Incidental Mutation 'IGL02069:Upp2'
ID185763
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 #IGL02069
Quality Score
Status
Chromosome2
Chromosomal Location58567298-58792971 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 58771417 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 benign
Transcript: ENSMUST00000059102
SMART Domains Protein: ENSMUSP00000060437
Gene: ENSMUSG00000026839

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 benign
Transcript: ENSMUST00000102755
SMART Domains Protein: ENSMUSP00000099816
Gene: ENSMUSG00000026839

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 benign
Transcript: ENSMUST00000230627
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G A 7: 79,092,752 V569M possibly damaging Het
Alms1 T C 6: 85,628,823 V2016A probably benign Het
Apcdd1 T A 18: 62,949,983 W295R probably damaging Het
Arid5b T A 10: 68,097,399 D648V probably damaging Het
C2cd6 A G 1: 59,052,541 probably benign Het
Cst12 A T 2: 148,792,448 D101V probably damaging Het
Cyp46a1 T A 12: 108,346,135 Y135N probably benign Het
D630045J12Rik T C 6: 38,184,072 S1046G probably damaging Het
Dhtkd1 A T 2: 5,930,934 Y122* probably null Het
Disp2 T A 2: 118,790,680 I631N possibly damaging Het
Dna2 A G 10: 62,958,994 I387V probably benign Het
Dnah7a A T 1: 53,561,894 probably benign Het
Eif2ak3 T C 6: 70,896,965 F954S probably damaging Het
Fancm C A 12: 65,075,911 A69D probably benign Het
Fbxo34 T A 14: 47,529,613 D143E probably damaging Het
Fchsd1 G A 18: 37,967,614 R144* probably null Het
Fip1l1 A G 5: 74,591,873 D402G probably damaging Het
Frem1 A G 4: 82,903,551 S2107P probably damaging Het
Gm1527 A G 3: 28,926,614 N621S possibly damaging Het
Grasp A G 15: 101,224,465 Y55C probably damaging Het
Hddc2 G A 10: 31,316,318 D54N probably damaging Het
Ighm T A 12: 113,421,148 probably benign Het
Ikbkap C T 4: 56,779,731 G560D probably benign Het
Il17d G T 14: 57,542,515 E165* probably null Het
Kmt5b A T 19: 3,807,335 K364M probably damaging Het
Ldb1 C A 19: 46,033,178 W390L possibly damaging Het
Lgmn T C 12: 102,404,299 E124G possibly damaging Het
Mroh2b A G 15: 4,904,324 probably benign Het
Pga5 C T 19: 10,669,399 G323S possibly damaging Het
Pkd1l3 A T 8: 109,635,380 N1018I probably damaging Het
Polr2b A G 5: 77,343,197 T962A probably benign Het
Ptger1 A G 8: 83,669,457 E381G probably benign Het
Sec24a A T 11: 51,733,934 probably benign Het
Serpine2 T A 1: 79,821,412 I42F possibly damaging Het
Sh3tc1 C T 5: 35,718,995 R122Q probably benign Het
Slc15a2 T C 16: 36,759,251 I347V probably benign Het
Snx4 T C 16: 33,264,355 Y80H probably damaging Het
Spata16 C A 3: 26,732,795 C207* probably null Het
Syne2 A G 12: 75,927,412 Q1128R probably benign Het
Trpm4 T A 7: 45,319,294 N405I probably damaging 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
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 On2014-05-07