|Institutional Source||Beutler Lab|
|Gene Name||breast cancer 2, early onset|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0745 (G1)|
|Chromosomal Location||150522630-150570329 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||A to T at 150544882 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000144150 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044620] [ENSMUST00000202313]|
|AlphaFold||no structure available at present|
|Coding Region Coverage||
|Validation Efficiency||100% (40/40)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous null mutants are embryonic lethal with abnormalities including growth retardation, neural tube defects, and mesoderm abnormalities; conditional mutations cause genetic instability and enhanced tumor formation; mutants with truncated BRCA2 protein survive, are small, infertile, show improper tissue differentiation and develop lymphomas and carcinomas. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Brca2||
(F):5'- AGCTTGTGGACTCAGAGTATCGGAA -3'
(R):5'- TGCCCTAGTAGGCATCATGGATGAA -3'
(F):5'- GTCTAGCCTTACCATATAGTGGAG -3'
(R):5'- TTCTGTACACAGAAATGAACCAAGG -3'