Incidental Mutation 'R9209:Upp2'
ID 698681
Institutional Source Beutler Lab
Gene Symbol Upp2
Ensembl Gene ENSMUSG00000026839
Gene Name uridine phosphorylase 2
Synonyms UPASE2, UP2, UDRPASE2, 1700124F02Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R9209 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 58457310-58682983 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 58668022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 238 (Y238*)
Ref Sequence ENSEMBL: ENSMUSP00000060437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059102] [ENSMUST00000071543] [ENSMUST00000102755] [ENSMUST00000229923] [ENSMUST00000230627]
AlphaFold Q8CGR7
Predicted Effect probably null
Transcript: ENSMUST00000059102
AA Change: Y238*
SMART Domains Protein: ENSMUSP00000060437
Gene: ENSMUSG00000026839
AA Change: Y238*

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 78 328 6.4e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000071543
AA Change: Y258*
SMART Domains Protein: ENSMUSP00000071474
Gene: ENSMUSG00000026839
AA Change: Y258*

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
AA Change: Y220*
SMART Domains Protein: ENSMUSP00000099816
Gene: ENSMUSG00000026839
AA Change: Y220*

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 60 310 4.2e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000229923
AA Change: Y220*
Predicted Effect probably null
Transcript: ENSMUST00000230627
AA Change: Y186*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 96% (73/76)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,837 (GRCm39) N513K possibly damaging Het
Actl6a T A 3: 32,779,469 (GRCm39) I399N probably damaging Het
Adamts5 A G 16: 85,666,971 (GRCm39) V507A probably damaging Het
Ap3d1 A G 10: 80,554,918 (GRCm39) V469A probably benign Het
Arhgef4 G T 1: 34,764,241 (GRCm39) probably null Het
Arhgef4 A T 1: 34,849,576 (GRCm39) Q389L probably benign Het
Atad2 A G 15: 57,980,194 (GRCm39) V106A possibly damaging Het
Azin2 T C 4: 128,841,341 (GRCm39) E275G probably damaging Het
Bhlhe23 A G 2: 180,418,143 (GRCm39) S132P probably damaging Het
Capn12 A G 7: 28,581,243 (GRCm39) Y32C probably damaging Het
Celsr2 A T 3: 108,321,349 (GRCm39) S488T probably benign Het
Cenpx A G 11: 120,602,582 (GRCm39) V27A possibly damaging Het
Clca3a2 G A 3: 144,778,005 (GRCm39) P760L probably benign Het
Clstn3 T C 6: 124,408,571 (GRCm39) S951G probably benign Het
Clybl C A 14: 122,621,670 (GRCm39) P286Q probably benign Het
Cmya5 T A 13: 93,226,866 (GRCm39) M2741L probably benign Het
Cntnap2 G A 6: 47,026,183 (GRCm39) G944E probably damaging Het
Col8a1 A C 16: 57,447,283 (GRCm39) Y742* probably null Het
Crb1 T C 1: 139,171,051 (GRCm39) K780E probably damaging Het
Crygc T A 1: 65,112,376 (GRCm39) Y66F probably benign Het
Cyp2b9 G A 7: 25,873,004 (GRCm39) G49E possibly damaging Het
D130043K22Rik T C 13: 25,041,090 (GRCm39) S171P possibly damaging Het
Dhx36 T C 3: 62,378,895 (GRCm39) I890V probably benign Het
Dpp9 C T 17: 56,512,765 (GRCm39) G148S probably damaging Het
Eml6 G T 11: 29,781,175 (GRCm39) S619Y probably damaging Het
Enpp4 A T 17: 44,412,252 (GRCm39) L319* probably null Het
Esyt1 T C 10: 128,361,356 (GRCm39) S113G probably benign Het
Fat1 A G 8: 45,404,791 (GRCm39) D514G possibly damaging Het
Fbxo16 G A 14: 65,524,594 (GRCm39) R38Q probably damaging Het
Fchsd1 A T 18: 38,092,706 (GRCm39) M668K unknown Het
Gpr149 C T 3: 62,511,093 (GRCm39) S302N probably benign Het
Gsap A G 5: 21,433,064 (GRCm39) K258E probably benign Het
Helq C A 5: 100,939,218 (GRCm39) V443F probably benign Het
Helq T A 5: 100,939,219 (GRCm39) K442N probably damaging Het
Ighv1-37 T C 12: 114,860,123 (GRCm39) E29G possibly damaging Het
Ighv1-9 C A 12: 114,547,620 (GRCm39) M1I probably null Het
Itga6 T G 2: 71,671,477 (GRCm39) F743V probably benign Het
Lpin1 C A 12: 16,588,548 (GRCm39) D881Y Het
Lypd8 T A 11: 58,273,640 (GRCm39) C40S possibly damaging Het
Macf1 C T 4: 123,326,227 (GRCm39) R5092Q probably damaging Het
Mcm7 A G 5: 138,166,593 (GRCm39) probably null Het
Micall2 G A 5: 139,696,170 (GRCm39) T831I unknown Het
Myo18b A T 5: 113,022,927 (GRCm39) M155K unknown Het
Nckap5 T A 1: 125,867,928 (GRCm39) H201L unknown Het
Ndst2 A T 14: 20,779,240 (GRCm39) D333E possibly damaging Het
Nlgn1 A G 3: 25,966,804 (GRCm39) probably null Het
Nup188 T G 2: 30,232,397 (GRCm39) Y1483D probably benign Het
Or4c109 A C 2: 88,818,057 (GRCm39) L163* probably null Het
Or52ae9 T A 7: 103,390,319 (GRCm39) S43C probably benign Het
Or52n4b A C 7: 108,144,664 (GRCm39) I311L probably benign Het
Or5p66 T A 7: 107,885,526 (GRCm39) Y269F probably benign Het
Or8g33 T A 9: 39,337,635 (GRCm39) H244L probably damaging Het
Peg3 A C 7: 6,711,226 (GRCm39) I1332S possibly damaging Het
Piezo2 T C 18: 63,154,372 (GRCm39) K2469R probably damaging Het
Pik3cg T C 12: 32,247,312 (GRCm39) M804V probably damaging Het
Polq A T 16: 36,869,011 (GRCm39) I794F possibly damaging Het
Rasgef1b A G 5: 99,370,191 (GRCm39) V437A probably benign Het
Rdm1 T A 11: 101,518,857 (GRCm39) D21E probably benign Het
Ripk4 G T 16: 97,551,311 (GRCm39) Q219K possibly damaging Het
Ropn1l T C 15: 31,441,471 (GRCm39) I217V Het
Sdf2 T C 11: 78,136,858 (GRCm39) S13P unknown Het
Selenbp1 A G 3: 94,847,079 (GRCm39) T202A probably benign Het
Slfn5 T C 11: 82,850,933 (GRCm39) F410S possibly damaging Het
Srrm2 A G 17: 24,039,880 (GRCm39) T2175A probably benign Het
St6galnac3 T C 3: 153,117,360 (GRCm39) Y121C possibly damaging Het
Stat1 A G 1: 52,184,337 (GRCm39) N417S probably benign Het
Tead1 T C 7: 112,475,378 (GRCm39) F276L probably damaging Het
Teddm3 A T 16: 20,971,737 (GRCm39) S277R probably benign Het
Tmc2 A G 2: 130,103,317 (GRCm39) probably null Het
Tmem156 G A 5: 65,231,127 (GRCm39) L248F probably damaging Het
Tnn T C 1: 159,953,986 (GRCm39) S590G probably benign Het
Trmt44 A G 5: 35,731,422 (GRCm39) probably null Het
Usp32 T C 11: 84,930,838 (GRCm39) T531A probably damaging Het
Vmn2r78 A T 7: 86,569,431 (GRCm39) D108V probably benign Het
Wdfy3 G T 5: 102,078,830 (GRCm39) A824E probably benign Het
Xylt1 T C 7: 117,255,870 (GRCm39) V814A probably benign Het
Zfy1 C T Y: 732,990 (GRCm39) R281H unknown 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
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
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'- ACCAGGCTCCGTTGTAATAAC -3'
(R):5'- AAGTCACTCTGCATGTTTCTCAG -3'

Sequencing Primer
(F):5'- GGCTCCGTTGTAATAACAGATACAGC -3'
(R):5'- GCATGTTTCTCAGCTGCTTATTAAG -3'
Posted On 2022-02-07