Mutagenetix > Incidental Mutations

Incidental Mutation 'R5877:Brca2'

455595

Institutional Source

Beutler Lab

Gene Symbol

Brca2

Ensembl Gene

ENSMUSG00000041147

Gene Name

breast cancer 2, early onset

Synonyms

Fancd1, RAB163

MMRRC Submission

044083-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150522630-150570329 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150543221 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 2150 (M2150T)

Ref Sequence

ENSEMBL: ENSMUSP00000144150 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044620
AA Change: M2150T

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038576
Gene: ENSMUSG00000041147
AA Change: M2150T

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: ENSMUST00000180345

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: M2150T

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144150
Gene: ENSMUSG00000041147
AA Change: M2150T

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

97% (68/70)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030462N17Rik	G	T	18: 77,643,206		probably null	Het
Adam6b	A	T	12: 113,490,202	H213L	probably damaging	Het
Alk	A	G	17: 71,967,526	W597R	probably damaging	Het
Ash1l	G	A	3: 88,981,584	V257I	probably benign	Het
Atp9b	C	T	18: 80,752,789	V957I	probably benign	Het
Birc3	A	C	9: 7,849,346	C576G	probably damaging	Het
C3ar1	T	G	6: 122,850,622	D212A	probably benign	Het
Cacna1s	T	C	1: 136,100,667	F914S	probably damaging	Het
Camk1d	T	C	2: 5,565,665	I62V	probably benign	Het
Caskin1	T	C	17: 24,505,265	M1009T	possibly damaging	Het
Casp2	A	G	6: 42,276,637		probably benign	Het
Cd2bp2	T	A	7: 127,194,799	Y106F	probably damaging	Het
Celsr3	G	A	9: 108,845,727	C2763Y	probably damaging	Het
Cyp2g1	T	G	7: 26,816,640	L310V	possibly damaging	Het
Dusp22	G	A	13: 30,707,961	V99M	probably damaging	Het
Fam131b	G	A	6: 42,320,979	S92L	probably benign	Het
Fbxw10	A	T	11: 62,857,716	N390Y	probably damaging	Het
Flg2	A	T	3: 93,203,449	H928L	unknown	Het
Gapdhs	T	C	7: 30,732,347	T280A	probably damaging	Het
Hdac11	A	G	6: 91,157,542	K50E	probably damaging	Het
Hif3a	G	T	7: 17,051,146	A181E	probably damaging	Het
Ikbkap	A	T	4: 56,787,807	W375R	probably damaging	Het
Itgb8	A	G	12: 119,202,536	S87P	probably benign	Het
Klhl12	T	A	1: 134,483,820	Y302*	probably null	Het
Lhx1	C	A	11: 84,522,239	D30Y	probably damaging	Het
Mrpl40	A	G	16: 18,872,385	Y148H	probably damaging	Het
Myh13	A	T	11: 67,353,658	H1007L	possibly damaging	Het
Nhlrc2	T	C	19: 56,570,584	I167T	probably damaging	Het
Nxpe3	A	T	16: 55,866,201	I148K	probably damaging	Het
Odf2l	A	G	3: 145,129,010		probably null	Het
Otud7b	C	T	3: 96,151,960	R347*	probably null	Het
P3h4	G	T	11: 100,414,017	H181Q	probably benign	Het
P4htm	T	A	9: 108,583,733	Y180F	possibly damaging	Het
Pcna-ps2	A	G	19: 9,284,099	I241V	probably benign	Het
Pcnx2	T	C	8: 125,753,728	S1947G	probably damaging	Het
Piezo2	T	C	18: 63,113,934	I336V	probably benign	Het
Plcd1	T	C	9: 119,076,172	D157G	probably damaging	Het
Plekhm2	A	C	4: 141,639,693	I212S	probably damaging	Het
Pmvk	G	T	3: 89,464,369	C57F	probably benign	Het
Pole	T	C	5: 110,332,463	S91P	probably benign	Het
Ppargc1b	C	G	18: 61,309,093	D591H	probably damaging	Het
Ppp4r3b	A	T	11: 29,209,356	D570V	probably damaging	Het
Pxdn	T	A	12: 30,003,046	I1074N	probably damaging	Het
Ralgapa2	A	T	2: 146,388,569	D1025E	probably damaging	Het
Ralgps1	A	G	2: 33,243,628		probably benign	Het
Rasal1	C	T	5: 120,679,070		probably benign	Het
Rps2	A	T	17: 24,720,916		probably benign	Het
Scn7a	G	C	2: 66,699,873	Y709*	probably null	Het
Skint1	T	A	4: 112,021,523	C217*	probably null	Het
Slc50a1	T	C	3: 89,269,153	Y82C	probably damaging	Het
Slc9a4	T	C	1: 40,612,263	V567A	probably benign	Het
Snx27	A	T	3: 94,502,963	W469R	probably damaging	Het
Sos2	A	G	12: 69,596,795	L937P	probably damaging	Het
Ssh1	T	C	5: 113,943,120	T728A	probably benign	Het
Tnfrsf8	G	A	4: 145,292,687	R193C	probably benign	Het
Usp33	T	A	3: 152,379,476	M583K	possibly damaging	Het
Usp33	G	A	3: 152,379,596	C623Y	probably damaging	Het
Wdfy3	T	C	5: 101,869,989	I2562V	probably damaging	Het
Wnk2	T	C	13: 49,067,306	D1175G	probably damaging	Het
Zcchc11	T	C	4: 108,512,923	V673A	probably damaging	Het
Zfp341	G	A	2: 154,632,289	E338K	probably damaging	Het
Zfp398	A	G	6: 47,840,704		probably benign	Het
Zp2	T	A	7: 120,133,339	K661N	probably null	Het

