Incidental Mutation 'R7282:Cecr2'
ID |
565727 |
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 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7282 (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 120738582 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 325
(N325I)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100993]
[ENSMUST00000112686]
|
AlphaFold |
E9Q2Z1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100993
AA Change: N1103I
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000098556 Gene: ENSMUSG00000071226 AA Change: N1103I
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: N1075I
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000108306 Gene: ENSMUSG00000071226 AA Change: N1075I
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 |
|
SMART Domains |
Protein: ENSMUSP00000116993 Gene: ENSMUSG00000071226 AA Change: N325I
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: 98.8%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810065E05Rik |
C |
A |
11: 58,316,582 (GRCm39) |
D187E |
probably damaging |
Het |
Abl2 |
T |
C |
1: 156,457,630 (GRCm39) |
Y299H |
probably damaging |
Het |
Acsl3 |
T |
A |
1: 78,659,709 (GRCm39) |
N120K |
probably damaging |
Het |
Aldh1a1 |
A |
G |
19: 20,606,434 (GRCm39) |
K255R |
possibly damaging |
Het |
Baz2b |
C |
T |
2: 59,750,781 (GRCm39) |
R1205H |
probably benign |
Het |
Btbd8 |
G |
T |
5: 107,655,062 (GRCm39) |
V954L |
probably benign |
Het |
Btbd8 |
A |
G |
5: 107,658,371 (GRCm39) |
D1647G |
probably damaging |
Het |
Carmil1 |
A |
G |
13: 24,197,387 (GRCm39) |
S1350P |
probably benign |
Het |
Cep120 |
C |
T |
18: 53,873,161 (GRCm39) |
A57T |
probably damaging |
Het |
Chst8 |
T |
C |
7: 34,447,628 (GRCm39) |
|
probably null |
Het |
Cntn4 |
A |
T |
6: 106,502,421 (GRCm39) |
I393F |
probably damaging |
Het |
Crocc |
T |
C |
4: 140,749,652 (GRCm39) |
D1494G |
probably damaging |
Het |
Cwc25 |
T |
C |
11: 97,638,832 (GRCm39) |
E364G |
possibly damaging |
Het |
Dnah7a |
C |
A |
1: 53,724,059 (GRCm39) |
|
probably null |
Het |
Drg2 |
A |
G |
11: 60,345,519 (GRCm39) |
E5G |
probably benign |
Het |
Ehd4 |
T |
C |
2: 119,921,729 (GRCm39) |
H509R |
probably damaging |
Het |
Enam |
A |
T |
5: 88,650,186 (GRCm39) |
N565I |
probably damaging |
Het |
Evi2a |
G |
T |
11: 79,418,249 (GRCm39) |
N120K |
probably benign |
Het |
Faim |
A |
G |
9: 98,874,179 (GRCm39) |
T2A |
probably benign |
Het |
Fcgbpl1 |
A |
G |
7: 27,843,833 (GRCm39) |
N907S |
probably benign |
Het |
Fmnl1 |
T |
C |
11: 103,087,091 (GRCm39) |
V836A |
unknown |
Het |
Fosb |
T |
C |
7: 19,039,113 (GRCm39) |
I224V |
possibly damaging |
Het |
Frem3 |
A |
T |
8: 81,338,660 (GRCm39) |
T318S |
probably damaging |
Het |
Gm9972 |
G |
A |
11: 42,927,631 (GRCm39) |
G93R |
unknown |
Het |
Gtf2a1 |
A |
T |
12: 91,534,609 (GRCm39) |
I215N |
possibly damaging |
Het |
Hs3st3b1 |
A |
G |
11: 63,812,397 (GRCm39) |
V106A |
probably benign |
Het |
Igkv19-93 |
T |
C |
6: 68,713,485 (GRCm39) |
D48G |
probably benign |
Het |
Itgb8 |
A |
T |
12: 119,201,443 (GRCm39) |
W31R |
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,751,985 (GRCm39) |
W1995R |
unknown |
Het |
Lama3 |
G |
T |
18: 12,572,449 (GRCm39) |
Q551H |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,843,588 (GRCm39) |
Y453C |
probably damaging |
Het |
Lbhd2 |
G |
A |
12: 111,376,724 (GRCm39) |
R57H |
probably damaging |
Het |
Lcmt2 |
A |
G |
2: 120,969,271 (GRCm39) |
V384A |
probably damaging |
Het |
Lgsn |
T |
G |
1: 31,242,452 (GRCm39) |
L178R |
probably damaging |
Het |
Lhcgr |
C |
T |
17: 89,065,811 (GRCm39) |
V193I |
probably benign |
