Incidental Mutation 'R5153:Cecr2'
ID |
475457 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cecr2
|
Ensembl Gene |
ENSMUSG00000071226 |
Gene Name |
CECR2, histone acetyl-lysine reader |
Synonyms |
cat eye syndrome chromosome region, candidate 2, Gtl4, 2610101O16Rik, 2810409N01Rik |
MMRRC Submission |
042735-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5153 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
120643330-120748151 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120711521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 183
(E183G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108306
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100993]
[ENSMUST00000112686]
[ENSMUST00000129803]
|
AlphaFold |
E9Q2Z1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100993
AA Change: E183G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000098556 Gene: ENSMUSG00000071226 AA Change: E183G
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
low complexity region
|
194 |
209 |
N/A |
INTRINSIC |
low complexity region
|
211 |
222 |
N/A |
INTRINSIC |
Pfam:WHIM3
|
244 |
284 |
5.2e-11 |
PFAM |
coiled coil region
|
322 |
382 |
N/A |
INTRINSIC |
BROMO
|
416 |
520 |
5.09e-32 |
SMART |
low complexity region
|
536 |
551 |
N/A |
INTRINSIC |
low complexity region
|
781 |
796 |
N/A |
INTRINSIC |
low complexity region
|
839 |
855 |
N/A |
INTRINSIC |
low complexity region
|
890 |
907 |
N/A |
INTRINSIC |
low complexity region
|
1173 |
1187 |
N/A |
INTRINSIC |
low complexity region
|
1202 |
1223 |
N/A |
INTRINSIC |
low complexity region
|
1355 |
1366 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112686
AA Change: E183G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000108306 Gene: ENSMUSG00000071226 AA Change: E183G
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
low complexity region
|
194 |
209 |
N/A |
INTRINSIC |
low complexity region
|
211 |
222 |
N/A |
INTRINSIC |
coiled coil region
|
322 |
382 |
N/A |
INTRINSIC |
BROMO
|
416 |
520 |
5.09e-32 |
SMART |
low complexity region
|
536 |
551 |
N/A |
INTRINSIC |
low complexity region
|
753 |
768 |
N/A |
INTRINSIC |
low complexity region
|
811 |
827 |
N/A |
INTRINSIC |
low complexity region
|
862 |
879 |
N/A |
INTRINSIC |
low complexity region
|
1145 |
1159 |
N/A |
INTRINSIC |
low complexity region
|
1174 |
1195 |
N/A |
INTRINSIC |
low complexity region
|
1327 |
1338 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124634
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129803
|
SMART Domains |
Protein: ENSMUSP00000118542 Gene: ENSMUSG00000071226
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
coiled coil region
|
90 |
150 |
N/A |
INTRINSIC |
Pfam:Bromodomain
|
191 |
234 |
1.1e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204732
|
Coding Region Coverage |
- 1x: 99.3%
- 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 bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] PHENOTYPE: Homozygous mutant mice display varied penetrance of exencephaly depending on genetic background. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
