Incidental Mutation 'FR4449:Brd2'
ID 511546
Institutional Source Beutler Lab
Gene Symbol Brd2
Ensembl Gene ENSMUSG00000024335
Gene Name bromodomain containing 2
Synonyms Frg-1, D17H6S113E, Ring3, Rnf3, Fsrg1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # FR4449 ()
Quality Score 217.468
Status Not validated
Chromosome 17
Chromosomal Location 34330993-34341581 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA to CAAAAAAAAAAAAAAA at 34335310 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: 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
Predicted Effect probably benign
Transcript: ENSMUST00000173204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155286
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
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.5%
  • 10x: 98.3%
  • 20x: 95.8%
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: 128 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 GGTATTGCATTTCTTATCT G 5: 4,031,214 (GRCm39) probably benign Homo
Amfr C G 8: 94,731,787 (GRCm39) G30R probably damaging Homo
Anxa7 C T 14: 20,519,479 (GRCm39) G113E probably damaging Homo
Apc AGC AGCCAATAACGC 18: 34,415,058 (GRCm39) probably benign Het
Apc AATAAAGC AATAAAGCCGATAAAGC 18: 34,415,053 (GRCm39) probably benign Het
Apol6 TTT TTTGATT 15: 76,935,643 (GRCm39) probably null Homo
Arid1b CGG CGGTGG 17: 5,045,864 (GRCm39) probably benign Het
B430218F22Rik CGGCG CGGCGATGGCG 13: 118,523,387 (GRCm39) probably benign Homo
Blm CCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCT 7: 80,162,656 (GRCm39) probably benign Het
Btnl10 AAG AAGGAG 11: 58,814,754 (GRCm39) probably benign Homo
Cacna1a ACC ACCCCC 8: 85,365,343 (GRCm39) probably benign Het
Cacna1a ACC ACCGCC 8: 85,365,352 (GRCm39) probably benign Het
Cacna1a ACC ACCCCC 8: 85,365,349 (GRCm39) probably benign Het
Calhm1 TGGC TGGCTGTGGCTGCGGC 19: 47,129,713 (GRCm39) probably benign Het
Ccdc15 C CTTTAT 9: 37,226,454 (GRCm39) probably null Het
Ccdc85c CCG CCGACG 12: 108,240,875 (GRCm39) probably benign Het
Ccnk TTCCCAC T 12: 108,168,766 (GRCm39) probably benign Het
Cdhr2 AGTC AGTCGTC 13: 54,873,737 (GRCm39) probably benign Homo
Cdk15 A ATCTAAAAGG 1: 59,296,982 (GRCm39) probably benign Homo
Cdx1 GCTG GCTGCTCCTG 18: 61,152,953 (GRCm39) probably benign Het
Cfap46 T C 7: 139,218,711 (GRCm39) probably benign Homo
Cgref1 TTC TTCGTC 5: 31,091,120 (GRCm39) probably benign Het
Cgref1 CTT CTTATT 5: 31,091,122 (GRCm39) probably null Homo
Cluh G GACTGAA 11: 74,560,358 (GRCm39) probably benign Het
Cntnap1 AGCCCC AGCCCCCGCCCC 11: 101,080,395 (GRCm39) probably benign Het
Cntnap1 AGCC AGCCCCCGCC 11: 101,080,419 (GRCm39) probably benign Het
Cpne1 CCTACT CCT 2: 155,915,422 (GRCm39) probably benign Homo
Cracdl T A 1: 37,664,116 (GRCm39) E594V probably benign Homo
Cracdl C A 1: 37,664,117 (GRCm39) E594* probably null Homo
Cttnbp2 CTGCTG CTGCTGTTGCTG 6: 18,367,461 (GRCm39) probably benign Het
Cul9 TCC TCCGCC 17: 46,811,782 (GRCm39) probably benign Het
Dbr1 AGGAGG AGGAGGGGGAGG 9: 99,465,727 (GRCm39) probably benign Het
Dbr1 AGGAGG AGGAGGCGGAGG 9: 99,465,739 (GRCm39) probably benign Het
Dbr1 GGAGGA GGAGGAAGAGGA 9: 99,465,749 (GRCm39) probably benign Het
Dhx8 CG CGAGACAG 11: 101,629,020 (GRCm39) probably benign Homo
Dhx8 CG CGAGACAG 11: 101,629,032 (GRCm39) probably benign Het
