Incidental Mutation 'R0548:Brca2'
ID 44964
Institutional Source Beutler Lab
Gene Symbol Brca2
Ensembl Gene ENSMUSG00000041147
Gene Name breast cancer 2, early onset
Synonyms Fancd1, RAB163
MMRRC Submission 038740-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0548 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 150446095-150493794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 150468400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 2242 (D2242E)
Ref Sequence ENSEMBL: ENSMUSP00000144150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044620] [ENSMUST00000202313]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000044620
AA Change: D2242E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038576
Gene: ENSMUSG00000041147
AA Change: D2242E

DomainStartEndE-ValueType
low complexity region 36 51 N/A INTRINSIC
low complexity region 100 123 N/A INTRINSIC
low complexity region 187 199 N/A INTRINSIC
low complexity region 746 761 N/A INTRINSIC
low complexity region 904 917 N/A INTRINSIC
Pfam:BRCA2 982 1014 2.6e-13 PFAM
Pfam:BRCA2 1193 1225 3.9e-16 PFAM
low complexity region 1239 1252 N/A INTRINSIC
Pfam:BRCA2 1395 1425 1.4e-13 PFAM
Pfam:BRCA2 1492 1524 1.8e-13 PFAM
Pfam:BRCA2 1624 1655 8.4e-12 PFAM
Pfam:BRCA2 1925 1957 8e-15 PFAM
Pfam:BRCA2 2005 2037 1.7e-11 PFAM
Pfam:BRCA-2_helical 2402 2588 1.3e-94 PFAM
Pfam:BRCA-2_OB1 2591 2717 5.3e-44 PFAM
Tower 2752 2793 2.37e-18 SMART
Pfam:BRCA-2_OB3 2971 3104 1.5e-49 PFAM
low complexity region 3197 3208 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180345
Predicted Effect probably damaging
Transcript: ENSMUST00000202313
AA Change: D2242E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144150
Gene: ENSMUSG00000041147
AA Change: D2242E

DomainStartEndE-ValueType
low complexity region 36 51 N/A INTRINSIC
low complexity region 100 123 N/A INTRINSIC
low complexity region 187 199 N/A INTRINSIC
low complexity region 746 761 N/A INTRINSIC
low complexity region 904 917 N/A INTRINSIC
Pfam:BRCA2 982 1014 2.6e-13 PFAM
Pfam:BRCA2 1193 1225 3.9e-16 PFAM
low complexity region 1239 1252 N/A INTRINSIC
Pfam:BRCA2 1395 1425 1.4e-13 PFAM
Pfam:BRCA2 1492 1524 1.8e-13 PFAM
Pfam:BRCA2 1624 1655 8.4e-12 PFAM
Pfam:BRCA2 1925 1957 8e-15 PFAM
Pfam:BRCA2 2005 2037 1.7e-11 PFAM
Pfam:BRCA-2_helical 2402 2588 1.3e-94 PFAM
Pfam:BRCA-2_OB1 2591 2717 5.3e-44 PFAM
Tower 2752 2793 2.37e-18 SMART
Pfam:BRCA-2_OB3 2971 3104 1.5e-49 PFAM
low complexity region 3197 3208 N/A INTRINSIC
Meta Mutation Damage Score 0.0858 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 97% (62/64)
MGI Phenotype 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
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T G 8: 41,279,504 (GRCm39) C632G probably damaging Het
Adamtsl3 T C 7: 82,178,191 (GRCm39) probably null Het
Agfg1 A G 1: 82,864,152 (GRCm39) T447A probably damaging Het
Ankrd37 C T 8: 46,451,433 (GRCm39) probably null Het
Apob A T 12: 8,056,282 (GRCm39) D1555V probably damaging Het
Asxl3 T A 18: 22,654,849 (GRCm39) probably benign Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Cdk5rap2 A T 4: 70,267,379 (GRCm39) probably null Het