A |
T |
11: 99,728,073 (GRCm39) |
C257S |
unknown |
Het |
4930596D02Rik |
C |
A |
14: 35,532,212 (GRCm39) |
R121L |
probably benign |
Het |
Aadacl4fm1 |
T |
A |
4: 144,248,837 (GRCm39) |
M68K |
probably benign |
Het |
Acin1 |
A |
G |
14: 54,883,070 (GRCm39) |
V194A |
probably benign |
Het |
Acsm1 |
T |
C |
7: 119,239,950 (GRCm39) |
I298T |
possibly damaging |
Het |
Aoc1 |
A |
G |
6: 48,885,681 (GRCm39) |
N729D |
probably benign |
Het |
Apobr |
C |
T |
7: 126,186,904 (GRCm39) |
T20I |
possibly damaging |
Het |
Arsb |
A |
G |
13: 94,077,106 (GRCm39) |
E491G |
probably benign |
Het |
AW209491 |
C |
G |
13: 14,811,764 (GRCm39) |
Q206E |
probably benign |
Het |
Camsap1 |
A |
T |
2: 25,823,630 (GRCm39) |
N1473K |
probably damaging |
Het |
Casp8 |
A |
G |
1: 58,884,004 (GRCm39) |
Q457R |
probably benign |
Het |
Ccdc154 |
G |
A |
17: 25,387,315 (GRCm39) |
A350T |
probably damaging |
Het |
Cep295 |
A |
T |
9: 15,268,925 (GRCm39) |
S39T |
probably benign |
Het |
Cep350 |
A |
T |
1: 155,811,692 (GRCm39) |
I416K |
probably damaging |
Het |
Cidea |
C |
T |
18: 67,500,490 (GRCm39) |
T184M |
probably damaging |
Het |
Cnot10 |
G |
A |
9: 114,442,803 (GRCm39) |
A468V |
probably damaging |
Het |
Cstdc1 |
A |
G |
2: 148,625,360 (GRCm39) |
Q98R |
probably benign |
Het |
Defb22 |
A |
T |
2: 152,327,722 (GRCm39) |
N154K |
unknown |
Het |
Dnah17 |
A |
T |
11: 117,973,800 (GRCm39) |
C1915* |
probably null |
Het |
Dnah2 |
T |
C |
11: 69,411,759 (GRCm39) |
T288A |
possibly damaging |
Het |
Dop1b |
T |
A |
16: 93,570,891 (GRCm39) |
M1512K |
probably damaging |
Het |
Dsp |
T |
G |
13: 38,366,282 (GRCm39) |
I572S |
probably damaging |
Het |
Eepd1 |
A |
G |
9: 25,498,049 (GRCm39) |
H378R |
probably benign |
Het |
Elapor1 |
A |
T |
3: 108,380,063 (GRCm39) |
Y349N |
possibly damaging |
Het |
Emilin2 |
A |
G |
17: 71,580,497 (GRCm39) |
M743T |
possibly damaging |
Het |
Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
F2rl2 |
A |
G |
13: 95,833,620 (GRCm39) |
T17A |
probably benign |
Het |
Fbxl8 |
T |
G |
8: 105,993,739 (GRCm39) |
C32G |
probably damaging |
Het |
Fbxw17 |
A |
G |
13: 50,573,897 (GRCm39) |
T38A |
probably damaging |
Het |
Flii |
A |
T |
11: 60,607,512 (GRCm39) |
L882Q |
possibly damaging |
Het |
Focad |
T |
G |
4: 88,278,121 (GRCm39) |
S1197A |
unknown |
Het |
H1f11-ps |
A |
G |
19: 47,159,356 (GRCm39) |
V73A |
probably damaging |
Het |
Heatr5b |
G |
A |
17: 79,102,536 (GRCm39) |
R1281* |
probably null |
Het |
Khdc3 |
A |
G |
9: 73,010,720 (GRCm39) |
Q190R |
probably benign |
Het |
Krt9 |
T |
A |
11: 100,082,068 (GRCm39) |
D244V |
probably damaging |
Het |
Ldhd |
T |
C |
8: 112,353,724 (GRCm39) |
E463G |
probably benign |
Het |
Lig4 |
A |
T |
8: 10,023,003 (GRCm39) |
V259E |
possibly damaging |
Het |
Luc7l3 |
A |
T |
11: 94,186,806 (GRCm39) |
|
probably benign |
Het |
Man1a2 |
T |
C |
3: 100,563,579 (GRCm39) |
E22G |
probably damaging |
Het |
Mmp23 |
T |
G |
4: 155,735,797 (GRCm39) |
D258A |
probably damaging |
Het |
Msantd2 |
C |
T |
9: 37,434,509 (GRCm39) |
R250* |
probably null |
