Incidental Mutation 'R7596:Cecr2'
| ID |
587717 |
| 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 |
045671-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7596 (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 120739167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1298
(N1298S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100993]
[ENSMUST00000112686]
|
| AlphaFold |
E9Q2Z1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100993
AA Change: N1298S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: N1298S
| 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: N1270S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: N1270S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
95% (53/56) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
G |
A |
16: 88,556,224 (GRCm39) |
S146N |
probably damaging |
Het |
| Adam26b |
A |
C |
8: 43,973,237 (GRCm39) |
D588E |
probably benign |
Het |
| Ankrd13b |
C |
A |
11: 77,363,140 (GRCm39) |
R547L |
probably benign |
Het |
| Bckdk |
G |
T |
7: 127,505,572 (GRCm39) |
E232* |
probably null |
Het |
| C8a |
T |
C |
4: 104,711,064 (GRCm39) |
K244E |
possibly damaging |
Het |
| Cad |
A |
G |
5: 31,226,392 (GRCm39) |
I1145V |
probably benign |
Het |
| Cd28 |
C |
A |
1: 60,802,487 (GRCm39) |
H135Q |
possibly damaging |
Het |
| Ceacam19 |
A |
G |
7: 19,615,812 (GRCm39) |
I209T |
possibly damaging |
Het |
| Cpne5 |
C |
T |
17: 29,445,191 (GRCm39) |
D38N |
possibly damaging |
Het |
| Dcn |
A |
T |
10: 97,345,871 (GRCm39) |
I228F |
probably damaging |
Het |
| Gm5591 |
T |
G |
7: 38,219,608 (GRCm39) |
I422L |
probably benign |
Het |
| Gnptab |
T |
G |
10: 88,279,232 (GRCm39) |
F1201V |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,890,859 (GRCm39) |
V1319A |
probably damaging |
Het |
| Htr3b |
T |
C |
9: 48,847,361 (GRCm39) |
N385D |
probably benign |
Het |
| Ikbip |
A |
T |
10: 90,918,891 (GRCm39) |
|
probably benign |
Het |
| Kcnk1 |
T |
C |
8: 126,722,350 (GRCm39) |
L51P |
probably damaging |
Het |
| Lcn2 |
A |
G |
2: 32,275,721 (GRCm39) |
Y160H |
probably damaging |
Het |
| Lig1 |
T |
C |
7: 13,039,923 (GRCm39) |
S712P |
probably damaging |
Het |
| Lrrc19 |
T |
G |
4: 94,531,592 (GRCm39) |
M7L |
probably benign |
Het |
| Lrrc4b |
C |
T |
7: 44,111,310 (GRCm39) |
T394M |
probably damaging |
Het |
| Map7 |
A |
G |
10: 20,153,927 (GRCm39) |
N681S |
unknown |
Het |
| Mdga2 |
A |
T |
12: 66,552,897 (GRCm39) |
M912K |
probably damaging |
Het |
| Mlst8 |
C |
T |
17: 24,697,084 (GRCm39) |
|
probably null |
Het |
| Ms4a13 |
A |
T |
19: 11,147,329 (GRCm39) |
V195D |
unknown |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Nr4a2 |
G |
C |
2: 56,998,243 (GRCm39) |
F574L |
probably damaging |
Het |
| Nup107 |
T |
C |
10: 117,613,065 (GRCm39) |
N288D |
probably damaging |
Het |
| Or11g26 |
A |
T |
14: 50,753,002 (GRCm39) |
T114S |
probably benign |
Het |
| Or13a1 |
T |
A |
6: 116,471,158 (GRCm39) |
V196D |
probably benign |
Het |
| Or5b3 |
C |
T |
19: 13,388,511 (GRCm39) |
H193Y |
probably benign |
Het |
| Pcolce |
A |
G |
5: 137,605,087 (GRCm39) |
|
probably null |
Het |
| Pik3cg |
A |
G |
12: 32,254,740 (GRCm39) |
F416L |
probably damaging |
Het |
| Podnl1 |
A |
G |
8: 84,853,024 (GRCm39) |
I65V |
|
Het |
| Prpf8 |
T |
C |
11: 75,382,330 (GRCm39) |
F387S |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,697,534 (GRCm39) |
Y677C |
probably damaging |
Het |
| Rhpn1 |
A |
G |
15: 75,584,162 (GRCm39) |
T430A |
probably benign |
Het |
| Rnf187 |
T |
C |
11: 58,829,241 (GRCm39) |
R124G |
possibly damaging |
Het |
| Rpl9-ps6 |
C |
T |
19: 32,443,783 (GRCm39) |
V57I |
probably benign |
Het |
| Samhd1 |
A |
T |
2: 156,943,754 (GRCm39) |
F587I |
probably damaging |
Het |
| Slc30a6 |
A |
G |
17: 74,722,664 (GRCm39) |
T244A |
probably benign |
Het |
| Slc35f4 |
T |
A |
14: 49,543,666 (GRCm39) |
Y310F |
probably damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,318,662 (GRCm39) |
Y648C |
probably damaging |
Het |
| Smc5 |
A |
C |
19: 23,191,533 (GRCm39) |
V889G |
probably damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Spopfm2 |
T |
A |
3: 94,083,737 (GRCm39) |
T25S |
probably benign |
Het |
| Tango2 |
A |
G |
16: 18,120,574 (GRCm39) |
V229A |
probably damaging |
Het |
| Tnks1bp1 |
A |
G |
2: 84,893,057 (GRCm39) |
T995A |
probably benign |
Het |
| Trio |
A |
T |
15: 27,749,912 (GRCm39) |
I2263N |
probably damaging |
Het |
| Ttc28 |
T |
C |
5: 111,427,990 (GRCm39) |
F1829L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,638,923 (GRCm39) |
S13920P |
probably damaging |
Het |
| Ube2b |
T |
C |
11: 51,877,570 (GRCm39) |
N133S |
probably damaging |
Het |
| Ubn1 |
T |
A |
16: 4,899,422 (GRCm39) |
H1055Q |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,197,533 (GRCm39) |
T705M |
unknown |
Het |
| Vmn2r109 |
A |
T |
17: 20,760,942 (GRCm39) |
M805K |
probably damaging |
Het |
| Vsig10 |
T |
C |
5: 117,472,848 (GRCm39) |
V147A |
possibly damaging |
Het |
| Zbtb16 |
C |
A |
9: 48,743,704 (GRCm39) |
V203L |
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 |
|
|
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 |
|
|
|
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'- CCTGTCTAGTCTGCAAGGTTG -3'
(R):5'- CCTGACAGCAGTAGAGGGAATC -3'
Sequencing Primer
(F):5'- CTAGTCTGCAAGGTTGTGAAAC -3'
(R):5'- CTCTGGAGAGAGGCCATTGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation