Mutagenetix > Incidental Mutations

Incidental Mutation 'R0879:Brd2'

81947

Institutional Source

Beutler Lab

Gene Symbol

Brd2

Ensembl Gene

ENSMUSG00000024335

Gene Name

bromodomain containing 2

Synonyms

Frg-1, Fsrg1, D17H6S113E, Ring3, Rnf3

MMRRC Submission

039046-MU

Accession Numbers

Genbank: NM_010238, NM_001025387; MGI: 99495

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0879 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34112023-34122634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34113446 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 232 (V232D)

Ref Sequence

ENSEMBL: ENSMUSP00000092990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025193] [ENSMUST00000095347] [ENSMUST00000114242] [ENSMUST00000151986] [ENSMUST00000154232]

Predicted Effect

probably benign
Transcript: ENSMUST00000025193
AA Change: V624D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025193
Gene: ENSMUSG00000024335
AA Change: V624D

Domain	Start	End	E-Value	Type
low complexity region	10	29	N/A	INTRINSIC
BROMO	71	181	2.13e-43	SMART
low complexity region	256	276	N/A	INTRINSIC
low complexity region	284	290	N/A	INTRINSIC
low complexity region	294	304	N/A	INTRINSIC
BROMO	345	454	1.13e-47	SMART
coiled coil region	486	537	N/A	INTRINSIC
low complexity region	542	560	N/A	INTRINSIC
low complexity region	583	593	N/A	INTRINSIC
PDB:2JNS\|A	635	712	3e-37	PDB
coiled coil region	721	750	N/A	INTRINSIC
low complexity region	772	797	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095347
AA Change: V232D

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000092990
Gene: ENSMUSG00000024335
AA Change: V232D

Domain	Start	End	E-Value	Type
BROMO	25	135	1.3e-45	SMART
low complexity region	210	230	N/A	INTRINSIC
low complexity region	238	244	N/A	INTRINSIC
low complexity region	248	258	N/A	INTRINSIC
BROMO	299	408	6.8e-50	SMART
coiled coil region	440	491	N/A	INTRINSIC
low complexity region	496	514	N/A	INTRINSIC
low complexity region	537	547	N/A	INTRINSIC
PDB:2JNS\|A	589	666	2e-37	PDB
coiled coil region	675	704	N/A	INTRINSIC
low complexity region	726	751	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114242
AA Change: V624D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109880
Gene: ENSMUSG00000024335
AA Change: V624D

Domain	Start	End	E-Value	Type
low complexity region	10	29	N/A	INTRINSIC
BROMO	71	181	2.13e-43	SMART
low complexity region	256	276	N/A	INTRINSIC
low complexity region	284	290	N/A	INTRINSIC
low complexity region	294	304	N/A	INTRINSIC
BROMO	345	454	1.13e-47	SMART
coiled coil region	486	537	N/A	INTRINSIC
low complexity region	542	560	N/A	INTRINSIC
low complexity region	583	593	N/A	INTRINSIC
Pfam:BET	639	703	7.4e-35	PFAM
coiled coil region	721	750	N/A	INTRINSIC
low complexity region	772	797	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142570

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148143

Predicted Effect

probably benign
Transcript: ENSMUST00000151986

SMART Domains

Protein: ENSMUSP00000117359
Gene: ENSMUSG00000024335

Domain	Start	End	E-Value	Type
low complexity region	10	29	N/A	INTRINSIC
BROMO	71	181	2.13e-43	SMART
low complexity region	256	276	N/A	INTRINSIC
low complexity region	284	290	N/A	INTRINSIC
low complexity region	294	304	N/A	INTRINSIC
BROMO	345	454	1.13e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154232

SMART Domains

Protein: ENSMUSP00000128835
Gene: ENSMUSG00000024335

Domain	Start	End	E-Value	Type
low complexity region	10	29	N/A	INTRINSIC
low complexity region	50	71	N/A	INTRINSIC
Blast:BROMO	72	110	4e-21	BLAST
PDB:3AQA\|C	72	110	2e-22	PDB
SCOP:d1f68a_	76	103	1e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155286

Predicted Effect

probably benign
Transcript: ENSMUST00000173032

SMART Domains

Protein: ENSMUSP00000134608
Gene: ENSMUSG00000024335

Domain	Start	End	E-Value	Type
Pfam:Bromodomain	1	43	1.4e-6	PFAM
coiled coil region	73	124	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173204

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.9%
20x: 96.3%

Validation Efficiency

100% (41/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with decreased embryo size, decreased cell proliferation, a delay in the cell cycle, and increased cell death. Heterozygous mice also display decreased cell proliferation. [provided by MGI curators]

Allele List at MGI

All alleles(16) : Targeted, other(2) Gene trapped(14)

