Incidental Mutation 'R1150:Brd2'
ID 101591
Institutional Source Beutler Lab
Gene Symbol Brd2
Ensembl Gene ENSMUSG00000024335
Gene Name bromodomain containing 2
Synonyms Frg-1, D17H6S113E, Ring3, Rnf3, Fsrg1
MMRRC Submission 039223-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1150 (G1)
Quality Score 217
Status Not validated
Chromosome 17
Chromosomal Location 34330993-34341581 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) ATCTTCTTC to ATCTTC at 34332981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000025193] [ENSMUST00000095347] [ENSMUST00000114242] [ENSMUST00000151986] [ENSMUST00000154232]
AlphaFold Q7JJ13
Predicted Effect probably benign
Transcript: ENSMUST00000025193
SMART Domains Protein: ENSMUSP00000025193
Gene: ENSMUSG00000024335

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000109880
Gene: ENSMUSG00000024335

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000173032
SMART Domains Protein: ENSMUSP00000134608
Gene: ENSMUSG00000024335

DomainStartEndE-ValueType
Pfam:Bromodomain 1 43 1.4e-6 PFAM
coiled coil region 73 124 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155286
Predicted Effect probably benign
Transcript: ENSMUST00000173204
Predicted Effect probably benign
Transcript: ENSMUST00000154232
SMART Domains Protein: ENSMUSP00000128835
Gene: ENSMUSG00000024335

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.2%
  • 10x: 92.6%
  • 20x: 81.5%
Validation Efficiency
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: 4 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 C A 17: 68,164,459 (GRCm39) Q554H probably damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Other mutations in Brd2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2014-01-15