Mutagenetix > Incidental Mutation

Incidental Mutation 'R6318:Brd2'

510318

Institutional Source

Beutler Lab

Gene Symbol

Brd2

Ensembl Gene

ENSMUSG00000024335

Gene Name

bromodomain containing 2

Synonyms

Frg-1, D17H6S113E, Ring3, Rnf3, Fsrg1

MMRRC Submission

044473-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6318 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34330993-34341581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34331872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 349 (V349F)

Ref Sequence

ENSEMBL: ENSMUSP00000092990 (fasta)

Gene Model

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

AlphaFold

Q7JJ13

Predicted Effect

probably damaging
Transcript: ENSMUST00000025193
AA Change: V741F

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025193
Gene: ENSMUSG00000024335
AA Change: V741F

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 damaging
Transcript: ENSMUST00000095347
AA Change: V349F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092990
Gene: ENSMUSG00000024335
AA Change: V349F

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 damaging
Transcript: ENSMUST00000114242
AA Change: V741F

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109880
Gene: ENSMUSG00000024335
AA Change: V741F

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

0.1568

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.3%

Validation Efficiency

99% (74/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,270,474 (GRCm39)	T13A	possibly damaging	Het
Abcg4	T	C	9: 44,186,645 (GRCm39)	T500A	probably benign	Het
Adcy4	T	A	14: 56,006,681 (GRCm39)	I1051F	probably damaging	Het
Adgrg6	A	T	10: 14,343,241 (GRCm39)	N235K	probably benign	Het
Aldh3a2	A	C	11: 61,153,245 (GRCm39)	Y160*	probably null	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Armt1	T	C	10: 4,400,859 (GRCm39)	M202T	probably benign	Het
Btnl10	A	T	11: 58,817,691 (GRCm39)		probably benign	Het
Ccdc178	A	G	18: 22,253,591 (GRCm39)	V216A	possibly damaging	Het
Ccdc85c	A	T	12: 108,240,968 (GRCm39)	L142Q	unknown	Het
Cdc27	A	T	11: 104,419,520 (GRCm39)	S172T	probably damaging	Het
Ceacam14	T	C	7: 17,548,237 (GRCm39)	I109T	probably damaging	Het
Ces5a	C	T	8: 94,261,211 (GRCm39)	G72E	probably damaging	Het
Cfb	A	G	17: 35,080,800 (GRCm39)	Y66H	possibly damaging	Het
Clec14a	G	A	12: 58,315,001 (GRCm39)	P207L	probably damaging	Het
Clec16a	G	A	16: 10,448,652 (GRCm39)	R599H	probably damaging	Het
Csmd1	A	T	8: 15,953,212 (GRCm39)	I3423N	probably damaging	Het
Cyp4a29	C	A	4: 115,107,396 (GRCm39)	N243K	probably benign	Het
Ddx59	T	C	1: 136,344,610 (GRCm39)	F94L	probably damaging	Het
Dusp3	A	C	11: 101,877,697 (GRCm39)	V19G	probably benign	Het
Fat3	T	C	9: 15,828,280 (GRCm39)		probably benign	Het
Fgfr4	T	A	13: 55,313,921 (GRCm39)	V545E	probably damaging	Het
Fxn	G	T	19: 24,257,790 (GRCm39)	A47D	probably damaging	Het
Gdpgp1	A	T	7: 79,888,898 (GRCm39)	I310F	possibly damaging	Het
