Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02689:Cecr2'

303656

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 #

IGL02689

Quality Score

Status

Chromosome

Chromosomal Location

120643330-120748151 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120739128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1257 (L1257Q)

Ref Sequence

ENSEMBL: ENSMUSP00000108306 (fasta)

Gene Model

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

AlphaFold

E9Q2Z1

Predicted Effect

probably damaging
Transcript: ENSMUST00000100993
AA Change: L1285Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: L1285Q

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: L1257Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: L1257Q

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	G	T	4: 86,835,692 (GRCm39)	A235S	probably benign	Het
Add2	A	G	6: 86,084,388 (GRCm39)	I479V	possibly damaging	Het
Anapc11	T	A	11: 120,490,168 (GRCm39)	M28K	probably benign	Het
Anapc15-ps	T	C	10: 95,508,993 (GRCm39)	S87G	probably benign	Het
Atraid	T	C	5: 31,209,826 (GRCm39)	L46P	probably damaging	Het
Ccdc80	T	A	16: 44,916,772 (GRCm39)	Y509*	probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Csn1s2b	A	G	5: 87,957,780 (GRCm39)	I5V	probably benign	Het
Dhps	T	C	8: 85,800,379 (GRCm39)	Y221H	possibly damaging	Het
Dmxl1	T	C	18: 49,997,962 (GRCm39)	S717P	probably damaging	Het
Dppa5a	G	T	9: 78,275,113 (GRCm39)	S63Y	probably damaging	Het
Eif3l	A	T	15: 78,970,719 (GRCm39)	D331V	possibly damaging	Het
Folh1	G	T	7: 86,412,253 (GRCm39)		probably null	Het
Gbp9	G	T	5: 105,253,662 (GRCm39)	Q18K	probably benign	Het
Grm5	A	G	7: 87,251,918 (GRCm39)	K56R	probably damaging	Het
H2-M3	T	A	17: 37,581,432 (GRCm39)	Y31*	probably null	Het
Herc2	T	C	7: 55,815,031 (GRCm39)		probably benign	Het
Itga7	G	T	10: 128,782,687 (GRCm39)	A675S	possibly damaging	Het
Lipo5	G	A	19: 33,445,186 (GRCm39)	H128Y	unknown	Het
Or2bd2	T	C	7: 6,443,574 (GRCm39)	L225P	possibly damaging	Het
Or5b121	A	G	19: 13,507,171 (GRCm39)	I89V	probably benign	Het
Pdk4	C	T	6: 5,487,408 (GRCm39)	V281I	probably benign	Het
Pkn3	G	A	2: 29,970,858 (GRCm39)	G202D	probably damaging	Het
Rcbtb1	A	G	14: 59,462,149 (GRCm39)	N260S	probably damaging	Het
Sipa1l1	T	C	12: 82,487,594 (GRCm39)	F1623L	probably benign	Het
Slfn8	A	G	11: 82,907,934 (GRCm39)	F203S	probably damaging	Het
St6gal2	T	C	17: 55,789,596 (GRCm39)	L210S	probably damaging	Het
Taf5	T	C	19: 47,065,704 (GRCm39)		probably benign	Het
Taok2	A	G	7: 126,475,270 (GRCm39)	F226S	probably damaging	Het
Timm10b	A	G	7: 105,289,839 (GRCm39)		probably benign	Het
Tmx3	A	G	18: 90,555,240 (GRCm39)	N319S	possibly damaging	Het
Trmt1	G	T	8: 85,426,385 (GRCm39)		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
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

2015-04-16