Incidental Mutation 'R8516:Upf2'
ID 656123
Institutional Source Beutler Lab
Gene Symbol Upf2
Ensembl Gene ENSMUSG00000043241
Gene Name UPF2 regulator of nonsense transcripts homolog (yeast)
MMRRC Submission 067848-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8516 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 5956280-6061514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6023782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 711 (F711L)
Ref Sequence ENSEMBL: ENSMUSP00000058375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060092]
AlphaFold A2AT37
Predicted Effect unknown
Transcript: ENSMUST00000060092
AA Change: F711L
SMART Domains Protein: ENSMUSP00000058375
Gene: ENSMUSG00000043241
AA Change: F711L

low complexity region 12 23 N/A INTRINSIC
low complexity region 54 125 N/A INTRINSIC
MIF4G 167 363 1.22e-32 SMART
coiled coil region 514 543 N/A INTRINSIC
MIF4G 567 756 1.13e-50 SMART
MIF4G 771 984 3.43e-50 SMART
low complexity region 1023 1042 N/A INTRINSIC
Pfam:Upf2 1051 1215 1.5e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128200
SMART Domains Protein: ENSMUSP00000119348
Gene: ENSMUSG00000043241

MIF4G 27 240 3.43e-50 SMART
low complexity region 279 298 N/A INTRINSIC
Pfam:Upf2 304 469 3.1e-44 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located in the perinuclear area. It interacts with translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A T 9: 4,309,373 (GRCm39) S22T probably benign Het
Acte1 T A 7: 143,451,011 (GRCm39) I342N probably damaging Het
Actr8 G T 14: 29,712,856 (GRCm39) A500S probably benign Het
Adamtsl1 A G 4: 86,260,780 (GRCm39) Y1005C probably damaging Het
Ank3 T A 10: 69,763,559 (GRCm39) Y884* probably null Het
Arhgap28 T C 17: 68,180,068 (GRCm39) R306G probably benign Het
Atp8a2 A C 14: 59,928,921 (GRCm39) I1044M probably benign Het
Bahd1 A G 2: 118,747,452 (GRCm39) Y357C probably benign Het
Btd A T 14: 31,388,824 (GRCm39) T182S probably damaging Het
Casc3 C T 11: 98,713,607 (GRCm39) R280C probably damaging Het
Cisd2 T C 3: 135,116,774 (GRCm39) T106A probably damaging Het
Cldn15 G T 5: 137,003,550 (GRCm39) C184F probably damaging Het
Clk4 G A 11: 51,166,088 (GRCm39) R198Q probably damaging Het
Coprs G T 8: 13,935,065 (GRCm39) F163L probably damaging Het
Csmd3 G A 15: 47,492,761 (GRCm39) R2216* probably null Het
Defb7 A T 8: 19,547,623 (GRCm39) I43F possibly damaging Het
Dpp8 C A 9: 64,985,291 (GRCm39) T783K probably damaging Het
Eif2s1 G A 12: 78,927,936 (GRCm39) G204D probably damaging Het
Elavl4 T C 4: 110,108,576 (GRCm39) N56S probably damaging Het
Emilin1 G A 5: 31,074,515 (GRCm39) R252H probably damaging Het
Exd1 A T 2: 119,350,554 (GRCm39) L569Q probably damaging Het
Gpn2 C T 4: 133,312,142 (GRCm39) R125C probably damaging Het
Gria2 T C 3: 80,614,294 (GRCm39) E582G probably benign Het
Hadha A T 5: 30,331,582 (GRCm39) V458E probably damaging Het
Hap1 T C 11: 100,246,893 (GRCm39) K4R possibly damaging Het
Hectd4 A T 5: 121,487,073 (GRCm39) H3356L possibly damaging Het
Herc2 G A 7: 55,856,318 (GRCm39) V3919I probably benign Het
Lgr6 G T 1: 135,003,021 (GRCm39) N76K probably damaging Het
Or52w1 A G 7: 105,017,976 (GRCm39) I148V probably benign Het
P4ha3 A G 7: 99,963,869 (GRCm39) M462V probably damaging Het
Pde3b A T 7: 114,126,084 (GRCm39) M773L probably benign Het
Peak1 T C 9: 56,167,284 (GRCm39) S215G probably damaging Het
Pgm5 T A 19: 24,793,074 (GRCm39) M331L probably benign Het
Piwil2 A G 14: 70,658,188 (GRCm39) V213A probably benign Het
Plch2 T C 4: 155,070,764 (GRCm39) H1205R probably benign Het
Pop4 A T 7: 37,966,826 (GRCm39) M85K probably benign Het
Ppp3ca T A 3: 136,583,529 (GRCm39) I212N probably damaging Het
Prom1 T C 5: 44,164,441 (GRCm39) K714R probably benign Het
Psip1 C T 4: 83,384,952 (GRCm39) G207S probably benign Het
Rgs22 A G 15: 36,010,481 (GRCm39) *1259Q probably null Het
Scn1a C T 2: 66,156,478 (GRCm39) G477D possibly damaging Het
Sf3b1 T C 1: 55,051,262 (GRCm39) E222G probably null Het
Snrpa1 G A 7: 65,720,381 (GRCm39) G195R probably benign Het
Spem2 T C 11: 69,707,721 (GRCm39) R415G possibly damaging Het
Tmem167 T A 13: 90,246,515 (GRCm39) V13E probably damaging Het
Trim2 C T 3: 84,115,627 (GRCm39) A102T probably damaging Het
Trim30b A G 7: 104,006,611 (GRCm39) S82P probably benign Het
Uba6 A C 5: 86,275,607 (GRCm39) S760R possibly damaging Het
Utrn T A 10: 12,362,254 (GRCm39) D2693V probably damaging Het
Vmn1r30 T G 6: 58,412,109 (GRCm39) Y241S probably damaging Het
Vmn2r110 A G 17: 20,794,875 (GRCm39) L598P probably damaging Het
Wfdc18 T A 11: 83,599,984 (GRCm39) F14Y probably benign Het
Wnt10b A T 15: 98,670,761 (GRCm39) C256S probably damaging Het
Xrn1 T A 9: 95,930,444 (GRCm39) Y1554* probably null Het
Zc3h12a T A 4: 125,013,632 (GRCm39) S411C probably damaging Het
Zfp112 G A 7: 23,823,389 (GRCm39) G63E probably benign Het
Zfp786 A T 6: 47,797,477 (GRCm39) L487Q probably damaging Het
Zfp953 T A 13: 67,493,419 (GRCm39) Y75F possibly damaging Het
Other mutations in Upf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Upf2 APN 2 5,966,111 (GRCm39) missense unknown
IGL01394:Upf2 APN 2 6,045,024 (GRCm39) splice site probably null
IGL01571:Upf2 APN 2 6,023,750 (GRCm39) unclassified probably benign
IGL01624:Upf2 APN 2 6,038,990 (GRCm39) missense probably benign
IGL02121:Upf2 APN 2 6,031,134 (GRCm39) splice site probably benign
IGL02485:Upf2 APN 2 6,032,102 (GRCm39) missense unknown
IGL02491:Upf2 APN 2 6,030,975 (GRCm39) missense unknown
Balderdash UTSW 2 5,978,347 (GRCm39) missense unknown
nonsense UTSW 2 6,051,845 (GRCm39) missense unknown
R0265:Upf2 UTSW 2 6,032,015 (GRCm39) splice site probably benign
R0390:Upf2 UTSW 2 6,023,705 (GRCm39) unclassified probably benign
R0480:Upf2 UTSW 2 5,962,445 (GRCm39) missense possibly damaging 0.71
R0513:Upf2 UTSW 2 5,962,478 (GRCm39) missense unknown
R0579:Upf2 UTSW 2 5,993,240 (GRCm39) missense unknown
R0612:Upf2 UTSW 2 6,038,909 (GRCm39) splice site probably benign
R0856:Upf2 UTSW 2 5,962,463 (GRCm39) missense unknown
R1103:Upf2 UTSW 2 6,030,986 (GRCm39) missense unknown
R1384:Upf2 UTSW 2 5,965,800 (GRCm39) missense unknown
R1672:Upf2 UTSW 2 6,044,908 (GRCm39) splice site probably null
R1728:Upf2 UTSW 2 6,032,261 (GRCm39) missense probably damaging 1.00
R1784:Upf2 UTSW 2 6,032,261 (GRCm39) missense probably damaging 1.00
R1836:Upf2 UTSW 2 6,055,135 (GRCm39) splice site probably null
R2252:Upf2 UTSW 2 5,966,271 (GRCm39) missense unknown
R2339:Upf2 UTSW 2 6,044,913 (GRCm39) splice site probably benign
R3015:Upf2 UTSW 2 5,980,890 (GRCm39) missense unknown
R3931:Upf2 UTSW 2 6,051,821 (GRCm39) missense unknown
R4151:Upf2 UTSW 2 5,966,516 (GRCm39) missense unknown
R4283:Upf2 UTSW 2 5,978,369 (GRCm39) missense unknown
R4558:Upf2 UTSW 2 5,978,404 (GRCm39) missense unknown
R4564:Upf2 UTSW 2 6,032,123 (GRCm39) missense unknown
R5630:Upf2 UTSW 2 6,032,112 (GRCm39) missense probably damaging 0.99
R6370:Upf2 UTSW 2 5,980,821 (GRCm39) missense unknown
R6418:Upf2 UTSW 2 6,032,150 (GRCm39) missense unknown
R6432:Upf2 UTSW 2 5,984,588 (GRCm39) missense unknown
R7184:Upf2 UTSW 2 6,028,131 (GRCm39) missense unknown
R7308:Upf2 UTSW 2 5,978,329 (GRCm39) missense unknown
R7371:Upf2 UTSW 2 5,965,851 (GRCm39) missense unknown
R7404:Upf2 UTSW 2 6,045,014 (GRCm39) missense unknown
R7439:Upf2 UTSW 2 6,023,743 (GRCm39) missense unknown
R7441:Upf2 UTSW 2 6,023,743 (GRCm39) missense unknown
R7461:Upf2 UTSW 2 5,978,347 (GRCm39) missense unknown
R7483:Upf2 UTSW 2 6,032,219 (GRCm39) missense unknown
R7613:Upf2 UTSW 2 5,978,347 (GRCm39) missense unknown
R7976:Upf2 UTSW 2 6,030,926 (GRCm39) missense unknown
R8044:Upf2 UTSW 2 6,034,249 (GRCm39) missense unknown
R8880:Upf2 UTSW 2 6,030,983 (GRCm39) missense unknown
R8911:Upf2 UTSW 2 5,987,893 (GRCm39) missense unknown
R9138:Upf2 UTSW 2 6,028,132 (GRCm39) missense unknown
R9226:Upf2 UTSW 2 6,051,845 (GRCm39) missense unknown
R9444:Upf2 UTSW 2 6,023,755 (GRCm39) missense unknown
R9484:Upf2 UTSW 2 5,966,078 (GRCm39) missense unknown
R9665:Upf2 UTSW 2 6,051,715 (GRCm39) missense unknown
R9691:Upf2 UTSW 2 6,032,024 (GRCm39) missense unknown
Z1176:Upf2 UTSW 2 6,028,199 (GRCm39) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-10-20