|Institutional Source||Beutler Lab|
|Gene Name||UPF2 regulator of nonsense transcripts homolog (yeast)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7184 (G1)|
|Chromosomal Location||5951469-6056703 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 6023320 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 739 (D739G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000058375 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000060092]|
AA Change: D739G
AA Change: D739G
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.8518|
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
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||
|Other mutations in Upf2||
(F):5'- AAGGAAACTAGTAGCTCCCTAGG -3'
(R):5'- TAACCTGTCCTGTCCTGGAG -3'
(F):5'- AGTAGCTCCCTAGGTCTTAGAAC -3'
(R):5'- CCTCACGGTGACTATGACTATATGAC -3'