Incidental Mutation 'R1664:Cecr2'
| ID |
187013 |
| 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 |
039700-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1664 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
120643330-120748151 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 120738987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 1210
(T1210K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100993]
[ENSMUST00000112686]
|
| AlphaFold |
E9Q2Z1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100993
AA Change: T1238K
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: T1238K
| 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: T1210K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: T1210K
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
A |
14: 35,533,772 (GRCm39) |
T45S |
probably benign |
Het |
| Ackr1 |
A |
G |
1: 173,160,433 (GRCm39) |
F29L |
probably benign |
Het |
| Adgrf2 |
T |
A |
17: 43,025,305 (GRCm39) |
S60C |
possibly damaging |
Het |
| Alpk2 |
A |
G |
18: 65,482,944 (GRCm39) |
C355R |
probably damaging |
Het |
| Ankmy1 |
A |
C |
1: 92,812,913 (GRCm39) |
D465E |
probably benign |
Het |
| Ankrd27 |
T |
A |
7: 35,306,551 (GRCm39) |
D310E |
probably damaging |
Het |
| Ap3d1 |
G |
A |
10: 80,553,571 (GRCm39) |
Q559* |
probably null |
Het |
| C4b |
T |
C |
17: 34,951,952 (GRCm39) |
T1298A |
probably damaging |
Het |
| Casr |
T |
A |
16: 36,330,327 (GRCm39) |
K336* |
probably null |
Het |
| Ccdc116 |
A |
T |
16: 16,960,492 (GRCm39) |
D108E |
probably benign |
Het |
| Ccdc168 |
T |
A |
1: 44,098,387 (GRCm39) |
I904F |
possibly damaging |
Het |
| Ccr7 |
A |
T |
11: 99,036,517 (GRCm39) |
I135N |
possibly damaging |
Het |
| Cd96 |
A |
G |
16: 45,938,364 (GRCm39) |
Y34H |
possibly damaging |
Het |
| Cdan1 |
T |
A |
2: 120,550,987 (GRCm39) |
D1135V |
probably damaging |
Het |
| Cep152 |
C |
A |
2: 125,408,174 (GRCm39) |
A1390S |
probably benign |
Het |
| Chd9 |
T |
G |
8: 91,749,418 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
G |
T |
17: 58,600,985 (GRCm39) |
W776L |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,095,355 (GRCm39) |
|
probably null |
Het |
| Cpa2 |
G |
T |
6: 30,554,314 (GRCm39) |
M311I |
probably damaging |
Het |
| Cpz |
A |
G |
5: 35,664,087 (GRCm39) |
F483L |
probably damaging |
Het |
| Ddx19a |
A |
C |
8: 111,716,130 (GRCm39) |
V90G |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fbxw7 |
A |
G |
3: 84,876,478 (GRCm39) |
D213G |
possibly damaging |
Het |
| Fgd2 |
T |
C |
17: 29,588,273 (GRCm39) |
F362L |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,216,778 (GRCm39) |
Y2171H |
probably damaging |
Het |
| Gba2 |
T |
C |
4: 43,578,080 (GRCm39) |
R90G |
probably benign |
Het |
| Gm10073 |
T |
C |
8: 107,299,864 (GRCm39) |
E40G |
probably damaging |
Het |
| Grhl3 |
T |
C |
4: 135,279,861 (GRCm39) |
I398V |
probably benign |
Het |
| Grip2 |
T |
A |
6: 91,742,233 (GRCm39) |
H899L |
probably damaging |
Het |
| Grk2 |
T |
C |
19: 4,337,268 (GRCm39) |
K644E |
possibly damaging |
Het |
| Iars1 |
A |
T |
13: 49,865,251 (GRCm39) |
T576S |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,759,704 (GRCm39) |
V2084M |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrrc69 |
G |
A |
4: 14,775,079 (GRCm39) |
T63M |
probably damaging |
Het |
| Lrrn4 |
A |
T |
2: 132,711,886 (GRCm39) |
C646S |
probably damaging |
Het |
| Mtf2 |
C |
T |
5: 108,252,342 (GRCm39) |
T457M |
probably damaging |
Het |
| Ncln |
A |
T |
10: 81,323,555 (GRCm39) |
C531S |
probably benign |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,784 (GRCm39) |
I44V |