Dhx8 G GAGACCC 11: 101,629,033 (GRCm39) probably benign Het
Dhx8 AGACCG AGACCGTGACCG 11: 101,629,010 (GRCm39) probably benign Homo
Dhx8 AGACCGGGACCGGGACCGGGACCGGGAC AGACCGGGACCGGGAC 11: 101,629,016 (GRCm39) probably benign Het
Dspp CGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG CGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG 5: 104,326,254 (GRCm39) probably benign Het
Dusp10 G T 1: 183,769,253 (GRCm39) C73F probably damaging Homo
Erich3 GA GAGAA 3: 154,469,150 (GRCm39) probably benign Homo
Ermn CTT CTTGTT 2: 57,938,086 (GRCm39) probably benign Het
Fgd6 GGAT G 10: 93,880,182 (GRCm39) probably benign Homo
G530012D18Rik GAGAGAGAGAGAGAGAGACAGAGA GAGAGA 1: 85,504,901 (GRCm39) probably benign Homo
Gar1 GCCGCCTCCGCC GCCGCC 3: 129,624,353 (GRCm39) probably benign Homo
Gatad2b AGAC A 3: 90,249,224 (GRCm39) probably benign Het
Gigyf2 C T 1: 87,356,307 (GRCm39) probably benign Het
Gm16519 A AGAT 17: 71,236,333 (GRCm39) probably benign Homo
Gm4340 AGC AGCGGC 10: 104,031,946 (GRCm39) probably benign Het
Gm4340 GCA GCATCA 10: 104,031,947 (GRCm39) probably benign Het
Gm4340 AGC AGCGGC 10: 104,031,943 (GRCm39) probably benign Het
Gpatch11 AGGAAG AGGAAGCGGAAG 17: 79,149,597 (GRCm39) probably benign Het
Gpatch11 GAAGAG GAAGAGCAAGAG 17: 79,149,605 (GRCm39) probably benign Het
Gpatch11 GG GGCAGACG 17: 79,149,610 (GRCm39) probably benign Het
Hoxa10 T A 6: 52,211,166 (GRCm39) Q250L possibly damaging Homo
Igkv12-89 GCA GCAGCAGCAACA 6: 68,812,264 (GRCm39) probably benign Homo
Igsf10 G A 3: 59,226,531 (GRCm39) R2381C probably damaging Homo
Il17rd GGC GGCAGC 14: 26,804,635 (GRCm39) probably benign Het
Ints5 G A 19: 8,874,594 (GRCm39) R851Q probably benign Het
Isg20l2 AGA AGAGGA 3: 87,839,020 (GRCm39) probably benign Het
Kcng4 G T 8: 120,360,258 (GRCm39) Y39* probably null Homo
Kifc5b A C 17: 27,143,191 (GRCm39) E321A probably benign Het
Klra2 TCCACAG TCCACAGAAACCCACAG 6: 131,198,809 (GRCm39) probably null Homo
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,285,794 (GRCm39) probably benign Het
Kmt2b CCTCCT CCTCCTGCTCCT 7: 30,285,786 (GRCm39) probably benign Het
Kmt2b TCCTCC TCCTCCACCTCC 7: 30,285,791 (GRCm39) probably benign Het
Krt10 ACC ACCACCTCC 11: 99,280,093 (GRCm39) probably benign Het
Las1l GA GAGAA X: 94,984,438 (GRCm39) probably benign Het
Lce1m AC ACTGCTGCTGCCGC 3: 92,925,459 (GRCm39) probably benign Het
Leo1 GTACCATGCA G 9: 75,357,855 (GRCm39) probably benign Het
Lkaaear1 CA CATCTCCAGCTCTA 2: 181,339,364 (GRCm39) probably benign Het
Maml2 ACAGCAGCAGCAACAGCAGCAGCAGCAGCA ACAGCAACAGCAGCAGCAGCAGCA 9: 13,532,752 (GRCm39) probably benign Homo
Med12l CAG CAGTAG 3: 59,183,384 (GRCm39) probably null Het
Mgat4e GTCGTAGTCATCGT GTCGT 1: 134,468,735 (GRCm39) probably benign Homo
Mn1 GCA GCAACA 5: 111,567,576 (GRCm39) probably benign Het
Morn4 AGGCAGTGAG AGGCAGTGAGTCTGGCAGTGAG 19: 42,064,548 (GRCm39) probably benign Het
Nat8f2 T A 6: 85,844,668 (GRCm39) L231F possibly damaging Homo
Noc2l C CTGA 4: 156,324,558 (GRCm39) probably benign Het
Nrg3 T TAGACAC 14: 38,119,228 (GRCm39) probably benign Het
Or8b41 A G 9: 38,054,484 (GRCm39) I13V probably benign Homo
Piezo1 G A 8: 123,222,308 (GRCm39) R503W probably damaging Homo
Pih1d2 CTCTTGCGAGGATC CTC 9: 50,532,927 (GRCm39) probably null Homo
Pik3ap1 G GGAA 19: 41,270,385 (GRCm39) probably benign Het
