Incidental Mutation 'R2203:Brca2'
ID 238829
Institutional Source Beutler Lab
Gene Symbol Brca2
Ensembl Gene ENSMUSG00000041147
Gene Name breast cancer 2, early onset
Synonyms Fancd1, RAB163
MMRRC Submission 040205-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2203 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 150446095-150493794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 150462967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 910 (D910E)
Ref Sequence ENSEMBL: ENSMUSP00000144676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044620] [ENSMUST00000202003] [ENSMUST00000202313]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000044620
AA Change: D910E

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000038576
Gene: ENSMUSG00000041147
AA Change: D910E

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 possibly damaging
Transcript: ENSMUST00000202003
AA Change: D910E

PolyPhen 2 Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144676
Gene: ENSMUSG00000041147
AA Change: D910E

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 probably benign
Transcript: ENSMUST00000202313
AA Change: D910E

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000144150
Gene: ENSMUSG00000041147
AA Change: D910E

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: ENSMUST00000202975
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G A 4: 53,090,291 (GRCm39) T386I probably damaging Het
Abcc5 C G 16: 20,224,632 (GRCm39) L44F possibly damaging Het
Abi3bp T G 16: 56,433,566 (GRCm39) L550R probably benign Het
Cacna1h C T 17: 25,599,234 (GRCm39) A1742T probably damaging Het
Cartpt A T 13: 100,037,133 (GRCm39) S4T probably benign Het
Ccdc66 T A 14: 27,208,790 (GRCm39) D488V probably benign Het
Cdan1 C A 2: 120,551,241 (GRCm39) C1093F probably damaging Het
Cfap45 T C 1: 172,359,728 (GRCm39) V76A probably benign Het
Clptm1 G T 7: 19,367,817 (GRCm39) F598L possibly damaging Het
Cntrl G A 2: 35,033,749 (GRCm39) V257I possibly damaging Het
Cpa1 A G 6: 30,641,818 (GRCm39) D214G probably damaging Het
Crebbp A C 16: 3,956,641 (GRCm39) M394R possibly damaging Het
Ctnnd1 A G 2: 84,447,024 (GRCm39) L407P probably damaging Het
Cttnbp2 T G 6: 18,408,693 (GRCm39) D976A probably benign Het
Dicer1 C T 12: 104,697,297 (GRCm39) V87M possibly damaging Het
Elapor1 C T 3: 108,382,359 (GRCm39) G270E probably damaging Het
Fam184a T A 10: 53,528,530 (GRCm39) Q29L probably damaging Het
Flnc C T 6: 29,459,507 (GRCm39) P2536S probably damaging Het
Gapdh A T 6: 125,139,569 (GRCm39) S165T probably benign Het
Gm6370 T A 5: 146,430,539 (GRCm39) D241E probably benign Het
Grik4 T A 9: 42,458,951 (GRCm39) S596C probably damaging Het
Gtf2e1 T A 16: 37,331,904 (GRCm39) E390D possibly damaging Het
Hmgcr A G 13: 96,793,141 (GRCm39) L497P probably damaging Het
Hmgcs2 T A 3: 98,198,499 (GRCm39) I134N probably damaging Het
Htr5b T C 1: 121,455,693 (GRCm39) T76A probably damaging Het
Iars1 A G 13: 49,876,151 (GRCm39) E812G probably benign Het
Ints8 A T 4: 11,225,712 (GRCm39) M615K possibly damaging Het
Jmjd1c A G 10: 67,075,242 (GRCm39) probably null Het
Kcnj5 T C 9: 32,234,196 (GRCm39) T40A probably benign Het
Knstrn T A 2: 118,661,456 (GRCm39) probably null Het
Map2k2 T C 10: 80,955,213 (GRCm39) S14P probably damaging Het
Med26 T C 8: 73,249,746 (GRCm39) E451G probably damaging Het
Nbeal1 T A 1: 60,323,165 (GRCm39) M2081K probably benign Het
Nectin4 G A 1: 171,213,797 (GRCm39) V433M possibly damaging Het
Nop56 T A 2: 130,119,488 (GRCm39) I51N probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Nudt5 A T 2: 5,860,794 (GRCm39) I22F possibly damaging Het
Or4p23 C G 2: 88,576,953 (GRCm39) G93A probably benign Het
Pbrm1 A G 14: 30,754,406 (GRCm39) D142G possibly damaging Het
Pdcl A T 2: 37,242,056 (GRCm39) N231K probably benign Het
Pkd1 G T 17: 24,799,863 (GRCm39) A591S probably benign Het
Plcb4 T C 2: 135,844,514 (GRCm39) I144T probably benign Het
Prrc2b C A 2: 32,113,476 (GRCm39) Q1970K probably damaging Het
Rabep1 A C 11: 70,825,400 (GRCm39) E689A probably damaging Het
Ralgapa1 T C 12: 55,659,585 (GRCm39) probably null Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Saxo1 A C 4: 86,363,998 (GRCm39) Y162D probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sipa1l2 A T 8: 126,218,366 (GRCm39) W324R probably damaging Het
Slc19a1 T C 10: 76,877,758 (GRCm39) C98R possibly damaging Het
Slc26a8 G T 17: 28,866,981 (GRCm39) L583I probably benign Het
Spata31d1d A G 13: 59,879,435 (GRCm39) C34R possibly damaging Het
Stoml2 G T 4: 43,030,243 (GRCm39) Y119* probably null Het
Susd1 A G 4: 59,349,843 (GRCm39) L531P possibly damaging Het
Tnfsf14 T C 17: 57,497,638 (GRCm39) D198G possibly damaging Het
Ttc39a A G 4: 109,288,785 (GRCm39) N293S probably benign Het
Ttn T C 2: 76,601,985 (GRCm39) N18559S possibly damaging Het
Vmn2r104 A T 17: 20,250,083 (GRCm39) N729K probably benign Het
Zbtb47 A G 9: 121,591,703 (GRCm39) T8A possibly damaging Het
Zfp712 T A 13: 67,190,048 (GRCm39) T160S 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
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'- AACTCTGAAGAACTTTTCCCAGAC -3'
(R):5'- AGCTGTTCTGAAGCTACCTCC -3'

Sequencing Primer
(F):5'- CCAGACAGTGGGAATAATTTTGC -3'
(R):5'- GGATCCAAGAACTCTGACCATTTGTC -3'
Posted On 2014-10-02