Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03118:Lcor'

409869

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lcor

Ensembl Gene

ENSMUSG00000025019

Gene Name

ligand dependent nuclear receptor corepressor

Synonyms

A630025C20Rik, Mlr2, 3110023F06Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.764) question?

Stock #

IGL03118

Quality Score

Status

Chromosome

Chromosomal Location

41482645-41562246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41558369 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 131 (P131S)

Ref Sequence

ENSEMBL: ENSMUSP00000126441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067795] [ENSMUST00000163929]

AlphaFold

Q6ZPI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000067795
AA Change: P131S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067603
Gene: ENSMUSG00000025019
AA Change: P131S

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
Pfam:HTH_psq	350	395	1.2e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163929
AA Change: P131S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126441
Gene: ENSMUSG00000025019
AA Change: P131S

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
Pfam:HTH_psq	350	395	5.1e-18	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LCOR is a transcriptional corepressor widely expressed in fetal and adult tissues that is recruited to agonist-bound nuclear receptors through a single LxxLL motif, also referred to as a nuclear receptor (NR) box (Fernandes et al., 2003 [PubMed 12535528]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,400,450	G921S	probably benign	Het
Abca8b	T	C	11: 109,947,181	T1082A	possibly damaging	Het
AF366264	C	T	8: 13,838,096		probably benign	Het
B9d2	T	C	7: 25,681,476		probably null	Het
Bfsp1	T	C	2: 143,827,333	E442G	possibly damaging	Het
Bpifb5	C	T	2: 154,236,753		probably benign	Het
Ccl1	A	G	11: 82,178,070	I47T	probably damaging	Het
Cln3	T	C	7: 126,575,397	I285V	probably null	Het
Cyp4a12b	G	T	4: 115,432,976	R242I	possibly damaging	Het
Dcc	T	C	18: 71,420,273	T771A	probably benign	Het
Erbb4	T	C	1: 68,042,719	D1052G	probably benign	Het
Fcnb	T	C	2: 28,076,618	N301S	probably benign	Het
Gm28043	A	C	17: 29,634,731	E403A	probably damaging	Het
Gria4	A	G	9: 4,793,804		probably benign	Het
Ighv5-12	T	A	12: 113,702,578	M1L	probably benign	Het
Il17rd	A	G	14: 27,093,395		probably null	Het
Kcnn3	T	A	3: 89,667,161	L660Q	probably damaging	Het
Leng1	T	C	7: 3,665,410	N13S	probably damaging	Het
Loxhd1	T	C	18: 77,380,464	V827A	probably damaging	Het
Mapk13	A	G	17: 28,777,735	Y208C	probably benign	Het
Mybpc3	T	C	2: 91,124,503	V453A	probably damaging	Het
Odam	T	C	5: 87,885,754	S15P	unknown	Het
Olfr26	A	T	9: 38,855,230	H56L	probably damaging	Het
Olfr323	A	T	11: 58,625,443	V201D	probably damaging	Het
Pcdhb19	T	C	18: 37,499,565		probably benign	Het
Per2	G	T	1: 91,444,619	Y244*	probably null	Het
Pik3ca	A	T	3: 32,459,935	I857F	probably damaging	Het
Pold1	T	A	7: 44,539,400	I447F	probably benign	Het
Ppm1f	T	A	16: 16,914,078	W131R	probably null	Het
Ppp2r2c	A	G	5: 36,926,316	Y67C	probably damaging	Het
Psmb10	A	T	8: 105,936,900	H155Q	probably damaging	Het
Ptbp3	G	A	4: 59,501,470	A149V	probably benign	Het
Pygb	T	A	2: 150,820,811	V566E	probably benign	Het
Rictor	G	A	15: 6,759,518	R205Q	possibly damaging	Het
Ryr1	T	A	7: 29,015,786	R4638W	unknown	Het
Sept3	G	A	15: 82,284,514		probably null	Het
Serpina3b	A	T	12: 104,131,054	D198V	probably benign	Het
Slc27a6	C	A	18: 58,556,743	H94N	probably benign	Het
Taf2	C	T	15: 55,052,163	V456M	probably damaging	Het
Tbpl2	T	C	2: 24,087,289	E238G	probably benign	Het
Ttn	C	T	2: 76,754,207	V20440I	possibly damaging	Het
Zfp638	T	A	6: 83,935,018		probably benign	Het
Zfp865	T	C	7: 5,034,645		probably benign	Het

Other mutations in Lcor

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Lcor	APN	19	41552700	missense	probably damaging	0.97
IGL02079:Lcor	APN	19	41555687	missense	probably benign	0.40
IGL02100:Lcor	APN	19	41558754	missense	possibly damaging	0.93
IGL02444:Lcor	APN	19	41559011	missense	probably damaging	0.99
IGL02578:Lcor	APN	19	41559150	missense	probably damaging	1.00
IGL03072:Lcor	APN	19	41558814	missense	possibly damaging	0.85
IGL03153:Lcor	APN	19	41558356	missense	probably damaging	0.98
R1756:Lcor	UTSW	19	41559266	missense	probably benign
R1889:Lcor	UTSW	19	41559128	missense	probably damaging	0.99
R1913:Lcor	UTSW	19	41558474	missense	probably benign	0.40
R1983:Lcor	UTSW	19	41558367	missense	probably damaging	0.98
R3885:Lcor	UTSW	19	41558356	missense	probably damaging	0.98
R3886:Lcor	UTSW	19	41558356	missense	probably damaging	0.98
R3888:Lcor	UTSW	19	41558356	missense	probably damaging	0.98
R3889:Lcor	UTSW	19	41558356	missense	probably damaging	0.98
R5160:Lcor	UTSW	19	41555614	missense	probably damaging	0.99
R6112:Lcor	UTSW	19	41559081	missense	possibly damaging	0.92
R7777:Lcor	UTSW	19	41558795	missense	probably benign	0.33
R8556:Lcor	UTSW	19	41558424	frame shift	probably null

Posted On

2016-08-02