Incidental Mutation 'R6466:Ugp2'
ID 516591
Institutional Source Beutler Lab
Gene Symbol Ugp2
Ensembl Gene ENSMUSG00000001891
Gene Name UDP-glucose pyrophosphorylase 2
MMRRC Submission 044599-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6466 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 21321138-21371201 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21328883 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 434 (S434R)
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: S423R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000056324
Gene: ENSMUSG00000001891
AA Change: S423R

low complexity region 14 29 N/A INTRINSIC
Pfam:UDPGP 43 462 2.1e-197 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102875
AA Change: S434R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099939
Gene: ENSMUSG00000001891
AA Change: S434R

low complexity region 25 40 N/A INTRINSIC
Pfam:UDPGP 55 473 3.5e-201 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133343
Meta Mutation Damage Score 0.0812 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.1%
Validation Efficiency 98% (56/57)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190005I06Rik A T 8: 120,608,996 (GRCm38) D69E probably damaging Het
Adgrv1 G T 13: 81,575,101 (GRCm38) probably null Het
Ahr A T 12: 35,504,032 (GRCm38) V696E probably benign Het
Akap13 A G 7: 75,727,044 (GRCm38) T2007A probably benign Het
Arid1b T C 17: 5,327,678 (GRCm38) F753S probably damaging Het
BC055324 G T 1: 163,954,165 (GRCm38) R898S probably benign Het
Bpifb3 G T 2: 153,922,188 (GRCm38) K105N probably damaging Het
C2cd2 A G 16: 97,879,622 (GRCm38) C331R probably benign Het
Chrm1 T A 19: 8,678,178 (GRCm38) Y82* probably null Het
Clcn3 A C 8: 60,929,561 (GRCm38) V331G probably damaging Het
Dchs1 A T 7: 105,764,541 (GRCm38) D1022E probably benign Het
Dnah2 T A 11: 69,539,415 (GRCm38) T106S probably benign Het
Fam171a2 T A 11: 102,439,885 (GRCm38) D256V probably damaging Het
Fmn2 T A 1: 174,609,583 (GRCm38) probably benign Het
Fut11 C T 14: 20,695,309 (GRCm38) R103W probably damaging Het
Gas2l2 A C 11: 83,429,353 (GRCm38) S26A probably damaging Het
Gm13178 T A 4: 144,703,867 (GRCm38) D184V probably damaging Het
Gramd1a A T 7: 31,143,796 (GRCm38) I29N probably benign Het
Grem2 A G 1: 174,836,884 (GRCm38) V133A probably damaging Het
Hydin T A 8: 110,506,968 (GRCm38) S1813T possibly damaging Het
Igkv3-2 T C 6: 70,699,039 (GRCm38) F111L probably benign Het
Ints8 T C 4: 11,252,878 (GRCm38) Q68R probably damaging Het
Irx5 A G 8: 92,359,726 (GRCm38) I146V probably damaging Het
Kcnh3 T C 15: 99,238,243 (GRCm38) L707P probably damaging Het
Kcnk4 T A 19: 6,928,297 (GRCm38) I101F probably damaging Het
Klhl9 A G 4: 88,721,162 (GRCm38) Y281H probably benign Het
Klra9 G T 6: 130,179,032 (GRCm38) Y253* probably null Het
Lmbr1 C T 5: 29,378,168 (GRCm38) A9T probably benign Het
Map10 G T 8: 125,672,384 (GRCm38) E839* probably null Het
Nectin4 C A 1: 171,386,753 (GRCm38) A492D probably damaging Het
Nfat5 T A 8: 107,355,508 (GRCm38) probably null Het
Olfr467 A G 7: 107,814,694 (GRCm38) T37A probably benign Het
Plec A G 15: 76,177,884 (GRCm38) Y2608H probably benign Het
Pold3 A G 7: 100,100,632 (GRCm38) S42P probably benign Het
Ppp2r1a G T 17: 20,960,631 (GRCm38) G432* probably null Het
Qk T C 17: 10,215,465 (GRCm38) E315G probably benign Het
Rfx2 C T 17: 56,784,397 (GRCm38) V354I probably benign Het
Rp1 T C 1: 4,347,886 (GRCm38) Y1001C probably benign Het
Sez6l A G 5: 112,461,141 (GRCm38) probably null Het
Slc39a14 A G 14: 70,309,886 (GRCm38) I337T probably damaging Het
Slc3a2 G T 19: 8,709,319 (GRCm38) L76M probably damaging Het
Slco1a5 T C 6: 142,237,534 (GRCm38) T555A probably benign Het
Sprr2e A T 3: 92,353,034 (GRCm38) K57N unknown Het
Syne2 A G 12: 75,943,901 (GRCm38) T1886A probably damaging Het
Tenm3 A T 8: 48,236,063 (GRCm38) I2147N probably damaging Het
Thbs1 G T 2: 118,119,847 (GRCm38) G654W probably damaging Het
Tigd5 A G 15: 75,910,503 (GRCm38) Y238C possibly damaging Het
Tmem221 A G 8: 71,557,849 (GRCm38) F126S probably damaging Het
Trp63 C A 16: 25,763,358 (GRCm38) P52Q probably damaging Het
Vmn2r69 A C 7: 85,407,170 (GRCm38) F587V probably benign Het
Vps13d T A 4: 145,057,495 (GRCm38) N3872I possibly damaging Het
Wdfy2 A G 14: 62,948,666 (GRCm38) Y250C probably damaging Het
Zbtb16 T C 9: 48,665,319 (GRCm38) D487G possibly damaging Het
Other mutations in Ugp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Ugp2 APN 11 21,354,345 (GRCm38) missense probably benign
IGL01161:Ugp2 APN 11 21,323,273 (GRCm38) missense possibly damaging 0.82
IGL01759:Ugp2 APN 11 21,353,447 (GRCm38) missense probably benign 0.01
IGL03037:Ugp2 APN 11 21,332,540 (GRCm38) nonsense probably null
IGL03092:Ugp2 APN 11 21,329,722 (GRCm38) splice site probably benign
bittern UTSW 11 21,322,051 (GRCm38) splice site probably null
PIT4377001:Ugp2 UTSW 11 21,370,203 (GRCm38) start codon destroyed probably null 0.33
R1538:Ugp2 UTSW 11 21,333,791 (GRCm38) missense possibly damaging 0.88
R1658:Ugp2 UTSW 11 21,333,774 (GRCm38) missense probably benign
R1771:Ugp2 UTSW 11 21,329,915 (GRCm38) missense probably damaging 1.00
R1874:Ugp2 UTSW 11 21,329,048 (GRCm38) missense probably damaging 1.00
R1970:Ugp2 UTSW 11 21,328,942 (GRCm38) missense probably damaging 0.99
R2143:Ugp2 UTSW 11 21,328,949 (GRCm38) missense probably benign
R2431:Ugp2 UTSW 11 21,329,025 (GRCm38) missense probably damaging 1.00
R3888:Ugp2 UTSW 11 21,353,366 (GRCm38) missense probably benign 0.01
R4352:Ugp2 UTSW 11 21,329,026 (GRCm38) missense probably damaging 0.99
R5018:Ugp2 UTSW 11 21,331,052 (GRCm38) missense probably damaging 1.00
R6125:Ugp2 UTSW 11 21,329,815 (GRCm38) missense probably damaging 0.97
R6388:Ugp2 UTSW 11 21,322,051 (GRCm38) splice site probably null
R6626:Ugp2 UTSW 11 21,331,028 (GRCm38) missense probably damaging 1.00
R7219:Ugp2 UTSW 11 21,323,271 (GRCm38) missense probably damaging 1.00
R7822:Ugp2 UTSW 11 21,333,762 (GRCm38) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-05-21