Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01320:Ncor2'

74007

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ncor2

Ensembl Gene

ENSMUSG00000029478

Gene Name

nuclear receptor co-repressor 2

Synonyms

SMRT, SMRTe

Accession Numbers

Ncbi RefSeq: NM_011424.3, NM_001253904.1, NM_001253905.1; MGI:1337080

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01320

Quality Score

Status

Chromosome

Chromosomal Location

125017153-125179219 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125109927 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 11 (V11A)

Ref Sequence

ENSEMBL: ENSMUSP00000107024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055256] [ENSMUST00000086083] [ENSMUST00000111393] [ENSMUST00000111394] [ENSMUST00000111398] [ENSMUST00000111402]

AlphaFold

Q9WU42

Predicted Effect

unknown
Transcript: ENSMUST00000055256
AA Change: V186A

SMART Domains

Protein: ENSMUSP00000055954
Gene: ENSMUSG00000029478
AA Change: V186A

Domain	Start	End	E-Value	Type
low complexity region	147	154	N/A	INTRINSIC
coiled coil region	167	207	N/A	INTRINSIC
SANT	428	476	4.42e-6	SMART
coiled coil region	494	550	N/A	INTRINSIC
SANT	607	655	1.43e-14	SMART
low complexity region	668	686	N/A	INTRINSIC
low complexity region	699	726	N/A	INTRINSIC
low complexity region	768	813	N/A	INTRINSIC
low complexity region	822	828	N/A	INTRINSIC
low complexity region	848	860	N/A	INTRINSIC
low complexity region	867	874	N/A	INTRINSIC
low complexity region	905	919	N/A	INTRINSIC
low complexity region	935	944	N/A	INTRINSIC
low complexity region	989	1000	N/A	INTRINSIC
low complexity region	1011	1025	N/A	INTRINSIC
low complexity region	1027	1043	N/A	INTRINSIC
low complexity region	1086	1096	N/A	INTRINSIC
low complexity region	1100	1116	N/A	INTRINSIC
low complexity region	1366	1380	N/A	INTRINSIC
low complexity region	1481	1497	N/A	INTRINSIC
low complexity region	1616	1622	N/A	INTRINSIC
low complexity region	1709	1726	N/A	INTRINSIC
low complexity region	1737	1754	N/A	INTRINSIC
low complexity region	1764	1776	N/A	INTRINSIC
low complexity region	1800	1807	N/A	INTRINSIC
low complexity region	1921	1939	N/A	INTRINSIC
low complexity region	1959	1975	N/A	INTRINSIC
low complexity region	2062	2076	N/A	INTRINSIC
PDB:2GPV\|I	2293	2314	8e-8	PDB
low complexity region	2324	2336	N/A	INTRINSIC
low complexity region	2433	2453	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000086083
AA Change: V186A

SMART Domains

Protein: ENSMUSP00000083250
Gene: ENSMUSG00000029478
AA Change: V186A

Domain	Start	End	E-Value	Type
low complexity region	147	154	N/A	INTRINSIC
coiled coil region	167	207	N/A	INTRINSIC
SANT	428	476	4.42e-6	SMART
coiled coil region	494	550	N/A	INTRINSIC
SANT	607	655	1.43e-14	SMART
low complexity region	668	686	N/A	INTRINSIC
low complexity region	699	726	N/A	INTRINSIC
low complexity region	768	813	N/A	INTRINSIC
low complexity region	822	828	N/A	INTRINSIC
low complexity region	848	860	N/A	INTRINSIC
low complexity region	867	874	N/A	INTRINSIC
low complexity region	905	919	N/A	INTRINSIC
low complexity region	935	944	N/A	INTRINSIC
low complexity region	988	999	N/A	INTRINSIC
low complexity region	1010	1024	N/A	INTRINSIC
low complexity region	1026	1042	N/A	INTRINSIC
low complexity region	1085	1095	N/A	INTRINSIC
low complexity region	1099	1115	N/A	INTRINSIC
low complexity region	1364	1378	N/A	INTRINSIC
low complexity region	1479	1495	N/A	INTRINSIC
low complexity region	1614	1620	N/A	INTRINSIC
low complexity region	1707	1724	N/A	INTRINSIC
low complexity region	1735	1752	N/A	INTRINSIC
low complexity region	1762	1774	N/A	INTRINSIC
low complexity region	1798	1805	N/A	INTRINSIC
low complexity region	1916	1934	N/A	INTRINSIC
low complexity region	1954	1970	N/A	INTRINSIC
low complexity region	2057	2071	N/A	INTRINSIC
PDB:2GPV\|I	2288	2309	8e-8	PDB
low complexity region	2319	2331	N/A	INTRINSIC
low complexity region	2428	2448	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111393
AA Change: V11A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107024
Gene: ENSMUSG00000029478
AA Change: V11A