Cox10 A T 11: 63,867,178 (GRCm39) Y273N probably damaging Het
Dcbld2 A T 16: 58,275,508 (GRCm39) D408V probably damaging Het
Enam A T 5: 88,650,964 (GRCm39) E824D probably damaging Het
Epm2aip1 T C 9: 111,102,409 (GRCm39) Y461H probably damaging Het
Fam72a T A 1: 131,461,599 (GRCm39) S95T probably damaging Het
Fiz1 A T 7: 5,012,167 (GRCm39) V117D possibly damaging Het
Gm10355 C T 3: 101,214,376 (GRCm39) noncoding transcript Het
Gm11595 A T 11: 99,662,967 (GRCm39) C238S unknown Het
Gm7589 T G 9: 59,053,439 (GRCm39) noncoding transcript Het
H6pd A T 4: 150,066,073 (GRCm39) V771E probably damaging Het
Htt T C 5: 35,028,090 (GRCm39) L1782P probably damaging Het
Il33 T C 19: 29,932,047 (GRCm39) S147P probably benign Het
Lct T C 1: 128,212,932 (GRCm39) Y1907C probably damaging Het
Lrp2 G A 2: 69,367,982 (GRCm39) probably benign Het
Maco1 T C 4: 134,533,971 (GRCm39) D550G probably damaging Het
Map1b T C 13: 99,568,191 (GRCm39) K1510R unknown Het
Marco T C 1: 120,419,767 (GRCm39) T187A probably benign Het
Mki67 A T 7: 135,298,637 (GRCm39) N2132K possibly damaging Het
Mki67 T A 7: 135,296,985 (GRCm39) K2683M probably damaging Het
Mmp15 T C 8: 96,098,979 (GRCm39) V602A probably damaging Het
Mphosph10 T A 7: 64,028,548 (GRCm39) M536L probably benign Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
N4bp2 G T 5: 65,965,496 (GRCm39) V1182L probably benign Het
Nlrc5 C A 8: 95,248,411 (GRCm39) F1715L probably null Het
Nsd2 T A 5: 34,050,882 (GRCm39) V1253E probably damaging Het
Numa1 T C 7: 101,644,731 (GRCm39) S236P possibly damaging Het
Or2a52 T A 6: 43,144,121 (GRCm39) I43K probably benign Het
Or4c120 C A 2: 89,000,992 (GRCm39) C188F probably damaging Het
Or8g18 A T 9: 39,149,667 (GRCm39) S18T probably benign Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Pi4ka A T 16: 17,125,582 (GRCm39) N4K possibly damaging Het
Plxna4 A T 6: 32,134,950 (GRCm39) I1751N probably damaging Het
Postn C A 3: 54,274,997 (GRCm39) S122* probably null Het
Ppp4r4 A T 12: 103,579,074 (GRCm39) R762* probably null Het
Rrm1 G T 7: 102,116,274 (GRCm39) probably null Het
Rrp15 A G 1: 186,468,431 (GRCm39) V195A probably benign Het
Rtl1 T A 12: 109,558,089 (GRCm39) D1250V probably damaging Het
Rxrg T C 1: 167,458,788 (GRCm39) probably benign Het
Scn10a T C 9: 119,494,994 (GRCm39) K416E probably benign Het
Serping1 T C 2: 84,600,425 (GRCm39) probably benign Het
Slc12a6 T C 2: 112,166,269 (GRCm39) probably null Het
Smo A T 6: 29,759,585 (GRCm39) Q639L possibly damaging Het
Synrg T C 11: 83,873,014 (GRCm39) probably benign Het
Tars2 T C 3: 95,649,971 (GRCm39) D470G probably damaging Het
Tln1 T C 4: 43,542,709 (GRCm39) N1399S possibly damaging Het
Tmem131 A G 1: 36,877,119 (GRCm39) V240A probably damaging Het
Tmem232 G A 17: 65,689,615 (GRCm39) T500I probably benign Het
Toporsl G A 4: 52,612,140 (GRCm39) V678M possibly damaging Het
Vmn1r7 A T 6: 57,002,066 (GRCm39) F65I probably damaging Het
Wdfy4 C T 14: 32,764,578 (GRCm39) M2257I probably benign Het
Wdr20rt T A 12: 65,274,089 (GRCm39) D344E probably benign Het
Xirp2 C T 2: 67,344,758 (GRCm39) A2333V probably benign Het
Zfyve16 T C 13: 92,631,452 (GRCm39) K1381R probably benign Het
Zscan18 G T 7: 12,508,103 (GRCm39) P466T probably damaging Het
Other mutations in Brca2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Brca2 APN 5 150,463,363 (GRCm39) missense probably benign 0.18
IGL00392:Brca2 APN 5 150,464,705 (GRCm39) missense probably benign 0.02
IGL00557:Brca2 APN 5 150,484,003 (GRCm39) missense probably benign
IGL00798:Brca2 APN 5 150,462,928 (GRCm39) missense probably benign 0.30
IGL00933:Brca2 APN 5 150,465,869 (GRCm39) missense probably benign 0.04
IGL00964:Brca2 APN 5 150,455,775 (GRCm39) missense probably damaging 1.00
IGL01152:Brca2 APN 5 150,465,855 (GRCm39) missense probably damaging 0.99
IGL01577:Brca2 APN 5 150,465,085 (GRCm39) nonsense probably null
IGL01585:Brca2 APN 5 150,462,981 (GRCm39) missense possibly damaging 0.76
IGL01732:Brca2 APN 5 150,465,852 (GRCm39) missense probably benign 0.13
IGL01809:Brca2 APN 5 150,454,526 (GRCm39) splice site probably null
IGL01911:Brca2 APN 5 150,491,078 (GRCm39) missense probably damaging 0.96
IGL02113:Brca2 APN 5 150,464,444 (GRCm39) missense possibly damaging 0.95
IGL02313:Brca2 APN 5 150,462,126 (GRCm39) missense probably damaging 1.00
IGL02342:Brca2 APN 5 150,466,289 (GRCm39) missense possibly damaging 0.94
IGL02508:Brca2 APN 5 150,466,773 (GRCm39) missense possibly damaging 0.85
IGL02532:Brca2 APN 5 150,474,327 (GRCm39) missense probably damaging 1.00
IGL02646:Brca2 APN 5 150,484,255 (GRCm39) missense possibly damaging 0.89
IGL02738:Brca2 APN 5 150,490,500 (GRCm39) missense probably damaging 1.00
IGL02833:Brca2 APN 5 150,465,255 (GRCm39) missense possibly damaging 0.83
IGL02871:Brca2 APN 5 150,466,017 (GRCm39) missense probably benign 0.13
IGL02995:Brca2 APN 5 150,452,953 (GRCm39) missense probably damaging 1.00
IGL03105:Brca2 APN 5 150,483,950 (GRCm39) missense probably benign 0.02
BB007:Brca2 UTSW 5 150,481,975 (GRCm39) missense probably damaging 0.96
BB017:Brca2 UTSW 5 150,481,975 (GRCm39) missense probably damaging 0.96
R0219:Brca2 UTSW 5 150,446,640 (GRCm39) splice site probably benign
R0416:Brca2 UTSW 5 150,492,857 (GRCm39) missense possibly damaging 0.93
R0441:Brca2 UTSW 5 150,465,322 (GRCm39) missense probably damaging 0.96
R0745:Brca2 UTSW 5 150,468,347 (GRCm39) splice site probably benign
R0799:Brca2 UTSW 5 150,483,658 (GRCm39) missense probably damaging 0.99
R1165:Brca2 UTSW 5 150,466,212 (GRCm39) missense probably damaging 0.98
R1247:Brca2 UTSW 5 150,464,739 (GRCm39) missense probably damaging 1.00
R1403:Brca2 UTSW 5 150,466,114 (GRCm39) missense probably benign 0.22
R1403:Brca2 UTSW 5 150,466,114 (GRCm39) missense probably benign 0.22
R1444:Brca2 UTSW 5 150,465,915 (GRCm39) missense probably benign
R1466:Brca2 UTSW 5 150,475,723 (GRCm39) missense probably damaging 0.99
R1466:Brca2 UTSW 5 150,475,723 (GRCm39) missense probably damaging 0.99
R1584:Brca2 UTSW 5 150,475,723 (GRCm39) missense probably damaging 0.99
R1599:Brca2 UTSW 5 150,472,178 (GRCm39) nonsense probably null
R1600:Brca2 UTSW 5 150,484,295 (GRCm39) splice site probably benign
R1822:Brca2 UTSW 5 150,463,663 (GRCm39) missense probably benign 0.06
