Incidental Mutation 'R8845:Brca2'
ID 674650
Institutional Source Beutler Lab
Gene Symbol Brca2
Ensembl Gene ENSMUSG00000041147
Gene Name breast cancer 2, early onset
Synonyms Fancd1, RAB163
MMRRC Submission 068734-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8845 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 150446095-150493794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 150466847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 2204 (F2204L)
Ref Sequence ENSEMBL: ENSMUSP00000144150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044620] [ENSMUST00000202003] [ENSMUST00000202313]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000044620
AA Change: F2204L

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038576
Gene: ENSMUSG00000041147
AA Change: F2204L

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 probably benign
Transcript: ENSMUST00000202003
SMART Domains Protein: ENSMUSP00000144676
Gene: ENSMUSG00000041147

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000202313
AA Change: F2204L

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144150
Gene: ENSMUSG00000041147
AA Change: F2204L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 C T 7: 119,846,428 (GRCm39) P627S probably benign Het
Abca4 G A 3: 121,930,651 (GRCm39) V1383M probably damaging Het
Acer3 A G 7: 97,910,832 (GRCm39) S77P probably damaging Het
Adgrv1 G T 13: 81,629,478 (GRCm39) T3640N possibly damaging Het
Agmo T C 12: 37,294,364 (GRCm39) L104P probably benign Het
Alox12 C A 11: 70,137,877 (GRCm39) G421V probably damaging Het
Atad2 A G 15: 57,989,532 (GRCm39) V182A probably damaging Het
Bnc2 C T 4: 84,194,338 (GRCm39) A929T possibly damaging Het
Bola3 T C 6: 83,335,154 (GRCm39) M83T probably damaging Het
Cachd1 T C 4: 100,810,343 (GRCm39) V315A probably benign Het
Ccdc154 C A 17: 25,390,138 (GRCm39) N547K probably damaging Het
Ccdc62 C A 5: 124,092,470 (GRCm39) T485K probably benign Het
Cdc40 G A 10: 40,717,790 (GRCm39) T371I possibly damaging Het
Cep112 T C 11: 108,461,193 (GRCm39) F657L probably damaging Het
Cirbp A G 10: 80,005,931 (GRCm39) D62G probably damaging Het
Cntf A C 19: 12,741,664 (GRCm39) S65R probably benign Het
Cxxc4 CGGC CGGCGGGGGC 3: 133,945,912 (GRCm39) probably benign Het
Cyfip1 G T 7: 55,579,834 (GRCm39) G1229V probably benign Het
Cyp4a30b A C 4: 115,315,493 (GRCm39) N238T probably benign Het
Dbx2 G A 15: 95,552,517 (GRCm39) R43C probably benign Het
Efcab3 A T 11: 104,899,787 (GRCm39) I4350F possibly damaging Het
Fbxw13 G T 9: 109,023,833 (GRCm39) F70L possibly damaging Het
Fhod3 A G 18: 25,265,976 (GRCm39) T1555A probably damaging Het
Fnbp4 A G 2: 90,606,368 (GRCm39) M763V probably benign Het
Gdf7 A G 12: 8,348,905 (GRCm39) S131P unknown Het
Gm9938 A T 19: 23,701,941 (GRCm39) E93V unknown Het
Golim4 A T 3: 75,802,272 (GRCm39) M340K probably damaging Het
Gphn A G 12: 78,538,953 (GRCm39) S200G probably benign Het
Hpse T C 5: 100,859,248 (GRCm39) D99G probably benign Het
Iqgap2 A T 13: 95,794,392 (GRCm39) N1193K possibly damaging Het
Jag2 A T 12: 112,883,714 (GRCm39) C256S probably damaging Het
Ldb3 T C 14: 34,258,634 (GRCm39) Y657C probably damaging Het
Lmtk2 T A 5: 144,110,704 (GRCm39) Y475N probably damaging Het
Mep1b A T 18: 21,230,379 (GRCm39) K644* probably null Het
Muc4 A C 16: 32,576,889 (GRCm39) T60P possibly damaging Het
Nckap5 G T 1: 125,909,423 (GRCm39) Q1603K possibly damaging Het
Npy6r C T 18: 44,408,606 (GRCm39) T9I probably benign Het
Nsd2 T C 5: 34,039,885 (GRCm39) C846R probably damaging Het
Oard1 A C 17: 48,721,259 (GRCm39) K64Q probably benign Het
Or4c103 T A 2: 88,513,735 (GRCm39) I114F possibly damaging Het
Or52e19b A T 7: 103,032,357 (GRCm39) V284D probably damaging Het
Or5w8 G T 2: 87,687,545 (GRCm39) V9L probably benign Het
Or6c208 A G 10: 129,224,065 (GRCm39) T188A probably damaging Het
Pkhd1l1 T G 15: 44,368,650 (GRCm39) S823A probably benign Het
Pla2r1 A G 2: 60,259,053 (GRCm39) S1112P possibly damaging Het
Plekho2 T C 9: 65,465,963 (GRCm39) T142A probably damaging Het
Prr35 A T 17: 26,165,823 (GRCm39) V488E probably benign Het
Prrc2b T A 2: 32,102,105 (GRCm39) M726K possibly damaging Het
Prrc2b A T 2: 32,106,162 (GRCm39) K1514I possibly damaging Het
Rin1 A T 19: 5,104,947 (GRCm39) D669V probably damaging Het
Setd1b C T 5: 123,282,310 (GRCm39) A146V unknown Het
Sigmar1 G A 4: 41,741,234 (GRCm39) R7W probably damaging Het
Slain1 C T 14: 103,925,747 (GRCm39) T365I possibly damaging Het
Slc38a2 G A 15: 96,592,900 (GRCm39) T186I probably benign Het
Tas2r130 A T 6: 131,607,642 (GRCm39) V51E probably benign Het
Tgfb1i1 A T 7: 127,851,690 (GRCm39) H332L possibly damaging Het
Trav7n-4 T C 14: 53,328,846 (GRCm39) L15S probably damaging Het
Ttc28 T C 5: 111,372,041 (GRCm39) V861A probably benign Het
Ttn A G 2: 76,632,658 (GRCm39) I14132T probably damaging Het
Ttn T C 2: 76,606,380 (GRCm39) E18143G probably damaging Het
Vmn1r203 C T 13: 22,708,720 (GRCm39) S167L possibly damaging Het
Vmn2r108 A T 17: 20,691,361 (GRCm39) H387Q probably benign Het
Vps33a A T 5: 123,709,538 (GRCm39) probably null Het
Vps50 G A 6: 3,504,926 (GRCm39) V31I probably benign Het
Wdcp A G 12: 4,901,439 (GRCm39) T432A probably benign Het
Wdr36 T A 18: 32,994,098 (GRCm39) Y645* probably null 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
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
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'- CCCATAGTAAGGCTAATCTTTTGGG -3'
(R):5'- CTGTCTTCTAAACTCCACAGGG -3'

Sequencing Primer
(F):5'- GAAAAGAACAAACTTTACCCCAAAAC -3'
(R):5'- CTTGAGAGAGACCAGTAGA -3'
Posted On 2021-07-15