Incidental Mutation 'R4063:Upp1'
ID 315976
Institutional Source Beutler Lab
Gene Symbol Upp1
Ensembl Gene ENSMUSG00000020407
Gene Name uridine phosphorylase 1
Synonyms UPase, Up, UdRPase
MMRRC Submission 041619-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R4063 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 9068103-9086170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 9081709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 82 (P82Q)
Ref Sequence ENSEMBL: ENSMUSP00000129787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020677] [ENSMUST00000101525] [ENSMUST00000130522] [ENSMUST00000164791] [ENSMUST00000170444] [ENSMUST00000172452]
AlphaFold P52624
Predicted Effect probably damaging
Transcript: ENSMUST00000020677
AA Change: P82Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020677
Gene: ENSMUSG00000020407
AA Change: P82Q

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 55 305 1.9e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101525
AA Change: P82Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099063
Gene: ENSMUSG00000020407
AA Change: P82Q

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 55 305 1.9e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130522
AA Change: P82Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123285
Gene: ENSMUSG00000020407
AA Change: P82Q

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 damaging
Transcript: ENSMUST00000164791
AA Change: P82Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127473
Gene: ENSMUSG00000020407
AA Change: P82Q

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 55 305 1.9e-32 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000166455
AA Change: P71Q
SMART Domains Protein: ENSMUSP00000129276
Gene: ENSMUSG00000020407
AA Change: P71Q

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 45 143 6.9e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170444
AA Change: P82Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125934
Gene: ENSMUSG00000020407
AA Change: P82Q

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 55 149 3.9e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172452
AA Change: P82Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129787
Gene: ENSMUSG00000020407
AA Change: P82Q

DomainStartEndE-ValueType
PDB:3NBQ|D 1 114 4e-60 PDB
SCOP:d1lx7a_ 35 114 7e-10 SMART
Meta Mutation Damage Score 0.1361 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (59/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A T 6: 146,854,606 (GRCm39) F145L probably benign Het
Abcc9 T C 6: 142,551,645 (GRCm39) D1221G possibly damaging Het
Adamtsl4 T C 3: 95,584,864 (GRCm39) K935E probably benign Het
Ago4 A T 4: 126,409,655 (GRCm39) probably benign Het
Arhgef28 T C 13: 98,130,575 (GRCm39) D421G probably benign Het
Armh4 T A 14: 50,011,444 (GRCm39) M88L probably benign Het
Atl2 T C 17: 80,157,588 (GRCm39) *413W probably null Het
B4galt7 C A 13: 55,756,152 (GRCm39) probably null Het
Bltp3b A G 10: 89,651,917 (GRCm39) N247S probably benign Het
C8g A T 2: 25,389,425 (GRCm39) S147T probably damaging Het
Clstn3 A T 6: 124,426,792 (GRCm39) Y510N possibly damaging Het
Cnot2 A G 10: 116,373,301 (GRCm39) V34A possibly damaging Het
Cyb5d2 A T 11: 72,686,606 (GRCm39) probably benign Het
Dnah5 T C 15: 28,421,144 (GRCm39) I3827T probably damaging Het
Dnah7a G T 1: 53,464,376 (GRCm39) Q3672K probably benign Het
Dock1 A T 7: 134,717,021 (GRCm39) Y1219F possibly damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fat1 A T 8: 45,478,518 (GRCm39) E2521D probably benign Het
Gm10719 G T 9: 3,019,043 (GRCm39) W96L probably damaging Het
H2-M2 G A 17: 37,792,399 (GRCm39) H291Y probably damaging Het
Hmgcl T C 4: 135,686,035 (GRCm39) Y167H probably damaging Het
Il22ra2 A T 10: 19,502,400 (GRCm39) D73V possibly damaging Het
Incenp A T 19: 9,861,142 (GRCm39) M480K unknown Het
Irag1 G T 7: 110,522,984 (GRCm39) A359D probably benign Het
Kdm6a A G X: 18,117,114 (GRCm39) T266A probably benign Het
Lipf A G 19: 33,942,965 (GRCm39) N91S probably benign Het
M1ap A T 6: 82,980,756 (GRCm39) N214I probably damaging Het
Mast3 A G 8: 71,233,838 (GRCm39) V969A probably damaging Het
Mdga1 A G 17: 30,057,005 (GRCm39) C826R probably damaging Het
Msx1 C A 5: 37,981,365 (GRCm39) A105S probably benign Het
Or5ac23 A C 16: 59,149,243 (GRCm39) S210A probably benign Het
Otogl A T 10: 107,626,510 (GRCm39) D1451E probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Ppp1r13l A T 7: 19,103,978 (GRCm39) H153L probably benign Het
Pramel21 A G 4: 143,342,559 (GRCm39) D222G possibly damaging Het
Pramel29 T C 4: 143,935,265 (GRCm39) K161E possibly damaging Het
Proz A G 8: 13,114,621 (GRCm39) Y85C probably damaging Het
Prss50 A G 9: 110,687,480 (GRCm39) D141G probably benign Het
Rad54l2 T A 9: 106,597,613 (GRCm39) Q131L probably benign Het
Sdha A G 13: 74,472,077 (GRCm39) probably benign Het
Sema3d T A 5: 12,635,091 (GRCm39) I719N probably benign Het
Slc18b1 A T 10: 23,681,879 (GRCm39) I148L probably benign Het
Tacc2 G T 7: 130,330,852 (GRCm39) D2086Y probably damaging Het
Tchh T C 3: 93,354,298 (GRCm39) L1246P unknown Het
Tmprss11d T C 5: 86,457,177 (GRCm39) I161V probably benign Het
Trpc3 T C 3: 36,725,172 (GRCm39) D268G probably damaging Het
Trpm8 G A 1: 88,289,727 (GRCm39) R895H probably damaging Het
Txndc2 A G 17: 65,945,079 (GRCm39) I366T possibly damaging Het
Ugt2a3 T C 5: 87,484,725 (GRCm39) I100V probably benign Het
Vim A G 2: 13,584,827 (GRCm39) probably null Het
Vmn2r12 A T 5: 109,240,058 (GRCm39) N168K possibly damaging Het
Zdhhc14 G T 17: 5,802,983 (GRCm39) C362F probably damaging Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Zswim5 G A 4: 116,735,177 (GRCm39) G174D unknown 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
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
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'- TAGTCCCTTCAGATACACCTGG -3'
(R):5'- ACAAACACTAGGGTGCCAGC -3'

Sequencing Primer
(F):5'- AAACTTGCTAGGAAGTTCCCAG -3'
(R):5'- AACACTAGGGTGCCAGCTGTTC -3'
Posted On 2015-05-15