Incidental Mutation 'IGL03092:Ugp2'
ID 418434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ugp2
Ensembl Gene ENSMUSG00000001891
Gene Name UDP-glucose pyrophosphorylase 2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03092
Quality Score
Chromosome 11
Chromosomal Location 21271138-21321201 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 21279722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060895] [ENSMUST00000102875]
AlphaFold Q91ZJ5
Predicted Effect probably benign
Transcript: ENSMUST00000060895
SMART Domains Protein: ENSMUSP00000056324
Gene: ENSMUSG00000001891

low complexity region 14 29 N/A INTRINSIC
Pfam:UDPGP 43 462 2.1e-197 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102875
SMART Domains Protein: ENSMUSP00000099939
Gene: ENSMUSG00000001891

low complexity region 25 40 N/A INTRINSIC
Pfam:UDPGP 55 473 3.5e-201 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133343
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,200,119 (GRCm39) L491P probably damaging Het
Abcc6 T A 7: 45,635,894 (GRCm39) D1051V probably damaging Het
Actmap T C 7: 26,900,561 (GRCm39) M180T probably damaging Het
Aqr T A 2: 113,989,424 (GRCm39) E133V probably benign Het
Bag6 A G 17: 35,364,603 (GRCm39) N911D probably damaging Het
Cdcp3 G T 7: 130,803,527 (GRCm39) probably null Het
Ces4a C T 8: 105,874,836 (GRCm39) probably benign Het
Clec3b A T 9: 122,980,100 (GRCm39) probably benign Het
Cnot1 T C 8: 96,496,243 (GRCm39) probably benign Het
Ctsg T A 14: 56,337,417 (GRCm39) *262L probably null Het
Cyp17a1 T A 19: 46,661,050 (GRCm39) H78L possibly damaging Het
Dcaf13 C A 15: 38,991,371 (GRCm39) probably benign Het
Dcun1d1 G T 3: 35,975,141 (GRCm39) Q52K possibly damaging Het
Ddb1 C T 19: 10,590,309 (GRCm39) R279W probably damaging Het
Dock1 A G 7: 134,366,945 (GRCm39) probably benign Het
Dsel A G 1: 111,787,793 (GRCm39) L914P probably damaging Het
Fbxo31 A G 8: 122,286,757 (GRCm39) F174L probably benign Het
Gm9116 A G 3: 93,817,513 (GRCm39) noncoding transcript Het
Gspt1 C T 16: 11,056,763 (GRCm39) V211I probably benign Het
Hmgb1 A T 5: 148,987,508 (GRCm39) S14T probably benign Het
Igsf8 A G 1: 172,140,096 (GRCm39) probably benign Het
Klf13 A G 7: 63,541,417 (GRCm39) F237L probably damaging Het
Mon2 A T 10: 122,854,005 (GRCm39) I962N probably damaging Het
Nfx1 A G 4: 41,024,851 (GRCm39) D1108G probably damaging Het
Nr2e1 T C 10: 42,447,478 (GRCm39) Y178C probably damaging Het
Or4d10c C A 19: 12,065,230 (GRCm39) E309* probably null Het
Or52d1 A T 7: 103,755,854 (GRCm39) I123F probably damaging Het
Pde3b A T 7: 114,122,583 (GRCm39) H717L probably damaging Het
Polr1b T C 2: 128,965,049 (GRCm39) Y712H probably damaging Het
Pramel16 C A 4: 143,676,767 (GRCm39) K112N probably damaging Het
Rnf157 T A 11: 116,238,795 (GRCm39) probably null Het
Ros1 T C 10: 51,974,902 (GRCm39) E1561G probably damaging Het
Serpina6 A G 12: 103,620,154 (GRCm39) probably null Het
St18 A G 1: 6,839,118 (GRCm39) probably benign Het
Vmn1r70 T C 7: 10,368,186 (GRCm39) S225P probably benign Het
Zfp641 T C 15: 98,188,397 (GRCm39) D161G 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
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 2016-08-02