Incidental Mutation 'R3888:Ugp2'
ID 312872
Institutional Source Beutler Lab
Gene Symbol Ugp2
Ensembl Gene ENSMUSG00000001891
Gene Name UDP-glucose pyrophosphorylase 2
Synonyms
MMRRC Submission 040800-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3888 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 21271138-21321201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21303366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 80 (R80G)
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: R69G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000056324
Gene: ENSMUSG00000001891
AA Change: R69G

DomainStartEndE-ValueType
low complexity region 14 29 N/A INTRINSIC
Pfam:UDPGP 43 462 2.1e-197 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102875
AA Change: R80G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000099939
Gene: ENSMUSG00000001891
AA Change: R80G

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
Pfam:UDPGP 55 473 3.5e-201 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T A 1: 85,868,273 (GRCm39) probably null Het
Acbd6 A G 1: 155,500,643 (GRCm39) D201G probably damaging Het
Adam17 G A 12: 21,375,588 (GRCm39) R744C probably damaging Het
Adss2 A G 1: 177,595,335 (GRCm39) Y402H probably damaging Het
Ano3 T A 2: 110,715,345 (GRCm39) K31I probably damaging Het
B930094E09Rik G A 18: 31,742,742 (GRCm39) S59N unknown Het
Cmya5 T G 13: 93,230,164 (GRCm39) R1641S probably benign Het
Cps1 C A 1: 67,204,659 (GRCm39) T493K possibly damaging Het
Dmxl1 T A 18: 50,011,326 (GRCm39) M1161K probably damaging Het
Etl4 C T 2: 20,534,772 (GRCm39) Q76* probably null Het
Fn1 T C 1: 71,679,465 (GRCm39) Y511C probably damaging Het
Foxd2 T C 4: 114,765,483 (GRCm39) H179R unknown Het
Frem1 T C 4: 82,831,844 (GRCm39) R1991G probably benign Het
Gimap7 G A 6: 48,700,779 (GRCm39) E122K probably benign Het
Hps3 A G 3: 20,057,387 (GRCm39) probably null Het
Kctd2 A T 11: 115,318,345 (GRCm39) K209N probably damaging Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Muc5ac T C 7: 141,344,961 (GRCm39) V144A possibly damaging Het
Mypn T C 10: 63,028,289 (GRCm39) Y258C probably damaging Het
Ntf3 T C 6: 126,079,405 (GRCm39) M21V probably benign Het
Or4a71 T A 2: 89,358,076 (GRCm39) H226L possibly damaging Het
Or5b97 A T 19: 12,878,497 (GRCm39) C216S probably benign Het
Or6c1 A T 10: 129,518,088 (GRCm39) D173E probably benign Het
Or6c1 G A 10: 129,518,087 (GRCm39) H174Y possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbm45 A G 2: 76,205,768 (GRCm39) S207G probably benign Het
Robo3 G A 9: 37,333,477 (GRCm39) Q723* probably null Het
Rreb1 G T 13: 38,077,941 (GRCm39) R51L probably damaging Het
Slc12a6 T A 2: 112,097,375 (GRCm39) L70Q possibly damaging Het
Slc15a2 A G 16: 36,602,666 (GRCm39) F65S probably damaging Het
Slitrk5 T A 14: 111,917,229 (GRCm39) C284* probably null Het
Smim17 G T 7: 6,432,279 (GRCm39) G74C probably damaging Het
Snapc4 G A 2: 26,255,510 (GRCm39) Q1005* probably null Het
Suv39h2 G A 2: 3,465,845 (GRCm39) T170I probably benign Het
Thrb A G 14: 18,033,551 (GRCm38) K424R probably damaging Het
Tm4sf4 C T 3: 57,345,166 (GRCm39) Q191* probably null Het
Trak1 G T 9: 121,271,863 (GRCm39) probably null Het
Ttn A G 2: 76,540,618 (GRCm39) S25796P probably damaging Het
Utp15 C T 13: 98,395,674 (GRCm39) V103I probably benign Het
Wdr3 A T 3: 100,061,222 (GRCm39) S249T probably benign Het
Zeb1 T A 18: 5,748,743 (GRCm39) D86E probably damaging Het
Other mutations in Ugp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CCTTAAGCTAAAGGTCGGCTAC -3'
(R):5'- GGGTTGGCGTGTTAAAAGACTC -3'

Sequencing Primer
(F):5'- GTCGGCTACCTCCACACC -3'
(R):5'- AAACAGGCCTTAGTATTTTTGCCC -3'
Posted On 2015-04-30