Ppp1r3f C A X: 7,426,575 (GRCm39) G562V probably damaging Homo
Ptms TTC TTCGTC 6: 124,891,422 (GRCm39) probably benign Het
Ptpn23 G T 9: 110,216,701 (GRCm39) P1052T probably benign Homo
Qrich2 AACT A 11: 116,347,025 (GRCm39) probably benign Homo
Raet1d A ATATCCTCTCTGG 10: 22,246,814 (GRCm39) probably benign Het
Rbm33 AGCAGCAGCAGCACCAGCCGCAGCAGCAGCA AGCAGCAGCAGCA 5: 28,599,166 (GRCm39) probably benign Homo
Rrbp1 TGCTTCTCAAAGGTGGCTGCCTTGGCTTC TGCTTC 2: 143,809,376 (GRCm39) probably null Het
Sbp CAACAAAGATGCTGA CAACAAAGATGCTGAGAACAAAGATGCTGA 17: 24,164,338 (GRCm39) probably benign Het
Setd1a G A 7: 127,384,498 (GRCm39) probably benign Het
Sfswap CCCACTCAG CCCACTCAGTCCACTCAG 5: 129,646,812 (GRCm39) probably benign Het
Sfswap CCACTCAGC CCACTCAGCTCACTCAGC 5: 129,646,813 (GRCm39) probably benign Het
Sh3pxd2b T TGTCTGC 11: 32,373,065 (GRCm39) probably benign Homo
Six3 CGG CGGGGG 17: 85,928,790 (GRCm39) probably benign Het
Slc12a1 C CTTTGGCCACAACACG 2: 124,996,136 (GRCm39) probably benign Homo
Slc26a8 CTCTCTG C 17: 28,857,290 (GRCm39) probably benign Het
Spata31h1 TTCAGT TT 10: 82,121,303 (GRCm39) probably null Homo
Srebf2 G T 15: 82,069,536 (GRCm39) A693S probably damaging Homo
Sry ACTG ACTGCTG Y: 2,662,818 (GRCm39) probably benign Het
Sry TGCTG TGCTGCTG Y: 2,662,832 (GRCm39) probably benign Homo
Ston1 G A 17: 88,942,953 (GRCm39) V120M probably benign Homo
Supt20 CAGCAG CAGCAGGAGCAG 3: 54,635,070 (GRCm39) probably benign Het
Tbl3 TG TGTGG 17: 24,921,518 (GRCm39) probably benign Homo
Tctn3 AG AGAAGCCG 19: 40,595,646 (GRCm39) probably benign Het
Tesk1 CCC CCCACC 4: 43,447,002 (GRCm39) probably benign Homo
Tmc2 T G 2: 130,082,116 (GRCm39) V433G probably damaging Het
Tmprss13 G A 9: 45,239,856 (GRCm39) A55T unknown Het
Tnfaip8 ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC AC 18: 50,179,906 (GRCm39) probably null Homo
Tob1 CAG CAGAAG 11: 94,105,294 (GRCm39) probably benign Het
Tob1 AGC AGCCGC 11: 94,105,301 (GRCm39) probably benign Het
Tpsab1 TTGCACCTCCT TT 17: 25,562,756 (GRCm39) probably benign Homo
Triobp GTC GTCTTC 15: 78,877,589 (GRCm39) probably benign Het
Ubtf CCT CCTACT 11: 102,197,774 (GRCm39) probably null Het
Vps13b G T 15: 35,847,103 (GRCm39) A2629S probably damaging Homo
Xpnpep3 G C 15: 81,311,623 (GRCm39) D110H possibly damaging Het
Zc3h13 CGAGATGTG CGAGATGTGTGAGATGTG 14: 75,561,041 (GRCm39) probably null Homo
Zfhx3 GCAACAGCA GCAACAGCAACAACAGCA 8: 109,682,726 (GRCm39) probably benign Homo
Zfp26 C A 9: 20,349,842 (GRCm39) A241S probably benign Homo
Zfp335 CTC CTCATC 2: 164,749,397 (GRCm39) probably benign Het
Zfp335 CTCT CTCTTCT 2: 164,749,403 (GRCm39) probably benign Het
Zfp598 ACCACC ACCACCTCCACC 17: 24,899,750 (GRCm39) probably benign Het
Zfp598 ACCACC ACCACCCCCACC 17: 24,899,759 (GRCm39) probably benign Het
Zfp831 TCC TCCACC 2: 174,487,264 (GRCm39) probably benign Het
Zfp831 CTC CTCGTC 2: 174,487,275 (GRCm39) probably benign Het
Zfp978 G T 4: 147,475,401 (GRCm39) S316I 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
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
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'- TTGGATAGCACTTTCCAGCCC -3'
(R):5'- AGAAAAGGTATCAGGAACCTCC -3'

Sequencing Primer
(F):5'- CCTGTTGGGACTAATGACCAGTAC -3'
(R):5'- ACCTCCTAGTGGGAATTAAATTACC -3'
Posted On 2018-04-05