Brca2 - SNV Details



 Human Rare Diseases 
Fanconi anemia
Hereditary breast and ovarian cancer syndrome
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Familial prostate cancer
Familial pancreatic carcinoma

 Gene Information 
Gene Name Brca2
Old Gene Names for Brca2 Ai256696 , Aw045498
Gene Description breast cancer 2 [Source:MGI Symbol;Acc:MGI:109337]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
nucleoplasm; histone H4 acetylation; positive regulation of transcription
DNA-templated; chordate embryonic development; inner cell mass cell proliferation; regulation of transcription
DNA-templated; spermatogenesis; protease binding; cytoplasm; cell proliferation; DNA repair; centrosome duplication; H3 histone acetyltransferase activity; BRCA2-MAGE-D1 complex; nucleotide-excision repair; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; H4 histone acetyltransferase activity; intrinsic apoptotic signaling pathway in response to DNA damage; protein complex; regulation of cytokinesis; female gonad development; protein binding; response to gamma radiation; nucleus; replication fork protection; double-strand break repair via homologous recombination; regulation of cell proliferation; cell aging; hemopoiesis; double-strand break repair; DNA recombination; negative regulation of mammary gland epithelial cell proliferation; gamma-tubulin binding; cytokinesis; secretory granule; male meiosis I; chromosome organization; DNA damage response
signal transduction by p53 class mediator resulting in transcription of p21 class mediator; positive regulation of mitotic cell cycle; cellular response to DNA damage stimulus; oocyte maturation; response to UV-C; single-stranded DNA binding; centrosome; brain development; histone H3 acetylation; response to X-ray
Homolog in other species BRCA2
Omim http://omim.org/entry/600185
Immgen Expression
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, TGD.VG5+.ACT.IEL, NK.MCMV1.SP, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, T.4SP24-.TH, T.8SP24-.TH, DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM GROUP, OSTEO GROUP, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000041147
Chromosome 5
Coordinate 150,542,552     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 46
Allele Frequency
C:R0.61
T:V0.39
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL02871
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 29 Other Mutations

 Predictions 
Polyphen Score 0.89
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved