Incidental Mutation 'R7441:Upf2'
ID 576935
Institutional Source Beutler Lab
Gene Symbol Upf2
Ensembl Gene ENSMUSG00000043241
Gene Name UPF2 regulator of nonsense transcripts homolog (yeast)
Synonyms
MMRRC Submission 045517-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7441 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 5956280-6061514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6023743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 698 (I698F)
Ref Sequence ENSEMBL: ENSMUSP00000058375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060092]
AlphaFold A2AT37
Predicted Effect unknown
Transcript: ENSMUST00000060092
AA Change: I698F
SMART Domains Protein: ENSMUSP00000058375
Gene: ENSMUSG00000043241
AA Change: I698F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A C 2: 151,314,845 (GRCm39) S278A possibly damaging Het
Adamts20 T C 15: 94,251,554 (GRCm39) D411G probably damaging Het
Adgrl3 A G 5: 81,871,987 (GRCm39) I894V possibly damaging Het
Adprhl1 C T 8: 13,273,069 (GRCm39) V1230I probably benign Het
Agpat1 T A 17: 34,829,883 (GRCm39) Y77N probably damaging Het
Anpep A G 7: 79,477,392 (GRCm39) V725A possibly damaging Het
Apc T A 18: 34,445,126 (GRCm39) I674K probably damaging Het
Arhgef2 A G 3: 88,551,262 (GRCm39) R808G probably damaging Het
Asap1 A G 15: 64,002,105 (GRCm39) V402A probably damaging Het
Aspg T C 12: 112,091,255 (GRCm39) V479A possibly damaging Het
B3galnt2 G A 13: 14,169,070 (GRCm39) V368M probably benign Het
Bahcc1 T C 11: 120,177,132 (GRCm39) S2007P probably damaging Het
Cyfip2 A T 11: 46,087,254 (GRCm39) I1212N possibly damaging Het
Dnajc16 A T 4: 141,491,124 (GRCm39) D675E probably damaging Het
Dram2 T C 3: 106,462,503 (GRCm39) F4L probably damaging Het
Dsp A G 13: 38,379,425 (GRCm39) T2057A probably benign Het
Dync1h1 T G 12: 110,602,887 (GRCm39) L2176R probably damaging Het
Efhb A T 17: 53,708,549 (GRCm39) I707N possibly damaging Het
Eif2ak4 A G 2: 118,302,377 (GRCm39) T1555A probably benign Het
Erc1 G A 6: 119,801,912 (GRCm39) T35I possibly damaging Het
Esr2 C A 12: 76,188,168 (GRCm39) M363I probably benign Het
Etl4 A T 2: 20,749,000 (GRCm39) N446I possibly damaging Het
Evpl T A 11: 116,113,782 (GRCm39) K1303* probably null Het
Fam135b A T 15: 71,335,529 (GRCm39) V555E probably damaging Het
Fam186b A G 15: 99,177,970 (GRCm39) L452P probably benign Het
Fmn1 A T 2: 113,271,956 (GRCm39) Q108L unknown Het
Gcc2 A G 10: 58,092,723 (GRCm39) T48A probably benign Het
Gm6619 T G 6: 131,467,354 (GRCm39) I73S possibly damaging Het
Gm8267 T A 14: 44,960,397 (GRCm39) D116V probably damaging Het
Gtf3c3 G A 1: 54,459,607 (GRCm39) T385M probably benign Het
Iqgap2 C A 13: 95,764,584 (GRCm39) M1553I probably benign Het
Kcnk1 G T 8: 126,722,307 (GRCm39) G37C probably damaging Het
Kifc3 T C 8: 95,864,615 (GRCm39) M32V probably benign Het
Krt81 C A 15: 101,359,251 (GRCm39) K222N possibly damaging Het
Lrrc63 A G 14: 75,363,697 (GRCm39) S145P possibly damaging Het
Mybbp1a T A 11: 72,342,101 (GRCm39) V1279E probably benign Het
Niban3 A G 8: 72,052,808 (GRCm39) D94G probably benign Het
Or11g26 A T 14: 50,752,853 (GRCm39) Y64F probably damaging Het
Or8u9 T A 2: 86,001,354 (GRCm39) D269V probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Pramel12 A G 4: 143,145,410 (GRCm39) Y293C probably benign Het
Ptpn18 T C 1: 34,512,416 (GRCm39) V407A probably benign Het
Ptpn9 T A 9: 56,934,717 (GRCm39) Y160* probably null Het
Ptprj T C 2: 90,280,163 (GRCm39) K1045R possibly damaging Het
Rundc3a G T 11: 102,290,872 (GRCm39) probably null Het
Scn11a C T 9: 119,587,692 (GRCm39) V1351I probably benign Het
Slc26a9 A G 1: 131,690,556 (GRCm39) Y520C probably damaging Het
Spata20 G A 11: 94,374,867 (GRCm39) A245V probably benign Het
Steap3 A C 1: 120,169,248 (GRCm39) F350V probably benign Het
Swt1 A T 1: 151,286,815 (GRCm39) F226I probably benign Het
Taar7f A G 10: 23,925,885 (GRCm39) T160A possibly damaging Het
Timd5 G A 11: 46,419,382 (GRCm39) W66* probably null Het
Vmn2r84 T C 10: 130,227,982 (GRCm39) T85A possibly damaging Het
Zfp426 T C 9: 20,382,147 (GRCm39) E280G possibly damaging Het
Zfp810 C A 9: 22,190,568 (GRCm39) E78* probably null Het
Zfp937 GTGATAAGGCATTTGCACAAAACAGTCATCTCCTAACACATAAAAGAACACAT G 2: 150,080,630 (GRCm39) probably null 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
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'- ATTTGATGGAGAGCAAGGCATTTAG -3'
(R):5'- CCAGTATGGCGGTTCATTTG -3'

Sequencing Primer
(F):5'- GTTGTTATGCACAGATGCATA -3'
(R):5'- GCAGGATGTTCTAGATTAGGCAG -3'
Posted On 2019-10-07