Mutagenetix > Incidental Mutation

Incidental Mutation 'R8762:Brd2'

671878

Institutional Source

Beutler Lab

Gene Symbol

Brd2

Ensembl Gene

ENSMUSG00000024335

Gene Name

bromodomain containing 2

Synonyms

Frg-1, D17H6S113E, Ring3, Rnf3, Fsrg1

MMRRC Submission

068622-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34330993-34341581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34335934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 93 (Q93L)

Ref Sequence

ENSEMBL: ENSMUSP00000025193 (fasta)

Gene Model

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

AlphaFold

Q7JJ13

Predicted Effect

probably damaging
Transcript: ENSMUST00000025193
AA Change: Q93L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025193
Gene: ENSMUSG00000024335
AA Change: Q93L

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

SMART Domains

Protein: ENSMUSP00000092990
Gene: ENSMUSG00000024335

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: Q93L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109880
Gene: ENSMUSG00000024335
AA Change: Q93L

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

probably damaging
Transcript: ENSMUST00000151986
AA Change: Q93L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117359
Gene: ENSMUSG00000024335
AA Change: Q93L

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

possibly damaging
Transcript: ENSMUST00000154232
AA Change: Q93L

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128835
Gene: ENSMUSG00000024335
AA Change: Q93L

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

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

0.3567

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (66/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	A	G	11: 101,301,226 (GRCm39)	V272A	probably benign	Het
Acbd6	G	A	1: 155,562,706 (GRCm39)	E236K	probably damaging	Het
Actr1b	T	C	1: 36,748,909 (GRCm39)	N9S	probably benign	Het
Adam17	A	T	12: 21,401,595 (GRCm39)	D133E	probably benign	Het
Adam6b	G	A	12: 113,453,227 (GRCm39)	V15M	probably damaging	Het
Adam9	T	A	8: 25,457,235 (GRCm39)	N631I	probably damaging	Het
Albfm1	A	G	5: 90,714,461 (GRCm39)	N157S	probably benign	Het
Amy2a1	A	T	3: 113,325,276 (GRCm39)		probably benign	Het
Aplnr	A	T	2: 84,967,515 (GRCm39)	Y180F	probably benign	Het
Arhgef7	T	C	8: 11,831,216 (GRCm39)	V105A	probably benign	Het
Bambi	G	A	18: 3,511,277 (GRCm39)	D33N	probably damaging	Het
Bicc1	G	A	10: 70,779,216 (GRCm39)	T724I	probably benign	Het
Cacnb2	A	G	2: 14,972,759 (GRCm39)	D222G	possibly damaging	Het
Cdh1	G	T	8: 107,386,336 (GRCm39)	D420Y	probably damaging	Het
Cep162	T	C	9: 87,109,314 (GRCm39)	S430G	probably benign	Het
Cfap161	T	A	7: 83,443,282 (GRCm39)	R27S	possibly damaging	Het
Chek1	C	T	9: 36,629,636 (GRCm39)	A237T	probably benign	Het
Chrna3	T	A	9: 54,922,995 (GRCm39)	K271M	probably damaging	Het
Coro7	A	C	16: 4,452,203 (GRCm39)	V410G	probably benign	Het
Crmp1	C	A	5: 37,441,440 (GRCm39)	N507K	probably damaging	Het
Crocc	T	C	4: 140,761,369 (GRCm39)	R755G	possibly damaging	Het
Disc1	A	G	8: 125,881,796 (GRCm39)	D577G	probably damaging	Het
