Incidental Mutation 'R0815:Upp2'
ID 78555
Institutional Source Beutler Lab
Gene Symbol Upp2
Ensembl Gene ENSMUSG00000026839
Gene Name uridine phosphorylase 2
Synonyms UPASE2, UP2, UDRPASE2, 1700124F02Rik
MMRRC Submission 038995-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R0815 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 58457310-58682983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58661568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 144 (T144A)
Ref Sequence ENSEMBL: ENSMUSP00000071474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059102] [ENSMUST00000071543] [ENSMUST00000102755] [ENSMUST00000229923] [ENSMUST00000230627]
AlphaFold Q8CGR7
Predicted Effect probably benign
Transcript: ENSMUST00000059102
AA Change: T124A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000060437
Gene: ENSMUSG00000026839
AA Change: T124A

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 78 328 6.4e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071543
AA Change: T144A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000071474
Gene: ENSMUSG00000026839
AA Change: T144A

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
AA Change: T106A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099816
Gene: ENSMUSG00000026839
AA Change: T106A

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 60 310 4.2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128864
Predicted Effect probably benign
Transcript: ENSMUST00000229923
AA Change: T106A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000230627
AA Change: T72A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0926 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.5%
  • 20x: 91.3%
Validation Efficiency 97% (58/60)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,865,184 (GRCm39) probably benign Het
Abcf2 A T 5: 24,772,268 (GRCm39) Y487N probably damaging Het
Adcy4 T C 14: 56,021,056 (GRCm39) Y27C probably damaging Het
Atp2a2 T C 5: 122,609,299 (GRCm39) I188V probably benign Het
Cacna1s A T 1: 136,040,695 (GRCm39) I1231F possibly damaging Het
Capn7 T A 14: 31,091,714 (GRCm39) C704S possibly damaging Het
Celsr2 G T 3: 108,308,617 (GRCm39) T1770K possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cul9 T C 17: 46,848,748 (GRCm39) probably null Het
Dpp10 A G 1: 123,360,658 (GRCm39) probably null Het
Dscaml1 A G 9: 45,656,372 (GRCm39) I1571V probably benign Het
Eif3j2 T A 18: 43,610,036 (GRCm39) Y259F probably benign Het
Erc2 A C 14: 27,747,105 (GRCm39) N345T probably benign Het
Fbxo21 T C 5: 118,133,573 (GRCm39) probably benign Het
Frmd8 A T 19: 5,915,084 (GRCm39) probably benign Het
Gfm1 T C 3: 67,381,928 (GRCm39) S705P probably damaging Het
Gucy1b2 T C 14: 62,656,511 (GRCm39) D282G probably benign Het
H2-Ab1 T C 17: 34,486,328 (GRCm39) I129T probably damaging Het
H2-M10.3 T A 17: 36,677,582 (GRCm39) Y232F probably damaging Het
Lipm A T 19: 34,096,161 (GRCm39) T326S probably benign Het
Lrrc8c T C 5: 105,756,400 (GRCm39) L725P probably damaging Het
Map3k19 A G 1: 127,762,375 (GRCm39) probably benign Het
Med31 T A 11: 72,104,657 (GRCm39) N50I probably damaging Het
Myo15b T G 11: 115,757,162 (GRCm39) probably benign Het
Nemp1 T C 10: 127,528,893 (GRCm39) L199S probably damaging Het
Nod2 G A 8: 89,399,290 (GRCm39) probably benign Het
Oga C T 19: 45,771,425 (GRCm39) A49T probably benign Het
Or2ak6 A G 11: 58,593,435 (GRCm39) R303G possibly damaging Het
Or5b21 A G 19: 12,840,008 (GRCm39) I290V probably benign Het
Parva G A 7: 112,167,071 (GRCm39) V215M probably damaging Het
Phf1 T C 17: 27,156,114 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,233,140 (GRCm39) I88L possibly damaging Het
Ppp1r12c G T 7: 4,489,365 (GRCm39) Q240K probably damaging Het
Ralgapa1 A T 12: 55,809,466 (GRCm39) Y436* probably null Het
Ralgapa1 C A 12: 55,829,562 (GRCm39) probably benign Het
Rbm11 C T 16: 75,393,525 (GRCm39) R74C probably damaging Het
Robo3 A G 9: 37,333,479 (GRCm39) V744A probably damaging Het
Rsbn1 T G 3: 103,861,469 (GRCm39) S522A probably damaging Het
Scel T A 14: 103,823,916 (GRCm39) S381R possibly damaging Het
Sec31b G A 19: 44,506,612 (GRCm39) Q909* probably null Het
Slc38a11 T A 2: 65,184,124 (GRCm39) I176L possibly damaging Het
Slc39a4 C T 15: 76,496,839 (GRCm39) D574N probably damaging Het
Slc44a1 T G 4: 53,536,421 (GRCm39) V199G possibly damaging Het
Sltm A G 9: 70,469,190 (GRCm39) T150A probably benign Het
Son C A 16: 91,452,372 (GRCm39) A373D probably damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Speg A G 1: 75,392,036 (GRCm39) Y1606C probably damaging Het
Srgap1 A T 10: 121,621,379 (GRCm39) V1061D probably damaging Het
Stat5a A G 11: 100,765,908 (GRCm39) probably null Het
Supt4a T A 11: 87,628,409 (GRCm39) probably benign Het
Teddm1b A G 1: 153,750,638 (GRCm39) K149R possibly damaging Het
Thnsl2 A T 6: 71,111,208 (GRCm39) L220* probably null Het
Tinf2 G A 14: 55,917,566 (GRCm39) P308S probably benign Het
Tmem131l A G 3: 83,847,879 (GRCm39) S329P probably benign Het
Tnf T C 17: 35,420,120 (GRCm39) probably benign Het
Vmn2r94 T G 17: 18,477,973 (GRCm39) Q146P probably damaging Het
Zfhx4 T A 3: 5,310,375 (GRCm39) S919R 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
R1164:Upp2 UTSW 2 58,653,716 (GRCm39) missense probably damaging 1.00
R1400:Upp2 UTSW 2 58,680,118 (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'- ACGTACATTCCACATCCTTAGCACG -3'
(R):5'- GATGAGCCTTGAAGACTTCTGCCC -3'

Sequencing Primer
(F):5'- TCATATCCGTGAAGATGCCG -3'
(R):5'- GCCCTTACCTAACAGTTAAGTAGTG -3'
Posted On 2013-10-16