Other mutations in Brca2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Brca2	APN	5	150539898	missense	probably benign	0.18
IGL00392:Brca2	APN	5	150541240	missense	probably benign	0.02
IGL00557:Brca2	APN	5	150560538	missense	probably benign
IGL00798:Brca2	APN	5	150539463	missense	probably benign	0.30
IGL00933:Brca2	APN	5	150542404	missense	probably benign	0.04
IGL00964:Brca2	APN	5	150532310	missense	probably damaging	1.00
IGL01152:Brca2	APN	5	150542390	missense	probably damaging	0.99
IGL01577:Brca2	APN	5	150541620	nonsense	probably null
IGL01585:Brca2	APN	5	150539516	missense	possibly damaging	0.76
IGL01732:Brca2	APN	5	150542387	missense	probably benign	0.13
IGL01809:Brca2	APN	5	150531061	splice site	probably null
IGL01911:Brca2	APN	5	150567613	missense	probably damaging	0.96
IGL02113:Brca2	APN	5	150540979	missense	possibly damaging	0.95
IGL02313:Brca2	APN	5	150538661	missense	probably damaging	1.00
IGL02342:Brca2	APN	5	150542824	missense	possibly damaging	0.94
IGL02508:Brca2	APN	5	150543308	missense	possibly damaging	0.85
IGL02532:Brca2	APN	5	150550862	missense	probably damaging	1.00
IGL02646:Brca2	APN	5	150560790	missense	possibly damaging	0.89
IGL02738:Brca2	APN	5	150567035	missense	probably damaging	1.00
IGL02833:Brca2	APN	5	150541790	missense	possibly damaging	0.83
IGL02871:Brca2	APN	5	150542552	missense	probably benign	0.13
IGL02995:Brca2	APN	5	150529488	missense	probably damaging	1.00
IGL03105:Brca2	APN	5	150560485	missense	probably benign	0.02
R0219:Brca2	UTSW	5	150523175	splice site	probably benign
R0416:Brca2	UTSW	5	150569392	missense	possibly damaging	0.93
R0441:Brca2	UTSW	5	150541857	missense	probably damaging	0.96
R0548:Brca2	UTSW	5	150544935	missense	probably damaging	0.96
R0745:Brca2	UTSW	5	150544882	splice site	probably benign
R0799:Brca2	UTSW	5	150560193	missense	probably damaging	0.99
R1165:Brca2	UTSW	5	150542747	missense	probably damaging	0.98
R1247:Brca2	UTSW	5	150541274	missense	probably damaging	1.00
R1403:Brca2	UTSW	5	150542649	missense	probably benign	0.22
R1403:Brca2	UTSW	5	150542649	missense	probably benign	0.22
R1444:Brca2	UTSW	5	150542450	missense	probably benign
R1466:Brca2	UTSW	5	150552258	missense	probably damaging	0.99
R1466:Brca2	UTSW	5	150552258	missense	probably damaging	0.99
R1584:Brca2	UTSW	5	150552258	missense	probably damaging	0.99
R1599:Brca2	UTSW	5	150548713	nonsense	probably null
R1600:Brca2	UTSW	5	150560830	splice site	probably benign
R1822:Brca2	UTSW	5	150540198	missense	probably benign	0.06
R1824:Brca2	UTSW	5	150536922	missense	possibly damaging	0.94
R2037:Brca2	UTSW	5	150540669	missense	probably benign
R2131:Brca2	UTSW	5	150557129	missense	probably damaging	1.00
R2203:Brca2	UTSW	5	150539502	missense	possibly damaging	0.58
R2208:Brca2	UTSW	5	150532344	missense	probably damaging	0.96
R2293:Brca2	UTSW	5	150560534	missense	possibly damaging	0.86
R2517:Brca2	UTSW	5	150539672	missense	probably benign	0.04
R2566:Brca2	UTSW	5	150541762	missense	probably benign	0.03
