACCCGATAATCTGTTCAC -3'
(R):5'- CAGCCATGAGGTTGGTATGC -3'

Posted On

2019-06-26