Dnah6	A	G	6: 73,156,811 (GRCm39)	Y649H	possibly damaging	Het
Flywch1	A	G	17: 23,975,731 (GRCm39)	S504P	probably damaging	Het
Fpr1	A	T	17: 18,097,851 (GRCm39)	V46D	probably damaging	Het
Fpr-rs7	C	T	17: 20,333,789 (GRCm39)	V234M	probably benign	Het
Ighv5-16	T	C	12: 113,802,288 (GRCm39)	N71D	probably benign	Het
Kash5	G	T	7: 44,845,481 (GRCm39)	D152E	probably damaging	Het
Kdm3b	A	G	18: 34,937,157 (GRCm39)	M480V	probably benign	Het
L3mbtl3	T	A	10: 26,152,121 (GRCm39)	D825V	probably damaging	Het
Lef1	T	A	3: 130,988,366 (GRCm39)	M311K	probably damaging	Het
Magi1	T	A	6: 93,792,789 (GRCm39)	R150*	probably null	Het
Magi3	C	T	3: 103,958,169 (GRCm39)	V639I	probably damaging	Het
Mocos	A	T	18: 24,812,554 (GRCm39)	R483W	probably damaging	Het
Mrps11	G	T	7: 78,438,487 (GRCm39)	V80F	possibly damaging	Het
Myh2	A	T	11: 67,084,578 (GRCm39)	R1706W	probably damaging	Het
Neurod6	T	A	6: 55,656,228 (GRCm39)	L136F	probably damaging	Het
Nfe2l1	A	T	11: 96,711,306 (GRCm39)	Y308N	probably damaging	Het
Nptn	T	A	9: 58,525,905 (GRCm39)		probably benign	Het
Or1e28-ps1	G	T	11: 73,615,307 (GRCm39)	T181N	unknown	Het
Or5g25	A	T	2: 85,478,034 (GRCm39)	S210R	probably damaging	Het
Oscar	A	G	7: 3,613,900 (GRCm39)	S227P	probably benign	Het
Phgdh	A	C	3: 98,247,024 (GRCm39)	I42R	possibly damaging	Het
Pla2g4a	C	T	1: 149,761,935 (GRCm39)	G174D	probably benign	Het
Plcd4	A	G	1: 74,591,213 (GRCm39)	T203A	possibly damaging	Het
Plk3	ACACTCAC	ACAC	4: 116,989,090 (GRCm39)		probably benign	Het
Plppr4	A	T	3: 117,119,482 (GRCm39)	V309D	probably damaging	Het
Pltp	T	C	2: 164,686,652 (GRCm39)	K324E	possibly damaging	Het
Pml	C	T	9: 58,154,348 (GRCm39)	R175H	probably damaging	Het
Psg20	C	A	7: 18,408,557 (GRCm39)	V388F	probably benign	Het
Qrfprl	T	C	6: 65,424,393 (GRCm39)	V182A	probably benign	Het
Rabgef1	A	G	5: 130,237,557 (GRCm39)	D209G	possibly damaging	Het
Rif1	A	T	2: 52,001,742 (GRCm39)	N90I		Het
Sec31a	T	C	5: 100,526,688 (GRCm39)	H57R		Het
Sidt1	T	C	16: 44,152,707 (GRCm39)	N62S	probably benign	Het
Slc18a2	T	A	19: 59,261,355 (GRCm39)	M172K	probably benign	Het
Slc34a3	T	C	2: 25,121,003 (GRCm39)	T362A	probably benign	Het
Smtn	T	G	11: 3,476,407 (GRCm39)	D158A	probably benign	Het
Spen	C	T	4: 141,200,261 (GRCm39)	V2789M	probably damaging	Het
Taf2	A	T	15: 54,910,849 (GRCm39)	N608K	probably benign	Het
Tctn3	A	G	19: 40,595,636 (GRCm39)	V383A	unknown	Het
Themis3	A	T	17: 66,866,676 (GRCm39)	M188K	probably benign	Het
Trpv5	A	G	6: 41,652,313 (GRCm39)	V124A	probably benign	Het
Tshr	G	A	12: 91,504,324 (GRCm39)	V421M	probably damaging	Het
Ttn	T	A	2: 76,539,426 (GRCm39)	D34520V	probably benign	Het
Ttn	A	C	2: 76,608,294 (GRCm39)	Y17876*	probably null	Het
Zrsr2-ps1	T	C	11: 22,923,694 (GRCm39)	L156P	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
R6318:Brd2	UTSW	17	34,331,872 (GRCm39)	missense	probably damaging	1.00
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
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'- CTGTAAAATGGAGCCAGGGC -3'
(R):5'- GCCTTCTCTGCTGTATGAGG -3'

Sequencing Primer
(F):5'- AAGAATCTACAACTCTGGTGGC -3'
(R):5'- TATGAGGGATTTGAGAGCCCCAC -3'

Posted On

2021-04-30