Incidental Mutation 'R3401:Uprt'
ID 259208
Institutional Source Beutler Lab
Gene Symbol Uprt
Ensembl Gene ENSMUSG00000073016
Gene Name uracil phosphoribosyltransferase
Synonyms LOC331487
MMRRC Submission 040620-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.367) question?
Stock # R3401 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 103526424-103551096 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103549864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 310 (D310G)
Ref Sequence ENSEMBL: ENSMUSP00000085175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087867]
AlphaFold B1AVZ0
Predicted Effect probably damaging
Transcript: ENSMUST00000087867
AA Change: D310G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085175
Gene: ENSMUSG00000073016
AA Change: D310G

DomainStartEndE-ValueType
Pfam:UPRTase 114 309 5.6e-56 PFAM
Meta Mutation Damage Score 0.6146 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (30/30)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes uracil phosphoribosyltransferase, which catalyzes the conversion of uracil and 5-phosphoribosyl-1-R-diphosphate to uridine monophosphate (UMP). This reaction is an important part of nucleotide metabolism, specifically the pyrimidine salvage pathway. The enzyme localizes to the nucleus and cytoplasm. The protein is a potential target for rational design of drugs to treat parasitic infections and cancer. [provided by RefSeq, Nov 2009]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B3gat1 C A 9: 26,667,149 (GRCm39) T127K probably damaging Het
Cactin G A 10: 81,161,709 (GRCm39) R747H probably benign Het
Cul5 A T 9: 53,532,512 (GRCm39) M747K probably benign Het
Dennd4c C T 4: 86,692,780 (GRCm39) P97S probably damaging Het
Dnah3 A G 7: 119,566,879 (GRCm39) V2449A probably benign Het
Eif1ad T C 19: 5,418,276 (GRCm39) V20A probably benign Het
Faim2 C T 15: 99,418,229 (GRCm39) V119I probably damaging Het
Fli1 G A 9: 32,372,570 (GRCm39) S156L probably damaging Het
Gucy1a2 T A 9: 3,635,154 (GRCm39) D399E probably benign Het
Hip1r A G 5: 124,135,046 (GRCm39) E394G probably damaging Het
Htr2a T C 14: 74,882,499 (GRCm39) S162P probably damaging Het
Naip5 G A 13: 100,358,411 (GRCm39) Q942* probably null Het
Ndrg3 C T 2: 156,790,208 (GRCm39) V92M probably damaging Het
Nlrp4d A T 7: 10,096,781 (GRCm39) N906K probably damaging Het
Pkd2 A G 5: 104,628,193 (GRCm39) I422M possibly damaging Het
Polr3b C T 10: 84,535,355 (GRCm39) T888M probably damaging Het
Ppp1r37 C T 7: 19,266,712 (GRCm39) A392T probably damaging Het
Ralgapa1 T C 12: 55,705,922 (GRCm39) T2323A possibly damaging Het
Sntg2 A G 12: 30,338,171 (GRCm39) probably benign Het
Stard9 A G 2: 120,534,170 (GRCm39) I3476V probably damaging Het
Tead2 T A 7: 44,873,097 (GRCm39) probably benign Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Tmem74 C T 15: 43,730,417 (GRCm39) V209M probably damaging Het
Trim25 T C 11: 88,901,707 (GRCm39) M334T probably benign Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Zfp157 T A 5: 138,455,273 (GRCm39) N490K probably benign Het
Zhx1 T C 15: 57,917,745 (GRCm39) E167G probably benign Het
Other mutations in Uprt
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3545:Uprt UTSW X 103,526,934 (GRCm39) missense probably damaging 1.00
R3547:Uprt UTSW X 103,526,934 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGTATCCAAAGATGTTTCCTGG -3'
(R):5'- CATCGGTTTTAAGCACTGAGGTTG -3'

Sequencing Primer
(F):5'- GAAGGTGCCAAATCAATCAT -3'
(R):5'- TGGTACCACATGTGAAGAAATGATC -3'
Posted On 2015-01-23