Domain	Start	End	E-Value	Type
coiled coil region	1	32	N/A	INTRINSIC
SANT	253	301	4.42e-6	SMART
coiled coil region	319	375	N/A	INTRINSIC
SANT	432	480	1.43e-14	SMART
low complexity region	493	511	N/A	INTRINSIC
low complexity region	524	551	N/A	INTRINSIC
low complexity region	593	638	N/A	INTRINSIC
low complexity region	647	653	N/A	INTRINSIC
low complexity region	673	685	N/A	INTRINSIC
low complexity region	692	699	N/A	INTRINSIC
low complexity region	730	744	N/A	INTRINSIC
low complexity region	760	769	N/A	INTRINSIC
low complexity region	813	824	N/A	INTRINSIC
low complexity region	835	849	N/A	INTRINSIC
low complexity region	851	867	N/A	INTRINSIC
low complexity region	910	920	N/A	INTRINSIC
low complexity region	924	940	N/A	INTRINSIC
low complexity region	1225	1239	N/A	INTRINSIC
low complexity region	1340	1356	N/A	INTRINSIC
low complexity region	1475	1481	N/A	INTRINSIC
low complexity region	1568	1585	N/A	INTRINSIC
low complexity region	1596	1613	N/A	INTRINSIC
low complexity region	1623	1635	N/A	INTRINSIC
low complexity region	1659	1666	N/A	INTRINSIC
low complexity region	1780	1798	N/A	INTRINSIC
low complexity region	1818	1834	N/A	INTRINSIC
low complexity region	1921	1935	N/A	INTRINSIC
PDB:2GPV\|I	2152	2173	7e-8	PDB
low complexity region	2183	2195	N/A	INTRINSIC
low complexity region	2292	2312	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111394

SMART Domains

Protein: ENSMUSP00000107025
Gene: ENSMUSG00000029478

Domain	Start	End	E-Value	Type
SANT	209	257	4.42e-6	SMART
coiled coil region	275	331	N/A	INTRINSIC
SANT	388	436	1.43e-14	SMART
low complexity region	449	467	N/A	INTRINSIC
low complexity region	480	507	N/A	INTRINSIC
low complexity region	549	594	N/A	INTRINSIC
low complexity region	603	609	N/A	INTRINSIC
low complexity region	629	641	N/A	INTRINSIC
low complexity region	648	655	N/A	INTRINSIC
low complexity region	686	700	N/A	INTRINSIC
low complexity region	716	725	N/A	INTRINSIC
low complexity region	769	780	N/A	INTRINSIC
low complexity region	791	805	N/A	INTRINSIC
low complexity region	807	823	N/A	INTRINSIC
low complexity region	866	876	N/A	INTRINSIC
low complexity region	880	896	N/A	INTRINSIC
low complexity region	1146	1160	N/A	INTRINSIC
low complexity region	1261	1277	N/A	INTRINSIC
low complexity region	1396	1402	N/A	INTRINSIC
low complexity region	1489	1506	N/A	INTRINSIC
low complexity region	1517	1534	N/A	INTRINSIC
low complexity region	1544	1556	N/A	INTRINSIC
low complexity region	1580	1587	N/A	INTRINSIC
low complexity region	1701	1719	N/A	INTRINSIC
low complexity region	1739	1755	N/A	INTRINSIC
low complexity region	1842	1856	N/A	INTRINSIC
PDB:2GPV\|I	2073	2094	7e-8	PDB
low complexity region	2104	2116	N/A	INTRINSIC
low complexity region	2213	2233	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000111398
AA Change: V186A

