|Institutional Source||Beutler Lab|
|Gene Name||interleukin 12 receptor, beta 2|
|Synonyms||IL-12RB2, Ifnm, A930027I18Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2920 (G1)|
|Chromosomal Location||67291318-67376188 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 67360568 bp|
|Amino Acid Change||Valine to Isoleucine at position 110 (V110I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000010605 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018485]|
|Predicted Effect||probably damaging
AA Change: V110I
PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: V110I
|Meta Mutation Damage Score||0.2940|
|Coding Region Coverage||
|Validation Efficiency||96% (48/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The expression of this gene is up-regulated by interferon gamma in Th1 cells, and plays a role in Th1 cell differentiation. The up-regulation of this gene is found to be associated with a number of infectious diseases, such as Crohn's disease and leprosy, which is thought to contribute to the inflammatory response and host defense. Several transcript variants encoding different isoforms and non-protein coding transcripts have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a knock-out allele have defects in IFN-gamma production and cytotoxic T lymphocyte and NK cytotoxicity, develop an autoimmune/lymphoproliferative disorder associated with higher susceptibility to spontaneous tumor formation, but show reduced in vivo growth of B16 melanoma tumors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Il12rb2||
(F):5'- ACTGAGATTCCCATGCTGCTC -3'
(R):5'- TCCCAAGCAAGGCTGTTCAC -3'
(F):5'- ACAAAGAAATCTGTCTGGTGTTTGG -3'
(R):5'- GCAAGGCTGTTCACATTATCCCAG -3'