|Institutional Source||Beutler Lab|
|Gene Name||ubiquitin-like, containing PHD and RING finger domains 2|
|Synonyms||Nirf, D130071B19Rik, 2310065A22Rik|
|Is this an essential gene?||Probably essential (E-score: 0.806)|
|Stock #||R7079 (G1)|
|Chromosomal Location||30030513-30093722 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 30082790 bp|
|Amino Acid Change||Asparagine to Lysine at position 519 (N519K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025739 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025739]|
|Predicted Effect||probably null
AA Change: N519K
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N519K
|Coding Region Coverage||
|Validation Efficiency||98% (50/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together they may play a role in tumorigenesis. The encoded protein contains an NIRF_N domain, a PHD finger, a set- and ring-associated (SRA) domain, and a RING finger domain and several of these domains have been shown to be essential for the regulation of cell proliferation. This protein may also have a role in intranuclear degradation of polyglutamine aggregates. Alternative splicing results in multiple transcript variants some of which are non-protein coding. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous KO causes deregulated expression of neuron-related genes, reduced DNA methylation in the brain and impaired contextual conditioning and spatial memory. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Uhrf2||
(F):5'- GCACACTTGGTCATGTTTTGC -3'
(R):5'- GGGGATTATGCTACTTAAACGTG -3'
(F):5'- GCTTTATTTTGGCAAATTCTCTGAG -3'
(R):5'- GGATTATGCTACTTAAACGTGAACAG -3'