Incidental Mutation 'R9416:Cecr2'
| ID |
712050 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9416 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
120643330-120748151 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120735538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 148
(N148Y)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100993]
[ENSMUST00000112686]
[ENSMUST00000129803]
|
| AlphaFold |
E9Q2Z1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100993
AA Change: N925Y
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: N925Y
| 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: N897Y
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: N897Y
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000116993
Gene: ENSMUSG00000071226
AA Change: N148Y
| 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: 99.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
C |
T |
4: 86,342,477 (GRCm39) |
T1672I |
probably damaging |
Het |
| Ahnak |
T |
G |
19: 8,990,266 (GRCm39) |
M3850R |
unknown |
Het |
| Cacna1s |
T |
A |
1: 136,022,689 (GRCm39) |
L874Q |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,274,479 (GRCm39) |
D622V |
probably benign |
Het |
| Ccdc150 |
T |
C |
1: 54,317,990 (GRCm39) |
S310P |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,322,084 (GRCm39) |
T243A |
probably damaging |
Het |
| Coro1b |
C |
T |
19: 4,201,473 (GRCm39) |
T279I |
probably damaging |
Het |
| Cyp51 |
A |
G |
5: 4,150,198 (GRCm39) |
I175T |
probably damaging |
Het |
| Dnajc21 |
T |
C |
15: 10,462,048 (GRCm39) |
I118V |
possibly damaging |
Het |
| Dtna |
T |
C |
18: 23,780,112 (GRCm39) |
|
probably null |
Het |
| Etl4 |
A |
G |
2: 20,748,784 (GRCm39) |
K374R |
probably benign |
Het |
| Fance |
G |
A |
17: 28,537,327 (GRCm39) |
C53Y |
probably damaging |
Het |
| Gm14496 |
G |
T |
2: 181,640,647 (GRCm39) |
C538F |
probably damaging |
Het |
| Gon4l |
T |
A |
3: 88,803,538 (GRCm39) |
V1383D |
probably benign |
Het |
| Gpr6 |
C |
A |
10: 40,946,944 (GRCm39) |
D213Y |
possibly damaging |
Het |
| Has2 |
A |
G |
15: 56,531,684 (GRCm39) |
Y344H |
probably damaging |
Het |
| Kcnh2 |
A |
T |
5: 24,537,964 (GRCm39) |
M133K |
probably benign |
Het |
| Kdm5a |
A |
G |
6: 120,365,056 (GRCm39) |
H152R |
probably damaging |
Het |
| Klhl33 |
C |
T |
14: 51,130,225 (GRCm39) |
R163H |
probably damaging |
Het |
| Lax1 |
T |
A |
1: 133,611,752 (GRCm39) |
Q61L |
probably benign |
Het |
| Lct |
T |
C |
1: 128,228,329 (GRCm39) |
T1055A |
possibly damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,756,163 (GRCm39) |
Y646C |
possibly damaging |
Het |
| Mtarc1 |
T |
C |
1: 184,527,633 (GRCm39) |
T274A |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,902,577 (GRCm39) |
V51A |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,137,215 (GRCm39) |
S250P |
|
Het |
| Nim1k |
A |
T |
13: 120,189,362 (GRCm39) |
C16S |
probably benign |
Het |
| Oosp1 |
T |
C |
19: 11,664,769 (GRCm39) |
T96A |
probably damaging |
Het |
| Or1e1c |
T |
C |
11: 73,265,790 (GRCm39) |
S75P |
probably damaging |
Het |
| Or2q1 |
G |
T |
6: 42,795,197 (GRCm39) |
R264L |
probably benign |
Het |
| Or8k17 |
T |
A |
2: 86,066,744 (GRCm39) |
Q138L |
probably damaging |
Het |
| Pik3c2b |
C |
T |
1: 133,005,187 (GRCm39) |
R563C |
probably damaging |
Het |
| Ppp1r18 |
CGAGGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGAGGA |
17: 36,184,743 (GRCm39) |
|
probably benign |
Het |
| Prps1l1 |
T |
A |
12: 35,035,089 (GRCm39) |
M68K |
|
Het |
| Prr11 |
A |
T |
11: 86,992,254 (GRCm39) |
L207* |
probably null |
Het |
| Psme3 |
T |
C |
11: 101,211,559 (GRCm39) |
Y202H |
probably damaging |
Het |
| Ptma |
A |
G |
1: 86,455,694 (GRCm39) |
S57G |
unknown |
Het |
| Rab24 |
A |
G |
13: 55,468,049 (GRCm39) |
V33A |
unknown |
Het |
| Reep6 |
A |
G |
10: 80,166,091 (GRCm39) |
T83A |
probably benign |
Het |
| Semp2l2b |
C |
T |
10: 21,943,752 (GRCm39) |
R76Q |
probably benign |
Het |
| Shroom4 |
GCAACAACAACAACAACAACAACAACA |
GCAACAACAACAACAACAACAACA |
X: 6,536,131 (GRCm39) |
|
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,925,390 (GRCm39) |
K357R |
probably benign |
Het |
| Slc2a4 |
T |
A |
11: 69,836,728 (GRCm39) |
H167L |
probably benign |
Het |
| Slc8a3 |
T |
A |
12: 81,361,838 (GRCm39) |
H327L |
probably benign |
Het |
| Slf1 |
G |
A |
13: 77,194,656 (GRCm39) |
L890F |
|
Het |
| Smchd1 |
A |
C |
17: 71,701,791 (GRCm39) |
I1067R |
probably benign |
Het |
| Stk33 |
T |
A |
7: 108,940,689 (GRCm39) |
N7I |
probably benign |
Het |
| Tex47 |
T |
C |
5: 7,355,194 (GRCm39) |
M125T |
possibly damaging |
Het |
| Thada |
A |
T |
17: 84,766,292 (GRCm39) |
L38* |
probably null |
Het |
| Thbs1 |
A |
G |
2: 117,947,983 (GRCm39) |
D381G |
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,203,603 (GRCm39) |
V1009D |
|
Het |
| Usp17la |
A |
T |
7: 104,508,531 (GRCm39) |
|
probably benign |
Het |
| Zfp438 |
A |
T |
18: 5,214,054 (GRCm39) |
N301K |
probably benign |
Het |
| Zfp606 |
T |
A |
7: 12,227,907 (GRCm39) |
I676N |
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 |
|
|
|
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 |
|
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'- CACCAAGTCCTCGATTCAGAG -3'
(R):5'- GCTTATAGGAGGCTTGACATCAC -3'
Sequencing Primer
(F):5'- TCGATTCAGAGGGCCCTC -3'
(R):5'- ATAGGAGGCTTGACATCACTTTGC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation