Incidental Mutation 'R1400:Upp2'
ID 160305
Institutional Source Beutler Lab
Gene Symbol Upp2
Ensembl Gene ENSMUSG00000026839
Gene Name uridine phosphorylase 2
Synonyms UPASE2, UP2, UDRPASE2, 1700124F02Rik
MMRRC Submission 039462-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R1400 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 58457310-58682983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58680118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 263 (Y263H)
Ref Sequence ENSEMBL: ENSMUSP00000154977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059102] [ENSMUST00000071543] [ENSMUST00000102755] [ENSMUST00000229923] [ENSMUST00000230627]
AlphaFold Q8CGR7
Predicted Effect probably damaging
Transcript: ENSMUST00000059102
AA Change: Y315H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060437
Gene: ENSMUSG00000026839
AA Change: Y315H

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 78 328 6.4e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071543
SMART Domains Protein: ENSMUSP00000071474
Gene: ENSMUSG00000026839

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:PNP_UDP_1 98 316 7.1e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102755
AA Change: Y297H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099816
Gene: ENSMUSG00000026839
AA Change: Y297H

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 60 310 4.2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128864
Predicted Effect probably benign
Transcript: ENSMUST00000229923
Predicted Effect probably damaging
Transcript: ENSMUST00000230627
AA Change: Y263H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130008F23Rik T C 17: 41,191,195 (GRCm39) E78G probably damaging Het
Acsf2 T C 11: 94,461,142 (GRCm39) I345V probably benign Het
Akap11 T A 14: 78,751,402 (GRCm39) K328N probably damaging Het
Aoc1 T A 6: 48,883,217 (GRCm39) Y364* probably null Het
Aoc1 A T 6: 48,883,645 (GRCm39) Q507L probably benign Het
Atp6v1c2 T C 12: 17,339,131 (GRCm39) T207A probably benign Het
Atr C A 9: 95,744,901 (GRCm39) Q73K probably benign Het
Cage1 A G 13: 38,216,400 (GRCm39) S17P possibly damaging Het
Cfap44 A T 16: 44,241,575 (GRCm39) I649F probably benign Het
Cops4 A G 5: 100,681,412 (GRCm39) K200R probably damaging Het
Crygd A G 1: 65,102,367 (GRCm39) S32P probably damaging Het
Cyp3a11 A G 5: 145,799,299 (GRCm39) I296T probably damaging Het
Fads3 A G 19: 10,033,664 (GRCm39) probably null Het
Fbn2 T C 18: 58,213,265 (GRCm39) E974G possibly damaging Het
Gcgr A G 11: 120,425,812 (GRCm39) H45R probably benign Het
Gcn1 T C 5: 115,752,220 (GRCm39) I2112T probably damaging Het
Gm43302 A T 5: 105,422,622 (GRCm39) I470N probably damaging Het
Hoxa13 C G 6: 52,260,647 (GRCm38) probably benign Het
Hoxa13 G C 6: 52,260,648 (GRCm38) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Krt13 C A 11: 100,012,110 (GRCm39) G71V probably damaging Het
Las1l T C X: 94,990,506 (GRCm39) T390A possibly damaging Het
Lifr T A 15: 7,220,346 (GRCm39) V992E probably benign Het
Mbd5 T C 2: 49,164,788 (GRCm39) probably null Het
Mzf1 C A 7: 12,786,698 (GRCm39) R124L possibly damaging Het
Ndst3 A G 3: 123,350,477 (GRCm39) F636S probably damaging Het
Necab1 T C 4: 14,975,185 (GRCm39) D232G possibly damaging Het
Nlrp4e A T 7: 23,021,085 (GRCm39) E524V possibly damaging Het
Nxf3 T A X: 134,976,794 (GRCm39) T349S probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or4c12 T A 2: 89,773,886 (GRCm39) H191L possibly damaging Het
Or4n5 A T 14: 50,133,148 (GRCm39) I37K possibly damaging Het
Or7g29 A G 9: 19,286,358 (GRCm39) V273A probably damaging Het
Or9g19 T C 2: 85,600,477 (GRCm39) C111R possibly damaging Het
Plscr1l1 G T 9: 92,233,180 (GRCm39) C25F probably benign Het
Ppm1e T A 11: 87,122,592 (GRCm39) N455I probably damaging Het
Prkag2 G A 5: 25,078,916 (GRCm39) T158I probably damaging Het
Ptpn18 T C 1: 34,502,587 (GRCm39) probably null Het
Rai14 T G 15: 10,571,634 (GRCm39) K936N probably damaging Het