Het |
Mynn |
T |
C |
3: 30,665,738 (GRCm39) |
S457P |
probably benign |
Het |
Nectin1 |
C |
T |
9: 43,714,795 (GRCm39) |
H50Y |
probably damaging |
Het |
Or10a3b |
T |
C |
7: 108,444,906 (GRCm39) |
I104V |
probably benign |
Het |
Or2d3c |
C |
T |
7: 106,525,776 (GRCm39) |
V297M |
possibly damaging |
Het |
Or4a47 |
G |
A |
2: 89,665,578 (GRCm39) |
T237I |
possibly damaging |
Het |
Or6c6c |
A |
G |
10: 129,541,026 (GRCm39) |
N93S |
probably benign |
Het |
Pfkfb2 |
G |
A |
1: 130,629,527 (GRCm39) |
T303M |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,368,705 (GRCm39) |
D841G |
probably benign |
Het |
Plxna4 |
A |
T |
6: 32,201,094 (GRCm39) |
|
probably null |
Het |
Podnl1 |
C |
T |
8: 84,857,272 (GRCm39) |
H294Y |
probably benign |
Het |
Ppig |
T |
A |
2: 69,579,994 (GRCm39) |
D509E |
unknown |
Het |
Ppp1r16a |
T |
A |
15: 76,578,596 (GRCm39) |
Y433* |
probably null |
Het |
Prdm1 |
A |
C |
10: 44,326,221 (GRCm39) |
V134G |
possibly damaging |
Het |
Prx |
T |
C |
7: 27,217,901 (GRCm39) |
S940P |
probably damaging |
Het |
Ptprd |
C |
T |
4: 75,930,339 (GRCm39) |
V731I |
probably damaging |
Het |
Qki |
A |
G |
17: 10,457,820 (GRCm39) |
|
probably null |
Het |
Rassf6 |
T |
C |
5: 90,754,699 (GRCm39) |
K206R |
possibly damaging |
Het |
Rdh16f2 |
G |
A |
10: 127,712,124 (GRCm39) |
E194K |
possibly damaging |
Het |
Rims1 |
C |
A |
1: 22,522,328 (GRCm39) |
G457* |
probably null |
Het |
Ripk1 |
T |
G |
13: 34,197,279 (GRCm39) |
I123R |
probably damaging |
Het |
Rnf111 |
A |
T |
9: 70,383,422 (GRCm39) |
S170R |
probably benign |
Het |
Shc3 |
A |
T |
13: 51,615,413 (GRCm39) |
F181L |
probably damaging |
Het |
Siglec1 |
A |
C |
2: 130,927,497 (GRCm39) |
V103G |
probably damaging |
Het |
Slc26a11 |
G |
T |
11: 119,268,085 (GRCm39) |
A488S |
possibly damaging |
Het |
Smoc2 |
A |
T |
17: 14,556,841 (GRCm39) |
T97S |
probably damaging |
Het |
Son |
T |
C |
16: 91,451,910 (GRCm39) |
I219T |
possibly damaging |
Het |
Sptbn1 |
A |
T |
11: 30,071,510 (GRCm39) |
I1474N |
possibly damaging |
Het |
Syt16 |
A |
T |
12: 74,269,542 (GRCm39) |
D127V |
possibly damaging |
Het |
Tet1 |
G |
T |
10: 62,714,357 (GRCm39) |
N479K |
possibly damaging |
Het |
Thsd7a |
G |
A |
6: 12,338,654 (GRCm39) |
A1192V |
probably benign |
Het |
Tmed3 |
G |
A |
9: 89,581,825 (GRCm39) |
R213* |
probably null |
Het |
Traj57 |
A |
G |
14: 54,396,016 (GRCm39) |
|
probably benign |
Het |
Trpv1 |
G |
T |
11: 73,129,342 (GRCm39) |
R86S |
probably benign |
Het |
Usp48 |
T |
A |
4: 137,343,673 (GRCm39) |
F434L |
possibly damaging |
Het |
Vmn2r59 |
A |
C |
7: 41,691,834 (GRCm39) |
|
probably null |
Het |
Vmn2r71 |
T |
A |
7: 85,268,430 (GRCm39) |
I211N |
possibly damaging |
Het |
Vps13b |
T |
A |
15: 35,422,599 (GRCm39) |
D186E |
probably damaging |
Het |
Vps33a |
A |
G |
5: 123,696,691 (GRCm39) |
S321P |
probably damaging |
Het |
Wdr12 |
A |
T |
1: 60,133,670 (GRCm39) |
D19E |
probably benign |
Het |
Zc3h12c |
A |
G |
9: 52,037,947 (GRCm39) |
F278L |
probably damaging |
Het |
Zpld1 |
T |
C |
16: 55,067,007 (GRCm39) |
T183A |
probably damaging |
Het |
