Incidental Mutation 'R2214:Upp1'
ID 241029
Institutional Source Beutler Lab
Gene Symbol Upp1
Ensembl Gene ENSMUSG00000020407
Gene Name uridine phosphorylase 1
Synonyms UPase, Up, UdRPase
MMRRC Submission 040216-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R2214 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 9068103-9086170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9086033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 290 (V290E)
Ref Sequence ENSEMBL: ENSMUSP00000127473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020677] [ENSMUST00000101525] [ENSMUST00000130522] [ENSMUST00000164791] [ENSMUST00000172452] [ENSMUST00000170444]
AlphaFold P52624
Predicted Effect probably benign
Transcript: ENSMUST00000020677
AA Change: V290E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020677
Gene: ENSMUSG00000020407
AA Change: V290E

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 55 305 1.9e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101525
AA Change: V290E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099063
Gene: ENSMUSG00000020407
AA Change: V290E

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 55 305 1.9e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130522
SMART Domains Protein: ENSMUSP00000123285
Gene: ENSMUSG00000020407

DomainStartEndE-ValueType
PDB:3NBQ|D 1 137 9e-76 PDB
SCOP:d1k9sa_ 43 127 1e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146696
Predicted Effect probably benign
Transcript: ENSMUST00000164791
AA Change: V290E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127473
Gene: ENSMUSG00000020407
AA Change: V290E

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 55 305 1.9e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166455
SMART Domains Protein: ENSMUSP00000129276
Gene: ENSMUSG00000020407

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 45 143 6.9e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172452
SMART Domains Protein: ENSMUSP00000129787
Gene: ENSMUSG00000020407

DomainStartEndE-ValueType
PDB:3NBQ|D 1 114 4e-60 PDB
SCOP:d1lx7a_ 35 114 7e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170444
SMART Domains Protein: ENSMUSP00000125934
Gene: ENSMUSG00000020407

