Incidental Mutation 'R4873:Cecr2'
| ID |
472580 |
| 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 |
042483-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4873 (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 120727877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 340
(L340P)
|
| 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: L340P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: L340P
| 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: L340P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: L340P
| 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 |
possibly damaging
Transcript: ENSMUST00000129803
AA Change: L108P
PolyPhen 2
Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118542
Gene: ENSMUSG00000071226
AA Change: L108P
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
98% (40/41) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak1 |
A |
T |
2: 32,521,189 (GRCm39) |
E119D |
probably benign |
Het |
| Alox5 |
A |
T |
6: 116,390,811 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
C |
11: 80,011,515 (GRCm39) |
V1294A |
probably damaging |
Het |
| BB019430 |
A |
G |
10: 58,539,865 (GRCm39) |
|
noncoding transcript |
Het |
| Bbs9 |
T |
C |
9: 22,490,011 (GRCm39) |
F261L |
probably benign |
Het |
| Catsperb |
A |
T |
12: 101,554,244 (GRCm39) |
N646I |
possibly damaging |
Het |
| Ccdc112 |
A |
G |
18: 46,429,356 (GRCm39) |
I114T |
probably damaging |
Het |
| Ces2e |
T |
A |
8: 105,653,817 (GRCm39) |
V85E |
probably damaging |
Het |
| Cnpy2 |
C |
A |
10: 128,161,964 (GRCm39) |
T79K |
probably damaging |
Het |
| Cntn4 |
G |
A |
6: 106,414,874 (GRCm39) |
R135H |
possibly damaging |
Het |
| Cyp3a16 |
C |
A |
5: 145,389,659 (GRCm39) |
M235I |
probably benign |
Het |
| Dll3 |
A |
G |
7: 27,995,860 (GRCm39) |
C314R |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,728,085 (GRCm39) |
N2928D |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dqx1 |
C |
A |
6: 83,037,993 (GRCm39) |
D460E |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,051,164 (GRCm39) |
C438R |
probably damaging |
Het |
| Ehd3 |
T |
G |
17: 74,112,299 (GRCm39) |
V21G |
probably damaging |
Het |
| Ero1b |
G |
A |
13: 12,619,325 (GRCm39) |
V440I |
probably damaging |
Het |
| Fpgt |
G |
A |
3: 154,793,550 (GRCm39) |
A159V |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,714,229 (GRCm39) |
L123P |
possibly damaging |
Het |
| Gm14496 |
A |
T |
2: 181,639,226 (GRCm39) |
R439W |
probably damaging |
Het |
| Gm4353 |
G |
C |
7: 115,683,648 (GRCm39) |
P49R |
probably damaging |
Het |
| Gsdmc2 |
C |
T |
15: 63,700,101 (GRCm39) |
A224T |
probably benign |
Het |
| Hnf1a |
T |
C |
5: 115,108,732 (GRCm39) |
T58A |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kcns1 |
T |
C |
2: 164,010,021 (GRCm39) |
Y246C |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,742,892 (GRCm39) |
E549G |
probably benign |
Het |
| Krt9 |
T |
C |
11: 100,080,863 (GRCm39) |
I330V |
probably benign |
Het |
| Lair1 |
A |
T |
7: 4,032,033 (GRCm39) |
S25T |
probably benign |
Het |
| Lhx4 |
T |
C |
1: 155,581,013 (GRCm39) |
T171A |
possibly damaging |
Het |
| Luzp2 |
A |
G |
7: 54,816,996 (GRCm39) |
I149V |
possibly damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,557,422 (GRCm39) |
S143T |
probably benign |
Het |
| Mcph1 |
A |
G |
