|Institutional Source||Beutler Lab|
|Gene Name||breakpoint cluster region|
|Is this an essential gene?||Probably essential (E-score: 0.935)|
|Stock #||R3753 (G1)|
|Chromosomal Location||75060592-75184921 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 75135940 bp|
|Amino Acid Change||Valine to Alanine at position 599 (V599A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000126377 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000164107]|
|Predicted Effect||probably benign
AA Change: V599A
PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: V599A
|Meta Mutation Damage Score||0.0740|
|Coding Region Coverage||
|Validation Efficiency||98% (49/50)|
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'- TCGGAAGAGCAGGTTTCTG -3'
(R):5'- TCAGAGCTGGGGTTCATACC -3'
(F):5'- AGGTTTCTGCAGCCCTCG -3'
(R):5'- ACTTTGTTCTCCCAACGACCG -3'