|Institutional Source||Beutler Lab|
|Gene Name||tribbles pseudokinase 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.483)|
|Stock #||R6988 (G1)|
|Chromosomal Location||15791727-15816922 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 15815338 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 79 (S79P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000152685 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020922] [ENSMUST00000221215] [ENSMUST00000221518]|
AA Change: S55P
PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
AA Change: S55P
AA Change: S79P
PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of three members of the Tribbles family. The Tribbles members share a Trb domain, which is homologous to protein serine-threonine kinases, but lacks the active site lysine and probably lacks a catalytic function. The Tribbles proteins interact and modulate the activity of signal transduction pathways in a number of physiological and pathological processes. This Tribbles member induces apoptosis of cells mainly of the hematopoietic origin. It has been identified as a protein up-regulated by inflammatory stimuli in myeloid (THP-1) cells, and also as an oncogene that inactivates the transcription factor C/EBPalpha (CCAAT/enhancer-binding protein alpha) and causes acute myelogenous leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit nitrituria. Female homozygotes display decreased circulating triglyceride levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trib2||
(F):5'- ACTTGAGAGCTTTCCGACCTCC -3'
(R):5'- TGCGATCCTCACACTCATG -3'
(F):5'- CTGGCAAAAGACCCAGGATG -3'
(R):5'- TCATGAACATACACAGGTCTACC -3'