SMART Domains

Protein: ENSMUSP00000107029
Gene: ENSMUSG00000029478
AA Change: V186A

Domain	Start	End	E-Value	Type
low complexity region	147	154	N/A	INTRINSIC
coiled coil region	167	207	N/A	INTRINSIC
SANT	428	476	4.42e-6	SMART
coiled coil region	494	550	N/A	INTRINSIC
SANT	607	655	1.43e-14	SMART
low complexity region	668	686	N/A	INTRINSIC
low complexity region	699	726	N/A	INTRINSIC
low complexity region	768	813	N/A	INTRINSIC
low complexity region	822	828	N/A	INTRINSIC
low complexity region	848	860	N/A	INTRINSIC
low complexity region	867	874	N/A	INTRINSIC
low complexity region	905	919	N/A	INTRINSIC
low complexity region	935	944	N/A	INTRINSIC
low complexity region	988	999	N/A	INTRINSIC
low complexity region	1010	1024	N/A	INTRINSIC
low complexity region	1026	1042	N/A	INTRINSIC
low complexity region	1085	1095	N/A	INTRINSIC
low complexity region	1099	1115	N/A	INTRINSIC
low complexity region	1365	1379	N/A	INTRINSIC
low complexity region	1480	1496	N/A	INTRINSIC
low complexity region	1615	1621	N/A	INTRINSIC
low complexity region	1708	1725	N/A	INTRINSIC
low complexity region	1736	1753	N/A	INTRINSIC
low complexity region	1763	1775	N/A	INTRINSIC
low complexity region	1799	1806	N/A	INTRINSIC
low complexity region	1920	1938	N/A	INTRINSIC
low complexity region	1958	1974	N/A	INTRINSIC
low complexity region	2061	2075	N/A	INTRINSIC
PDB:2GPV\|I	2292	2313	8e-8	PDB
low complexity region	2323	2335	N/A	INTRINSIC
low complexity region	2432	2452	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000111402
AA Change: V186A

SMART Domains

Protein: ENSMUSP00000107033
Gene: ENSMUSG00000029478
AA Change: V186A

Domain	Start	End	E-Value	Type
Pfam:GPS2_interact	141	229	4.9e-41	PFAM
SANT	428	476	4.42e-6	SMART
coiled coil region	494	550	N/A	INTRINSIC
SANT	607	655	1.43e-14	SMART
low complexity region	668	686	N/A	INTRINSIC
low complexity region	699	726	N/A	INTRINSIC
low complexity region	768	813	N/A	INTRINSIC
low complexity region	822	828	N/A	INTRINSIC
low complexity region	848	860	N/A	INTRINSIC
low complexity region	867	874	N/A	INTRINSIC
low complexity region	905	919	N/A	INTRINSIC
low complexity region	935	944	N/A	INTRINSIC
low complexity region	988	999	N/A	INTRINSIC
low complexity region	1010	1024	N/A	INTRINSIC
low complexity region	1026	1042	N/A	INTRINSIC
low complexity region	1085	1095	N/A	INTRINSIC
low complexity region	1099	1115	N/A	INTRINSIC
low complexity region	1400	1414	N/A	INTRINSIC
low complexity region	1515	1531	N/A	INTRINSIC
low complexity region	1650	1656	N/A	INTRINSIC
low complexity region	1743	1760	N/A	INTRINSIC
low complexity region	1771	1788	N/A	INTRINSIC
low complexity region	1798	1810	N/A	INTRINSIC
low complexity region	1834	1841	N/A	INTRINSIC
low complexity region	1955	1973	N/A	INTRINSIC
low complexity region	1993	2009	N/A	INTRINSIC
low complexity region	2096	2110	N/A	INTRINSIC
PDB:2GPV\|I	2327	2348	8e-8	PDB
low complexity region	2358	2370	N/A	INTRINSIC
low complexity region	2467	2487	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