Rasgrf2 A G 13: 92,035,808 (GRCm39) L1077P probably damaging Het
Rgn C A X: 20,416,696 (GRCm39) Q27K probably benign Het
Ryr2 C T 13: 11,609,962 (GRCm39) S723N probably benign Het
Scamp1 A G 13: 94,361,455 (GRCm39) F142L possibly damaging Het
Selenon A G 4: 134,278,829 (GRCm39) V67A probably benign Het
Slc5a5 T C 8: 71,342,079 (GRCm39) I292V possibly damaging Het
Smarca2 C A 19: 26,654,140 (GRCm39) T775K probably damaging Het
Stab1 C T 14: 30,861,787 (GRCm39) V2437I possibly damaging Het
Tas2r143 C T 6: 42,377,317 (GRCm39) A49V probably benign Het
Tlr7 T A X: 166,090,845 (GRCm39) N214Y probably damaging Het
Unc13a C A 8: 72,103,865 (GRCm39) D856Y probably damaging Het
Vill T C 9: 118,892,415 (GRCm39) S349P probably benign Het
Zfp644 T C 5: 106,785,336 (GRCm39) probably null Het
Zfp664 T C 5: 124,963,217 (GRCm39) C204R unknown Het
Zfp729b A G 13: 67,740,913 (GRCm39) Y451H possibly damaging Het
Other mutations in Upp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Upp2 APN 2 58,680,076 (GRCm39) missense probably benign 0.43
IGL01716:Upp2 APN 2 58,680,058 (GRCm39) missense probably damaging 0.99
IGL02069:Upp2 APN 2 58,661,429 (GRCm39) splice site probably benign
IGL02349:Upp2 APN 2 58,667,898 (GRCm39) missense probably benign 0.03
IGL03072:Upp2 APN 2 58,645,435 (GRCm39) critical splice donor site probably null
R0815:Upp2 UTSW 2 58,661,568 (GRCm39) missense probably benign 0.00
R1164:Upp2 UTSW 2 58,653,716 (GRCm39) missense probably damaging 1.00
R1553:Upp2 UTSW 2 58,680,152 (GRCm39) missense probably damaging 1.00
R1581:Upp2 UTSW 2 58,664,177 (GRCm39) missense possibly damaging 0.93
R1674:Upp2 UTSW 2 58,680,076 (GRCm39) missense probably benign 0.43
R1702:Upp2 UTSW 2 58,661,562 (GRCm39) missense possibly damaging 0.86
R1902:Upp2 UTSW 2 58,661,464 (GRCm39) missense probably damaging 1.00
R2351:Upp2 UTSW 2 58,653,674 (GRCm39) splice site probably null
R3011:Upp2 UTSW 2 58,680,107 (GRCm39) missense probably damaging 0.97
R3622:Upp2 UTSW 2 58,680,128 (GRCm39) missense possibly damaging 0.83
R3623:Upp2 UTSW 2 58,680,128 (GRCm39) missense possibly damaging 0.83
R3731:Upp2 UTSW 2 58,645,379 (GRCm39) missense probably benign 0.02
R4257:Upp2 UTSW 2 58,670,106 (GRCm39) missense probably damaging 1.00
R4296:Upp2 UTSW 2 58,668,021 (GRCm39) missense probably damaging 1.00
R4768:Upp2 UTSW 2 58,667,907 (GRCm39) missense probably damaging 0.99
R5116:Upp2 UTSW 2 58,661,554 (GRCm39) missense probably damaging 1.00
R5638:Upp2 UTSW 2 58,680,107 (GRCm39) missense probably damaging 0.97
R7100:Upp2 UTSW 2 58,681,817 (GRCm39) missense probably benign
R7421:Upp2 UTSW 2 58,661,586 (GRCm39) missense possibly damaging 0.49
R7727:Upp2 UTSW 2 58,664,160 (GRCm39) missense possibly damaging 0.95
R7840:Upp2 UTSW 2 58,664,127 (GRCm39) critical splice acceptor site probably null
R8033:Upp2 UTSW 2 58,670,071 (GRCm39) missense probably damaging 1.00
R8359:Upp2 UTSW 2 58,667,955 (GRCm39) missense probably benign 0.05
R8461:Upp2 UTSW 2 58,670,068 (GRCm39) missense probably benign 0.02
R8510:Upp2 UTSW 2 58,670,118 (GRCm39) missense probably damaging 1.00
R8956:Upp2 UTSW 2 58,457,454 (GRCm39) unclassified probably benign
R9086:Upp2 UTSW 2 58,680,177 (GRCm39) nonsense probably null
R9099:Upp2 UTSW 2 58,457,542 (GRCm39) critical splice donor site probably null
R9130:Upp2 UTSW 2 58,668,020 (GRCm39) missense probably damaging 1.00
R9159:Upp2 UTSW 2 58,667,996 (GRCm39) missense probably damaging 1.00
R9209:Upp2 UTSW 2 58,668,022 (GRCm39) nonsense probably null
R9215:Upp2 UTSW 2 58,670,065 (GRCm39) missense probably damaging 1.00
R9293:Upp2 UTSW 2 58,457,443 (GRCm39) missense unknown
R9343:Upp2 UTSW 2 58,645,339 (GRCm39) start gained probably benign
Z1177:Upp2 UTSW 2 58,670,074 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCGATTGCGTCTACATTACAGGG -3'
(R):5'- CTGCTTCAGCAAGCAACTGGTAAC -3'

Sequencing Primer
(F):5'- TAGAATAGATCAGCGCACTCCC -3'
(R):5'- GCTGCATGTGAAACTCCAAATG -3'
Posted On 2014-03-14