R1824:Brca2 UTSW 5 150,460,387 (GRCm39) missense possibly damaging 0.94
R2037:Brca2 UTSW 5 150,464,134 (GRCm39) missense probably benign
R2131:Brca2 UTSW 5 150,480,594 (GRCm39) missense probably damaging 1.00
R2203:Brca2 UTSW 5 150,462,967 (GRCm39) missense possibly damaging 0.58
R2208:Brca2 UTSW 5 150,455,809 (GRCm39) missense probably damaging 0.96
R2293:Brca2 UTSW 5 150,483,999 (GRCm39) missense possibly damaging 0.86
R2517:Brca2 UTSW 5 150,463,137 (GRCm39) missense probably benign 0.04
R2566:Brca2 UTSW 5 150,465,227 (GRCm39) missense probably benign 0.03
R3422:Brca2 UTSW 5 150,466,586 (GRCm39) missense possibly damaging 0.91
R3917:Brca2 UTSW 5 150,464,292 (GRCm39) missense probably damaging 0.96
R3946:Brca2 UTSW 5 150,460,169 (GRCm39) missense probably damaging 0.96
R4176:Brca2 UTSW 5 150,463,098 (GRCm39) nonsense probably null
R4255:Brca2 UTSW 5 150,464,634 (GRCm39) missense possibly damaging 0.92
R4450:Brca2 UTSW 5 150,459,518 (GRCm39) missense probably damaging 0.96
R4603:Brca2 UTSW 5 150,459,630 (GRCm39) missense possibly damaging 0.86
R4681:Brca2 UTSW 5 150,475,863 (GRCm39) splice site probably null
R4755:Brca2 UTSW 5 150,483,452 (GRCm39) splice site probably null
R4762:Brca2 UTSW 5 150,454,581 (GRCm39) missense probably benign 0.00
R4824:Brca2 UTSW 5 150,463,200 (GRCm39) missense probably damaging 1.00
R4887:Brca2 UTSW 5 150,480,402 (GRCm39) missense probably damaging 1.00
R5020:Brca2 UTSW 5 150,483,901 (GRCm39) missense probably damaging 1.00
R5159:Brca2 UTSW 5 150,465,573 (GRCm39) missense possibly damaging 0.93
R5216:Brca2 UTSW 5 150,466,445 (GRCm39) missense probably damaging 0.99
R5269:Brca2 UTSW 5 150,462,688 (GRCm39) missense possibly damaging 0.75
R5274:Brca2 UTSW 5 150,463,154 (GRCm39) missense probably benign 0.00
R5589:Brca2 UTSW 5 150,480,597 (GRCm39) missense possibly damaging 0.67
R5619:Brca2 UTSW 5 150,480,579 (GRCm39) missense probably damaging 0.96
R5641:Brca2 UTSW 5 150,480,364 (GRCm39) missense probably damaging 1.00
R5686:Brca2 UTSW 5 150,464,369 (GRCm39) missense probably benign 0.00
R5730:Brca2 UTSW 5 150,492,470 (GRCm39) missense possibly damaging 0.85
R5763:Brca2 UTSW 5 150,471,471 (GRCm39) missense possibly damaging 0.85
R5877:Brca2 UTSW 5 150,466,686 (GRCm39) missense possibly damaging 0.53
R5893:Brca2 UTSW 5 150,492,603 (GRCm39) missense probably benign 0.02
R5900:Brca2 UTSW 5 150,464,597 (GRCm39) missense probably benign 0.01
R5926:Brca2 UTSW 5 150,458,087 (GRCm39) missense probably benign 0.07
R5966:Brca2 UTSW 5 150,466,716 (GRCm39) missense probably damaging 0.99
R6025:Brca2 UTSW 5 150,465,040 (GRCm39) frame shift probably null
R6062:Brca2 UTSW 5 150,480,354 (GRCm39) missense probably damaging 0.96
R6141:Brca2 UTSW 5 150,464,102 (GRCm39) missense possibly damaging 0.91
R6244:Brca2 UTSW 5 150,490,443 (GRCm39) missense probably benign 0.08
R6508:Brca2 UTSW 5 150,460,058 (GRCm39) missense possibly damaging 0.91
R6519:Brca2 UTSW 5 150,464,444 (GRCm39) missense probably damaging 0.99
R6611:Brca2 UTSW 5 150,459,658 (GRCm39) missense probably damaging 0.99
R6698:Brca2 UTSW 5 150,455,859 (GRCm39) missense probably damaging 1.00