Strain: 3765904; 4329504
Lethality: E1-E16
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011]
PHENOTYPE: Mice homozygous for a null allele die before E16.5 of heart defects and exhibit neural defects. [provided by MGI curators]

Allele List at MGI

All alleles(145) : Targeted(2) Gene trapped(143)

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,575,588	E229G	probably benign	Het
Abca16	T	A	7: 120,439,199	L368Q	probably damaging	Het
Ankrd17	A	T	5: 90,260,129	S1410T	probably damaging	Het
Arntl	T	C	7: 113,303,407	I421T	probably damaging	Het
Asb8	A	G	15: 98,141,278		probably benign	Het
Chrdl2	A	G	7: 100,017,041	Y56C	probably damaging	Het
Crnn	T	C	3: 93,148,212	S102P	probably damaging	Het
Cyb5a	T	C	18: 84,879,523	I115T	probably damaging	Het
Daw1	T	C	1: 83,198,180	I213T	possibly damaging	Het
Dcp1b	T	A	6: 119,215,075	S317R	probably benign	Het
Dnah7a	T	C	1: 53,434,046	M3474V	probably benign	Het
E2f7	G	A	10: 110,754,093	V36I	probably benign	Het
Esrp1	A	G	4: 11,384,374	I103T	possibly damaging	Het
Hap1	G	A	11: 100,349,380	T530I	probably damaging	Het
Hps3	T	C	3: 20,030,469	N185S	probably benign	Het
Klra1	T	A	6: 130,364,261	I250F	probably benign	Het
Lipn	A	G	19: 34,084,640	T332A	probably benign	Het
Ltbp4	A	G	7: 27,328,359		probably benign	Het
Nipsnap2	C	T	5: 129,744,764	T108M	probably damaging	Het
Olfr153	T	A	2: 87,532,285	M84K	probably benign	Het
Olfr479	A	G	7: 108,054,981		probably benign	Het
Ppid	A	G	3: 79,595,277	E46G	probably damaging	Het
Rrp12	A	G	19: 41,877,936	L626P	probably damaging	Het
Slc6a15	A	T	10: 103,404,745	I410F	probably benign	Het
Sorcs1	A	G	19: 50,288,079		probably benign	Het
Src	G	A	2: 157,469,503	G461R	probably damaging	Het
St8sia5	A	T	18: 77,254,622	T307S	probably damaging	Het
Stac2	T	C	11: 98,040,095		probably null	Het
Tiam2	T	C	17: 3,505,745	L77P	probably damaging	Het
Tmem87b	G	T	2: 128,831,216	G190V	probably damaging	Het
Trav7-6	T	C	14: 53,717,108	S32P	possibly damaging	Het
Unc45b	A	G	11: 82,912,393		probably null	Het
Wnt1	C	A	15: 98,792,523	D244E	possibly damaging	Het

