Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01577:Brca2'

91299

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Brca2

Ensembl Gene

ENSMUSG00000041147

Gene Name

breast cancer 2, early onset

Synonyms

Fancd1, RAB163

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01577

Quality Score

Status

Chromosome

Chromosomal Location

150446095-150493794 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 150465085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 1616 (C1616*)

Ref Sequence

ENSEMBL: ENSMUSP00000144150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044620] [ENSMUST00000202003] [ENSMUST00000202313]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000044620
AA Change: C1616*

SMART Domains

Protein: ENSMUSP00000038576
Gene: ENSMUSG00000041147
AA Change: C1616*

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

probably null
Transcript: ENSMUST00000202313
AA Change: C1616*

SMART Domains

Protein: ENSMUSP00000144150
Gene: ENSMUSG00000041147
AA Change: C1616*

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

Coding Region Coverage

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	G	14: 29,709,232 (GRCm39)	T279A	probably benign	Het
Adamts9	T	G	6: 92,835,128 (GRCm39)		probably benign	Het
Apba3	G	A	10: 81,108,053 (GRCm39)	G403D	probably damaging	Het
Atp13a4	C	T	16: 29,260,102 (GRCm39)	V235I	possibly damaging	Het
Ccdc7a	T	A	8: 129,715,244 (GRCm39)	E280V	probably damaging	Het
Cdc42bpb	A	G	12: 111,268,477 (GRCm39)	I1241T	possibly damaging	Het
Cplx4	G	T	18: 66,103,015 (GRCm39)	A35E	probably damaging	Het
Cyp2j8	T	G	4: 96,367,308 (GRCm39)	D270A	probably damaging	Het
Cyp7a1	T	C	4: 6,273,618 (GRCm39)	D96G	probably damaging	Het
Ddx11	G	A	17: 66,446,398 (GRCm39)	R429H	possibly damaging	Het
Depdc5	C	A	5: 33,113,241 (GRCm39)	T419N	possibly damaging	Het
Diaph3	A	C	14: 87,143,467 (GRCm39)	I737R	probably damaging	Het
Elf2	C	T	3: 51,163,773 (GRCm39)		probably benign	Het
Epha6	T	A	16: 59,777,289 (GRCm39)	I673L	possibly damaging	Het
Ephx1	A	G	1: 180,829,545 (GRCm39)	M1T	probably null	Het
Fndc3a	A	T	14: 72,827,298 (GRCm39)	M84K	probably damaging	Het
Gad2	T	C	2: 22,571,292 (GRCm39)		probably benign	Het
Gba2	G	A	4: 43,573,753 (GRCm39)	Q180*	probably null	Het
Gga2	A	G	7: 121,589,006 (GRCm39)	Y574H	probably damaging	Het
Gm7168	A	T	17: 14,169,649 (GRCm39)	R339W	probably damaging	Het
Hdac10	T	C	15: 89,010,416 (GRCm39)	E302G	possibly damaging	Het
Ighv1-72	A	G	12: 115,721,893 (GRCm39)	V21A	possibly damaging	Het
Kif15	A	G	9: 122,825,399 (GRCm39)	E774G	probably benign	Het
Lig3	A	G	11: 82,674,303 (GRCm39)	N43S	probably benign	Het
Nmnat1	T	A	4: 149,554,135 (GRCm39)	D135V	possibly damaging	Het
Or1s2	A	G	19: 13,758,162 (GRCm39)	Y62C	probably damaging	Het
Or52n2	A	G	7: 104,542,730 (GRCm39)	F35S	probably benign	Het
Pak6	A	C	2: 118,524,129 (GRCm39)	K428T	probably benign	Het
Pou2f3	G	A	9: 43,058,178 (GRCm39)	Q56*	probably null	Het
Prep	T	C	10: 44,948,144 (GRCm39)		probably benign	Het
Psd4	C	T	2: 24,293,234 (GRCm39)	P700S	probably damaging	Het
Rad18	A	T	6: 112,642,302 (GRCm39)		probably benign	Het
Rbbp5	A	G	1: 132,420,393 (GRCm39)	K209E	possibly damaging	Het
Smurf1	G	A	5: 144,829,998 (GRCm39)	T335I	probably damaging	Het
Tbcd	G	A	11: 121,387,838 (GRCm39)	R72Q	probably damaging	Het
Tsga10	T	C	1: 37,874,538 (GRCm39)	T116A	possibly damaging	Het
Unc80	A	G	1: 66,569,127 (GRCm39)		probably null	Het
Vmn1r87	C	A	7: 12,865,775 (GRCm39)	V171F	probably benign	Het
Ythdc2	A	T	18: 44,991,349 (GRCm39)	M786L	probably benign	Het
Zmym6	C	A	4: 126,999,223 (GRCm39)	T469K	probably damaging	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
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
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

Posted On

2013-12-09