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 55 149 3.9e-10 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a uridine phosphorylase, an enzyme that catalyzes the reversible phosphorylation of uridine (or 2'- deoxyuridine) to uracil and ribose-1-phosphate (or deoxyribose-1-phosphate). The encoded enzyme functions in the degradation and salvage of pyrimidine ribonucleosides. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a targeted disruption have increased uridine concentration in tissues, urine and blood, along with disorders of various nucleotide metabolisms and decreased sensitivity to pentobarbital and 5-fluorouracil. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,926,946 (GRCm39) Y516C probably benign Het
Adam22 C T 5: 8,186,805 (GRCm39) probably null Het
Akap8l T C 17: 32,557,799 (GRCm39) probably null Het
Casr T C 16: 36,336,120 (GRCm39) Y63C probably damaging Het
Ccdc178 T C 18: 22,048,047 (GRCm39) D781G possibly damaging Het
Col9a1 C A 1: 24,247,283 (GRCm39) P168Q probably damaging Het
Dnm2 T C 9: 21,397,019 (GRCm39) probably null Het
Dst C T 1: 34,310,482 (GRCm39) T6325M probably damaging Het
Ercc4 C A 16: 12,927,888 (GRCm39) D19E probably damaging Het
Gm1110 C A 9: 26,813,786 (GRCm39) V198L probably benign Het
Gm8674 T A 13: 50,055,396 (GRCm39) noncoding transcript Het
Grm7 A T 6: 111,335,958 (GRCm39) I790F probably damaging Het
Habp2 A G 19: 56,306,249 (GRCm39) D445G possibly damaging Het
Kat7 G A 11: 95,166,631 (GRCm39) T517I probably damaging Het
Kbtbd11 T A 8: 15,079,178 (GRCm39) D592E possibly damaging Het
Lgals8 T A 13: 12,469,713 (GRCm39) Q82L probably benign Het
Lmtk3 A G 7: 45,444,277 (GRCm39) probably benign Het
Map2 A T 1: 66,459,345 (GRCm39) D1530V probably damaging Het
Map2k6 G A 11: 110,387,167 (GRCm39) V180I probably damaging Het
Map3k5 T A 10: 19,902,035 (GRCm39) probably null Het
Mtor A G 4: 148,623,327 (GRCm39) E2059G probably benign Het
Myh10 A G 11: 68,673,953 (GRCm39) D660G probably damaging Het
Myo16 T A 8: 10,488,803 (GRCm39) V658E probably damaging Het
Nckap5 A T 1: 125,953,487 (GRCm39) S1090T possibly damaging Het
Nhlrc3 T C 3: 53,363,875 (GRCm39) H217R probably damaging Het
Ntrk3 T A 7: 78,166,520 (GRCm39) I118F probably damaging Het
Or14a259 T A 7: 86,013,414 (GRCm39) I44F probably benign Het
Or1e29 A T 11: 73,667,655 (GRCm39) L166* probably null Het
Or4p20 C T 2: 88,253,461 (GRCm39) V303M probably benign Het
Paxip1 T C 5: 27,947,499 (GRCm39) Y1053C probably damaging Het
Pfkfb4 T A 9: 108,834,677 (GRCm39) F117I probably benign Het
Pp2d1 T C 17: 53,822,424 (GRCm39) Y214C probably benign Het
Prr7 C A 13: 55,620,613 (GRCm39) S207* probably null Het
Ptprh T A 7: 4,555,921 (GRCm39) Q715L possibly damaging Het
Rasgrp1 A T 2: 117,115,646 (GRCm39) D647E probably damaging Het
Rnf20 T A 4: 49,648,344 (GRCm39) M384K possibly damaging Het
Rps6kb1 A T 11: 86,424,896 (GRCm39) C37S possibly damaging Het
Serpinb9f C A 13: 33,518,592 (GRCm39) T364K probably benign Het
Sorbs1 C T 19: 40,285,075 (GRCm39) A641T probably damaging Het
Srrm2 T C 17: 24,035,719 (GRCm39) probably benign Het
Stag3 C T 5: 138,299,528 (GRCm39) S849L possibly damaging Het
Syt15 A T 14: 33,944,989 (GRCm39) S179C probably damaging Het
Tapbp T C 17: 34,139,300 (GRCm39) F90L possibly damaging Het
Timm23 A T 14: 31,920,944 (GRCm39) D49E probably damaging Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null Het
Tmem174 A C 13: 98,773,757 (GRCm39) S24R possibly damaging Het
Tmem63a A G 1: 180,788,679 (GRCm39) S339G probably benign Het
Tsc22d2 A G 3: 58,323,627 (GRCm39) Y173C probably damaging Het
Ubap2 A G 4: 41,199,714 (GRCm39) probably null Het
Uqcc4 T C 17: 25,403,699 (GRCm39) V13A probably benign Het
Usp17lb A T 7: 104,490,639 (GRCm39) M96K probably benign Het
Wdr20rt A G 12: 65,274,187 (GRCm39) E449G probably damaging Het
Zkscan8 A T 13: 21,705,082 (GRCm39) S286T probably benign Het
Other mutations in Upp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Upp1 APN 11 9,086,100 (GRCm39) makesense probably null
IGL01870:Upp1 APN 11 9,075,700 (GRCm39) critical splice donor site probably null
IGL02125:Upp1 APN 11 9,075,650 (GRCm39) utr 5 prime probably benign
R0373:Upp1 UTSW 11 9,079,590 (GRCm39) missense probably benign 0.01
R1501:Upp1 UTSW 11 9,084,708 (GRCm39) splice site probably null
R1617:Upp1 UTSW 11 9,084,865 (GRCm39) missense probably damaging 0.99
R1980:Upp1 UTSW 11 9,084,872 (GRCm39) missense possibly damaging 0.67
R2018:Upp1 UTSW 11 9,083,240 (GRCm39) missense possibly damaging 0.94
R2019:Upp1 UTSW 11 9,083,240 (GRCm39) missense possibly damaging 0.94
R3425:Upp1 UTSW 11 9,075,700 (GRCm39) critical splice donor site probably null
R4063:Upp1 UTSW 11 9,081,709 (GRCm39) missense probably damaging 1.00
R4247:Upp1 UTSW 11 9,084,815 (GRCm39) missense probably benign
R4776:Upp1 UTSW 11 9,085,976 (GRCm39) missense probably damaging 0.98
R5160:Upp1 UTSW 11 9,085,193 (GRCm39) missense possibly damaging 0.68
R5500:Upp1 UTSW 11 9,081,774 (GRCm39) missense probably damaging 1.00
R5514:Upp1 UTSW 11 9,081,771 (GRCm39) missense probably damaging 1.00
R5677:Upp1 UTSW 11 9,086,025 (GRCm39) missense probably benign
R6825:Upp1 UTSW 11 9,081,707 (GRCm39) missense probably benign
R7325:Upp1 UTSW 11 9,084,743 (GRCm39) missense probably damaging 0.98
R8749:Upp1 UTSW 11 9,079,561 (GRCm39) missense probably damaging 1.00
R9257:Upp1 UTSW 11 9,075,661 (GRCm39) missense probably benign 0.00
R9633:Upp1 UTSW 11 9,084,909 (GRCm39) missense
R9642:Upp1 UTSW 11 9,085,206 (GRCm39) missense probably benign 0.00
X0022:Upp1 UTSW 11 9,075,682 (GRCm39) missense possibly damaging 0.53
X0022:Upp1 UTSW 11 9,075,681 (GRCm39) missense probably benign 0.00
X0027:Upp1 UTSW 11 9,084,857 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGTTTCCCGAGGTATTGCAG -3'
(R):5'- GAACAATCTGTGTGTCTAACTCG -3'

Sequencing Primer
(F):5'- ATTGCAGGCTGATCCTCAG -3'
(R):5'- ACTCGGATTTCTAACTGGCAG -3'
Posted On 2014-10-15