Gm7210	A	T	7: 11,328,040 (GRCm39)		noncoding transcript	Het
Grm7	G	T	6: 111,335,836 (GRCm39)	C749F	probably damaging	Het
Hps4	T	G	5: 112,494,495 (GRCm39)	V26G	probably damaging	Het
Igf1r	A	G	7: 67,814,981 (GRCm39)	D294G	probably benign	Het
Immp1l	T	C	2: 105,761,172 (GRCm39)	F27S	probably benign	Het
Kcnk3	T	A	5: 30,779,930 (GRCm39)	C327S	probably damaging	Het
Kif13a	T	A	13: 46,968,683 (GRCm39)		probably null	Het
Krtap5-4	T	C	7: 141,857,827 (GRCm39)	S166P	unknown	Het
Lyst	G	A	13: 13,917,896 (GRCm39)	D3319N	possibly damaging	Het
Malrd1	T	G	2: 16,047,078 (GRCm39)	S1735A	unknown	Het
Myh4	A	G	11: 67,134,268 (GRCm39)	T308A	probably benign	Het
Myh8	A	T	11: 67,190,167 (GRCm39)	Q1269L	probably benign	Het
Myo15b	G	A	11: 115,781,657 (GRCm39)	V1367I	probably damaging	Het
Nae1	T	C	8: 105,250,269 (GRCm39)	D208G	probably benign	Het
Nelfe	T	A	17: 35,073,432 (GRCm39)	V296D	probably damaging	Het
Nkapd1	T	C	9: 50,518,761 (GRCm39)	R284G	probably benign	Het
Npepps	A	T	11: 97,109,374 (GRCm39)	V734E	probably damaging	Het
Ogdh	A	G	11: 6,299,390 (GRCm39)	N752S	probably damaging	Het
Or11i1	T	C	3: 106,729,503 (GRCm39)	D124G	probably damaging	Het
Or3a1b	A	T	11: 74,012,547 (GRCm39)	Q144L	possibly damaging	Het
Or5t9	A	G	2: 86,659,998 (GRCm39)	I301V	possibly damaging	Het
Or8b1	T	C	9: 38,399,673 (GRCm39)	M116T	probably benign	Het
Otof	C	A	5: 30,571,888 (GRCm39)	G171V	probably damaging	Het
Phtf2	A	T	5: 21,006,939 (GRCm39)	V208D	probably damaging	Het
Pkn1	T	A	8: 84,410,220 (GRCm39)	T340S	probably damaging	Het
Plcd4	C	T	1: 74,602,753 (GRCm39)	L668F	possibly damaging	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Prss50	A	T	9: 110,690,367 (GRCm39)	D170V	probably damaging	Het
Ptprg	T	C	14: 12,237,118 (GRCm38)	V604A	probably damaging	Het
Rab33b	T	C	3: 51,400,826 (GRCm39)	V100A	probably damaging	Het
Rbm26	T	A	14: 105,368,971 (GRCm39)	D736V	probably damaging	Het
Rela	C	A	19: 5,696,992 (GRCm39)	P400T	probably benign	Het
Rpusd4	T	C	9: 35,179,334 (GRCm39)	L50P	probably damaging	Het
Scn10a	A	C	9: 119,456,181 (GRCm39)	Y1214D	probably damaging	Het
Sema3c	A	G	5: 17,877,430 (GRCm39)	E179G	probably damaging	Het
Skint5	T	A	4: 113,374,330 (GRCm39)	D1253V	unknown	Het
Sp4	G	T	12: 118,201,913 (GRCm39)	P771H	probably damaging	Het
Sphkap	T	A	1: 83,256,099 (GRCm39)	Y263F	probably damaging	Het
Ssbp1	G	A	6: 40,453,687 (GRCm39)	V78I	probably benign	Het
St3gal6	A	G	16: 58,306,769 (GRCm39)	I87T	probably benign	Het
Tango6	T	A	8: 107,545,129 (GRCm39)	D997E	probably benign	Het
Tpr	C	T	1: 150,321,639 (GRCm39)	P2265S	possibly damaging	Het
Ttc7b	A	T	12: 100,291,936 (GRCm39)	F212Y	probably damaging	Het
Ubc	A	G	5: 125,465,324 (GRCm39)	M1T	probably null	Het
Vill	G	C	9: 118,892,716 (GRCm39)	Q376H	probably benign	Het
Yes1	T	C	5: 32,809,030 (GRCm39)	I132T	possibly damaging	Het
Ythdc2	A	G	18: 44,993,444 (GRCm39)	T830A	probably benign	Het
Zbtb41	T	A	1: 139,358,044 (GRCm39)	F451I	possibly damaging	Het
Zfp995	C	T	17: 22,099,493 (GRCm39)	C247Y	probably benign	Het

