|Institutional Source||Beutler Lab|
|Gene Name||breakpoint cluster region|
|Is this an essential gene?||Probably essential (E-score: 0.941)|
|Stock #||R6990 (G1)|
|Chromosomal Location||75060592-75184921 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 75131036 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 492 (E492K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000126377 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000164107]|
|Predicted Effect||possibly damaging
AA Change: E492K
PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: E492K
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are defective in hormonal and behavioral stress response regulation and prone to septic shock, whereas chimeric mice carrying a BCR-ABL fusion mutation mimicking human Philadelphia chromosome develop chronic myeloid leukemia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bcr||
(F):5'- CTGCTCAGCATGAAACTTCC -3'
(R):5'- AGGTCCTCGGTTAGTATCTCC -3'
(F):5'- AGCATGAAACTTCCCATTTCCTAG -3'
(R):5'- TAGTATCTCCCAGCCCCTAGAGG -3'