Mutagenetix > Incidental Mutation

Incidental Mutation 'R1911:Cecr2'

210260

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

039929-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120643330-120748151 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 120739526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

E9Q2Z1

Predicted Effect

probably benign
Transcript: ENSMUST00000100993

SMART Domains

Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226

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

SMART Domains

Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226

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

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.2%

Validation Efficiency

99% (99/100)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	A	6: 91,927,050 (GRCm39)		probably benign	Het
Abca7	T	C	10: 79,842,468 (GRCm39)	V1134A	probably benign	Het
Acaa2	A	G	18: 74,925,483 (GRCm39)	E82G	probably benign	Het
Acap1	T	C	11: 69,772,548 (GRCm39)	D521G	probably damaging	Het
Adam19	T	C	11: 46,012,281 (GRCm39)	V259A	probably damaging	Het
Adss1	T	C	12: 112,599,443 (GRCm39)	V140A	probably benign	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Aldh3b1	T	G	19: 3,971,187 (GRCm39)	D159A	probably damaging	Het
Ank1	T	C	8: 23,589,666 (GRCm39)	V589A	probably damaging	Het
Ano2	G	A	6: 125,990,654 (GRCm39)	D803N	probably benign	Het
Arid1b	A	G	17: 5,393,241 (GRCm39)	E2257G	probably damaging	Het
Asb17	T	C	3: 153,550,138 (GRCm39)	Y57H	probably benign	Het
Asph	T	C	4: 9,453,335 (GRCm39)	E646G	probably damaging	Het
Aspm	T	A	1: 139,405,832 (GRCm39)	I1573K	probably benign	Het
Bcas1	C	A	2: 170,229,863 (GRCm39)	D236Y	probably damaging	Het
Bcas2	G	T	3: 103,079,113 (GRCm39)	G9*	probably null	Het
Btaf1	A	G	19: 36,964,030 (GRCm39)	Q867R	probably benign	Het
Calhm3	C	T	19: 47,143,908 (GRCm39)	V132I	possibly damaging	Het
Ccer1	A	T	10: 97,530,539 (GRCm39)	I401F	possibly damaging	Het
Cdcp3	T	C	7: 130,839,818 (GRCm39)	V580A	probably damaging	Het
Cep104	G	A	4: 154,091,255 (GRCm39)	R925Q	possibly damaging	Het
Cep164	T	A	9: 45,682,104 (GRCm39)	M1900L	probably benign	Het
Crybg1	A	G	10: 43,873,673 (GRCm39)	V1145A	possibly damaging	Het
Cyp2a4	T	A	7: 26,008,399 (GRCm39)	N180K	possibly damaging	Het
Dennd4a	T	C	9: 64,796,368 (GRCm39)	L798P	probably damaging	Het
Dmxl1	T	C	18: 50,011,230 (GRCm39)	I1129T	probably benign	Het
Dnah2	T	C	11: 69,406,578 (GRCm39)	N555D	possibly damaging	Het
Dock1	T	A	7: 134,601,029 (GRCm39)	M988K	probably damaging	Het
Elp4	T	A	2: 105,533,088 (GRCm39)	H419L	probably damaging	Het
Endov	T	C	11: 119,393,177 (GRCm39)	V109A	possibly damaging	Het
Epha8	T	C	4: 136,663,625 (GRCm39)	Y477C	probably damaging	Het
Erlin1	A	G	19: 44,037,561 (GRCm39)	M188T	probably damaging	Het
Fhip1a	T	A	3: 85,568,525 (GRCm39)	D998V	probably benign	Het
Fhod3	A	T	18: 25,245,643 (GRCm39)	D1231V	possibly damaging	Het
Gimap3	T	A	6: 48,742,646 (GRCm39)	I95F	possibly damaging	Het
Gm10717	T	G	9: 3,026,317 (GRCm39)	F205C	probably damaging	Het
Grk1	C	A	8: 13,457,923 (GRCm39)	D274E	probably damaging	Het
Gsdmc2	G	A	15: 63,699,621 (GRCm39)	A269V	probably benign	Het
Krt33a	T	A	11: 99,903,175 (GRCm39)	Q289L	probably benign	Het
Krt76	T	A	15: 101,796,600 (GRCm39)	K403*	probably null	Het
Lcn4	T	C	2: 26,560,607 (GRCm39)		probably benign	Het
Mab21l1	T	C	3: 55,691,048 (GRCm39)	S212P	possibly damaging	Het
Mapk8ip3	A	C	17: 25,123,025 (GRCm39)	D610E	probably benign	Het
Mastl	G	T	2: 23,022,692 (GRCm39)	S677*	probably null	Het
Mfap3	T	C	11: 57,420,562 (GRCm39)	F181S	probably damaging	Het
Mlkl	T	C	8: 112,038,732 (GRCm39)		probably benign	Het
Mov10	G	A	3: 104,708,876 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,350,041 (GRCm39)	F595L	probably benign	Het
Nbas	T	A	12: 13,616,145 (GRCm39)	C2228S	probably benign	Het
Nit2	G	A	16: 56,982,046 (GRCm39)		probably benign	Het
Nod1	C	T	6: 54,921,425 (GRCm39)	V298M	probably damaging	Het
Or3a4	C	A	11: 73,945,210 (GRCm39)	R125L	probably damaging	Het
Or4c111	A	G	2: 88,843,565 (GRCm39)	L281P	probably damaging	Het
Or52b1	T	A	7: 104,978,590 (GRCm39)	I270F	probably benign	Het
Or6c210	A	T	10: 129,495,981 (GRCm39)	D102V	probably benign	Het
Or7g12	T	C	9: 18,900,196 (GRCm39)	L304P	probably damaging	Het
Osbpl5	C	A	7: 143,243,662 (GRCm39)	R864L	probably benign	Het
Pcnt	G	A	10: 76,204,650 (GRCm39)	T2585M	possibly damaging	Het
Pepd	C	T	7: 34,634,174 (GRCm39)		probably benign	Het
Pou6f2	T	C	13: 18,326,548 (GRCm39)	I341V	probably damaging	Het
Pramel32	T	C	4: 88,548,309 (GRCm39)	Q32R	possibly damaging	Het
Prune2	T	A	19: 17,091,038 (GRCm39)	F281I	probably benign	Het
Psg19	T	G	7: 18,528,193 (GRCm39)	Q183H	probably damaging	Het
Psme4	T	G	11: 30,765,658 (GRCm39)	S587A	probably benign	Het
Ptpro	T	C	6: 137,377,617 (GRCm39)		probably benign	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rasgrp4	T	C	7: 28,838,302 (GRCm39)	V92A	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rexo5	C	T	7: 119,398,867 (GRCm39)	A68V	probably damaging	Het
Robo2	A	T	16: 73,755,213 (GRCm39)	N769K	probably damaging	Het
Sfrp5	C	T	19: 42,187,237 (GRCm39)	V278I	probably benign	Het
Sidt1	A	G	16: 44,102,234 (GRCm39)	S309P	possibly damaging	Het
Slc22a6	A	C	19: 8,599,246 (GRCm39)	Q292H	probably benign	Het
Slc4a3	G	A	1: 75,530,367 (GRCm39)	R690H	probably damaging	Het
Snx7	A	T	3: 117,623,317 (GRCm39)		probably null	Het
Spag6	T	A	2: 18,720,616 (GRCm39)	Y129*	probably null	Het
Srcap	T	C	7: 127,133,994 (GRCm39)	I905T	probably damaging	Het
St6gal1	T	G	16: 23,140,383 (GRCm39)	S185A	probably damaging	Het
Sult6b1	G	A	17: 79,196,393 (GRCm39)	H250Y	possibly damaging	Het
Tdrd6	T	G	17: 43,937,979 (GRCm39)	N1023T	probably benign	Het
Tecta	C	T	9: 42,249,232 (GRCm39)	E1877K	probably damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tex14	T	A	11: 87,385,861 (GRCm39)	D240E	probably damaging	Het
Tex47	T	C	5: 7,355,022 (GRCm39)	Y68H	probably damaging	Het
Thbs2	A	G	17: 14,910,104 (GRCm39)	V165A	probably benign	Het
Tmem126b	T	A	7: 90,118,367 (GRCm39)	Y171F	possibly damaging	Het
Tpsg1	G	T	17: 25,592,374 (GRCm39)	M46I	probably benign	Het
Trmt2a	A	G	16: 18,069,070 (GRCm39)	K304R	probably benign	Het
Ttc28	G	T	5: 111,428,616 (GRCm39)	R1845L	possibly damaging	Het
Umodl1	A	T	17: 31,211,128 (GRCm39)	T884S	possibly damaging	Het
Vmn2r77	A	G	7: 86,461,001 (GRCm39)	K776E	probably damaging	Het
Vmn2r88	T	C	14: 51,655,671 (GRCm39)	S627P	probably damaging	Het
Vrk1	T	C	12: 106,024,236 (GRCm39)		probably null	Het
Zfp644	A	G	5: 106,783,137 (GRCm39)	M1079T	possibly damaging	Het
Znrf1	T	C	8: 112,348,233 (GRCm39)	*41Q	probably null	Het
Znrf1	T	C	8: 112,348,244 (GRCm39)	F183L	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
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

Predicted Primers

PCR Primer
(F):5'- CCAGTCATTTTCAGCCCAGG -3'
(R):5'- GCTTTCAAACTGTAGTGTGCAG -3'

Sequencing Primer
(F):5'- GGCATACCCATCCCCTGTG -3'
(R):5'- TGGCTGTCCTGGAACTCAGAAATC -3'

Posted On

2014-06-30