Zswim2 |
G |
T |
2: 83,770,010 (GRCm39) |
T68K |
possibly damaging |
Het |
|
Other mutations in Cecr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00435:Cecr2
|
APN |
6 |
120,733,678 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00782:Cecr2
|
APN |
6 |
120,738,582 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01137:Cecr2
|
APN |
6 |
120,738,989 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01446:Cecr2
|
APN |
6 |
120,735,560 (GRCm39) |
missense |
probably benign |
|
IGL02108:Cecr2
|
APN |
6 |
120,739,519 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02195:Cecr2
|
APN |
6 |
120,708,367 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02689:Cecr2
|
APN |
6 |
120,739,128 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03189:Cecr2
|
APN |
6 |
120,739,391 (GRCm39) |
missense |
probably benign |
0.13 |
PIT1430001:Cecr2
|
UTSW |
6 |
120,735,440 (GRCm39) |
missense |
probably benign |
0.01 |
R0200:Cecr2
|
UTSW |
6 |
120,738,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R0586:Cecr2
|
UTSW |
6 |
120,734,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R0715:Cecr2
|
UTSW |
6 |
120,735,159 (GRCm39) |
missense |
probably benign |
0.21 |
R0784:Cecr2
|
UTSW |
6 |
120,735,110 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1185:Cecr2
|
UTSW |
6 |
120,735,166 (GRCm39) |
nonsense |
probably null |
|
R1185:Cecr2
|
UTSW |
6 |
120,735,166 (GRCm39) |
nonsense |
probably null |
|
R1185:Cecr2
|
UTSW |
6 |
120,735,166 (GRCm39) |
nonsense |
probably null |
|
R1343:Cecr2
|
UTSW |
6 |
120,731,672 (GRCm39) |
missense |
probably damaging |
0.99 |
R1349:Cecr2
|
UTSW |
6 |
120,734,564 (GRCm39) |
missense |
probably damaging |
0.99 |
R1386:Cecr2
|
UTSW |
6 |
120,739,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R1438:Cecr2
|
UTSW |
6 |
120,738,433 (GRCm39) |
nonsense |
probably null |
|
R1602:Cecr2
|
UTSW |
6 |
120,732,548 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1664:Cecr2
|
UTSW |
6 |
120,738,987 (GRCm39) |
missense |
probably damaging |
0.96 |
R1731:Cecr2
|
UTSW |
6 |
120,735,141 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1817:Cecr2
|
UTSW |
6 |
120,708,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1818:Cecr2
|
UTSW |
6 |
120,708,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1819:Cecr2
|
UTSW |
6 |
120,708,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1862:Cecr2
|
UTSW |
6 |
120,734,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R1907:Cecr2
|
UTSW |
6 |
120,738,121 (GRCm39) |
missense |
probably benign |
0.03 |
R1911:Cecr2
|
UTSW |
6 |
120,739,526 (GRCm39) |
unclassified |
probably benign |
|
R2135:Cecr2
|
UTSW |
6 |
120,697,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R2273:Cecr2
|
UTSW |
6 |
120,733,702 (GRCm39) |
missense |
probably benign |
0.00 |
R2275:Cecr2
|
UTSW |
6 |
120,733,702 (GRCm39) |
missense |
probably benign |
0.00 |
R3713:Cecr2
|
UTSW |
6 |
120,735,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R4271:Cecr2
|
UTSW |
6 |
120,739,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R4706:Cecr2
