Incidental Mutation 'IGL01716:Upp2'
ID104938
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Upp2
Ensembl Gene ENSMUSG00000026839
Gene Nameuridine phosphorylase 2
SynonymsUDRPASE2, UP2, UPASE2, 1700124F02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.124) question?
Stock #IGL01716
Quality Score
Status
Chromosome2
Chromosomal Location58567298-58792971 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 58790046 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 295 (T295P)
Ref Sequence ENSEMBL: ENSMUSP00000060437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059102] [ENSMUST00000071543] [ENSMUST00000102755] [ENSMUST00000229923] [ENSMUST00000230627]
Predicted Effect probably damaging
Transcript: ENSMUST00000059102
AA Change: T295P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000060437
Gene: ENSMUSG00000026839
AA Change: T295P

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: T277P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099816
Gene: ENSMUSG00000026839
AA Change: T277P

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: T243P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,628,094 R1773Q probably benign Het
Apba2 T C 7: 64,745,826 probably benign Het
Asap2 A G 12: 21,254,306 D741G possibly damaging Het
Cfap65 T C 1: 74,927,194 T325A probably benign Het
Cyp2b23 A T 7: 26,679,490 V183E probably damaging Het
Cyp4f14 T A 17: 32,905,496 probably benign Het
Dip2b A G 15: 100,209,636 T1176A probably benign Het
Dnah1 A G 14: 31,263,378 I3852T probably benign Het
E430018J23Rik A G 7: 127,392,036 S260P possibly damaging Het
Exoc6 T A 19: 37,682,964 S801T probably damaging Het
Fancd2os T C 6: 113,597,654 I130M probably damaging Het
Flywch1 A G 17: 23,763,026 V68A probably benign Het
Kif24 T C 4: 41,393,454 T1140A probably benign Het
Limk2 C T 11: 3,358,990 probably null Het
Mag C T 7: 30,900,387 V576I probably benign Het
Mei4 C T 9: 81,890,182 A16V probably damaging Het
Ncoa7 A G 10: 30,662,334 I685T probably damaging Het
Nfxl1 A T 5: 72,540,934 V256E probably damaging Het
Olfr1015 A T 2: 85,786,143 I211F probably damaging Het
Olfr352 T A 2: 36,869,667 F34I probably benign Het
Olfr403 C T 11: 74,196,381 R293W probably benign Het
Pcdhb2 T C 18: 37,296,738 V588A probably damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Pcdhb9 T A 18: 37,403,175 S741T probably damaging Het
Plekha4 C A 7: 45,534,343 S66R probably damaging Het
Prex2 A G 1: 11,266,054 N1492S probably benign Het
Rbfox3 T C 11: 118,513,289 H28R possibly damaging Het
Reep2 C T 18: 34,846,249 T209I probably benign Het
Rptn A G 3: 93,396,710 H450R possibly damaging Het
Spock3 A G 8: 63,355,350 D427G unknown Het
Tnfrsf1b C T 4: 145,215,923 C430Y probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Tubgcp3 T C 8: 12,641,094 probably benign Het
Xpo7 A G 14: 70,685,555 V528A probably damaging Het
Zc3h7a A G 16: 11,145,716 C714R probably damaging Het
Zpbp A T 11: 11,404,052 S295T probably benign Het
Other mutations in Upp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Upp2 APN 2 58790064 missense probably benign 0.43
IGL02069:Upp2 APN 2 58771417 splice site probably benign
IGL02349:Upp2 APN 2 58777886 missense probably benign 0.03
IGL03072:Upp2 APN 2 58755423 critical splice donor site probably null
R0815:Upp2 UTSW 2 58771556 missense probably benign 0.00
R1164:Upp2 UTSW 2 58763704 missense probably damaging 1.00
R1400:Upp2 UTSW 2 58790106 missense probably damaging 1.00
R1553:Upp2 UTSW 2 58790140 missense probably damaging 1.00
R1581:Upp2 UTSW 2 58774165 missense possibly damaging 0.93
R1674:Upp2 UTSW 2 58790064 missense probably benign 0.43
R1702:Upp2 UTSW 2 58771550 missense possibly damaging 0.86
R1902:Upp2 UTSW 2 58771452 missense probably damaging 1.00
R2351:Upp2 UTSW 2 58763662 splice site probably null
R3011:Upp2 UTSW 2 58790095 missense probably damaging 0.97
R3622:Upp2 UTSW 2 58790116 missense possibly damaging 0.83
R3623:Upp2 UTSW 2 58790116 missense possibly damaging 0.83
R3731:Upp2 UTSW 2 58755367 missense probably benign 0.02
R4257:Upp2 UTSW 2 58780094 missense probably damaging 1.00
R4296:Upp2 UTSW 2 58778009 missense probably damaging 1.00
R4768:Upp2 UTSW 2 58777895 missense probably damaging 0.99
R5116:Upp2 UTSW 2 58771542 missense probably damaging 1.00
R5638:Upp2 UTSW 2 58790095 missense probably damaging 0.97
R7100:Upp2 UTSW 2 58791805 missense probably benign
R7421:Upp2 UTSW 2 58771574 missense possibly damaging 0.49
R7727:Upp2 UTSW 2 58774148 missense possibly damaging 0.95
R7840:Upp2 UTSW 2 58774115 critical splice acceptor site probably null
R8033:Upp2 UTSW 2 58780059 missense probably damaging 1.00
R8359:Upp2 UTSW 2 58777943 missense probably benign 0.05
R8461:Upp2 UTSW 2 58780056 missense probably benign 0.02
R8510:Upp2 UTSW 2 58780106 missense probably damaging 1.00
Z1177:Upp2 UTSW 2 58780062 missense probably damaging 1.00
Posted On2014-01-21