Mutagenetix > Incidental Mutation

Incidental Mutation 'R7802:Cecr2'

600564

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

045857-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7802 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120643330-120748151 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120720808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 312 (I312T)

Ref Sequence

ENSEMBL: ENSMUSP00000098556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100993] [ENSMUST00000112686] [ENSMUST00000129803]

AlphaFold

E9Q2Z1

Predicted Effect

probably benign
Transcript: ENSMUST00000100993
AA Change: I312T

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: I312T

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: I312T

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: I312T

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: ENSMUST00000129803

SMART Domains

Protein: ENSMUSP00000118542
Gene: ENSMUSG00000071226

Domain	Start	End	E-Value	Type
low complexity region	7	18	N/A	INTRINSIC
coiled coil region	90	150	N/A	INTRINSIC
Pfam:Bromodomain	191	234	1.1e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (35/36)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	C	2: 31,650,438 (GRCm39)	V12A	probably benign	Het
Bahcc1	T	C	11: 120,165,518 (GRCm39)	F983S	probably benign	Het
Col6a2	A	T	10: 76,439,632 (GRCm39)	W711R	probably damaging	Het
Epb41l4a	A	G	18: 33,961,227 (GRCm39)	F436L	probably benign	Het
Epha1	C	T	6: 42,338,875 (GRCm39)	R641Q	possibly damaging	Het
Ercc6	C	A	14: 32,239,260 (GRCm39)	A116E	probably damaging	Het
Ermard	A	G	17: 15,281,423 (GRCm39)	E611G	probably benign	Het
Galnt16	T	G	12: 80,628,021 (GRCm39)	I239S	probably damaging	Het
Gna15	T	C	10: 81,350,175 (GRCm39)	R76G	probably benign	Het
Herc2	A	G	7: 55,813,838 (GRCm39)	Y2657C	probably damaging	Het
Mapkapk2	T	C	1: 130,984,639 (GRCm39)	I238V	possibly damaging	Het
Med13l	T	C	5: 118,866,655 (GRCm39)	S570P	probably benign	Het
Mrap	C	T	16: 90,546,247 (GRCm39)	T112M	probably benign	Het
Nadsyn1	T	C	7: 143,359,763 (GRCm39)	Q403R	probably benign	Het
Nostrin	T	C	2: 69,019,356 (GRCm39)	V467A	probably benign	Het
Palb2	A	T	7: 121,710,119 (GRCm39)		probably null	Het
Parp16	A	G	9: 65,137,179 (GRCm39)	N135S	probably benign	Het
Pcnt	A	T	10: 76,211,137 (GRCm39)		probably null	Het
Pde8b	T	C	13: 95,237,446 (GRCm39)	D116G	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Psmc5	T	C	11: 106,152,538 (GRCm39)		probably null	Het
Rsf1	G	T	7: 97,310,979 (GRCm39)	V570F		Het
Rundc3a	A	G	11: 102,290,835 (GRCm39)	E306G	probably benign	Het
Serpinb6b	C	T	13: 33,155,579 (GRCm39)			Het
Setx	A	G	2: 29,037,033 (GRCm39)	T1173A	probably benign	Het
Slamf8	A	G	1: 172,415,677 (GRCm39)	S54P	probably damaging	Het
Slc5a2	A	C	7: 127,870,970 (GRCm39)	D570A	possibly damaging	Het
Slco5a1	T	A	1: 13,060,700 (GRCm39)	Q7L	possibly damaging	Het
Stt3b	G	T	9: 115,105,949 (GRCm39)	S175R	probably damaging	Het
Taar6	T	A	10: 23,861,151 (GRCm39)	I132F	probably benign	Het
Tenm3	A	G	8: 48,689,500 (GRCm39)	V2029A	probably damaging	Het
Tgm4	A	G	9: 122,880,401 (GRCm39)		probably benign	Het
Tmt1a	A	T	15: 100,203,182 (GRCm39)	N152I	possibly damaging	Het
Togaram1	T	A	12: 65,013,758 (GRCm39)	C336*	probably null	Het
Ttn	G	A	2: 76,768,015 (GRCm39)	T3028M	unknown	Het
Vmn2r25	A	T	6: 123,828,791 (GRCm39)	I161N	possibly damaging	Het
Vwf	T	C	6: 125,643,640 (GRCm39)	C2394R		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
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
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'- TGCCTTACCCACCTGAACAG -3'
(R):5'- TGTCACCCAAGAACACTGTTAAG -3'

Sequencing Primer
(F):5'- TCCTAAAAGAGAGAGCTTTGCC -3'
(R):5'- TGTTAAGATAAAAAGGAATGCACCCC -3'

Posted On

2019-11-26