Incidental Mutation 'R1862:Cecr2'
ID |
204019 |
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 |
039885-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1862 (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 C
at 120734902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 685
(Y685H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108306
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100993]
[ENSMUST00000112686]
[ENSMUST00000129803]
|
AlphaFold |
E9Q2Z1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100993
AA Change: Y713H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098556 Gene: ENSMUSG00000071226 AA Change: Y713H
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: Y685H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108306 Gene: ENSMUSG00000071226 AA Change: Y685H
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 |
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: 97.5%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 90.5%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox2 |
T |
A |
14: 8,241,416 (GRCm38) |
E565D |
probably benign |
Het |
Adam30 |
A |
T |
3: 98,069,429 (GRCm39) |
K421* |
probably null |
Het |
Atp6v1b1 |
A |
G |
6: 83,726,834 (GRCm39) |
|
probably null |
Het |
Cacna1a |
A |
T |
8: 85,142,559 (GRCm39) |
I96F |
possibly damaging |
Het |
Card10 |
G |
A |
15: 78,664,714 (GRCm39) |
R747W |
probably damaging |
Het |
Cdh8 |
T |
A |
8: 99,917,026 (GRCm39) |
D363V |
probably damaging |
Het |
Cibar1 |
C |
T |
4: 12,155,717 (GRCm39) |
V306I |
possibly damaging |
Het |
Cmklr1 |
T |
C |
5: 113,752,468 (GRCm39) |
T178A |
probably damaging |
Het |
Col16a1 |
G |
A |
4: 129,986,575 (GRCm39) |
|
probably null |
Het |
Col4a1 |
C |
T |
8: 11,276,439 (GRCm39) |
|
probably benign |
Het |
Coro2a |
T |
A |
4: 46,548,797 (GRCm39) |
I166F |
possibly damaging |
Het |
Cry2 |
T |
C |
2: 92,254,911 (GRCm39) |
H148R |
probably damaging |
Het |
Crygd |
T |
C |
1: 65,101,133 (GRCm39) |
Y154C |
probably benign |
Het |
Cubn |
T |
C |
2: 13,313,372 (GRCm39) |
Y3066C |
probably damaging |
Het |
Defb15 |
C |
T |
8: 22,420,002 (GRCm39) |
E42K |
possibly damaging |
Het |
Dnah12 |
A |
G |
14: 26,418,553 (GRCm39) |
D147G |
probably benign |
Het |
Dnah12 |
A |
T |
14: 26,430,412 (GRCm39) |
Y340F |
probably benign |
Het |
Dot1l |
G |
T |
10: 80,619,373 (GRCm39) |
R193L |
probably damaging |
Het |
Dusp29 |
A |
G |
14: 21,736,757 (GRCm39) |
V115A |
probably benign |
Het |
Esd |
A |
C |
14: 74,979,514 (GRCm39) |
Y119S |
probably damaging |
Het |
Esp36 |
A |
G |
17: 38,730,330 (GRCm39) |
|
probably benign |
Het |
Etfbkmt |
T |
A |
6: 149,045,649 (GRCm39) |
M1K |
probably null |
Het |
Exph5 |
A |
G |
9: 53,287,548 (GRCm39) |
H1543R |
probably benign |
Het |
Fbxo16 |
A |
G |
14: 65,508,252 (GRCm39) |
T23A |
probably damaging |
Het |
Gorasp2 |
C |
A |
2: 70,509,808 (GRCm39) |
H136Q |
probably damaging |
Het |
Hdc |
T |
A |
2: 126,439,853 (GRCm39) |
I367F |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,514,651 (GRCm39) |
V3574M |
probably benign |
Het |
Ilvbl |
A |
G |
10: 78,419,958 (GRCm39) |
D592G |
probably benign |
Het |
Inmt |
G |
A |
6: 55,151,868 (GRCm39) |
A34V |
probably damaging |
Het |
Ints9 |
A |
C |
14: 65,263,862 (GRCm39) |
H378P |
probably benign |
Het |
Kcnh7 |
T |
A |
2: 62,618,098 (GRCm39) |
I464L |
possibly damaging |
Het |
Kcnt2 |
T |
A |
1: 140,353,068 (GRCm39) |
V259D |
probably damaging |
Het |
Lipo3 |
A |
G |
19: 33,762,092 (GRCm39) |
F135S |
probably damaging |
Het |
Lrba |
T |
C |
3: 86,680,510 (GRCm39) |
|
probably null |
Het |
Mapk1 |
T |
A |
16: 16,844,293 (GRCm39) |
S22T |
probably benign |
Het |
Mbd3l2 |
T |
C |
9: 18,356,217 (GRCm39) |
S181P |
possibly damaging |
Het |
Mgat5 |
C |
T |
1: 127,387,706 (GRCm39) |
