Incidental Mutation 'IGL03072:Upp2'
ID417563
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 #IGL03072
Quality Score
Status
Chromosome2
Chromosomal Location58567298-58792971 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 58755423 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059102] [ENSMUST00000071543] [ENSMUST00000102755] [ENSMUST00000229923] [ENSMUST00000230627]
Predicted Effect probably null
Transcript: ENSMUST00000059102
SMART Domains Protein: ENSMUSP00000060437
Gene: ENSMUSG00000026839

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 78 328 6.4e-28 PFAM
Predicted Effect probably null
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 null
Transcript: ENSMUST00000102755
SMART Domains Protein: ENSMUSP00000099816
Gene: ENSMUSG00000026839

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 60 310 4.2e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000229923
Predicted Effect probably null
Transcript: ENSMUST00000230627
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik G A 13: 77,259,997 V148I probably benign Het
Ahcyl2 T C 6: 29,906,501 probably benign Het
Ahnak T C 19: 9,006,508 S1719P probably benign Het
C2cd5 A G 6: 143,079,883 I196T possibly damaging Het
Cdhr2 A G 13: 54,726,661 I849V probably benign Het
Cpsf3 A G 12: 21,295,088 K134E possibly damaging Het
Dnaic1 A G 4: 41,602,979 T161A probably benign Het
Gm17093 G T 14: 44,520,672 probably benign Het
Igf2bp2 A G 16: 22,068,141 probably null Het
Lcor T C 19: 41,558,814 V279A possibly damaging Het
Myo9a C A 9: 59,809,442 T475K possibly damaging Het
Nat8f4 A G 6: 85,900,854 probably benign Het
Neto1 A G 18: 86,498,589 T344A probably benign Het
Olfr1048 A T 2: 86,236,460 M118K probably damaging Het
Olfr371 A G 8: 85,230,510 N5S probably benign Het
Olfr772 A T 10: 129,174,489 D177E probably damaging Het
Pde8a A T 7: 81,308,809 I312F probably damaging Het
Ppp3cb A G 14: 20,531,725 I74T probably damaging Het
Prom1 T C 5: 44,058,662 probably benign Het
Psg29 T C 7: 17,208,794 V240A probably benign Het
Reep4 T C 14: 70,548,235 S238P probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tmprss5 T A 9: 49,109,018 N99K possibly damaging Het
Tph1 G A 7: 46,652,859 T313M probably damaging Het
Tprn T C 2: 25,264,518 S611P probably damaging Het
Vezt C A 10: 93,974,033 A549S probably damaging Het
Zfp786 A G 6: 47,821,243 Y254H probably benign Het
Other mutations in Upp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Upp2 APN 2 58790064 missense probably benign 0.43
IGL01716:Upp2 APN 2 58790046 missense probably damaging 0.99
IGL02069:Upp2 APN 2 58771417 splice site probably benign
IGL02349:Upp2 APN 2 58777886 missense probably benign 0.03
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 On2016-08-02