|
UTSW |
6 |
120,732,539 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4873:Cecr2
|
UTSW |
6 |
120,727,877 (GRCm39) |
missense |
probably damaging |
0.99 |
R4875:Cecr2
|
UTSW |
6 |
120,727,877 (GRCm39) |
missense |
probably damaging |
0.99 |
R5137:Cecr2
|
UTSW |
6 |
120,732,478 (GRCm39) |
missense |
probably benign |
|
R5377:Cecr2
|
UTSW |
6 |
120,733,530 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5598:Cecr2
|
UTSW |
6 |
120,708,407 (GRCm39) |
splice site |
probably null |
|
R5651:Cecr2
|
UTSW |
6 |
120,732,521 (GRCm39) |
missense |
probably damaging |
0.96 |
R5680:Cecr2
|
UTSW |
6 |
120,738,387 (GRCm39) |
missense |
probably benign |
|
R5813:Cecr2
|
UTSW |
6 |
120,739,169 (GRCm39) |
missense |
probably damaging |
0.99 |
R5970:Cecr2
|
UTSW |
6 |
120,697,868 (GRCm39) |
missense |
probably damaging |
0.98 |
R6255:Cecr2
|
UTSW |
6 |
120,735,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R6266:Cecr2
|
UTSW |
6 |
120,738,647 (GRCm39) |
missense |
probably benign |
|
R6630:Cecr2
|
UTSW |
6 |
120,739,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R6737:Cecr2
|
UTSW |
6 |
120,714,084 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6754:Cecr2
|
UTSW |
6 |
120,734,539 (GRCm39) |
missense |
probably damaging |
0.98 |
R6807:Cecr2
|
UTSW |
6 |
120,711,503 (GRCm39) |
splice site |
probably null |
|
R7187:Cecr2
|
UTSW |
6 |
120,733,647 (GRCm39) |
missense |
probably benign |
|
R7256:Cecr2
|
UTSW |
6 |
120,739,490 (GRCm39) |
missense |
probably benign |
|
R7282:Cecr2
|
UTSW |
6 |
120,738,582 (GRCm39) |
missense |
|
|
R7548:Cecr2
|
UTSW |
6 |
120,738,675 (GRCm39) |
missense |
|
|
R7596:Cecr2
|
UTSW |
6 |
120,739,167 (GRCm39) |
missense |
probably benign |
|
R7802:Cecr2
|
UTSW |
6 |
120,720,808 (GRCm39) |
missense |
probably benign |
0.45 |
R8112:Cecr2
|
UTSW |
6 |
120,739,175 (GRCm39) |
missense |
probably benign |
0.00 |
R8289:Cecr2
|
UTSW |
6 |
120,735,077 (GRCm39) |
missense |
probably benign |
0.24 |
R8294:Cecr2
|
UTSW |
6 |
120,710,747 (GRCm39) |
missense |
probably damaging |
0.99 |
R8470:Cecr2
|
UTSW |
6 |
120,733,894 (GRCm39) |
missense |
probably benign |
0.21 |
R8697:Cecr2
|
UTSW |
6 |
120,710,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R8887:Cecr2
|
UTSW |
6 |
120,715,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R9371:Cecr2
|
UTSW |
6 |
120,739,229 (GRCm39) |
missense |
probably benign |
0.01 |
R9416:Cecr2
|
UTSW |
6 |
120,735,538 (GRCm39) |
missense |
|
|
R9477:Cecr2
|
UTSW |
6 |
120,720,743 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9588:Cecr2
|
UTSW |
6 |
120,733,770 (GRCm39) |
missense |
possibly damaging |
0.87 |
X0012:Cecr2
|
UTSW |
6 |
120,710,735 (GRCm39) |
missense |
probably damaging |
0.99 |
X0063:Cecr2
|
UTSW |
6 |
120,739,032 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Cecr2
|
UTSW |
6 |
120,697,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACACCATTTGTTGCTAGGAAGGTG -3'
(R):5'- TGAGGGGAAACTAAGGTACCTTC -3'
Sequencing Primer
(F):5'- AAATGTCAGTTTTCTCTGATTCCAC -3'
(R):5'- AGGTACCTTCTAGTATGAGAGAGTC -3'
|
Posted On |
2017-04-24 |