|Institutional Source||Beutler Lab|
|Gene Name||cyclin dependent kinase inhibitor 2B|
|Synonyms||p15INK4b, MTS2, p15|
|Is this an essential gene?||Not available|
|Stock #||R7611 (G1)|
|Chromosomal Location||89306289-89311032 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 89310743 bp|
|Amino Acid Change||Valine to Leucine at position 19 (V19L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000095595 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000097981]|
|PDB Structure||TUMOR SUPPRESSOR P15(INK4B) STRUCTURE BY COMPARATIVE MODELING AND NMR DATA [SOLUTION NMR]|
|Predicted Effect||probably benign
AA Change: V19L
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: V19L
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Animals homozygous for a mutation in this gene exhibit increased tumor incidence, lymphoid hyperplasia, and extramedullary hematopoiesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdkn2b||
(F):5'- CTAGTGCCGAGGGATGTTTC -3'
(R):5'- TCATGACGTCACCAAGTGTG -3'
(F):5'- CCGAGGGATGTTTCGATCG -3'
(R):5'- AGAACGCTGCAGCTCAG -3'