Other mutations in Brd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Brd2	APN	17	34,333,397 (GRCm39)	missense	probably damaging	1.00
IGL01589:Brd2	APN	17	34,336,016 (GRCm39)	missense	probably damaging	1.00
IGL01724:Brd2	APN	17	34,335,975 (GRCm39)	missense	probably damaging	1.00
IGL01724:Brd2	APN	17	34,335,976 (GRCm39)	missense	probably damaging	1.00
IGL02043:Brd2	APN	17	34,331,590 (GRCm39)	unclassified	probably benign
crater	UTSW	17	34,332,233 (GRCm39)	missense	probably damaging	0.96
FR4449:Brd2	UTSW	17	34,335,310 (GRCm39)	unclassified	probably benign
FR4548:Brd2	UTSW	17	34,335,310 (GRCm39)	unclassified	probably benign
R0085:Brd2	UTSW	17	34,332,233 (GRCm39)	missense	probably damaging	0.96
R0497:Brd2	UTSW	17	34,333,334 (GRCm39)	missense	probably damaging	1.00
R0879:Brd2	UTSW	17	34,332,420 (GRCm39)	missense	probably benign	0.03
R1150:Brd2	UTSW	17	34,332,981 (GRCm39)	utr 3 prime	probably benign
R1152:Brd2	UTSW	17	34,332,981 (GRCm39)	utr 3 prime	probably benign
R1280:Brd2	UTSW	17	34,333,124 (GRCm39)	missense	possibly damaging	0.91
R1426:Brd2	UTSW	17	34,332,981 (GRCm39)	utr 3 prime	probably benign
R2247:Brd2	UTSW	17	34,333,389 (GRCm39)	missense	probably damaging	1.00
R3737:Brd2	UTSW	17	34,336,054 (GRCm39)	missense	probably benign	0.10
R5286:Brd2	UTSW	17	34,334,205 (GRCm39)	missense	probably damaging	0.97
R5673:Brd2	UTSW	17	34,331,581 (GRCm39)	unclassified	probably benign
R6134:Brd2	UTSW	17	34,332,669 (GRCm39)	missense	probably benign	0.00
R7257:Brd2	UTSW	17	34,332,796 (GRCm39)	missense	probably damaging	1.00
R7493:Brd2	UTSW	17	34,341,231 (GRCm39)	unclassified	probably benign
R7888:Brd2	UTSW	17	34,335,995 (GRCm39)	missense	probably damaging	1.00
R7975:Brd2	UTSW	17	34,334,424 (GRCm39)	missense	probably damaging	0.98
R8762:Brd2	UTSW	17	34,335,934 (GRCm39)	missense	probably damaging	1.00
R8912:Brd2	UTSW	17	34,332,458 (GRCm39)	unclassified	probably benign
R9197:Brd2	UTSW	17	34,333,370 (GRCm39)	missense	probably damaging	1.00
R9430:Brd2	UTSW	17	34,331,610 (GRCm39)	missense	unknown
R9670:Brd2	UTSW	17	34,334,205 (GRCm39)	missense	possibly damaging	0.89
Z1176:Brd2	UTSW	17	34,332,662 (GRCm39)	missense	possibly damaging	0.94
Z1177:Brd2	UTSW	17	34,335,882 (GRCm39)	unclassified	probably benign
Z1177:Brd2	UTSW	17	34,335,881 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACTTGCTGTGCAGATGACTC -3'
(R):5'- AGCAGCATCCAGGATGACTG -3'

Sequencing Primer
(F):5'- CTCACTCGCTGTAAAGTTAAAGG -3'
(R):5'- ACTGGGCTGCTTCAGGAATG -3'

Posted On

2018-04-02