P554L |
probably damaging |
Het |
Mki67 |
T |
C |
7: 135,301,090 (GRCm39) |
T1315A |
probably benign |
Het |
Mprip |
C |
T |
11: 59,649,047 (GRCm39) |
T917M |
possibly damaging |
Het |
Mroh3 |
T |
A |
1: 136,113,726 (GRCm39) |
I688F |
probably benign |
Het |
Myo1d |
A |
T |
11: 80,553,874 (GRCm39) |
Y536N |
probably damaging |
Het |
Neb |
C |
T |
2: 52,052,199 (GRCm39) |
|
probably null |
Het |
Noc2l |
A |
G |
4: 156,322,165 (GRCm39) |
R161G |
probably benign |
Het |
Nup54 |
T |
A |
5: 92,567,426 (GRCm39) |
I375L |
possibly damaging |
Het |
Nup93 |
T |
C |
8: 95,032,730 (GRCm39) |
F539L |
probably damaging |
Het |
Or10x1 |
T |
A |
1: 174,197,018 (GRCm39) |
H178Q |
probably damaging |
Het |
Or2n1e |
A |
G |
17: 38,586,235 (GRCm39) |
E191G |
probably damaging |
Het |
Or5p57 |
A |
C |
7: 107,665,932 (GRCm39) |
Y24* |
probably null |
Het |
Or8b12 |
T |
A |
9: 37,658,264 (GRCm39) |
M278K |
probably benign |
Het |
Panx1 |
A |
T |
9: 14,918,724 (GRCm39) |
D378E |
probably damaging |
Het |
Papss1 |
T |
A |
3: 131,288,945 (GRCm39) |
V170D |
possibly damaging |
Het |
Pcnx1 |
T |
C |
12: 81,965,506 (GRCm39) |
S558P |
probably damaging |
Het |
Pde3a |
G |
T |
6: 141,433,239 (GRCm39) |
A757S |
probably damaging |
Het |
Pde3a |
T |
A |
6: 141,196,079 (GRCm39) |
I255N |
probably damaging |
Het |
Pdzph1 |
A |
G |
17: 59,229,578 (GRCm39) |
Y1027H |
probably damaging |
Het |
Pkhd1 |
G |
T |
1: 20,621,244 (GRCm39) |
R805S |
probably benign |
Het |
Polr1a |
G |
A |
6: 71,886,187 (GRCm39) |
G14D |
probably damaging |
Het |
Prg4 |
T |
A |
1: 150,336,420 (GRCm39) |
D60V |
probably damaging |
Het |
Ptgr3 |
T |
C |
18: 84,113,443 (GRCm39) |
V373A |
possibly damaging |
Het |
Ptprc |
T |
C |
1: 138,039,965 (GRCm39) |
S311G |
probably benign |
Het |
Rapgefl1 |
G |
A |
11: 98,733,035 (GRCm39) |
R205K |
probably benign |
Het |
Rcan2 |
A |
T |
17: 44,347,980 (GRCm39) |
|
probably null |
Het |
Rock1 |
A |
G |
18: 10,079,207 (GRCm39) |
I1087T |
probably damaging |
Het |
Sectm1b |
A |
G |
11: 120,945,768 (GRCm39) |
I191T |
possibly damaging |
Het |
Septin4 |
A |
G |
11: 87,458,061 (GRCm39) |
H145R |
possibly damaging |
Het |
Setd1b |
T |
C |
5: 123,285,676 (GRCm39) |
S241P |
unknown |
Het |
Slco1a8 |
T |
C |
6: 141,949,149 (GRCm39) |
M76V |
possibly damaging |
Het |
Srpk2 |
T |
C |
5: 23,729,148 (GRCm39) |
K497R |
probably benign |
Het |
Sspo |
T |
C |
6: 48,467,940 (GRCm39) |
S4296P |
probably damaging |
Het |
Syne4 |
T |
C |
7: 30,016,308 (GRCm39) |
V168A |
probably benign |
Het |
Tank |
T |
C |
2: 61,480,256 (GRCm39) |
F264S |
probably damaging |
Het |
Ticrr |
T |
C |
7: 79,344,955 (GRCm39) |
S1607P |
probably damaging |
Het |
Trim30a |
A |
G |
7: 104,060,405 (GRCm39) |
V457A |
probably damaging |
Het |
Trim43b |
T |
A |
9: 88,967,624 (GRCm39) |
K336N |
probably damaging |
Het |
Trim47 |
T |
C |
11: 115,996,963 (GRCm39) |
Q598R |
probably damaging |
Het |
Tspan12 |
T |
C |
6: 21,851,022 (GRCm39) |
N18S |
probably damaging |
Het |
Ubap2 |
A |
G |
4: 41,221,607 (GRCm39) |
S231P |
probably benign |
Het |
Vit |
A |
G |
17: 78,930,175 (GRCm39) |
D380G |
probably damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,041,942 (GRCm39) |
N258D |
possibly damaging |
Het |
Vmn2r52 |
C |
T |
7: 9,907,333 (GRCm39) |
C131Y |
possibly damaging |
Het |
Zfp58 |
A |
T |
13: 67,639,307 (GRCm39) |
F395I |
probably damaging |
Het |
Zfp940 |
C |
A |
7: 29,544,435 (GRCm39) |
G491C |
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 |
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 |
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'- CTGCAGCAATAATTAAGAGGTAGC -3'
(R):5'- CGTCCAGGGTTTGTAGTACC -3'
Sequencing Primer
(F):5'- AAGAGGTAGCATCTTTCAAGGTTTG -3'
(R):5'- GTAGTACCATGGTTCCCATTCCAAAC -3'
|
Posted On |
2014-06-23 |