Het |
Lta4h |
T |
C |
10: 93,289,373 (GRCm39) |
M1T |
probably null |
Het |
Ly6l |
T |
C |
15: 75,321,345 (GRCm39) |
S14P |
probably damaging |
Het |
Met |
C |
A |
6: 17,547,011 (GRCm39) |
C881* |
probably null |
Het |
Mettl21e |
A |
T |
1: 44,249,399 (GRCm39) |
Y86N |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,740,045 (GRCm39) |
T1673A |
probably benign |
Het |
Mgam |
A |
T |
6: 40,633,446 (GRCm39) |
N251Y |
possibly damaging |
Het |
Mmp27 |
T |
A |
9: 7,578,231 (GRCm39) |
V357D |
probably damaging |
Het |
Muc2 |
A |
G |
7: 141,306,481 (GRCm39) |
E740G |
|
Het |
Myoc |
C |
A |
1: 162,476,413 (GRCm39) |
S372R |
probably benign |
Het |
Ncor2 |
A |
T |
5: 125,097,104 (GRCm39) |
M1358K |
|
Het |
Nol6 |
A |
G |
4: 41,119,468 (GRCm39) |
S613P |
probably benign |
Het |
Nuggc |
T |
A |
14: 65,855,072 (GRCm39) |
I334N |
probably damaging |
Het |
Nxnl2 |
C |
T |
13: 51,325,542 (GRCm39) |
P62S |
probably damaging |
Het |
Ogfod1 |
C |
T |
8: 94,764,067 (GRCm39) |
H51Y |
possibly damaging |
Het |
Olfml1 |
T |
A |
7: 107,189,530 (GRCm39) |
D198E |
possibly damaging |
Het |
Or2t26 |
A |
C |
11: 49,039,945 (GRCm39) |
N287T |
probably damaging |
Het |
Ovch2 |
C |
T |
7: 107,393,577 (GRCm39) |
R183H |
possibly damaging |
Het |
Plxnd1 |
A |
T |
6: 115,937,798 (GRCm39) |
L1516Q |
probably damaging |
Het |
Pramel27 |
A |
G |
4: 143,578,451 (GRCm39) |
N237S |
possibly damaging |
Het |
Prrc2c |
A |
G |
1: 162,507,543 (GRCm39) |
V2448A |
possibly damaging |
Het |
Rexo5 |
C |
T |
7: 119,417,636 (GRCm39) |
T212I |
probably damaging |
Het |
Rgl2 |
C |
T |
17: 34,152,403 (GRCm39) |
R367W |
probably damaging |
Het |
Rnf213 |
T |
G |
11: 119,328,818 (GRCm39) |
I2030S |
|
Het |
Rtf1 |
C |
T |
2: 119,505,580 (GRCm39) |
A11V |
unknown |
Het |
Setdb1 |
T |
G |
3: 95,245,985 (GRCm39) |
T647P |
probably damaging |
Het |
Shisa6 |
G |
C |
11: 66,393,480 (GRCm39) |
P272R |
possibly damaging |
Het |
Slc25a54 |
G |
T |
3: 109,023,817 (GRCm39) |
G471* |
probably null |
Het |
Slc30a1 |
A |
G |
1: 191,641,544 (GRCm39) |
T397A |
probably benign |
Het |
Slc7a14 |
A |
G |
3: 31,281,302 (GRCm39) |
F336S |
possibly damaging |
Het |
Slitrk3 |
C |
T |
3: 72,957,798 (GRCm39) |
V325I |
possibly damaging |
Het |
Sptan1 |
A |
G |
2: 29,876,941 (GRCm39) |
Y361C |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,528,984 (GRCm39) |
D1747G |
probably benign |
Het |
Taf3 |
T |
C |
2: 9,956,253 (GRCm39) |
E638G |
probably damaging |
Het |
Tbc1d8 |
T |
C |
1: 39,411,614 (GRCm39) |
D1074G |
probably benign |
Het |
Tecrl |
G |
A |
5: 83,502,754 (GRCm39) |
H32Y |
probably benign |
Het |
Tgm3 |
T |
A |
2: 129,866,481 (GRCm39) |
M133K |
probably benign |
Het |
Tmem131 |
A |
G |
1: 36,880,685 (GRCm39) |
F195S |
probably damaging |
Het |
Tmem82 |
T |
C |
4: 141,342,261 (GRCm39) |
I314V |
possibly damaging |
Het |
Trappc10 |
T |
C |
10: 78,043,327 (GRCm39) |
E555G |
probably damaging |
Het |
Ubn2 |
A |
T |
6: 38,429,811 (GRCm39) |
K176* |
probably null |
Het |
Ucp1 |
G |
A |
8: 84,020,531 (GRCm39) |
G114R |
probably benign |
Het |
Unc5c |
A |
G |
3: 141,383,751 (GRCm39) |
D43G |
probably damaging |
Het |
Vmn2r3 |
C |
T |
3: 64,168,825 (GRCm39) |
V571M |
possibly damaging |
Het |
Vwa3a |
A |
T |
7: 120,385,688 (GRCm39) |
I677L |
probably benign |
Het |
Wdr48 |
T |
C |
9: 119,740,147 (GRCm39) |
S319P |
probably 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 |
|
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'- AATCTACCTGAAAATGGGGTCG -3'
(R):5'- ATCTCATTCCCTGCTGAGGAC -3'
Sequencing Primer
(F):5'- GTCGTTGGTGAAGCATCTCCC -3'
(R):5'- ATTCCCTGCTGAGGACGGTAC -3'
|
Posted On |
2019-06-26 |