probably benign |
Het |
| Or5v1 |
C |
T |
17: 37,810,316 (GRCm39) |
T258M |
possibly damaging |
Het |
| Or8c11 |
A |
T |
9: 38,289,548 (GRCm39) |
M124L |
possibly damaging |
Het |
| Otogl |
A |
G |
10: 107,642,437 (GRCm39) |
V1331A |
probably benign |
Het |
| Palb2 |
A |
G |
7: 121,723,615 (GRCm39) |
|
probably benign |
Het |
| Pcdh20 |
T |
C |
14: 88,705,758 (GRCm39) |
E514G |
possibly damaging |
Het |
| Pclaf |
A |
G |
9: 65,797,730 (GRCm39) |
N7S |
probably benign |
Het |
| Pdrg1 |
C |
T |
2: 152,857,248 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
T |
A |
17: 33,285,492 (GRCm39) |
I437F |
probably damaging |
Het |
| Pik3r6 |
T |
A |
11: 68,426,932 (GRCm39) |
D464E |
probably benign |
Het |
| Pkp3 |
A |
G |
7: 140,667,560 (GRCm39) |
N454D |
probably damaging |
Het |
| Plekha7 |
C |
A |
7: 115,734,269 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
A |
G |
2: 121,167,663 (GRCm39) |
V784A |
probably benign |
Het |
| Ppp1r36 |
T |
A |
12: 76,483,028 (GRCm39) |
D205E |
possibly damaging |
Het |
| Prss35 |
A |
T |
9: 86,637,700 (GRCm39) |
T157S |
probably benign |
Het |
| Ptprn2 |
T |
C |
12: 117,125,329 (GRCm39) |
L621P |
probably damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,831,172 (GRCm39) |
K524R |
probably damaging |
Het |
| Rasgrp4 |
T |
A |
7: 28,839,688 (GRCm39) |
H133Q |
probably benign |
Het |
| Reln |
A |
T |
5: 22,134,084 (GRCm39) |
Y2615N |
probably damaging |
Het |
| Rpf1 |
T |
A |
3: 146,217,903 (GRCm39) |
T204S |
probably benign |
Het |
| Scgb2b3 |
T |
A |
7: 31,058,464 (GRCm39) |
*113L |
probably null |
Het |
| Scn5a |
A |
C |
9: 119,350,243 (GRCm39) |
L877R |
possibly damaging |
Het |
| Sh3pxd2a |
A |
T |
19: 47,256,821 (GRCm39) |
D632E |
probably benign |
Het |
| Slc39a10 |
T |
C |
1: 46,865,269 (GRCm39) |
H522R |
probably damaging |
Het |
| Spink2 |
A |
T |
5: 77,354,855 (GRCm39) |
C19S |
probably damaging |
Het |
| Spsb4 |
A |
G |
9: 96,878,266 (GRCm39) |
L19P |
possibly damaging |
Het |
| St7l |
T |
C |
3: 104,778,214 (GRCm39) |
V117A |
probably damaging |
Het |
| Stac2 |
C |
T |
11: 97,933,420 (GRCm39) |
S174N |
probably damaging |
Het |
| Sult4a1 |
A |
G |
15: 83,970,818 (GRCm39) |
Y196H |
probably benign |
Het |
| Tex2 |
C |
T |
11: 106,458,608 (GRCm39) |
|
probably benign |
Het |
| Tprg1l |
A |
T |
4: 154,243,862 (GRCm39) |
V98D |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,548,369 (GRCm39) |
H31978Y |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,658,853 (GRCm39) |
|
probably benign |
Het |
| Tyk2 |
C |
A |
9: 21,031,649 (GRCm39) |
R447L |
probably damaging |
Het |
| Ucn3 |
T |
C |
13: 3,991,634 (GRCm39) |
Y6C |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,584,970 (GRCm39) |
|
probably null |
Het |
| Vmn2r94 |
G |
C |
17: 18,464,406 (GRCm39) |
A628G |
probably damaging |
Het |
| Wdr95 |
C |
A |
5: 149,518,752 (GRCm39) |
T389K |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,770,794 (GRCm39) |
|
probably null |
Het |
| Xab2 |
T |
A |
8: 3,669,068 (GRCm39) |
|
probably null |
Het |
| Zfp458 |
A |
T |
13: 67,406,144 (GRCm39) |
N95K |
possibly damaging |
Het |
| Zfp672 |
T |
C |
11: 58,208,138 (GRCm39) |
H61R |
probably damaging |
Het |
| Zfp942 |
C |
T |
17: 22,147,420 (GRCm39) |
G403E |
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 |
|
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 |
|
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'- GAATGAGATATTCCTACCAGCCGCC -3'
(R):5'- CCATCATCGAAGCCTGAAAGTGACC -3'
Sequencing Primer
(F):5'- ACCAGCCGCCTTCTCAG -3'
(R):5'- CATTCCTGAACTCAGAGATGGTG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation