Incidental Mutation 'R0265:Upf2'
ID 34825
Institutional Source Beutler Lab
Gene Symbol Upf2
Ensembl Gene ENSMUSG00000043241
Gene Name UPF2 regulator of nonsense transcripts homolog (yeast)
Synonyms
MMRRC Submission 038491-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0265 (G1)
Quality Score 163
Status Validated
Chromosome 2
Chromosomal Location 5956280-6061514 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 6032015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000060092]
AlphaFold A2AT37
Predicted Effect probably benign
Transcript: ENSMUST00000060092
SMART Domains Protein: ENSMUSP00000058375
Gene: ENSMUSG00000043241

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
MIF4G 27 240 3.43e-50 SMART
low complexity region 279 298 N/A INTRINSIC
Pfam:Upf2 304 469 3.1e-44 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.6%
  • 20x: 92.0%
Validation Efficiency 99% (83/84)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,822,850 (GRCm39) I321V probably benign Het
Adcy7 A G 8: 89,051,391 (GRCm39) D837G probably damaging Het
Aldh1a1 T A 19: 20,617,440 (GRCm39) Y457* probably null Het
Alox5 T C 6: 116,397,323 (GRCm39) Y287C probably benign Het
Ano8 T C 8: 71,933,168 (GRCm39) probably benign Het
Ap3b1 A G 13: 94,630,189 (GRCm39) K815E unknown Het
Atp11a A T 8: 12,906,930 (GRCm39) probably benign Het
Atp6v0a1 A T 11: 100,939,341 (GRCm39) D702V possibly damaging Het
Cacna1b T A 2: 24,651,856 (GRCm39) N108Y probably damaging Het
Ccdc57 G C 11: 120,812,637 (GRCm39) A39G probably benign Het
Cdhr1 A T 14: 36,803,333 (GRCm39) V581D probably benign Het
Cfap20dc T G 14: 8,431,667 (GRCm38) Y655S probably damaging Het
Cyp2b23 A G 7: 26,372,304 (GRCm39) probably benign Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Ddit4l C T 3: 137,330,048 (GRCm39) probably benign Het
Dnah8 A T 17: 30,909,245 (GRCm39) I1024F probably benign Het
Dync2i1 T C 12: 116,221,026 (GRCm39) probably benign Het
Edc3 T A 9: 57,634,621 (GRCm39) F213I probably damaging Het
Edrf1 G A 7: 133,258,774 (GRCm39) D717N probably damaging Het
Efna5 G A 17: 62,958,068 (GRCm39) P63S probably damaging Het
Elapor2 T C 5: 9,484,681 (GRCm39) L486P probably damaging Het
Entpd3 A G 9: 120,387,547 (GRCm39) Y248C probably damaging Het
Flcn G A 11: 59,686,635 (GRCm39) Q373* probably null Het
Fry T C 5: 150,358,241 (GRCm39) V1908A probably damaging Het
Gabrg3 A T 7: 57,031,365 (GRCm39) Y58* probably null Het
Gabrp A T 11: 33,502,614 (GRCm39) Y417N probably damaging Het
Golga2 C A 2: 32,194,964 (GRCm39) probably null Het
Grip2 C A 6: 91,750,773 (GRCm39) probably null Het
Gsx2 A G 5: 75,237,729 (GRCm39) Y227C probably damaging Het
H2ac1 T C 13: 24,118,632 (GRCm39) V63A probably benign Het
Hif3a T C 7: 16,769,793 (GRCm39) *665W probably null Het
Hsd3b1 C A 3: 98,760,089 (GRCm39) V301L probably damaging Het
Ifitm5 T C 7: 140,529,921 (GRCm39) probably benign Het
Inpp4a A T 1: 37,418,067 (GRCm39) D498V probably damaging Het
Itga1 A T 13: 115,128,995 (GRCm39) D554E probably benign Het
Itk G A 11: 46,280,285 (GRCm39) probably benign Het
Kdm3b T A 18: 34,928,716 (GRCm39) probably benign Het
Klhl6 A G 16: 19,766,984 (GRCm39) V470A probably benign Het
Lamb3 T A 1: 193,002,839 (GRCm39) W95R probably damaging Het
Lbhd2 T A 12: 111,376,676 (GRCm39) I41N probably damaging Het
Lrp4 A T 2: 91,321,015 (GRCm39) S1014C probably damaging Het
Ltbp2 C T 12: 84,832,743 (GRCm39) probably null Het
Map3k19 A G 1: 127,749,919 (GRCm39) I1144T possibly damaging Het
Mfsd10 T C 5: 34,792,507 (GRCm39) probably benign Het
Mocos A G 18: 24,799,333 (GRCm39) D189G probably benign Het
Mvb12a T A 8: 71,999,654 (GRCm39) F224L probably damaging Het
Myo15a A T 11: 60,405,723 (GRCm39) probably null Het
Nos2 A T 11: 78,828,428 (GRCm39) H249L probably damaging Het
Notum A G 11: 120,549,160 (GRCm39) M184T probably benign Het
Nvl C A 1: 180,962,395 (GRCm39) D192Y probably damaging Het
Or10j3 A G 1: 173,031,484 (GRCm39) K187R probably benign Het
Or4f57 T C 2: 111,790,839 (GRCm39) Y193C probably damaging Het
Or5ac22 A T 16: 59,135,434 (GRCm39) F112Y probably damaging Het
Or5m12 T A 2: 85,734,591 (GRCm39) N269I probably benign Het
Or8k27 C A 2: 86,276,303 (GRCm39) V8L probably benign Het
Osgin1 A G 8: 120,172,396 (GRCm39) I397V possibly damaging Het
Otulin A G 15: 27,616,510 (GRCm39) V123A probably damaging Het
P4ha1 A G 10: 59,184,081 (GRCm39) Y181C probably damaging Het
Pcdhgc5 A T 18: 37,954,403 (GRCm39) D559V probably damaging Het
Phf2 T C 13: 48,982,270 (GRCm39) N151S unknown Het
Plxnc1 C A 10: 94,648,991 (GRCm39) G1263C probably benign Het
Rad51ap1 A G 6: 126,901,160 (GRCm39) *338Q probably null Het
Raver1 A G 9: 20,986,955 (GRCm39) S676P probably benign Het
Rfx8 T C 1: 39,727,737 (GRCm39) E196G possibly damaging Het
Rreb1 A T 13: 38,100,131 (GRCm39) K187* probably null Het
Rxfp1 T C 3: 79,574,961 (GRCm39) T217A probably benign Het
Rxra T C 2: 27,642,442 (GRCm39) L305P probably damaging Het
Sardh T C 2: 27,117,078 (GRCm39) probably benign Het
Skor2 A T 18: 76,964,293 (GRCm39) E952D probably damaging Het
Slc22a29 A T 19: 8,147,334 (GRCm39) S343T probably benign Het
Sorbs2 T C 8: 46,238,374 (GRCm39) probably benign Het
Supt7l C T 5: 31,673,262 (GRCm39) V329I probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tac1 T C 6: 7,559,165 (GRCm39) probably benign Het
Tcn2 A T 11: 3,872,044 (GRCm39) V361D probably damaging Het
Tm2d3 G A 7: 65,347,582 (GRCm39) A170T possibly damaging Het
Tnks G A 8: 35,307,124 (GRCm39) R1142* probably null Het
Ttll7 C A 3: 146,649,915 (GRCm39) Y648* probably null Het
Umod G T 7: 119,065,296 (GRCm39) Q578K probably benign Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Washc5 A G 15: 59,210,809 (GRCm39) I1013T probably benign Het
Zfp704 C A 3: 9,630,217 (GRCm39) R48L probably 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
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
R8516:Upf2 UTSW 2 6,023,782 (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
(F):5'- GGTGGGCTGATAGGAAGACTTACATTG -3'
(R):5'- CCATCAGGGTTGACACCAAATGAAGTA -3'

Sequencing Primer
(F):5'- ACCATTTCTTAGAAAATGACAGGC -3'
(R):5'- ACTACTGATACGCCTCTGGT -3'
Posted On 2013-05-09