Incidental Mutation 'R6856:Brca2'
ID 535249
Institutional Source Beutler Lab
Gene Symbol Brca2
Ensembl Gene ENSMUSG00000041147
Gene Name breast cancer 2, early onset
Synonyms Fancd1, RAB163
MMRRC Submission 044958-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6856 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 150446095-150493794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 150463673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 1146 (H1146N)
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: H1146N

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038576
Gene: ENSMUSG00000041147
AA Change: H1146N

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: H1146N

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144150
Gene: ENSMUSG00000041147
AA Change: H1146N

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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A G 3: 151,205,755 (GRCm39) M156V probably benign Het
Aire A T 10: 77,866,089 (GRCm39) F546I probably damaging Het
Ankk1 T C 9: 49,331,320 (GRCm39) E230G probably benign Het
Anp32a A T 9: 62,279,397 (GRCm39) K86N possibly damaging Het
Aqp4 T C 18: 15,532,953 (GRCm39) I47V possibly damaging Het
Arap3 A G 18: 38,112,916 (GRCm39) V1098A possibly damaging Het
Ascc3 T A 10: 50,625,158 (GRCm39) W1652R probably damaging Het
Atad2 T A 15: 57,970,209 (GRCm39) H464L probably damaging Het
Capn9 G A 8: 125,324,308 (GRCm39) V203M probably damaging Het
Ccr6 T A 17: 8,474,881 (GRCm39) S29T probably benign Het
Cfap99 G T 5: 34,467,561 (GRCm39) probably null Het
Cpt1c C T 7: 44,609,342 (GRCm39) G716S probably damaging Het
Dhx29 A T 13: 113,089,395 (GRCm39) Q722L probably benign Het
Dmxl1 C T 18: 49,985,355 (GRCm39) R201* probably null Het
Dsg2 G A 18: 20,734,859 (GRCm39) G946S probably damaging Het
Erg C A 16: 95,169,510 (GRCm39) probably null Het
Fbxo32 G A 15: 58,078,037 (GRCm39) probably benign Het
Gask1b G T 3: 79,793,448 (GRCm39) probably benign Het
Glis1 T G 4: 107,293,076 (GRCm39) D66E probably damaging Het
Grm6 A T 11: 50,750,652 (GRCm39) N605I probably damaging Het
Gtf3c6 T C 10: 40,125,668 (GRCm39) E183G probably benign Het
Herc1 A G 9: 66,305,180 (GRCm39) M861V probably benign Het
Igkv12-41 A T 6: 69,835,513 (GRCm39) S80T probably damaging Het
Itprid2 C T 2: 79,488,049 (GRCm39) R711C probably damaging Het
Kcnt2 T C 1: 140,523,742 (GRCm39) S1057P probably damaging Het
Krt36 T G 11: 99,994,216 (GRCm39) Q287P probably damaging Het
Ldhd A G 8: 112,356,906 (GRCm39) S13P probably benign Het
Lmtk3 T A 7: 45,443,721 (GRCm39) probably benign Het
Lrp2 A T 2: 69,343,612 (GRCm39) F916I probably damaging Het
Map4k1 A T 7: 28,686,259 (GRCm39) I92F probably damaging Het
Naa25 A T 5: 121,576,867 (GRCm39) K872M probably damaging Het
Nek3 C A 8: 22,619,463 (GRCm39) G443V probably damaging Het
Noxred1 T C 12: 87,273,810 (GRCm39) E77G probably benign Het
Nup210 G A 6: 91,064,895 (GRCm39) Q202* probably null Het
Or52d1 A T 7: 103,755,998 (GRCm39) M171L probably benign Het
Or8k27 G T 2: 86,276,251 (GRCm39) S25Y probably benign Het
Pax3 A G 1: 78,109,056 (GRCm39) S201P probably damaging Het
Pcdhgb5 T A 18: 37,866,457 (GRCm39) Y751N probably benign Het
Pign A T 1: 105,481,620 (GRCm39) L792* probably null Het
Pkd1 T C 17: 24,792,467 (GRCm39) F1385L probably benign Het
Plxnb2 A C 15: 89,048,523 (GRCm39) C629G probably benign Het
Prpsap2 A T 11: 61,621,097 (GRCm39) I328N probably benign Het
Prrc2c A G 1: 162,509,940 (GRCm39) L2317P probably damaging Het
Ptgfrn T C 3: 100,952,762 (GRCm39) D824G probably damaging Het
Ptpra G A 2: 130,361,301 (GRCm39) S204N probably damaging Het
Pygm G T 19: 6,443,787 (GRCm39) G583C probably damaging Het
Rap1a A G 3: 105,639,384 (GRCm39) F92L probably damaging Het
Slmap A T 14: 26,151,247 (GRCm39) probably null Het
Spdye4c A G 2: 128,438,050 (GRCm39) probably null Het
Speer4a3 A G 5: 26,155,843 (GRCm39) I167T probably benign Het
Stk11 C A 10: 79,963,924 (GRCm39) F97L probably benign Het
Tbc1d9b G A 11: 50,059,573 (GRCm39) A992T probably benign Het
Tmem232 G A 17: 65,757,305 (GRCm39) T296M possibly damaging Het
Trim33 C T 3: 103,259,365 (GRCm39) T1018M probably damaging Het
Trpv2 A C 11: 62,475,441 (GRCm39) I285L probably benign Het
Usp46 A G 5: 74,189,595 (GRCm39) probably benign Het
Vmn1r27 T A 6: 58,192,432 (GRCm39) M191L possibly damaging Het
Vwf G T 6: 125,619,113 (GRCm39) E1264* probably null Het
Zfp109 A T 7: 23,928,823 (GRCm39) N195K probably benign Het
Zfp385b T A 2: 77,246,138 (GRCm39) L208F probably damaging Het
Zfp839 T A 12: 110,833,195 (GRCm39) Y515* 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
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'- CTGACACAGCACCTCAGATG -3'
(R):5'- ACTAAGTTTTGTGCCAAGAGC -3'

Sequencing Primer
(F):5'- GCACCTCAGATGTTATCTTCAAAGC -3'
(R):5'- GCCAAGAGCAGAACAAAATCCTC -3'
Posted On 2018-09-12