Incidental Mutation 'R2247:Brd2'
| ID |
240918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brd2
|
| Ensembl Gene |
ENSMUSG00000024335 |
| Gene Name |
bromodomain containing 2 |
| Synonyms |
Frg-1, D17H6S113E, Ring3, Rnf3, Fsrg1 |
| MMRRC Submission |
040247-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2247 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34330993-34341581 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34333389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 421
(F421L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025193]
[ENSMUST00000095347]
[ENSMUST00000114242]
[ENSMUST00000151986]
[ENSMUST00000154232]
|
| AlphaFold |
Q7JJ13 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025193
AA Change: F421L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000025193
Gene: ENSMUSG00000024335
AA Change: F421L
| 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: F29L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092990
Gene: ENSMUSG00000024335
AA Change: F29L
| 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: F421L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109880
Gene: ENSMUSG00000024335
AA Change: F421L
| 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 damaging
Transcript: ENSMUST00000151986
AA Change: F421L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117359
Gene: ENSMUSG00000024335
AA Change: F421L
| 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: ENSMUST00000173204
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,184,435 (GRCm39) |
E70G |
possibly damaging |
Het |
| Ash1l |
C |
A |
3: 88,914,674 (GRCm39) |
P1768Q |
possibly damaging |
Het |
| Bicra |
C |
A |
7: 15,723,159 (GRCm39) |
E119D |
probably benign |
Het |
| Cspp1 |
A |
T |
1: 10,136,685 (GRCm39) |
Q182L |
possibly damaging |
Het |
| Dnah7b |
A |
G |
1: 46,316,223 (GRCm39) |
D3112G |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,168,369 (GRCm39) |
I697F |
probably damaging |
Het |
| Ephb1 |
A |
T |
9: 101,874,010 (GRCm39) |
S555T |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,946,198 (GRCm39) |
D1697V |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,088,627 (GRCm39) |
K1160R |
probably damaging |
Het |
| Jak2 |
T |
C |
19: 29,261,036 (GRCm39) |
V344A |
probably benign |
Het |
| Kcnab3 |
A |
G |
11: 69,221,016 (GRCm39) |
T168A |
probably damaging |
Het |
| Kctd18 |
A |
T |
1: 58,006,801 (GRCm39) |
H16Q |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myh11 |
A |
G |
16: 14,095,423 (GRCm39) |
L113P |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,225,384 (GRCm39) |
I250F |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,101,319 (GRCm39) |
Y426C |
probably damaging |
Het |
| Or10ab4 |
C |
T |
7: 107,654,989 (GRCm39) |
R267C |
probably benign |
Het |
| Or51ab3 |
T |
A |
7: 103,201,097 (GRCm39) |
|
probably null |
Het |
| Pbrm1 |
A |
G |
14: 30,796,850 (GRCm39) |
H897R |
probably damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,209 (GRCm39) |
S320G |
probably benign |
Het |
| Plcl2 |
T |
C |
17: 50,913,873 (GRCm39) |
V294A |
probably damaging |
Het |
| Psapl1 |
A |
G |
5: 36,362,410 (GRCm39) |
E334G |
probably benign |
Het |
| Pwwp3a |
A |
G |
10: 80,076,259 (GRCm39) |
Y483C |
probably damaging |
Het |
| Raly |
A |
G |
2: 154,705,953 (GRCm39) |
H277R |
possibly damaging |
Het |
| Ranbp9 |
T |
C |
13: 43,565,901 (GRCm39) |
K462E |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,304,136 (GRCm39) |
T490A |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,561,413 (GRCm39) |
H142R |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,829,042 (GRCm39) |
G234S |
probably null |
Het |
| Shisa3 |
G |
A |
5: 67,768,666 (GRCm39) |
V189M |
probably benign |
Het |
| Slc25a36 |
A |
T |
9: 96,982,191 (GRCm39) |
L28Q |
probably damaging |
Het |
| Slc38a8 |
A |
G |
8: 120,212,389 (GRCm39) |
M318T |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,529,721 (GRCm39) |
M328K |
probably benign |
Het |
| Sp2 |
A |
C |
11: 96,852,844 (GRCm39) |
|
probably null |
Het |
| Sult2b1 |
A |
T |
7: 45,384,734 (GRCm39) |
I114N |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,900,202 (GRCm39) |
S803P |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,555,216 (GRCm39) |
D2603E |
probably benign |
Het |
| Tnfaip8 |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
18: 50,179,912 (GRCm39) |
|
probably null |
Het |
| Zfp189 |
T |
A |
4: 49,530,393 (GRCm39) |
C499S |
possibly damaging |
Het |
| Zfp236 |
A |
G |
18: 82,622,423 (GRCm39) |
F1621S |
possibly damaging |
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 |
|
|
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'- TTTAATGCCCAGCCACCCAG -3'
(R):5'- CTTCAAACTTGAACCCCAGGG -3'
Sequencing Primer
(F):5'- CCAGCTCCAACTTGATAAAAGATTGG -3'
(R):5'- GGGCACAGATCCCTAAGGTCATC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation