Incidental Mutation 'R0200:Cecr2'
ID |
23563 |
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 |
038457-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0200 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
120643330-120748151 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 120738758 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Valine
at position 1162
(F1162V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098556
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100993]
[ENSMUST00000112686]
|
AlphaFold |
E9Q2Z1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100993
AA Change: F1162V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098556 Gene: ENSMUSG00000071226 AA Change: F1162V
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 damaging
Transcript: ENSMUST00000112686
AA Change: F1134V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000108306 Gene: ENSMUSG00000071226 AA Change: F1134V
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 |
probably benign
Transcript: ENSMUST00000143563
|
SMART Domains |
Protein: ENSMUSP00000116993 Gene: ENSMUSG00000071226
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
20 |
N/A |
INTRINSIC |
low complexity region
|
63 |
79 |
N/A |
INTRINSIC |
low complexity region
|
114 |
131 |
N/A |
INTRINSIC |
low complexity region
|
155 |
174 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 86.2%
|
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
T |
C |
11: 84,336,502 (GRCm39) |
K466E |
probably damaging |
Het |
Abcc3 |
T |
C |
11: 94,245,900 (GRCm39) |
D1245G |
probably damaging |
Het |
Adam12 |
T |
C |
7: 133,576,145 (GRCm39) |
|
probably null |
Het |
Akap11 |
A |
G |
14: 78,748,193 (GRCm39) |
V1398A |
probably benign |
Het |
Ank1 |
T |
G |
8: 23,586,828 (GRCm39) |
L461R |
probably damaging |
Het |
Ankfn1 |
T |
C |
11: 89,332,792 (GRCm39) |
S402G |
possibly damaging |
Het |
Arhgef40 |
A |
C |
14: 52,234,431 (GRCm39) |
E911D |
probably damaging |
Het |
Atp2b1 |
C |
T |
10: 98,815,676 (GRCm39) |
Q107* |
probably null |
Het |
Cacng3 |
T |
A |
7: 122,271,008 (GRCm39) |
C4* |
probably null |
Het |
Cds1 |
G |
A |
5: 101,962,299 (GRCm39) |
V305M |
probably damaging |
Het |
Cfap70 |
A |
T |
14: 20,498,631 (GRCm39) |
Y19N |
probably damaging |
Het |
Chrm5 |
A |
G |
2: 112,311,065 (GRCm39) |
V17A |
probably benign |
Het |
Col20a1 |
T |
C |
2: 180,642,231 (GRCm39) |
I714T |
probably damaging |
Het |
Cpeb2 |
T |
A |
5: 43,419,119 (GRCm39) |
M156K |
possibly damaging |
Het |
Cstdc6 |
T |
C |
16: 36,143,386 (GRCm39) |
|
probably null |
Het |
Defb25 |
C |
A |
2: 152,464,332 (GRCm39) |
V71L |
probably benign |
Het |
Dhx35 |
A |
T |
2: 158,671,543 (GRCm39) |
M325L |
probably benign |
Het |
Dhx57 |
A |
T |
17: 80,558,902 (GRCm39) |
L1019H |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,046,403 (GRCm39) |
D3195V |
probably damaging |
Het |
Dph5 |
A |
G |
3: 115,722,352 (GRCm39) |
S277G |
probably benign |
Het |
Dpm1 |
C |
A |
2: 168,065,075 (GRCm39) |
|
probably null |
Het |
Dsg1a |
A |
T |
18: 20,473,995 (GRCm39) |
M1023L |
probably benign |
Het |
Egf |
A |
G |
3: 129,499,882 (GRCm39) |
Y252H |
probably benign |
Het |
Egf |
A |
G |
3: 129,531,198 (GRCm39) |
S126P |
probably damaging |
Het |
Enam |
T |
C |
5: 88,640,886 (GRCm39) |
W183R |
possibly damaging |
Het |
Foxn1 |
T |
C |
11: 78,251,866 (GRCm39) |
Y455C |
probably damaging |
Het |
Iars1 |
A |
T |
13: 49,879,678 (GRCm39) |
D983V |
possibly damaging |
Het |
Ikzf4 |
C |
A |
10: 128,470,545 (GRCm39) |
G325V |
probably damaging |
Het |
Il1rl1 |
T |
A |
1: 40,480,463 (GRCm39) |
W31R |
possibly damaging |
Het |
Ip6k3 |
C |
T |
17: 27,363,999 (GRCm39) |
D350N |
probably damaging |
Het |
Irgc |
T |
C |
7: 24,131,431 (GRCm39) |
D462G |
probably benign |
Het |
Itprid1 |
T |
C |
6: 55,874,941 (GRCm39) |
L297P |
probably benign |
Het |
Jph3 |
A |
G |
8: 122,511,572 (GRCm39) |
E520G |
probably benign |
Het |
Kcna2 |
T |
A |
3: 107,012,476 (GRCm39) |
D352E |
probably benign |
Het |
Klk4 |
T |
A |
7: 43,534,785 (GRCm39) |
I248N |
probably damaging |
Het |
Krtap16-1 |
T |
C |
11: 99,876,123 (GRCm39) |
Y427C |
probably damaging |
Het |
Lgr4 |
A |
G |
2: 109,801,035 (GRCm39) |
|
probably null |
Het |
Lhpp |
C |
T |
7: 132,212,406 (GRCm39) |
|
probably benign |
Het |
Lypd3 |
T |
A |
7: 24,339,656 (GRCm39) |
V241D |
probably damaging |
Het |
Lyz2 |
T |
A |
10: 117,116,678 (GRCm39) |
N57Y |
possibly damaging |
Het |
Man1a |
A |
G |
10: 53,950,594 (GRCm39) |
V176A |
probably damaging |
Het |
Mcm4 |
G |
A |
16: 15,447,503 (GRCm39) |
T487I |
probably benign |
Het |
Mettl21c |
T |
A |
1: 44,052,814 (GRCm39) |
I68F |
probably damaging |
Het |
Miip |
T |
A |
4: 147,946,720 (GRCm39) |
T313S |
probably damaging |
Het |
Minar2 |
A |
G |
18: 59,195,531 (GRCm39) |
|
probably null |
Het |
Mog |
A |
T |
17: 37,323,311 (GRCm39) |
I209K |
probably damaging |
Het |
Myo1c |
C |
A |
11: 75,563,008 (GRCm39) |
D997E |
probably benign |
Het |
Npc1 |
T |
C |
18: 12,352,261 (GRCm39) |
Y146C |
probably damaging |
Het |
Nploc4 |
A |
G |
11: 120,304,507 (GRCm39) |
L238P |
probably damaging |
Het |
Opa1 |
A |
G |
16: 29,432,947 (GRCm39) |
N544S |
probably benign |
Het |
Or2j6 |
T |
C |
7: 139,980,788 (GRCm39) |
Y57C |
probably damaging |
Het |
Or2v1 |
T |
A |
11: 49,025,874 (GRCm39) |
M285K |
probably damaging |
Het |
Or6k6 |
T |
C |
1: 173,945,078 (GRCm39) |
H168R |
probably benign |
Het |
Pam |
C |
T |
1: 97,822,126 (GRCm39) |
|
probably null |
Het |
Pdgfra |
T |
C |
5: 75,324,438 (GRCm39) |
Y98H |
probably damaging |
Het |
Plcz1 |
C |
T |
6: 139,936,459 (GRCm39) |
R590H |
probably damaging |
Het |
Plxdc1 |
T |
C |
11: 97,824,838 (GRCm39) |
Y339C |
probably damaging |
Het |
Plxna1 |
T |
C |
6: 89,300,575 (GRCm39) |
N1583S |
probably damaging |
Het |
Plxna4 |
C |
T |
6: 32,174,023 (GRCm39) |
V1191M |
probably damaging |
Het |
Polk |
T |
A |
13: 96,633,330 (GRCm39) |
N238Y |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,521,018 (GRCm39) |
N718S |
probably benign |
Het |
Rsrc1 |
A |
T |
3: 67,088,194 (GRCm39) |
H176L |
probably damaging |
Het |
Sbno1 |
T |
C |
5: 124,522,604 (GRCm39) |
D1072G |
probably damaging |
Het |
Scmh1 |
A |
G |
4: 120,341,028 (GRCm39) |
K238R |
probably damaging |
Het |
Senp7 |
A |
G |
16: 55,944,236 (GRCm39) |
T187A |
possibly damaging |
Het |
Slc12a4 |
T |
C |
8: 106,678,249 (GRCm39) |
R315G |
probably benign |
Het |
Slc16a10 |
A |
G |
10: 39,916,612 (GRCm39) |
V430A |
probably benign |
Het |
Slc26a7 |
T |
C |
4: 14,621,317 (GRCm39) |
D23G |
probably benign |
Het |
Slc28a2b |
T |
A |
2: 122,357,928 (GRCm39) |
*661R |
probably null |
Het |
Slc7a7 |
A |
G |
14: 54,615,259 (GRCm39) |
L246P |
probably damaging |
Het |
Spata7 |
T |
A |
12: 98,629,428 (GRCm39) |
S332T |
probably benign |
Het |
Spsb1 |
A |
G |
4: 149,982,673 (GRCm39) |
*274R |
probably null |
Het |
Sspo |
T |
G |
6: 48,463,349 (GRCm39) |
V3767G |
probably null |
Het |
Syt10 |
C |
A |
15: 89,711,144 (GRCm39) |
A130S |
probably benign |
Het |
Tgm6 |
T |
A |
2: 129,994,865 (GRCm39) |
|
probably null |
Het |
Them7 |
A |
C |
2: 105,128,262 (GRCm39) |
N81T |
probably damaging |
Het |
Tinag |
C |
A |
9: 76,859,217 (GRCm39) |
A464S |
probably damaging |
Het |
Tmem217 |
T |
G |
17: 29,745,284 (GRCm39) |
I149L |
probably benign |
Het |
Trp53rkb |
T |
G |
2: 166,637,603 (GRCm39) |
D186E |
probably damaging |
Het |
Vmn1r20 |
T |
C |
6: 57,409,084 (GRCm39) |
Y137H |
probably damaging |
Het |
Vmn1r60 |
T |
A |
7: 5,547,379 (GRCm39) |
L240F |
probably benign |
Het |
Vmn1r64 |
A |
G |
7: 5,886,817 (GRCm39) |
M242T |
probably benign |
Het |
Xkr4 |
T |
C |
1: 3,740,886 (GRCm39) |
N229S |
probably benign |
Het |
Zcchc2 |
T |
A |
1: 105,931,853 (GRCm39) |
L352M |
probably damaging |
Het |
Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
Zfp638 |
T |
C |
6: 83,944,336 (GRCm39) |
L1018P |
probably 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 |
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 |
|
R5153:Cecr2
|
UTSW |
6 |
120,711,521 (GRCm39) |
missense |
probably benign |
0.03 |
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'- GCCATGTACAGGACCGAATGCAAC -3'
(R):5'- GGACCAGAATTGTGTCCATCAGGAG -3'
Sequencing Primer
(F):5'- GCACAGATCCCAGTTTGATG -3'
(R):5'- TGCAGACTAGACAGGACATTCTTC -3'
|
Posted On |
2013-04-16 |