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	A	9: 63,617,610		probably benign	Het
Adm	A	G	7: 110,628,352	D25G	possibly damaging	Het
Adprhl2	C	T	4: 126,316,617	V357I	probably benign	Het
Akap6	G	T	12: 52,880,799	R164L	probably damaging	Het
Baz2a	A	G	10: 128,121,304	N972S	probably damaging	Het
C6	A	G	15: 4,763,336		probably benign	Het
Ceacam5	A	C	7: 17,757,702	I666L	probably benign	Het
Col7a1	T	C	9: 108,976,091		probably benign	Het
Dnah17	C	T	11: 118,056,835		probably benign	Het
Dnah7a	A	T	1: 53,427,860	V3615E	possibly damaging	Het
Eml6	A	G	11: 29,850,816		probably null	Het
Enpp2	T	C	15: 54,877,930	E324G	probably damaging	Het
Fgd4	A	G	16: 16,477,449	V222A	probably damaging	Het
Gm4076	A	G	13: 85,127,207		noncoding transcript	Het
Gm4775	T	C	14: 106,100,793		noncoding transcript	Het
Igsf9b	T	C	9: 27,333,742	S1002P	probably damaging	Het
Jag1	A	G	2: 137,100,081	S244P	possibly damaging	Het
Klhl41	A	T	2: 69,683,483		probably benign	Het
Ltbr	A	G	6: 125,313,375		probably benign	Het
Megf8	A	G	7: 25,338,471	E804G	possibly damaging	Het
Mybpc1	G	A	10: 88,571,516		probably benign	Het
Npas4	T	C	19: 4,986,916	R407G	probably benign	Het
Oxnad1	T	A	14: 32,099,596	Y213N	probably damaging	Het
Pde6d	A	G	1: 86,545,801	F91S	probably benign	Het
Pelp1	A	G	11: 70,395,297		probably benign	Het
Plscr2	T	C	9: 92,287,793	Y99H	probably damaging	Het
Rft1	T	C	14: 30,682,748		probably benign	Het
Ryr3	T	C	2: 113,030,243	Y30C	probably benign	Het
Selenbp2	A	G	3: 94,699,556	T108A	possibly damaging	Het
Stk32b	A	G	5: 37,459,596		probably benign	Het
Stra6	T	C	9: 58,135,204		probably null	Het
Usp17le	A	T	7: 104,769,647	L96Q	probably damaging	Het
Usp17le	G	T	7: 104,769,648	L96M	possibly damaging	Het
Vmn1r76	A	T	7: 11,930,735	I184N	probably benign	Het
Vmn2r102	T	C	17: 19,694,192	V673A	probably damaging	Het
Wdr17	T	G	8: 54,661,481	I667L	probably benign	Het
Zfp292	T	C	4: 34,811,218	T609A	probably benign	Het
Zfp821	T	C	8: 109,721,842	I135T	possibly damaging	Het
Zfp865	A	G	7: 5,031,343	T776A	probably benign	Het
Zp2	G	T	7: 120,135,534	P477Q	probably damaging	Het

Other mutations in Brd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Brd2	APN	17	34114423	missense	probably damaging	1.00
IGL01589:Brd2	APN	17	34117042	missense	probably damaging	1.00
IGL01724:Brd2	APN	17	34117002	missense	probably damaging	1.00
IGL01724:Brd2	APN	17	34117001	missense	probably damaging	1.00
IGL02043:Brd2	APN	17	34112616	unclassified	probably benign
crater	UTSW	17	34113259	missense	probably damaging	0.96
FR4449:Brd2	UTSW	17	34116336	unclassified	probably benign
FR4548:Brd2	UTSW	17	34116336	unclassified	probably benign
R0085:Brd2	UTSW	17	34113259	missense	probably damaging	0.96
R0497:Brd2	UTSW	17	34114360	missense	probably damaging	1.00
R1150:Brd2	UTSW	17	34114007	utr 3 prime	probably benign
R1152:Brd2	UTSW	17	34114007	utr 3 prime	probably benign
R1280:Brd2	UTSW	17	34114150	missense	possibly damaging	0.91
R1426:Brd2	UTSW	17	34114007	utr 3 prime	probably benign
R2247:Brd2	UTSW	17	34114415	missense	probably damaging	1.00
R3737:Brd2	UTSW	17	34117080	missense	probably benign	0.10
R5286:Brd2	UTSW	17	34115231	missense	probably damaging	0.97
R5673:Brd2	UTSW	17	34112607	unclassified	probably benign
R6134:Brd2	UTSW	17	34113695	missense	probably benign	0.00
R6318:Brd2	UTSW	17	34112898	missense	probably damaging	1.00
R7257:Brd2	UTSW	17	34113822	missense	probably damaging	1.00
R7493:Brd2	UTSW	17	34122257	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TCGCTCAAGCTCTCTAAGTGTGGAC -3'
(R):5'- ATCGTGGCCGAATTGGGATCGATG -3'

Sequencing Primer
(F):5'- GACGGCTTGAGTGTTTCAAAATC -3'
(R):5'- TAGCAATGCTACTACACTCAGC -3'

Posted On

2013-11-08