Incidental Mutation 'R8289:Cecr2'
| ID |
638571 |
| 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 |
067711-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8289 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
120643330-120748151 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120735077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 771
(N771S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100993]
[ENSMUST00000112686]
[ENSMUST00000129803]
|
| AlphaFold |
E9Q2Z1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100993
AA Change: N771S
PolyPhen 2
Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: N771S
| 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: N743S
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: N743S
| 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: 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (62/62) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
C |
11: 109,927,515 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
C |
A |
5: 89,923,282 (GRCm39) |
D175Y |
possibly damaging |
Het |
| Adra1b |
G |
A |
11: 43,726,315 (GRCm39) |
P201S |
probably damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,742,242 (GRCm39) |
V610A |
possibly damaging |
Het |
| Ap5s1 |
A |
C |
2: 131,054,379 (GRCm39) |
H62P |
probably benign |
Het |
| Apeh |
A |
G |
9: 107,963,444 (GRCm39) |
S593P |
probably damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,028,692 (GRCm39) |
V289A |
possibly damaging |
Het |
| Atoh1 |
A |
G |
6: 64,706,893 (GRCm39) |
E196G |
probably damaging |
Het |
| Atp1b3 |
G |
A |
9: 96,215,602 (GRCm39) |
S271L |
probably benign |
Het |
| Atp6v0a1 |
A |
G |
11: 100,924,931 (GRCm39) |
R339G |
probably damaging |
Het |
| Calb2 |
T |
C |
8: 110,894,690 (GRCm39) |
H27R |
possibly damaging |
Het |
| Camkk2 |
A |
C |
5: 122,894,689 (GRCm39) |
L201R |
probably damaging |
Het |
| Car15 |
A |
G |
16: 17,654,580 (GRCm39) |
|
probably null |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Csmd1 |
T |
A |
8: 16,108,716 (GRCm39) |
I1896F |
probably damaging |
Het |
| Cubn |
C |
T |
2: 13,491,613 (GRCm39) |
V145I |
probably benign |
Het |
| Cuedc1 |
G |
A |
11: 88,073,381 (GRCm39) |
S182N |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,337,358 (GRCm39) |
E718V |
probably damaging |
Het |
| Cyp7a1 |
G |
A |
4: 6,268,295 (GRCm39) |
P477S |
probably damaging |
Het |
| Dcaf17 |
T |
A |
2: 70,885,718 (GRCm39) |
W16R |
|
Het |
| Dhx8 |
T |
A |
11: 101,631,571 (GRCm39) |
M388K |
probably benign |
Het |
| Dnah14 |
T |
A |
1: 181,543,780 (GRCm39) |
Y2453* |
probably null |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| F830016B08Rik |
G |
A |
18: 60,433,360 (GRCm39) |
E148K |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,404,424 (GRCm39) |
T434A |
possibly damaging |
Het |
| Ide |
A |
G |
19: 37,290,952 (GRCm39) |
L368P |
|
Het |
| Ide |
G |
C |
19: 37,290,953 (GRCm39) |
L368V |
probably null |
Het |
| Ifi206 |
T |
C |
1: 173,308,032 (GRCm39) |
I655V |
|
Het |
| Insrr |
A |
G |
3: 87,721,501 (GRCm39) |
M1136V |
probably damaging |
Het |
| Kcne2 |
A |
G |
16: 92,093,707 (GRCm39) |
E78G |
probably damaging |
Het |
| Lrrc23 |
A |
T |
6: 124,755,267 (GRCm39) |
L90H |
probably damaging |
Het |
| Magel2 |
A |
C |
7: 62,028,875 (GRCm39) |
Q593P |
unknown |
Het |
| Mrgpra3 |
G |
A |
7: 47,239,468 (GRCm39) |
H153Y |
possibly damaging |
Het |
| Msln |
A |
G |
17: 25,967,880 (GRCm39) |
V595A |
possibly damaging |
Het |
| Mvb12a |
T |
C |
8: 71,995,703 (GRCm39) |
|
probably null |
Het |
| Myo7a |
T |
G |
7: 97,726,376 (GRCm39) |
M966L |
probably benign |
Het |
| Ncoa5 |
C |
T |
2: 164,854,982 (GRCm39) |
D47N |
possibly damaging |
Het |
| Neurl4 |
T |
A |
11: 69,800,206 (GRCm39) |
|
probably null |
Het |
| Or1e29 |
T |
A |
11: 73,667,839 (GRCm39) |
M105L |
probably benign |
Het |
| Or4d1 |
T |
C |
11: 87,805,589 (GRCm39) |
T48A |
probably benign |
Het |
| Or5p75-ps1 |
T |
A |
7: 108,108,125 (GRCm39) |
H287Q |
unknown |
Het |
| Or8b37 |
T |
A |
9: 37,959,000 (GRCm39) |
C161S |
probably benign |
Het |
| Osbpl7 |
T |
A |
11: 96,947,405 (GRCm39) |
S480T |
probably benign |
Het |
| Podnl1 |
T |
C |
8: 84,858,552 (GRCm39) |
L484P |
|
Het |
| Polr3gl |
G |
T |
3: 96,489,228 (GRCm39) |
|
probably benign |
Het |
| Prkaa1 |
G |
T |
15: 5,206,563 (GRCm39) |
V438L |
possibly damaging |
Het |
| Prune2 |
A |
T |
19: 17,100,373 (GRCm39) |
H1959L |
probably benign |
Het |
| Rad50 |
A |
T |
11: 53,589,685 (GRCm39) |
L172* |
probably null |
Het |
| Samsn1 |
C |
A |
16: 75,685,684 (GRCm39) |
G25W |
probably damaging |
Het |
| Sbno1 |
T |
G |
5: 124,542,068 (GRCm39) |
L362F |
probably damaging |
Het |
| Slc26a6 |
G |
A |
9: 108,733,230 (GRCm39) |
R43H |
probably benign |
Het |
| Slc35f5 |
T |
G |
1: 125,490,252 (GRCm39) |
Y49* |
probably null |
Het |
| Slc41a2 |
T |
C |
10: 83,137,044 (GRCm39) |
I288V |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,403,344 (GRCm39) |
M804V |
probably benign |
Het |
| Smc6 |
T |
A |
12: 11,324,052 (GRCm39) |
S66T |
probably benign |
Het |
| Ssh1 |
T |
C |
5: 114,080,445 (GRCm39) |
D995G |
probably benign |
Het |
| Stk11 |
G |
T |
10: 79,961,740 (GRCm39) |
|
probably benign |
Het |
| Sycp1 |
A |
G |
3: 102,748,353 (GRCm39) |
I813T |
probably benign |
Het |
| Tmem121b |
A |
T |
6: 120,469,722 (GRCm39) |
S332T |
possibly damaging |
Het |
| Treml4 |
A |
C |
17: 48,581,456 (GRCm39) |
I244L |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,172,524 (GRCm39) |
C1117* |
probably null |
Het |
| Wdr35 |
A |
G |
12: 9,058,020 (GRCm39) |
I526V |
probably benign |
Het |
| Zap70 |
T |
C |
1: 36,820,218 (GRCm39) |
W500R |
probably damaging |
Het |
| Zfr |
G |
T |
15: 12,135,357 (GRCm39) |
V49F |
noncoding transcript |
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 |
|
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 |
|
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'- CCTTACAGCTTGGGCAGATG -3'
(R):5'- TGCATATACCCCGAGGAAGG -3'
Sequencing Primer
(F):5'- GGCAGATGAATTGTCCCAGTC -3'
(R):5'- CCCGAGGAAGGAACTCCATG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation