Incidental Mutation 'R6370:Upf2'
ID 513451
Institutional Source Beutler Lab
Gene Symbol Upf2
Ensembl Gene ENSMUSG00000043241
Gene Name UPF2 regulator of nonsense transcripts homolog (yeast)
Synonyms
MMRRC Submission 044520-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6370 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 5956280-6061514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5980821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 469 (N469S)
Ref Sequence ENSEMBL: ENSMUSP00000058375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060092]
AlphaFold A2AT37
Predicted Effect unknown
Transcript: ENSMUST00000060092
AA Change: N469S
SMART Domains Protein: ENSMUSP00000058375
Gene: ENSMUSG00000043241
AA Change: N469S

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
Meta Mutation Damage Score 0.0629 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 95% (54/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb6 A G 2: 30,717,024 (GRCm39) V67A probably damaging Het
Atic T A 1: 71,617,819 (GRCm39) F590I probably damaging Het
Atxn10 T C 15: 85,277,586 (GRCm39) F351S probably damaging Het
Bcl2l13 A G 6: 120,842,583 (GRCm39) N92S probably benign Het
Carm1 G T 9: 21,498,815 (GRCm39) A518S probably benign Het
Ccar1 C T 10: 62,600,308 (GRCm39) R541H probably damaging Het
Cfhr2 A T 1: 139,750,065 (GRCm39) L96Q probably damaging Het
Chrnb4 A G 9: 54,942,143 (GRCm39) L377S probably benign Het
Clcn3 A G 8: 61,376,058 (GRCm39) Y639H probably damaging Het
Cngb1 C T 8: 95,991,050 (GRCm39) M717I probably benign Het
Ctcf T C 8: 106,390,852 (GRCm39) M153T probably benign Het
Cyp2b19 T C 7: 26,462,783 (GRCm39) S222P probably benign Het
Dixdc1 A T 9: 50,593,523 (GRCm39) probably null Het
Entpd2 G A 2: 25,287,429 (GRCm39) G47S probably damaging Het
Erbb3 A G 10: 128,405,943 (GRCm39) M1158T possibly damaging Het
Faah T C 4: 115,860,253 (GRCm39) D333G probably damaging Het
Foxred2 T A 15: 77,827,506 (GRCm39) T618S probably benign Het
Gm2381 G A 7: 42,470,010 (GRCm39) A38V probably benign Het
Gpx5 A T 13: 21,472,872 (GRCm39) probably null Het
Gtdc1 A G 2: 44,646,334 (GRCm39) V98A probably damaging Het
Hal T C 10: 93,333,368 (GRCm39) I312T probably damaging Het
Krtap21-1 T C 16: 89,200,519 (GRCm39) Y41C unknown Het
Larp6 A G 9: 60,644,646 (GRCm39) E262G probably damaging Het
Lrrn1 A G 6: 107,546,185 (GRCm39) Y661C probably damaging Het
Lsm14a A G 7: 34,056,906 (GRCm39) V244A probably benign Het
Mfrp T C 9: 44,017,558 (GRCm39) C517R probably damaging Het
Mtarc1 T C 1: 184,527,689 (GRCm39) D257G probably damaging Het
Ncoa3 T C 2: 165,907,825 (GRCm39) S1145P probably benign Het
Nosip G T 7: 44,726,164 (GRCm39) probably null Het
Or4c100 T A 2: 88,329,712 (GRCm39) C94* probably null Het
Or51f2 A T 7: 102,526,377 (GRCm39) T17S probably benign Het
Or52n1 T C 7: 104,383,124 (GRCm39) K149R probably benign Het
Phykpl T C 11: 51,477,543 (GRCm39) S112P probably damaging Het
Pik3cb A T 9: 98,922,987 (GRCm39) I1015K probably damaging Het
Pomt2 A G 12: 87,155,973 (GRCm39) W818R probably damaging Het
Ptpn21 A T 12: 98,655,293 (GRCm39) M558K possibly damaging Het
Rnf213 T A 11: 119,367,904 (GRCm39) N4647K probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Homo
Rxrg T C 1: 167,462,006 (GRCm39) V227A probably damaging Het
Satb1 A T 17: 52,089,825 (GRCm39) S341T possibly damaging Het
Skint5 T G 4: 113,471,307 (GRCm39) Q983P unknown Het
Slc6a18 G A 13: 73,816,278 (GRCm39) T367I probably benign Het
Slc7a1 A G 5: 148,277,483 (GRCm39) L344P probably damaging Het
Slc7a6 T A 8: 106,922,069 (GRCm39) F399I probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Sugt1 T C 14: 79,847,774 (GRCm39) V208A probably benign Het
Syt3 A G 7: 44,045,107 (GRCm39) K480E probably damaging Het
Thop1 C T 10: 80,913,817 (GRCm39) T186I probably benign Het
Trim55 G A 3: 19,745,650 (GRCm39) E509K possibly damaging Het
Usp24 G T 4: 106,237,718 (GRCm39) K1125N probably null Het
Usp5 A T 6: 124,797,391 (GRCm39) D494E probably benign Het
Vmn2r51 T C 7: 9,832,143 (GRCm39) K481R probably damaging Het
Vps16 C A 2: 130,285,304 (GRCm39) A787D probably damaging Het
Washc4 C T 10: 83,407,226 (GRCm39) H488Y possibly damaging Het
Wdfy4 C A 14: 32,790,807 (GRCm39) A2053S probably benign Het
Zfp74 A T 7: 29,631,835 (GRCm39) D136E 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
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
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'- CATGGAGATGTATTGGCTACAAGC -3'
(R):5'- TGAGAACTGATCTTTGCAAGGTG -3'

Sequencing Primer
(F):5'- GCTTGAAAATGAAAAGTGTTACCTCC -3'
(R):5'- TGACAACCAAGTTTGATCCCTGG -3'
Posted On 2018-04-27