R6856:Brca2 UTSW 5 150,463,673 (GRCm39) missense possibly damaging 0.68
R6912:Brca2 UTSW 5 150,465,207 (GRCm39) missense probably damaging 0.99
R7002:Brca2 UTSW 5 150,463,383 (GRCm39) missense probably benign
R7025:Brca2 UTSW 5 150,463,943 (GRCm39) missense probably benign 0.39
R7151:Brca2 UTSW 5 150,464,901 (GRCm39) missense probably benign 0.12
R7202:Brca2 UTSW 5 150,455,819 (GRCm39) missense probably benign 0.03
R7365:Brca2 UTSW 5 150,455,802 (GRCm39) missense probably damaging 0.99
R7510:Brca2 UTSW 5 150,460,156 (GRCm39) missense possibly damaging 0.85
R7612:Brca2 UTSW 5 150,464,076 (GRCm39) missense probably benign 0.03
R7682:Brca2 UTSW 5 150,466,618 (GRCm39) missense probably benign
R7890:Brca2 UTSW 5 150,462,846 (GRCm39) missense possibly damaging 0.83
R7930:Brca2 UTSW 5 150,481,975 (GRCm39) missense probably damaging 0.96
R7940:Brca2 UTSW 5 150,462,198 (GRCm39) missense probably benign
R8054:Brca2 UTSW 5 150,459,969 (GRCm39) missense probably benign 0.02
R8056:Brca2 UTSW 5 150,492,771 (GRCm39) missense possibly damaging 0.85
R8080:Brca2 UTSW 5 150,463,357 (GRCm39) missense probably benign 0.11
R8094:Brca2 UTSW 5 150,459,634 (GRCm39) missense possibly damaging 0.85
R8306:Brca2 UTSW 5 150,460,128 (GRCm39) missense possibly damaging 0.91
R8401:Brca2 UTSW 5 150,475,817 (GRCm39) missense probably damaging 1.00
R8523:Brca2 UTSW 5 150,483,613 (GRCm39) missense possibly damaging 0.75
R8784:Brca2 UTSW 5 150,472,126 (GRCm39) nonsense probably null
R8791:Brca2 UTSW 5 150,466,061 (GRCm39) missense possibly damaging 0.92
R8832:Brca2 UTSW 5 150,465,611 (GRCm39) missense possibly damaging 0.91
R8838:Brca2 UTSW 5 150,465,005 (GRCm39) missense possibly damaging 0.91
R8845:Brca2 UTSW 5 150,466,847 (GRCm39) missense possibly damaging 0.85
R8898:Brca2 UTSW 5 150,492,498 (GRCm39) missense possibly damaging 0.53
R8914:Brca2 UTSW 5 150,465,208 (GRCm39) missense probably damaging 0.96
R8935:Brca2 UTSW 5 150,492,446 (GRCm39) missense possibly damaging 0.70
R9014:Brca2 UTSW 5 150,465,219 (GRCm39) missense probably benign
R9023:Brca2 UTSW 5 150,465,360 (GRCm39) missense probably benign 0.07
R9094:Brca2 UTSW 5 150,475,770 (GRCm39) missense probably benign 0.08
R9195:Brca2 UTSW 5 150,463,418 (GRCm39) missense possibly damaging 0.83
R9198:Brca2 UTSW 5 150,459,977 (GRCm39) missense possibly damaging 0.91
R9314:Brca2 UTSW 5 150,474,359 (GRCm39) missense probably damaging 0.96
R9408:Brca2 UTSW 5 150,464,982 (GRCm39) missense probably damaging 1.00
R9459:Brca2 UTSW 5 150,464,094 (GRCm39) missense probably damaging 0.98
R9512:Brca2 UTSW 5 150,454,546 (GRCm39) missense probably benign 0.40
R9622:Brca2 UTSW 5 150,480,410 (GRCm39) missense probably damaging 0.96
R9777:Brca2 UTSW 5 150,480,579 (GRCm39) missense probably damaging 0.99
Z1088:Brca2 UTSW 5 150,466,228 (GRCm39) missense probably damaging 0.96
Z1186:Brca2 UTSW 5 150,460,048 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGCTTGTGGACTCAGAGTATCGGAA -3'
(R):5'- TGCCCTAGTAGGCATCATGGATGAA -3'

Sequencing Primer
(F):5'- GTCTAGCCTTACCATATAGTGGAG -3'
(R):5'- GGATGAACCATCCACATTCTAAATAC -3'
Posted On 2013-06-11