8: 18,675,574 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
G |
A |
1: 127,396,986 (GRCm39) |
V578M |
probably damaging |
Het |
| Mis18bp1 |
G |
A |
12: 65,208,209 (GRCm39) |
T168M |
probably benign |
Het |
| Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
| Myom1 |
T |
C |
17: 71,379,114 (GRCm39) |
V626A |
probably damaging |
Het |
| Naa80 |
C |
T |
9: 107,460,818 (GRCm39) |
R238C |
probably damaging |
Het |
| Ncam1 |
T |
C |
9: 49,418,921 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
A |
T |
7: 5,301,858 (GRCm39) |
F211L |
probably benign |
Het |
| Or10a49 |
A |
T |
7: 108,467,993 (GRCm39) |
F123I |
probably damaging |
Het |
| Or10q12 |
T |
A |
19: 13,746,126 (GRCm39) |
M140K |
probably damaging |
Het |
| Or2ad1 |
T |
A |
13: 21,326,450 (GRCm39) |
Y259F |
probably damaging |
Het |
| Osbpl11 |
G |
A |
16: 33,054,863 (GRCm39) |
V649I |
probably benign |
Het |
| Oscar |
A |
T |
7: 3,619,016 (GRCm39) |
|
probably null |
Het |
| Pax8 |
T |
A |
2: 24,331,652 (GRCm39) |
M144L |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,205,688 (GRCm39) |
T2555A |
probably benign |
Het |
| Plat |
T |
A |
8: 23,258,466 (GRCm39) |
I23K |
probably benign |
Het |
| Plpp2 |
G |
A |
10: 79,366,763 (GRCm39) |
T51M |
probably damaging |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Prl7c1 |
T |
C |
13: 27,957,742 (GRCm39) |
M233V |
probably benign |
Het |
| Prox1 |
A |
C |
1: 189,894,319 (GRCm39) |
F42C |
probably damaging |
Het |
| Pwwp2b |
A |
T |
7: 138,835,978 (GRCm39) |
Q473L |
possibly damaging |
Het |
| Rims4 |
A |
T |
2: 163,707,443 (GRCm39) |
N127K |
probably null |
Het |
| Scn1a |
T |
C |
2: 66,158,820 (GRCm39) |
T367A |
possibly damaging |
Het |
| Slc23a2 |
A |
G |
2: 131,898,800 (GRCm39) |
I579T |
possibly damaging |
Het |
| Sp9 |
T |
C |
2: 73,103,962 (GRCm39) |
V172A |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,003,396 (GRCm39) |
L109Q |
probably damaging |
Het |
| Synj2 |
A |
T |
17: 6,038,343 (GRCm39) |
|
probably benign |
Het |
| Tcstv2c |
T |
C |
13: 120,616,206 (GRCm39) |
V15A |
probably damaging |
Het |
| Tnrc18 |
A |
T |
5: 142,750,932 (GRCm39) |
M1216K |
unknown |
Het |
| Tpst2 |
T |
A |
5: 112,457,687 (GRCm39) |
Y69* |
probably null |
Het |
| Tpx2 |
C |
A |
2: 152,735,535 (GRCm39) |
A721E |
probably benign |
Het |
| Trmt1l |
A |
G |
1: 151,330,755 (GRCm39) |
T591A |
probably benign |
Het |
| Tubgcp4 |
T |
A |
2: 121,015,330 (GRCm39) |
|
probably benign |
Het |
| Ubiad1 |
T |
C |
4: 148,528,556 (GRCm39) |
T118A |
possibly damaging |
Het |
| Unc13c |
T |
C |
9: 73,424,566 (GRCm39) |
T2017A |
probably damaging |
Het |
| Vmn1r59 |
G |
T |
7: 5,457,108 (GRCm39) |
N217K |
probably benign |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,367 (GRCm39) |
I624V |
probably damaging |
Het |
| Wdr4 |
A |
G |
17: 31,718,129 (GRCm39) |
V315A |
probably benign |
Het |
| Xpo7 |
T |
C |
14: 70,914,256 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
T |
A |
8: 79,787,403 (GRCm39) |
W190R |
probably damaging |
Het |
| Zfp971 |
A |
G |
2: 177,674,940 (GRCm39) |
T180A |
probably benign |
Het |
| Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
probably benign |
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 |
|
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 |
|
| Posted On |
2017-04-14 |
Incidental Mutation