Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01137:Cecr2'

51373

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 #

IGL01137

Quality Score

Status

Chromosome

Chromosomal Location

120643330-120748151 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 120738989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 1211 (L1211V)

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: L1239V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: L1239V

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: L1211V

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

SMART Domains

Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: L1211V

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	C	A	15: 94,292,492 (GRCm39)		probably null	Het
Ankrd11	T	C	8: 123,611,075 (GRCm39)	T2583A	probably damaging	Het
Anxa7	G	A	14: 20,506,648 (GRCm39)	Q431*	probably null	Het
Asb15	T	A	6: 24,556,521 (GRCm39)	D5E	probably benign	Het
Bex1	C	A	X: 135,115,243 (GRCm39)	D29Y	probably damaging	Het
Cadm2	G	A	16: 66,612,238 (GRCm39)	T108I	probably damaging	Het
Cntn2	T	C	1: 132,449,035 (GRCm39)		probably benign	Het
Ctrc	C	A	4: 141,566,065 (GRCm39)	V198L	possibly damaging	Het
Cyp2g1	A	G	7: 26,513,684 (GRCm39)	S208G	possibly damaging	Het
Ddx46	T	A	13: 55,817,530 (GRCm39)	Y718*	probably null	Het
Dlec1	T	C	9: 118,966,379 (GRCm39)	I1116T	probably damaging	Het
Dnajc13	A	G	9: 104,037,689 (GRCm39)	Y2177H	probably benign	Het
Dpp6	T	C	5: 27,919,486 (GRCm39)	F661S	probably damaging	Het
Dpy19l2	G	A	9: 24,569,858 (GRCm39)	T365I	possibly damaging	Het
Flot2	T	C	11: 77,940,333 (GRCm39)	Y27H	probably damaging	Het
Gsta4	T	C	9: 78,113,204 (GRCm39)	Y95H	possibly damaging	Het
Kir3dl1	A	G	X: 135,427,360 (GRCm39)	T192A	probably damaging	Het
Llgl1	T	A	11: 60,600,825 (GRCm39)	N640K	probably benign	Het
Lrch1	C	T	14: 74,994,532 (GRCm39)	V691M	probably damaging	Het
Myh9	T	C	15: 77,653,742 (GRCm39)	D1302G	probably benign	Het
Myo18a	T	G	11: 77,718,655 (GRCm39)	F935V	probably damaging	Het
Mypn	T	C	10: 62,988,633 (GRCm39)	E464G	probably benign	Het
Or52l1	A	G	7: 104,829,695 (GRCm39)	V290A	probably benign	Het
Or5ac25	A	C	16: 59,182,335 (GRCm39)	M82R	probably benign	Het
Or5b101	A	T	19: 13,005,394 (GRCm39)	F100I	possibly damaging	Het
Or8k38	A	T	2: 86,488,055 (GRCm39)	I249N	possibly damaging	Het
R3hdm1	C	T	1: 128,109,612 (GRCm39)	R39C	probably damaging	Het
Rps3a3	A	T	13: 108,807,666 (GRCm39)		probably benign	Het
Sec24b	C	T	3: 129,801,093 (GRCm39)	S401N	probably benign	Het
Slc22a22	C	A	15: 57,117,674 (GRCm39)	G289V	probably damaging	Het
Stk33	T	C	7: 108,928,775 (GRCm39)	I246V	probably benign	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Timmdc1	A	T	16: 38,338,747 (GRCm39)	H114Q	probably benign	Het
Tlcd2	T	C	11: 75,360,337 (GRCm39)	Y127H	probably damaging	Het
Tnfrsf11a	G	A	1: 105,737,147 (GRCm39)	D85N	possibly damaging	Het
Trbc2	T	C	6: 41,524,751 (GRCm39)		probably benign	Het
Unc13b	G	A	4: 43,091,291 (GRCm39)	R39H	probably damaging	Het
Vwa8	T	C	14: 79,341,087 (GRCm39)	L1521P	probably damaging	Het
Zbtb17	T	A	4: 141,193,678 (GRCm39)	C607*	probably null	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
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

2013-06-21