Incidental Mutation 'R1980:Upp1'
ID 222168
Institutional Source Beutler Lab
Gene Symbol Upp1
Ensembl Gene ENSMUSG00000020407
Gene Name uridine phosphorylase 1
Synonyms UPase, Up, UdRPase
MMRRC Submission 039992-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R1980 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 9068103-9086170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9084872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 197 (D197V)
Ref Sequence ENSEMBL: ENSMUSP00000127473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020677] [ENSMUST00000101525] [ENSMUST00000130522] [ENSMUST00000164791] [ENSMUST00000170444] [ENSMUST00000172452]
AlphaFold P52624
Predicted Effect possibly damaging
Transcript: ENSMUST00000020677
AA Change: D197V

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020677
Gene: ENSMUSG00000020407
AA Change: D197V

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 55 305 1.9e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000101525
AA Change: D197V

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099063
Gene: ENSMUSG00000020407
AA Change: D197V

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 possibly damaging
Transcript: ENSMUST00000164791
AA Change: D197V

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127473
Gene: ENSMUSG00000020407
AA Change: D197V

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: ENSMUST00000170444
SMART Domains Protein: ENSMUSP00000125934
Gene: ENSMUSG00000020407

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 55 149 3.9e-10 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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.1%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A C 11: 100,386,702 (GRCm39) I620S possibly damaging Het
Acot8 A G 2: 164,636,964 (GRCm39) F262S probably damaging Het
Adgb C T 10: 10,309,242 (GRCm39) V246I probably benign Het
Akap9 T A 5: 4,022,771 (GRCm39) M1200K probably damaging Het
Alg11 T A 8: 22,551,903 (GRCm39) F16I possibly damaging Het
Apol7c A G 15: 77,410,244 (GRCm39) V234A probably benign Het
Arhgap19 T G 19: 41,776,784 (GRCm39) I122L possibly damaging Het
Arhgef37 A G 18: 61,641,767 (GRCm39) S201P probably damaging Het
Asgr1 A T 11: 69,945,772 (GRCm39) D16V probably damaging Het
Camta2 A T 11: 70,573,308 (GRCm39) C227S probably benign Het
Cd22 A T 7: 30,572,658 (GRCm39) L317Q probably damaging Het
Cenpf A T 1: 189,386,112 (GRCm39) I2056K probably benign Het
Cenpi T A X: 133,218,782 (GRCm39) F161L possibly damaging Het
Ciapin1 C T 8: 95,559,161 (GRCm39) V43I probably benign Het
Cox5b-ps T G 13: 21,685,294 (GRCm39) T99P possibly damaging Het
Dach1 A G 14: 98,068,777 (GRCm39) L601P probably damaging Het
Ddx11 T A 17: 66,455,734 (GRCm39) L711Q probably damaging Het
Dsg1a A T 18: 20,471,707 (GRCm39) N653I probably damaging Het
Fezf2 G T 14: 12,344,405 (GRCm38) P261T probably benign Het
Galnt5 T C 2: 57,914,735 (GRCm39) probably null Het
Gemin5 A G 11: 58,027,743 (GRCm39) L935P probably damaging Het
Gm9507 A T 10: 77,647,519 (GRCm39) C53* probably null Het
Irgm2 A G 11: 58,110,902 (GRCm39) I198V probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klf12 A C 14: 100,387,162 (GRCm39) probably null Het
Lpp C T 16: 24,480,451 (GRCm39) P73L probably damaging Het
Lrrc34 G A 3: 30,696,890 (GRCm39) H127Y probably benign Het
Lyar T C 5: 38,382,053 (GRCm39) S12P probably damaging Het
Maml3 A G 3: 52,011,473 (GRCm39) I31T unknown Het
Mei1 A G 15: 81,987,513 (GRCm39) N859S probably benign Het
Minar2 T A 18: 59,208,739 (GRCm39) M129K probably damaging Het
Mysm1 A T 4: 94,840,450 (GRCm39) N655K probably benign Het
Npnt T C 3: 132,653,893 (GRCm39) I29M probably benign Het
Nrxn1 A G 17: 91,395,746 (GRCm39) W137R probably benign Het
Numb C T 12: 83,844,118 (GRCm39) probably null Het
Obsl1 A G 1: 75,482,480 (GRCm39) F130S probably damaging Het
Or2h1 T G 17: 37,404,295 (GRCm39) Q157P probably damaging Het
Or4k47 T A 2: 111,451,586 (GRCm39) I278F probably benign Het
Pbx4 T C 8: 70,322,776 (GRCm39) V294A probably benign Het
Pde4dip A C 3: 97,664,312 (GRCm39) L524R possibly damaging Het
Plppr1 G A 4: 49,337,655 (GRCm39) A319T probably benign Het
Ppid A T 3: 79,500,925 (GRCm39) I32F probably damaging Het
Ppp4r3c1 A T X: 88,975,051 (GRCm39) V382E probably damaging Het
Prkcsh A G 9: 21,924,164 (GRCm39) D458G probably damaging Het
Prr27 A G 5: 87,991,261 (GRCm39) E291G probably benign Het
Psme4 A T 11: 30,782,615 (GRCm39) K923N possibly damaging Het
Rab25 T C 3: 88,450,765 (GRCm39) T45A probably damaging Het
Rapgef1 C T 2: 29,612,239 (GRCm39) P630S probably benign Het
Rasa2 T C 9: 96,452,821 (GRCm39) D355G probably damaging Het
Rel C T 11: 23,692,761 (GRCm39) G424D probably benign Het
Rtn4 A T 11: 29,658,634 (GRCm39) E929D probably benign Het
Samt3 A C X: 85,090,740 (GRCm39) M211L probably benign Het
Slk T G 19: 47,600,428 (GRCm39) I151S probably damaging Het
Spin1 T A 13: 51,298,506 (GRCm39) V175D probably damaging Het
Ssxb10 A G X: 8,197,258 (GRCm39) D77G probably benign Het
Ticam1 C T 17: 56,578,555 (GRCm39) R180H probably damaging Het
Tmem151b G C 17: 45,856,387 (GRCm39) P351R possibly damaging Het
Tmod1 A C 4: 46,061,043 (GRCm39) Y10S probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpm1 T C 7: 63,858,182 (GRCm39) Y225H possibly damaging Het
Ttc17 T C 2: 94,157,049 (GRCm39) N411S probably benign Het
Tyro3 A G 2: 119,639,298 (GRCm39) D335G probably benign Het
Unc79 C A 12: 102,977,538 (GRCm39) Y180* probably null Het
Vmn1r226 T A 17: 20,908,308 (GRCm39) M180K possibly damaging Het
Vtn T A 11: 78,392,724 (GRCm39) I434N probably damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp819 A G 7: 43,265,885 (GRCm39) T47A probably benign Het
Zyg11b G A 4: 108,123,127 (GRCm39) T280I probably damaging 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
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
R2214:Upp1 UTSW 11 9,086,033 (GRCm39) missense probably benign
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'- AACCGTGATCTGTGCATCTTC -3'
(R):5'- ACATGCCATTAAGATCTAGGGCC -3'

Sequencing Primer
(F):5'- GCATCTTCCTCAGGTCTGGAG -3'
(R):5'- TGTTACAGCCATCACAGAAATGC -3'
Posted On 2014-08-25