Other mutations in Ncor2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Ncor2	APN	5	125042743	critical splice donor site	probably null
IGL00519:Ncor2	APN	5	125084924	missense	unknown
IGL00900:Ncor2	APN	5	125025784	missense	probably damaging	1.00
IGL00950:Ncor2	APN	5	125086890	missense	unknown
IGL01382:Ncor2	APN	5	125055773	missense	probably damaging	0.96
IGL01573:Ncor2	APN	5	125085026	missense	unknown
IGL01721:Ncor2	APN	5	125050937	missense	probably damaging	1.00
IGL01875:Ncor2	APN	5	125065870	missense	unknown
IGL02090:Ncor2	APN	5	125034403	missense	probably damaging	0.99
IGL02192:Ncor2	APN	5	125024237	missense	probably damaging	1.00
IGL02396:Ncor2	APN	5	125037914	missense	probably damaging	1.00
IGL02934:Ncor2	APN	5	125025557	missense	probably benign	0.33
IGL02997:Ncor2	APN	5	125119570	intron	probably benign
R0019:Ncor2	UTSW	5	125119481	critical splice donor site	probably null
R0331:Ncor2	UTSW	5	125084917	missense	unknown
R0333:Ncor2	UTSW	5	125034344	splice site	probably benign
R0403:Ncor2	UTSW	5	125033337	missense	possibly damaging	0.73
R0557:Ncor2	UTSW	5	125106305	nonsense	probably null
R0562:Ncor2	UTSW	5	125085029	missense	unknown
R0671:Ncor2	UTSW	5	125049387	missense	probably benign	0.13
R0699:Ncor2	UTSW	5	125029112	unclassified	probably benign
R0865:Ncor2	UTSW	5	125038982	missense	probably benign	0.17
R1183:Ncor2	UTSW	5	125023521	missense	possibly damaging	0.65
R1325:Ncor2	UTSW	5	125118780	intron	probably benign
R1344:Ncor2	UTSW	5	125025446	missense	probably damaging	1.00
R1433:Ncor2	UTSW	5	125109975	intron	probably benign
R1481:Ncor2	UTSW	5	125027138	nonsense	probably null
R1539:Ncor2	UTSW	5	125109939	missense	probably benign	0.07
R1558:Ncor2	UTSW	5	125033546	missense	probably damaging	1.00
R1585:Ncor2	UTSW	5	125084998	missense	unknown
R1611:Ncor2	UTSW	5	125110020	intron	probably benign
R1764:Ncor2	UTSW	5	125028615	missense	possibly damaging	0.91
R1789:Ncor2	UTSW	5	125019890	missense	probably damaging	1.00
R1809:Ncor2	UTSW	5	125118793	intron	probably benign
R1901:Ncor2	UTSW	5	125025425	missense	probably benign	0.39
R1946:Ncor2	UTSW	5	125034412	missense	probably damaging	1.00
R1970:Ncor2	UTSW	5	125038918	missense	probably damaging	0.99
R2048:Ncor2	UTSW	5	125084932	missense	unknown
R2137:Ncor2	UTSW	5	125030712	missense	probably damaging	1.00
R2270:Ncor2	UTSW	5	125037955	missense	probably benign	0.33
R2380:Ncor2	UTSW	5	125036080	missense	possibly damaging	0.89
R2570:Ncor2	UTSW	5	125028800	critical splice acceptor site	probably null
R2918:Ncor2	UTSW	5	125025760	missense	probably damaging	0.99
R2921:Ncor2	UTSW	5	125055791	missense	probably damaging	1.00
R2922:Ncor2	UTSW	5	125055791	missense	probably damaging	1.00
R2923:Ncor2	UTSW	5	125055791	missense	probably damaging	1.00
R3116:Ncor2	UTSW	5	125024166	missense	probably damaging	1.00
R3768:Ncor2	UTSW	5	125028687	missense	probably damaging	1.00
R3826:Ncor2	UTSW	5	125118692	intron	probably benign
R3829:Ncor2	UTSW	5	125118692	intron	probably benign
R3830:Ncor2	UTSW	5	125118692	intron	probably benign
