|Institutional Source||Beutler Lab|
|Gene Name||mitogen-activated protein kinase 8 interacting protein 2|
|Synonyms||IB2, Jip2, 3230402N03Rik, JNK-interacting protein|
|Is this an essential gene?||Possibly non essential (E-score: 0.300)|
|Stock #||R2355 (G1)|
|Chromosomal Location||89453913-89464468 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 89458965 bp|
|Amino Acid Change||Valine to Leucine at position 637 (V637L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023291 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023291] [ENSMUST00000137755]|
|Predicted Effect||probably benign
AA Change: V637L
PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
AA Change: V637L
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is closely related to MAPK8IP1/IB1/JIP-1, a scaffold protein that is involved in the c-Jun amino-terminal kinase signaling pathway. This protein is expressed in brain and pancreatic cells. It has been shown to interact with, and regulate the activity of MAPK8/JNK1, and MAP2K7/MKK7 kinases. This protein thus is thought to function as a regulator of signal transduction by protein kinase cascade in brain and pancreatic beta-cells. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a null allele are smaller in size and exhibit male infertility. Mice homozygous for a different knock-out allele exhibit behavioral and cerebellar transmission deficits. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mapk8ip2||
(F):5'- AGGCACTGAGTCCTTTGGTC -3'
(R):5'- ACACAGTCTGAGGTTGATATAGGGG -3'
(F):5'- CCTGTGTGGTGAATGGGGAG -3'
(R):5'- GGAAGTCTGTGGTGGCAAGC -3'