|Institutional Source||Beutler Lab|
|Gene Name||B cell leukemia/lymphoma 2|
|Synonyms||D830018M01Rik, C430015F12Rik, Bcl-2|
|Is this an essential gene?||Probably essential (E-score: 0.927)|
|Stock #||R7920 (G1)|
|Chromosomal Location||106538178-106714274 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 106543356 bp|
|Amino Acid Change||Phenylalanine to Valine at position 207 (F207V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000108371 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000112751]|
|Predicted Effect||possibly damaging
AA Change: F207V
PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: F207V
|Coding Region Coverage||
FUNCTION: This gene encodes a member of the B cell lymphoma 2 protein family. Members of this family regulate cell death in multiple cell types and can have either proapoptotic or antiapoptotic activities. The protein encoded by this gene inhibits mitochondrial-mediated apoptosis. This protein is an integral outer mitochondrial membrane protein that functions as part of signaling pathway that controls mitochondrial permeability in response to apoptotic stimuli. This protein may also play a role in neuron cell survival and autophagy. Abnormal expression and chromosomal translocations of this gene are associated with cancer progression in numerous tissues. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mutants show pleiotropic abnormalities including small size, increased postnatal mortality, polycystic kidneys, apoptotic involution of thymus and spleen, graying in the second hair follicle cycle, and reduced numbers of motor, sympathetic and sensory neurons. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bcl2||
(F):5'- GCTGATTCGACCATTTGCC -3'
(R):5'- AGGTCTGAAGTTACCTGGCATG -3'
(F):5'- GATTCGACCATTTGCCTGAATG -3'
(R):5'- AGTTACCTGGCATGCAGGG -3'