|Institutional Source||Beutler Lab|
|Gene Name||mitogen-activated protein kinase 8 interacting protein 2|
|Synonyms||IB2, Jip2, 3230402N03Rik, JNK-interacting protein|
|Essential gene?||Possibly essential (E-score: 0.507)|
|Stock #||R4275 (G1)|
|Chromosomal Location||89453913-89464468 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 89458995 bp (GRCm38)|
|Amino Acid Change||Tryptophan to Arginine at position 647 (W647R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023291 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023291] [ENSMUST00000137755]|
AA Change: W647R
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: W647R
|Meta Mutation Damage Score||0.6190|
|Coding Region Coverage||
|Validation Efficiency||98% (43/44)|
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'- ACTCTCTTGGCCAAGATGAC -3'
(R):5'- ACTGCACATCGAAGCGATCC -3'
(F):5'- TTGGCCAAGATGACCCTTAG -3'
(R):5'- TCGAAGCGATCCACCCAG -3'