Incidental Mutation 'R7493:Brd2'
ID 580964
Institutional Source Beutler Lab
Gene Symbol Brd2
Ensembl Gene ENSMUSG00000024335
Gene Name bromodomain containing 2
Synonyms Frg-1, D17H6S113E, Ring3, Rnf3, Fsrg1
MMRRC Submission 045567-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7493 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 34330993-34341581 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 34341231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128835 (fasta)
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 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: 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (74/76)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,385,257 (GRCm39) L236P possibly damaging Het
Abca7 T A 10: 79,837,896 (GRCm39) D488E probably damaging Het
Adora2a A G 10: 75,169,423 (GRCm39) K296E possibly damaging Het
Aopep A G 13: 63,163,345 (GRCm39) D122G probably benign Het
Atp13a4 T A 16: 29,290,774 (GRCm39) E225V Het
Bpifb2 A G 2: 153,731,397 (GRCm39) M258V possibly damaging Het
Btaf1 G T 19: 36,987,005 (GRCm39) V1700F probably damaging Het
C2cd3 A G 7: 100,076,433 (GRCm39) I797V Het
Ccdc148 T G 2: 58,899,160 (GRCm39) E71A probably damaging Het
Ccdc18 T A 5: 108,354,483 (GRCm39) L1074* probably null Het
Ccne2 A G 4: 11,198,772 (GRCm39) D215G probably damaging Het
Cers6 T A 2: 68,692,151 (GRCm39) probably null Het
Copz1 A G 15: 103,204,971 (GRCm39) E110G probably damaging Het
Cped1 A T 6: 22,215,512 (GRCm39) D682V probably damaging Het
Crb1 A T 1: 139,164,768 (GRCm39) C1180S probably damaging Het
Cyren A T 6: 34,851,593 (GRCm39) L114Q probably damaging Het
Echdc3 A T 2: 6,194,368 (GRCm39) L229Q probably damaging Het
Etfb C T 7: 43,104,000 (GRCm39) P145L probably damaging Het
Exoc3l2 G T 7: 19,203,813 (GRCm39) R135L Het
Fam83a G A 15: 57,849,569 (GRCm39) A38T probably damaging Het
G6pc2 T C 2: 69,053,344 (GRCm39) Y133H probably benign Het
Gfy T C 7: 44,827,518 (GRCm39) I193V probably benign Het
Ggnbp2 T C 11: 84,744,899 (GRCm39) T208A probably benign Het
Gigyf1 T A 5: 137,523,795 (GRCm39) M1019K probably damaging Het
Gm45783 T C 7: 7,373,599 (GRCm39) D61G probably damaging Het
Golga5 T C 12: 102,450,835 (GRCm39) probably null Het
Ighe A G 12: 113,235,023 (GRCm39) V379A Het
Itpr3 C A 17: 27,313,774 (GRCm39) H573Q probably benign Het
Klhl2 A G 8: 65,202,809 (GRCm39) L463P probably damaging Het
Large1 T G 8: 73,550,343 (GRCm39) M619L probably benign Het
Limd1 T A 9: 123,308,748 (GRCm39) V149E probably benign Het
Lyz2 T C 10: 117,118,144 (GRCm39) K2E probably damaging Het
Man2c1 T A 9: 57,048,412 (GRCm39) S858T probably damaging Het
Nt5dc1 A T 10: 34,180,932 (GRCm39) N439K probably benign Het
Or4a2 A G 2: 89,248,145 (GRCm39) I204T probably benign Het
Or4n4b G A 14: 50,536,281 (GRCm39) L162F probably benign Het
Or4p7 T C 2: 88,222,224 (GRCm39) V211A possibly damaging Het
Or51f1 A T 7: 102,506,278 (GRCm39) Y70* probably null Het
Or5d43 T C 2: 88,105,445 (GRCm39) probably benign Het
Or7g27 A C 9: 19,250,109 (GRCm39) M118L probably damaging Het
Otogl T C 10: 107,722,843 (GRCm39) N296S probably benign Het
Patj A G 4: 98,383,298 (GRCm39) N789D probably benign Het
Pcsk6 A G 7: 65,693,314 (GRCm39) D851G possibly damaging Het
Peg3 T C 7: 6,712,723 (GRCm39) H833R probably damaging Het
Pira1 T C 7: 3,742,023 (GRCm39) E119G not run Het
Plekha5 A G 6: 140,526,161 (GRCm39) D933G probably benign Het
Pnma1 G A 12: 84,193,903 (GRCm39) R267C probably damaging Het
Ppp3cb T A 14: 20,558,619 (GRCm39) H481L probably benign Het
Prl8a8 T C 13: 27,695,418 (GRCm39) probably null Het
Ptma GGAAGAAG GGAAGAAGAAG 1: 86,457,261 (GRCm39) probably benign Het
Ptpro C A 6: 137,359,647 (GRCm39) L406I probably benign Het
Rbpj T C 5: 53,758,276 (GRCm39) S18P probably benign Het
Rhbg C T 3: 88,154,886 (GRCm39) V173M probably damaging Het
Rps6kc1 A G 1: 190,532,254 (GRCm39) S583P probably benign Het
Ryr1 T C 7: 28,794,630 (GRCm39) S1217G probably benign Het
S1pr1 A T 3: 115,505,922 (GRCm39) I224N probably damaging Het
Sall1 C T 8: 89,757,681 (GRCm39) D808N probably benign Het
Shoc2 T C 19: 53,976,467 (GRCm39) V119A probably benign Het
Spata31h1 A T 10: 82,124,798 (GRCm39) Y2737* probably null Het
Spata31h1 T C 10: 82,152,264 (GRCm39) Y34C unknown Het
Ssh2 A T 11: 77,328,542 (GRCm39) E369D probably benign Het
Stx1b C T 7: 127,406,531 (GRCm39) V273M possibly damaging Het
Syne2 A G 12: 76,012,654 (GRCm39) H2615R probably benign Het
Tmc8 T C 11: 117,675,758 (GRCm39) I225T probably benign Het
Tmem126b A G 7: 90,121,854 (GRCm39) I52T probably benign Het
Top2b G A 14: 16,416,605 (GRCm38) D1122N probably benign Het
Trav13-2 T A 14: 53,872,363 (GRCm39) S7T possibly damaging Het
Ttc1 A T 11: 43,636,189 (GRCm39) L18Q probably damaging Het
Ttn A T 2: 76,567,553 (GRCm39) I27780N probably damaging Het
Ubfd1 T C 7: 121,666,635 (GRCm39) S44P probably benign Het
Vmn1r89 A G 7: 12,953,632 (GRCm39) K123E probably damaging Het
Vmn2r62 A C 7: 42,437,316 (GRCm39) F389L possibly damaging Het
Vps35l C T 7: 118,393,800 (GRCm39) probably null Het
Zdhhc11 T A 13: 74,121,726 (GRCm39) M79K possibly damaging Het
Zfp202 G T 9: 40,118,640 (GRCm39) V18F possibly damaging Het
Zfp39 A G 11: 58,781,869 (GRCm39) F298L possibly damaging Het
Znrf1 G A 8: 112,264,071 (GRCm39) G100D probably damaging 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
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
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'- TCCTGAACCCCAAGAATTCTTC -3'
(R):5'- AGCCATGCTGAACTCGTACC -3'

Sequencing Primer
(F):5'- TGAACCCCAAGAATTCTTCCCACTC -3'
(R):5'- TGTGACCCCGTTCACGAC -3'
Posted On 2019-10-17