R3951:Ncor2	UTSW	5	125032256	missense	possibly damaging	0.94
R4175:Ncor2	UTSW	5	125050956	missense	probably damaging	0.99
R4360:Ncor2	UTSW	5	125028972	missense	probably damaging	1.00
R4470:Ncor2	UTSW	5	125102641	critical splice donor site	probably null
R4490:Ncor2	UTSW	5	125036815	splice site	probably null
R4573:Ncor2	UTSW	5	125055825	missense	probably damaging	0.99
R4611:Ncor2	UTSW	5	125030859	missense	probably damaging	1.00
R4799:Ncor2	UTSW	5	125037060	critical splice donor site	probably null
R4851:Ncor2	UTSW	5	125033367	missense	possibly damaging	0.93
R4853:Ncor2	UTSW	5	125025105	missense	probably damaging	0.99
R4853:Ncor2	UTSW	5	125081183	missense	unknown
R4896:Ncor2	UTSW	5	125049340	critical splice donor site	probably null
R4997:Ncor2	UTSW	5	125034010	missense	probably damaging	0.99
R5057:Ncor2	UTSW	5	125048066	missense	possibly damaging	0.86
R5253:Ncor2	UTSW	5	125026930	missense	probably benign	0.44
R5461:Ncor2	UTSW	5	125027113	missense	probably damaging	1.00
R5585:Ncor2	UTSW	5	125067911	nonsense	probably null
R5638:Ncor2	UTSW	5	125048300	missense	probably benign	0.33
R5879:Ncor2	UTSW	5	125026775	unclassified	probably benign
R5967:Ncor2	UTSW	5	125068984	missense	unknown
R5999:Ncor2	UTSW	5	125033441	missense	probably damaging	1.00
R6020:Ncor2	UTSW	5	125020011	missense	probably benign	0.14
R6109:Ncor2	UTSW	5	125055846	missense	probably damaging	1.00
R6423:Ncor2	UTSW	5	125087902	missense	unknown
R6462:Ncor2	UTSW	5	125024172	missense	probably damaging	1.00
R6478:Ncor2	UTSW	5	125110005	intron	probably benign
R7074:Ncor2	UTSW	5	125049366	nonsense	probably null
R7179:Ncor2	UTSW	5	125055783	missense	unknown
R7261:Ncor2	UTSW	5	125110079	splice site	probably null
R7263:Ncor2	UTSW	5	125032132	missense
R7273:Ncor2	UTSW	5	125023623	missense
R7282:Ncor2	UTSW	5	125020040	missense
R7570:Ncor2	UTSW	5	125030089	missense
R7725:Ncor2	UTSW	5	125023566	missense
R7747:Ncor2	UTSW	5	125027038	missense
R7748:Ncor2	UTSW	5	125109967	missense	unknown
R7825:Ncor2	UTSW	5	125037077	missense	possibly damaging	0.53
R8008:Ncor2	UTSW	5	125067919	missense	unknown
R8126:Ncor2	UTSW	5	125106204	missense	unknown
R8137:Ncor2	UTSW	5	125037893	missense
R8706:Ncor2	UTSW	5	125067946	missense	unknown
R8751:Ncor2	UTSW	5	125038900	missense
R8819:Ncor2	UTSW	5	125029227	missense
R8820:Ncor2	UTSW	5	125029227	missense
R8824:Ncor2	UTSW	5	125118757	missense
R8867:Ncor2	UTSW	5	125102675	missense	unknown
R8919:Ncor2	UTSW	5	125029189	missense
R8922:Ncor2	UTSW	5	125086875	missense	unknown
R9076:Ncor2	UTSW	5	125034022	missense
R9249:Ncor2	UTSW	5	125109924	missense	unknown
R9276:Ncor2	UTSW	5	125036086	missense
R9362:Ncor2	UTSW	5	125018201	missense
R9667:Ncor2	UTSW	5	125048481	missense	unknown
R9684:Ncor2	UTSW	5	125025075	missense
Z1088:Ncor2	UTSW	5	125067788	missense	unknown
Z1088:Ncor2	UTSW	5	125086840	critical splice donor site	probably null
Z1177:Ncor2	UTSW	5	125036849	missense
Z1177:Ncor2	UTSW	5	125047994	missense	probably damaging	0.98

Posted On

2013-10-07