Mutagenetix > Incidental Mutation

Incidental Mutation 'R4255:Brca2'

321778

Institutional Source

Beutler Lab

Gene Symbol

Brca2

Ensembl Gene

ENSMUSG00000041147

Gene Name

breast cancer 2, early onset

Synonyms

Fancd1, RAB163

MMRRC Submission

041068-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4255 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150446095-150493794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150464634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1466 (E1466G)

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: E1466G

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038576
Gene: ENSMUSG00000041147
AA Change: E1466G

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: E1466G

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144150
Gene: ENSMUSG00000041147
AA Change: E1466G

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

93% (50/54)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,136,949 (GRCm39)	I171V	probably benign	Het
Actc1	T	C	2: 113,879,697 (GRCm39)	N254S	probably benign	Het
Adgrg1	T	G	8: 95,732,530 (GRCm39)		probably null	Het
Ankrd7	T	A	6: 18,869,880 (GRCm39)		probably null	Het
Baz2b	T	C	2: 59,750,916 (GRCm39)		probably benign	Het
Dagla	G	A	19: 10,234,316 (GRCm39)	R332*	probably null	Het
Dnah5	T	A	15: 28,438,248 (GRCm39)	S3960T	probably benign	Het
Dnhd1	T	A	7: 105,362,205 (GRCm39)	L3689M	probably damaging	Het
Epn1	T	A	7: 5,100,637 (GRCm39)	L530Q	probably damaging	Het
Fgf17	C	A	14: 70,879,162 (GRCm39)		probably null	Het
Fgfr4	G	A	13: 55,314,064 (GRCm39)	V593M	probably damaging	Het
Fmo4	A	G	1: 162,621,895 (GRCm39)	C439R	probably benign	Het
Fndc3b	T	C	3: 27,555,556 (GRCm39)	K333E	possibly damaging	Het
Gpc6	A	G	14: 118,188,553 (GRCm39)	T396A	probably benign	Het
Igkv3-2	T	A	6: 70,676,045 (GRCm39)	V118D	probably benign	Het
Mtbp	C	A	15: 55,484,081 (GRCm39)	S470R	possibly damaging	Het
Myh8	A	G	11: 67,190,560 (GRCm39)	D1295G	probably benign	Het
Myo1h	T	C	5: 114,468,198 (GRCm39)	I331T	possibly damaging	Het
Myo7a	T	G	7: 97,721,171 (GRCm39)	M1265L	probably damaging	Het
Or13a18	C	A	7: 140,190,500 (GRCm39)	Y132*	probably null	Het
Or2ak7	A	T	11: 58,574,791 (GRCm39)	I31F	probably damaging	Het
Or2o1	G	A	11: 49,051,262 (GRCm39)	W140*	probably null	Het
Pak1ip1	A	G	13: 41,164,632 (GRCm39)		probably benign	Het
Pcdha11	A	G	18: 37,145,843 (GRCm39)	T645A	probably benign	Het
Peg12	A	G	7: 62,113,479 (GRCm39)	I206T	possibly damaging	Het
Pkhd1	A	G	1: 20,664,158 (GRCm39)	V140A	probably damaging	Het
Pramel29	T	A	4: 143,934,054 (GRCm39)	D351V	possibly damaging	Het
Prrc2c	C	A	1: 162,533,895 (GRCm39)		probably benign	Het
Ptprk	A	G	10: 28,082,241 (GRCm39)	E70G	probably benign	Het
Rabl6	C	T	2: 25,474,791 (GRCm39)	E640K	possibly damaging	Het
Rasd2	G	A	8: 75,948,538 (GRCm39)	E155K	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sdf4	A	G	4: 156,085,214 (GRCm39)	H183R	probably benign	Het
Slc12a9	C	T	5: 137,319,694 (GRCm39)	R607H	probably damaging	Het
Slc38a1	T	C	15: 96,483,431 (GRCm39)	D299G	probably benign	Het
Slc4a10	A	G	2: 62,112,280 (GRCm39)	N657S	probably benign	Het
Spata31d1c	C	G	13: 65,183,502 (GRCm39)	S348*	probably null	Het
Spata31d1c	T	C	13: 65,183,531 (GRCm39)	F358L	probably benign	Het
Srbd1	A	T	17: 86,410,350 (GRCm39)	S527R	possibly damaging	Het
Stag3	T	C	5: 138,289,143 (GRCm39)	V243A	probably damaging	Het
Tefm	A	T	11: 80,031,075 (GRCm39)	S54T	probably damaging	Het
Terf1	T	C	1: 15,875,903 (GRCm39)	M1T	probably null	Het
Thsd7b	G	A	1: 129,688,024 (GRCm39)	S645N	possibly damaging	Het
Trmt13	G	T	3: 116,376,337 (GRCm39)	S285*	probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ush2a	C	T	1: 188,492,040 (GRCm39)	R3110*	probably null	Het
Vnn3	T	C	10: 23,741,720 (GRCm39)	Y342H	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
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'- TCCTTTCAGACTGCAAGTGGG -3'
(R):5'- GATCCTTGACTAAAACTGGCAG -3'

Sequencing Primer
(F):5'- TGGGAAAAATACCAGAGTCTCC -3'
(R):5'- GGCAGTTTTCCTAACATATTGTGTC -3'

Posted On

2015-06-20