Incidental Mutation 'R5377:Cecr2'
| ID |
425608 |
| 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 |
042845-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5377 (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 120733530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 506
(N506D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100993]
[ENSMUST00000112686]
[ENSMUST00000129803]
|
| AlphaFold |
E9Q2Z1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100993
AA Change: N506D
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: N506D
| 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 |
possibly damaging
Transcript: ENSMUST00000112686
AA Change: N506D
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: N506D
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
G |
T |
6: 121,622,212 (GRCm39) |
V372F |
probably benign |
Het |
| Adcy10 |
G |
A |
1: 165,347,464 (GRCm39) |
C393Y |
probably damaging |
Het |
| Adgrg7 |
A |
C |
16: 56,550,669 (GRCm39) |
I681S |
possibly damaging |
Het |
| Akap8l |
T |
C |
17: 32,540,485 (GRCm39) |
|
probably benign |
Het |
| Akr1a1 |
A |
T |
4: 116,497,092 (GRCm39) |
V156E |
probably damaging |
Het |
| Alk |
T |
G |
17: 72,202,734 (GRCm39) |
D1167A |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,620,453 (GRCm39) |
|
probably null |
Het |
| Aspm |
T |
A |
1: 139,385,221 (GRCm39) |
N288K |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,398,133 (GRCm39) |
|
probably null |
Het |
| Asxl2 |
G |
A |
12: 3,524,618 (GRCm39) |
|
probably null |
Het |
| Atp6v0a1 |
A |
G |
11: 100,946,413 (GRCm39) |
H802R |
probably damaging |
Het |
| B4galnt1 |
A |
G |
10: 127,007,691 (GRCm39) |
T531A |
possibly damaging |
Het |
| Crebrf |
T |
C |
17: 26,978,839 (GRCm39) |
V509A |
probably damaging |
Het |
| Cyp4f40 |
A |
T |
17: 32,894,590 (GRCm39) |
I413F |
probably null |
Het |
| Defb12 |
C |
A |
8: 19,164,342 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
T |
C |
11: 69,312,674 (GRCm39) |
E4297G |
probably damaging |
Het |
| Dpysl5 |
A |
T |
5: 30,948,857 (GRCm39) |
N371Y |
probably damaging |
Het |
| Eef1d |
G |
T |
15: 75,775,038 (GRCm39) |
T207N |
probably benign |
Het |
| Esrrb |
C |
T |
12: 86,565,783 (GRCm39) |
Q416* |
probably null |
Het |
| Exd2 |
T |
C |
12: 80,536,222 (GRCm39) |
L284P |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,287,739 (GRCm39) |
I595F |
probably benign |
Het |
| Gm9920 |
A |
G |
15: 54,972,371 (GRCm39) |
|
probably benign |
Het |
| Hephl1 |
T |
C |
9: 14,981,084 (GRCm39) |
K783E |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,055,277 (GRCm39) |
S1052P |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 58,002,252 (GRCm39) |
I192V |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,586,803 (GRCm39) |
D722G |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,672,216 (GRCm39) |
V1080A |
possibly damaging |
Het |
| Lpin1 |
C |
T |
12: 16,613,656 (GRCm39) |
G504S |
probably damaging |
Het |
| Lrit2 |
A |
C |
14: 36,791,140 (GRCm39) |
Q273P |
possibly damaging |
Het |
| Mlkl |
T |
A |
8: 112,054,569 (GRCm39) |
E189D |
probably benign |
Het |
| Mttp |
C |
T |
3: 137,810,790 (GRCm39) |
R608H |
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,238,908 (GRCm39) |
V2011A |
probably benign |
Het |
| Nos2 |
A |
T |
11: 78,848,317 (GRCm39) |
I1075F |
probably benign |
Het |
| Npat |
A |
G |
9: 53,461,336 (GRCm39) |
|
probably null |
Het |
| Nucks1 |
T |
C |
1: 131,846,771 (GRCm39) |
F16L |
probably damaging |
Het |
| Nus1 |
T |
C |
10: 52,305,309 (GRCm39) |
S150P |
possibly damaging |
Het |
| Odad1 |
C |
T |
7: 45,591,506 (GRCm39) |
R257* |
probably null |
Het |
| Oga |
A |
T |
19: 45,746,461 (GRCm39) |
Y779* |
probably null |
Het |
| Or4c123 |
G |
T |
2: 89,127,506 (GRCm39) |
T36K |
probably damaging |
Het |
| Or8b35 |
A |
T |
9: 37,903,908 (GRCm39) |
Y40F |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,731,367 (GRCm39) |
T3290A |
unknown |
Het |
| Pign |
A |
T |
1: 105,585,537 (GRCm39) |
F4Y |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,696,406 (GRCm39) |
N233D |
possibly damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,397,652 (GRCm39) |
M1325L |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scaf11 |
T |
A |
15: 96,315,001 (GRCm39) |
H1227L |
possibly damaging |
Het |
| Sec31b |
G |
T |
19: 44,507,076 (GRCm39) |
P840T |
probably damaging |
Het |
| Slc16a9 |
T |
A |
10: 70,118,958 (GRCm39) |
L426I |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc34a1 |
T |
C |
13: 23,996,575 (GRCm39) |
S27P |
probably damaging |
Het |
| Tacc1 |
A |
G |
8: 25,672,299 (GRCm39) |
S310P |
possibly damaging |
Het |
| Tmem245 |
G |
A |
4: 56,947,084 (GRCm39) |
R110C |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,735,152 (GRCm39) |
Y953C |
probably damaging |
Het |
| Trpm7 |
C |
A |
2: 126,684,775 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,644,320 (GRCm39) |
V4561I |
probably benign |
Het |
| Vmn1r192 |
C |
T |
13: 22,371,801 (GRCm39) |
V140I |
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 84,656,026 (GRCm39) |
I330N |
probably damaging |
Het |
| Vmn2r99 |
T |
C |
17: 19,599,531 (GRCm39) |
V405A |
probably damaging |
Het |
| Wdhd1 |
A |
C |
14: 47,509,678 (GRCm39) |
V172G |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,677,817 (GRCm39) |
R2956C |
possibly damaging |
Het |
| Zfp446 |
T |
C |
7: 12,716,178 (GRCm39) |
L283P |
possibly damaging |
Het |
| Zfp82 |
T |
C |
7: 29,756,591 (GRCm39) |
K164E |
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 |
|
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 |
|
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'- GTCACAGCCATAAAGCCTTG -3'
(R):5'- TACTCTGATCGTCCCCTGAG -3'
Sequencing Primer
(F):5'- GCCTTGAGCAGAATACTTATAGAAAC -3'
(R):5'- CCGGGGGCAATGATTTTCC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation