Mutagenetix > Incidental Mutation

Incidental Mutation 'R8401:Brca2'

652186

Institutional Source

Beutler Lab

Gene Symbol

Brca2

Ensembl Gene

ENSMUSG00000041147

Gene Name

breast cancer 2, early onset

Synonyms

Fancd1, RAB163

MMRRC Submission

067877-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8401 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150446095-150493794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 150475817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 2509 (I2509N)

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: I2509N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038576
Gene: ENSMUSG00000041147
AA Change: I2509N

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000202313
AA Change: I2509N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144150
Gene: ENSMUSG00000041147
AA Change: I2509N

Domain	Start	End	E-Value	Type
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: 99.7%
20x: 99.3%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	T	C	14: 31,467,251 (GRCm39)	Y207C	probably damaging	Het
Ano8	T	C	8: 71,936,011 (GRCm39)	D235G	probably damaging	Het
Atp2b4	T	A	1: 133,659,574 (GRCm39)	I463F	probably damaging	Het
Brinp3	T	C	1: 146,777,184 (GRCm39)	S544P	probably benign	Het
Chd1	A	G	17: 15,963,473 (GRCm39)	Y824C	probably damaging	Het
Dapk1	T	C	13: 60,870,904 (GRCm39)	V330A	probably benign	Het
Dct	T	C	14: 118,280,615 (GRCm39)	T134A	possibly damaging	Het
Ddx56	T	C	11: 6,214,199 (GRCm39)	D350G	probably damaging	Het
Ddx60	C	T	8: 62,409,277 (GRCm39)	L438F	possibly damaging	Het
Dnah17	T	A	11: 117,915,485 (GRCm39)	K4378M	probably damaging	Het
Drc7	C	T	8: 95,800,763 (GRCm39)	S595F	probably benign	Het
Epb41	C	T	4: 131,702,018 (GRCm39)	R539Q	probably damaging	Het
Foxred2	T	C	15: 77,836,191 (GRCm39)	I389V	probably damaging	Het
Gan	C	A	8: 117,910,242 (GRCm39)	T57K	possibly damaging	Het
Glra3	T	C	8: 56,542,124 (GRCm39)	V289A	probably damaging	Het
Grk1	T	C	8: 13,457,846 (GRCm39)	F249L	probably damaging	Het
Grk6	G	A	13: 55,599,981 (GRCm39)	A258T	possibly damaging	Het
Hars1	T	C	18: 36,904,243 (GRCm39)	N212S	possibly damaging	Het
Ikzf2	C	A	1: 69,578,254 (GRCm39)	Q418H	probably damaging	Het
Ikzf2	T	G	1: 69,578,255 (GRCm39)	Q418P	probably damaging	Het
Klre1	T	A	6: 129,556,989 (GRCm39)	N30K	probably benign	Het
Lama5	G	T	2: 179,840,580 (GRCm39)	D606E	probably damaging	Het
Lca5l	T	C	16: 95,963,760 (GRCm39)	K393R	probably damaging	Het
Lmbrd2	A	T	15: 9,156,294 (GRCm39)	I124F	possibly damaging	Het
Loxhd1	C	A	18: 77,468,156 (GRCm39)	P935T	probably damaging	Het
Nes	T	C	3: 87,885,388 (GRCm39)	S1216P	possibly damaging	Het
Nim1k	A	G	13: 120,174,213 (GRCm39)	L227P	probably damaging	Het
Nkx2-1	C	A	12: 56,579,841 (GRCm39)	L366F	probably damaging	Het
Nol6	C	A	4: 41,119,548 (GRCm39)	R586L	possibly damaging	Het
Ogdh	T	A	11: 6,247,174 (GRCm39)	L66*	probably null	Het
Or2b28	A	T	13: 21,531,997 (GRCm39)	I300L	probably benign	Het
Orm3	A	G	4: 63,274,467 (GRCm39)	S11G	possibly damaging	Het
Pkn3	C	A	2: 29,970,071 (GRCm39)	S126R	probably benign	Het
Pnpla8	T	A	12: 44,335,091 (GRCm39)	D442E	probably damaging	Het
Pop1	A	T	15: 34,508,755 (GRCm39)	T277S	probably damaging	Het
Prkag2	T	C	5: 25,068,868 (GRCm39)	T563A	probably benign	Het
Prkdc	T	A	16: 15,591,477 (GRCm39)	F2652I	possibly damaging	Het
Prok1	A	G	3: 107,144,513 (GRCm39)	I30T	probably benign	Het
Prr9	T	G	3: 92,030,356 (GRCm39)	T95P	possibly damaging	Het
Ptgds	A	G	2: 25,359,669 (GRCm39)	M6T	unknown	Het
Rnaseh2b	T	A	14: 62,607,938 (GRCm39)	D250E	probably benign	Het
Rundc1	C	T	11: 101,324,383 (GRCm39)	T363M	probably damaging	Het
Ryr2	T	A	13: 11,683,821 (GRCm39)	H3081L	possibly damaging	Het
Setmar	T	C	6: 108,053,124 (GRCm39)	I206T	probably benign	Het
Skic8	A	T	9: 54,635,539 (GRCm39)	S21T	probably benign	Het
Slitrk6	A	G	14: 110,989,453 (GRCm39)	S85P	possibly damaging	Het
Spi1	A	G	2: 90,943,650 (GRCm39)	N65D	probably benign	Het
Stx1b	A	T	7: 127,406,945 (GRCm39)		probably benign	Het
Trav5-4	G	A	14: 53,941,750 (GRCm39)	S41N	probably benign	Het
Tspan14	T	C	14: 40,630,049 (GRCm39)	D260G	probably benign	Het
Ube4a	T	C	9: 44,852,527 (GRCm39)	D645G	possibly damaging	Het
Ush2a	C	T	1: 188,275,062 (GRCm39)	T1845I	probably benign	Het
Vps18	T	C	2: 119,127,973 (GRCm39)	L932P	probably damaging	Het
Zfp62	T	A	11: 49,108,218 (GRCm39)	C770S	probably damaging	Het
Zfp672	T	C	11: 58,207,628 (GRCm39)	K231R	probably benign	Het

Other mutations in Brca2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- ATCCTCCTGGGCCAGTTAACTG -3'
(R):5'- TGGGAGAATACCATAAGGCAAATTC -3'

Sequencing Primer
(F):5'- CCTGGGCCAGTTAACTGTTCTATAG -3'
(R):5'- GGCAAATTCAAATTCAACTTTCTCCC -3'

Posted On

2020-10-20