Incidental Mutation 'R5763:Brca2'
ID 446108
Institutional Source Beutler Lab
Gene Symbol Brca2
Ensembl Gene ENSMUSG00000041147
Gene Name breast cancer 2, early onset
Synonyms Fancd1, RAB163
MMRRC Submission 043364-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5763 (G1)
Quality Score 196
Status Validated
Chromosome 5
Chromosomal Location 150446095-150493794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 150471471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 2283 (F2283L)
Ref Sequence ENSEMBL: ENSMUSP00000144150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044620] [ENSMUST00000202313]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000044620
AA Change: F2283L

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038576
Gene: ENSMUSG00000041147
AA Change: F2283L

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: ENSMUST00000157857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201678
Predicted Effect possibly damaging
Transcript: ENSMUST00000202313
AA Change: F2283L

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144150
Gene: ENSMUSG00000041147
AA Change: F2283L

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 0.0788 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (70/72)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 A G 1: 130,670,768 (GRCm39) H330R possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Actl6b T A 5: 137,565,063 (GRCm39) L314Q possibly damaging Het
Adam22 A T 5: 8,184,544 (GRCm39) C483S probably damaging Het
Adamts7 T A 9: 90,070,462 (GRCm39) L601H probably damaging Het
Agl A T 3: 116,547,009 (GRCm39) D1280E probably damaging Het
Ankrd60 TGGCCACGCGG TGG 2: 173,419,882 (GRCm39) probably null Het
Astn2 T A 4: 65,647,568 (GRCm39) M757L probably benign Het
Atr A G 9: 95,827,176 (GRCm39) M2407V probably benign Het
Brwd1 A T 16: 95,835,043 (GRCm39) Y940* probably null Het
Camk2g A T 14: 20,789,415 (GRCm39) N218K probably damaging Het
Ces2a C T 8: 105,462,756 (GRCm39) P115L probably benign Het
Col11a1 T C 3: 113,888,245 (GRCm39) probably benign Het
Col1a2 T A 6: 4,515,682 (GRCm39) D150E unknown Het
Crybg3 A G 16: 59,374,973 (GRCm39) S2094P possibly damaging Het
Cttnbp2 T C 6: 18,414,298 (GRCm39) N916D probably benign Het
Ddx24 A G 12: 103,383,673 (GRCm39) F593L probably damaging Het
Dhx16 G A 17: 36,192,580 (GRCm39) E171K possibly damaging Het
Dnah5 T C 15: 28,311,298 (GRCm39) I1759T probably damaging Het
Dnah9 C A 11: 65,846,065 (GRCm39) S2991I probably damaging Het
Entpd7 G T 19: 43,692,705 (GRCm39) V87L probably damaging Het
Fam221a T G 6: 49,355,518 (GRCm39) L207V probably damaging Het
Foxm1 T A 6: 128,343,071 (GRCm39) I135N probably benign Het
Gabpa C A 16: 84,657,297 (GRCm39) Q391K possibly damaging Het
Gipr T A 7: 18,897,475 (GRCm39) H111L probably damaging Het
Gmip A G 8: 70,270,501 (GRCm39) D737G probably damaging Het
Herc6 T A 6: 57,639,872 (GRCm39) N995K probably damaging Het
Ldha G A 7: 46,497,213 (GRCm39) probably benign Het
Lrrc37 G A 11: 103,504,469 (GRCm39) P324S probably damaging Het
Masp1 T C 16: 23,314,997 (GRCm39) E88G probably damaging Het
Mical2 G A 7: 111,973,861 (GRCm39) probably null Het
Mill1 T A 7: 17,979,587 (GRCm39) V18E probably benign Het
Mrgpra3 A T 7: 47,239,355 (GRCm39) C190* probably null Het
Nog C T 11: 89,192,291 (GRCm39) V186M probably damaging Het
Nrxn2 T C 19: 6,581,369 (GRCm39) F392L probably benign Het
Or11h7 T C 14: 50,891,525 (GRCm39) I277T possibly damaging Het
Or12j3 T A 7: 139,953,568 (GRCm39) probably null Het
Or1e33 T A 11: 73,738,693 (GRCm39) Q86L probably benign Het
Or4a79 T A 2: 89,552,372 (GRCm39) M28L probably benign Het
Or7c74 T C 2: 37,161,025 (GRCm39) noncoding transcript Het
Phyhd1 T A 2: 30,169,983 (GRCm39) D158E probably damaging Het
Pik3r4 G T 9: 105,546,974 (GRCm39) K917N probably benign Het
Pnma1 A G 12: 84,194,124 (GRCm39) V193A possibly damaging Het
Podxl2 T C 6: 88,826,805 (GRCm39) E167G probably damaging Het
Prss50 A T 9: 110,691,517 (GRCm39) K82* probably null Het
Qsox1 A G 1: 155,655,625 (GRCm39) S513P probably benign Het
Rheb A G 5: 25,012,785 (GRCm39) V98A probably benign Het
Rhoj A G 12: 75,438,606 (GRCm39) I131V probably benign Het
Rsph4a A T 10: 33,781,684 (GRCm39) D178V probably damaging Het
Setd2 T G 9: 110,385,343 (GRCm39) probably null Het
Siglecf A T 7: 43,005,744 (GRCm39) K434* probably null Het
Slc14a1 T C 18: 78,159,629 (GRCm39) Y88C probably benign Het
Snx15 T C 19: 6,172,140 (GRCm39) E89G probably damaging Het
Son C T 16: 91,454,378 (GRCm39) R1042C probably damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Suz12 C A 11: 79,916,134 (GRCm39) Y457* probably null Het
Tet1 T A 10: 62,675,847 (GRCm39) N743I probably damaging Het
Tmc6 A G 11: 117,660,259 (GRCm39) F660L possibly damaging Het
Tnpo1 A C 13: 98,996,445 (GRCm39) I452S possibly damaging Het
Trav4-3 G T 14: 53,836,844 (GRCm39) G103V probably damaging Het
Ubap2 T C 4: 41,195,809 (GRCm39) K994E probably damaging Het
Vmn2r14 T C 5: 109,363,724 (GRCm39) T731A possibly damaging Het
Vmn2r52 T A 7: 9,905,231 (GRCm39) I203L probably benign Het
Zfp663 G T 2: 165,200,355 (GRCm39) S75* probably null Het
Zik1 G T 7: 10,226,293 (GRCm39) H25N probably benign 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
R0548:Brca2 UTSW 5 150,468,400 (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
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'- CCGTTTGCAAGTTCAGTATACTCG -3'
(R):5'- GGGCTTACATGCTAGTAGCTCAG -3'

Sequencing Primer
(F):5'- CAGTGTCTAACGTTTTGTG -3'
(R):5'- GCACACATTTCTAATTCATTC -3'
Posted On 2016-11-21