Incidental Mutation 'IGL03037:Ugp2'
ID408751
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ugp2
Ensembl Gene ENSMUSG00000001891
Gene NameUDP-glucose pyrophosphorylase 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03037
Quality Score
Status
Chromosome11
Chromosomal Location21321138-21371201 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 21332540 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 151 (K151*)
Ref Sequence ENSEMBL: ENSMUSP00000099939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060895] [ENSMUST00000102875]
Predicted Effect probably null
Transcript: ENSMUST00000060895
AA Change: K140*
SMART Domains Protein: ENSMUSP00000056324
Gene: ENSMUSG00000001891
AA Change: K140*

DomainStartEndE-ValueType
low complexity region 14 29 N/A INTRINSIC
Pfam:UDPGP 43 462 2.1e-197 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000102875
AA Change: K151*
SMART Domains Protein: ENSMUSP00000099939
Gene: ENSMUSG00000001891
AA Change: K151*

DomainStartEndE-ValueType
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik C A 3: 36,969,207 S2227R probably benign Het
4932438A13Rik T C 3: 36,969,208 S2229P probably damaging Het
Actl11 T C 9: 107,930,095 L539P probably damaging Het
Adam23 A T 1: 63,571,017 Q726L possibly damaging Het
Ago1 T C 4: 126,461,794 E74G probably benign Het
Atp6v1d C A 12: 78,857,348 probably benign Het
Cadm4 T A 7: 24,500,795 L243Q probably damaging Het
Camsap2 C A 1: 136,274,857 L1274F probably damaging Het
Car10 A G 11: 93,100,218 probably benign Het
Catsperd A T 17: 56,641,583 D186V possibly damaging Het
Cdc42bpg A G 19: 6,311,200 Y285C probably damaging Het
Cenpi T A X: 134,349,268 C599S possibly damaging Het
Cln8 A T 8: 14,894,679 probably benign Het
Cnksr1 T C 4: 134,235,106 probably null Het
Ddx5 T C 11: 106,782,104 N532D possibly damaging Het
Dock11 G T X: 36,047,046 probably benign Het
Dock8 A G 19: 25,086,181 E249G probably benign Het
Espnl T C 1: 91,341,921 V393A probably benign Het
Fam160a2 A T 7: 105,379,086 H885Q probably benign Het
Frrs1 T C 3: 116,902,467 probably benign Het
Fstl4 C A 11: 53,168,223 A503D possibly damaging Het
Gda T A 19: 21,434,309 I42L possibly damaging Het
Gprc5d C A 6: 135,116,321 C196F probably damaging Het
Hnrnpa0 A G 13: 58,127,953 F121L probably damaging Het
Hsd3b7 C T 7: 127,801,150 H24Y probably damaging Het
Ift140 T C 17: 25,092,394 S1188P probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mcemp1 C A 8: 3,667,055 Y65* probably null Het
Mmp16 C T 4: 17,996,222 P104S probably damaging Het
Mpst C A 15: 78,410,598 R177S probably benign Het
Nek1 A T 8: 61,034,052 T279S probably benign Het
Olfr1201 A G 2: 88,794,955 Y191C probably damaging Het
Olfr357 C T 2: 36,997,548 T246I probably benign Het
Olfr54 A T 11: 51,027,290 Y96F probably damaging Het
Olfr830 T A 9: 18,875,372 I12N probably damaging Het
Pard3 A T 8: 127,306,494 T190S probably benign Het
Pik3r4 A G 9: 105,650,813 D455G probably damaging Het
Piwil4 T C 9: 14,705,012 I756V possibly damaging Het
Pkhd1 A G 1: 20,522,699 L1730P probably benign Het
Pnpla3 T C 15: 84,172,759 I155T probably damaging Het
Prmt8 T C 6: 127,703,977 Y243C possibly damaging Het
Rbfox1 T A 16: 7,292,283 probably benign Het
Rps6ka2 G A 17: 7,254,450 probably null Het
Scaf8 A G 17: 3,190,221 K623E probably damaging Het
Slc26a4 A T 12: 31,531,687 probably benign Het
Slfn8 T A 11: 83,003,252 I854F probably damaging Het
Smarca4 T C 9: 21,632,935 probably benign Het
Sos1 T C 17: 80,420,329 D775G probably damaging Het
Spag17 G A 3: 100,072,170 probably null Het
Spata31d1d T A 13: 59,726,133 E1196V possibly damaging Het
Sqle T A 15: 59,321,397 Y208N probably damaging Het
Tcl1b5 C T 12: 105,179,014 T79M probably benign Het
Tdgf1 C A 9: 110,943,220 W36L probably benign Het
Tenm3 A G 8: 48,298,878 F959L possibly damaging Het
Tnfrsf19 T A 14: 61,024,272 K26I possibly damaging Het
Trappc10 A T 10: 78,199,035 probably benign Het
Trim80 T C 11: 115,441,593 W204R possibly damaging Het
Trpm3 A G 19: 22,889,412 T536A possibly damaging Het
Ttbk1 G A 17: 46,446,330 T1126I probably benign Het
Uaca A G 9: 60,840,865 D37G probably damaging Het
Ube3a T C 7: 59,247,223 probably benign Het
Ubqln2 C T X: 153,499,696 Q415* probably null Het
Wasf1 A G 10: 40,930,658 K99R probably benign Het
Wnt4 C T 4: 137,289,161 T42M possibly damaging Het
Zfp54 T A 17: 21,430,215 D17E probably damaging Het
Other mutations in Ugp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Ugp2 APN 11 21354345 missense probably benign
IGL01161:Ugp2 APN 11 21323273 missense possibly damaging 0.82
IGL01759:Ugp2 APN 11 21353447 missense probably benign 0.01
IGL03092:Ugp2 APN 11 21329722 splice site probably benign
bittern UTSW 11 21322051 splice site probably null
PIT4377001:Ugp2 UTSW 11 21370203 start codon destroyed probably null 0.33
R1538:Ugp2 UTSW 11 21333791 missense possibly damaging 0.88
R1658:Ugp2 UTSW 11 21333774 missense probably benign
R1771:Ugp2 UTSW 11 21329915 missense probably damaging 1.00
R1874:Ugp2 UTSW 11 21329048 missense probably damaging 1.00
R1970:Ugp2 UTSW 11 21328942 missense probably damaging 0.99
R2143:Ugp2 UTSW 11 21328949 missense probably benign
R2431:Ugp2 UTSW 11 21329025 missense probably damaging 1.00
R3888:Ugp2 UTSW 11 21353366 missense probably benign 0.01
R4352:Ugp2 UTSW 11 21329026 missense probably damaging 0.99
R5018:Ugp2 UTSW 11 21331052 missense probably damaging 1.00
R6125:Ugp2 UTSW 11 21329815 missense probably damaging 0.97
R6388:Ugp2 UTSW 11 21322051 splice site probably null
R6466:Ugp2 UTSW 11 21328883 missense probably benign 0.01
R6626:Ugp2 UTSW 11 21331028 missense probably damaging 1.00
R7219:Ugp2 UTSW 11 21323271 missense probably damaging 1.00
R7822:Ugp2 UTSW 11 21333762 missense probably benign
Posted On2016-08-02