Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00782:Cecr2'

9590

Institutional Source

Australian Phenomics Network (link to record)

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) question?

Stock #

IGL00782

Quality Score

Status

Chromosome

Chromosomal Location

120643330-120748151 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120738582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1075 (N1075S)

Ref Sequence

ENSEMBL: ENSMUSP00000108306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100993] [ENSMUST00000112686]

AlphaFold

E9Q2Z1

Predicted Effect

probably benign
Transcript: ENSMUST00000100993
AA Change: N1103S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: N1103S

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: N1075S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: N1075S

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

unknown
Transcript: ENSMUST00000143563
AA Change: N325S

SMART Domains

Protein: ENSMUSP00000116993
Gene: ENSMUSG00000071226
AA Change: N325S

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

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	T	7: 119,172,391 (GRCm39)	E78V	probably damaging	Het
Atxn7	A	G	14: 14,096,218 (GRCm38)	I508V	possibly damaging	Het
Clcn3	A	G	8: 61,375,826 (GRCm39)	I689T	probably damaging	Het
Cntnap3	T	C	13: 64,893,619 (GRCm39)		probably benign	Het
Defb11	T	C	8: 22,395,510 (GRCm39)	I56V	probably benign	Het
Ercc5	A	G	1: 44,203,095 (GRCm39)	N244S	probably damaging	Het
Gabrg3	A	G	7: 57,031,415 (GRCm39)	S42P	probably damaging	Het
Hcrtr2	A	T	9: 76,137,779 (GRCm39)		probably benign	Het
Jcad	T	C	18: 4,675,073 (GRCm39)	L945S	probably benign	Het
Lrp2	T	C	2: 69,331,989 (GRCm39)	M1589V	probably benign	Het
Prkg1	C	T	19: 30,556,153 (GRCm39)		probably benign	Het
Samd1	T	C	8: 84,726,246 (GRCm39)	F464S	probably damaging	Het
Slc35b3	A	G	13: 39,127,116 (GRCm39)	S213P	possibly damaging	Het
Taar1	A	G	10: 23,796,344 (GRCm39)	N14S	probably benign	Het
Tinf2	A	G	14: 55,917,921 (GRCm39)		probably null	Het
Utrn	T	C	10: 12,528,555 (GRCm39)	N2140S	probably benign	Het
Zfp780b	T	C	7: 27,664,186 (GRCm39)	D123G	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
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
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

Posted On

2012-12-06