R3422:Brca2	UTSW	5	150543121	missense	possibly damaging	0.91
R3917:Brca2	UTSW	5	150540827	missense	probably damaging	0.96
R3946:Brca2	UTSW	5	150536704	missense	probably damaging	0.96
R4176:Brca2	UTSW	5	150539633	nonsense	probably null
R4255:Brca2	UTSW	5	150541169	missense	possibly damaging	0.92
R4450:Brca2	UTSW	5	150536053	missense	probably damaging	0.96
R4603:Brca2	UTSW	5	150536165	missense	possibly damaging	0.86
R4681:Brca2	UTSW	5	150552398	splice site	probably null
R4755:Brca2	UTSW	5	150559987	intron	probably null
R4762:Brca2	UTSW	5	150531116	missense	probably benign	0.00
R4824:Brca2	UTSW	5	150539735	missense	probably damaging	1.00
R4887:Brca2	UTSW	5	150556937	missense	probably damaging	1.00
R5020:Brca2	UTSW	5	150560436	missense	probably damaging	1.00
R5159:Brca2	UTSW	5	150542108	missense	possibly damaging	0.93
R5216:Brca2	UTSW	5	150542980	missense	probably damaging	0.99
R5269:Brca2	UTSW	5	150539223	missense	possibly damaging	0.75
R5274:Brca2	UTSW	5	150539689	missense	probably benign	0.00
R5589:Brca2	UTSW	5	150557132	missense	possibly damaging	0.67
R5619:Brca2	UTSW	5	150557114	missense	probably damaging	0.96
R5641:Brca2	UTSW	5	150556899	missense	probably damaging	1.00
R5686:Brca2	UTSW	5	150540904	missense	probably benign	0.00
R5730:Brca2	UTSW	5	150569005	missense	possibly damaging	0.85
R5763:Brca2	UTSW	5	150548006	missense	possibly damaging	0.85
R5893:Brca2	UTSW	5	150569138	missense	probably benign	0.02
R5900:Brca2	UTSW	5	150541132	missense	probably benign	0.01
R5926:Brca2	UTSW	5	150534622	missense	probably benign	0.07
R5966:Brca2	UTSW	5	150543251	missense	probably damaging	0.99
R6025:Brca2	UTSW	5	150541575	frame shift	probably null
R6062:Brca2	UTSW	5	150556889	missense	probably damaging	0.96
R6141:Brca2	UTSW	5	150540637	missense	possibly damaging	0.91
R6244:Brca2	UTSW	5	150566978	missense	probably benign	0.08
R6508:Brca2	UTSW	5	150536593	missense	possibly damaging	0.91
R6519:Brca2	UTSW	5	150540979	missense	probably damaging	0.99
R6611:Brca2	UTSW	5	150536193	missense	probably damaging	0.99
R6698:Brca2	UTSW	5	150532394	missense	probably damaging	1.00
R6856:Brca2	UTSW	5	150540208	missense	possibly damaging	0.68
R6912:Brca2	UTSW	5	150541742	missense	probably damaging	0.99
R7002:Brca2	UTSW	5	150539918	missense	probably benign
R7025:Brca2	UTSW	5	150540478	missense	probably benign	0.39
R7151:Brca2	UTSW	5	150541436	missense	probably benign	0.12
R7202:Brca2	UTSW	5	150532354	missense	probably benign	0.03
R7365:Brca2	UTSW	5	150532337	missense	probably damaging	0.99
R7510:Brca2	UTSW	5	150536691	missense	possibly damaging	0.85
R7612:Brca2	UTSW	5	150540611	missense	probably benign	0.03
R7682:Brca2	UTSW	5	150543153	missense	probably benign
Z1088:Brca2	UTSW	5	150542763	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGTGGTTCTTCGGGCAATAC -3'
(R):5'- TGCGTCAACAGTCACTCCTC -3'

Sequencing Primer
(F):5'- GTGGTTCTTCGGGCAATACTCAATC -3'
(R):5'- AACAAAGTCTCATTTTGGGGGC -3'

Posted On

2017-02-10