Mutagenetix > Incidental Mutation

Incidental Mutation 'R6141:Brca2'

488574

Institutional Source

Beutler Lab

Gene Symbol

Brca2

Ensembl Gene

ENSMUSG00000041147

Gene Name

breast cancer 2, early onset

Synonyms

Fancd1, RAB163

MMRRC Submission

044288-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6141 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150446095-150493794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150464102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 1289 (N1289D)

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: N1289D

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038576
Gene: ENSMUSG00000041147
AA Change: N1289D

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 benign
Transcript: ENSMUST00000202003

SMART Domains

Protein: ENSMUSP00000144676
Gene: ENSMUSG00000041147

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202313
AA Change: N1289D

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144150
Gene: ENSMUSG00000041147
AA Change: N1289D

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

noncoding transcript
Transcript: ENSMUST00000202975

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	A	T	7: 42,097,483 (GRCm39)	C4S	probably damaging	Het
Abhd5	A	T	9: 122,206,998 (GRCm39)	T95S	probably benign	Het
Ambra1	A	T	2: 91,706,099 (GRCm39)	N795Y	probably damaging	Het
Cavin2	T	C	1: 51,340,097 (GRCm39)	L258P	probably damaging	Het
Ccdc110	A	G	8: 46,394,807 (GRCm39)	T233A	possibly damaging	Het
Ccdc14	T	A	16: 34,526,932 (GRCm39)	I279N	probably damaging	Het
Cntn5	A	T	9: 10,144,162 (GRCm39)	L169Q	probably benign	Het
Dbf4	T	C	5: 8,458,545 (GRCm39)	S157G	possibly damaging	Het
Defb22	A	T	2: 152,327,722 (GRCm39)	N154K	unknown	Het
Eepd1	T	A	9: 25,394,280 (GRCm39)	D181E	probably benign	Het
Etfa	T	C	9: 55,372,103 (GRCm39)	H286R	probably damaging	Het
Gm44419	T	A	6: 65,127,940 (GRCm39)		noncoding transcript	Het
Gpatch4	C	T	3: 87,962,047 (GRCm39)	R155*	probably null	Het
Grik1	T	G	16: 87,693,760 (GRCm39)	R862S	probably benign	Het
Hectd1	A	C	12: 51,792,875 (GRCm39)		probably null	Het
Ift122	T	C	6: 115,892,972 (GRCm39)	W919R	probably damaging	Het
Iqgap2	A	T	13: 95,858,194 (GRCm39)		probably null	Het
Kcnq4	A	T	4: 120,573,066 (GRCm39)	I245N	probably damaging	Het
Map3k3	G	T	11: 105,987,874 (GRCm39)	R21L	probably benign	Het
Mllt10	T	C	2: 18,215,604 (GRCm39)	V1063A	probably damaging	Het
Msr1	A	T	8: 40,084,360 (GRCm39)	V65E	probably damaging	Het
Myom2	A	T	8: 15,113,903 (GRCm39)	D17V	probably damaging	Het
Naaladl1	T	A	19: 6,159,785 (GRCm39)		probably null	Het
Naip6	T	C	13: 100,444,741 (GRCm39)	Y239C	possibly damaging	Het
Nckap1	C	A	2: 80,360,551 (GRCm39)	D533Y	probably damaging	Het
Ndufs2	T	C	1: 171,064,185 (GRCm39)	E375G	probably damaging	Het
Nsd1	T	C	13: 55,439,097 (GRCm39)	V1605A	probably damaging	Het
Or4k42	A	G	2: 111,320,464 (GRCm39)	I13T	probably benign	Het
Or52ae9	C	A	7: 103,389,994 (GRCm39)	R151L	probably damaging	Het
Or5ac17	T	A	16: 59,036,916 (GRCm39)	H20L	probably benign	Het
Or5b114-ps1	A	T	19: 13,352,647 (GRCm39)	Y107F	probably benign	Het
Or7e176	T	A	9: 20,171,754 (GRCm39)	M206K	probably benign	Het
Pcp2	G	A	8: 3,673,543 (GRCm39)		probably null	Het
Pdgfra	A	G	5: 75,334,057 (GRCm39)	S377G	probably damaging	Het
Reep5	A	T	18: 34,505,511 (GRCm39)	Y53*	probably null	Het
Ric1	T	C	19: 29,572,842 (GRCm39)	S761P	probably damaging	Het
Satb1	T	C	17: 52,082,404 (GRCm39)	T417A	possibly damaging	Het
Slc1a7	T	A	4: 107,859,379 (GRCm39)	M156K	possibly damaging	Het
Slc4a10	A	G	2: 62,041,789 (GRCm39)	E123G	probably damaging	Het
Slc66a1	A	G	4: 139,027,556 (GRCm39)	V262A	probably benign	Het
Snupn	C	A	9: 56,890,108 (GRCm39)	Q310K	possibly damaging	Het
Stard13	A	T	5: 150,965,707 (GRCm39)	V916E	probably damaging	Het
Tlr1	T	C	5: 65,082,556 (GRCm39)	R674G	possibly damaging	Het
Tnfsf11	A	G	14: 78,545,299 (GRCm39)	Y11H	probably damaging	Het
Tnr	T	A	1: 159,714,692 (GRCm39)	V857E	probably benign	Het
Tubgcp5	A	G	7: 55,456,526 (GRCm39)	I373V	probably benign	Het
Ush2a	A	T	1: 188,090,160 (GRCm39)	R414S	possibly damaging	Het
Vmn2r100	T	C	17: 19,742,576 (GRCm39)	S317P	probably benign	Het
Wdr49	A	T	3: 75,230,989 (GRCm39)	F558I	probably benign	Het
Zfyve16	A	G	13: 92,648,105 (GRCm39)	I983T	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
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'- GGCTCTGAGAAAAGCTATGAAACTG -3'
(R):5'- CATGACTCAGGACACTTACTGCC -3'

Sequencing Primer
(F):5'- AATAGTGAGGAGCCTTCTGC -3'
(R):5'- CCTTGATCGGCAGGTAAATCACTG -3'

Posted On

2017-10-10