Mutagenetix > Incidental Mutations

Incidental Mutation 'R3889:Lcor'

310219

Institutional Source

Beutler Lab

Gene Symbol

Lcor

Ensembl Gene

ENSMUSG00000025019

Gene Name

ligand dependent nuclear receptor corepressor

Synonyms

A630025C20Rik, Mlr2, 3110023F06Rik

MMRRC Submission

040801-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

R3889 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41482645-41562246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41558356 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 126 (S126R)

Ref Sequence

ENSEMBL: ENSMUSP00000126441 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000067795
AA Change: S126R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067603
Gene: ENSMUSG00000025019
AA Change: S126R

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: S126R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126441
Gene: ENSMUSG00000025019
AA Change: S126R

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

Meta Mutation Damage Score

0.0834

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

94% (51/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	A	1: 85,940,551		probably null	Het
7530416G11Rik	A	G	15: 85,494,091	F117S	unknown	Het
Adamts5	A	G	16: 85,868,121	W652R	probably damaging	Het
Adamtsl4	G	T	3: 95,680,857	Q607K	probably damaging	Het
Atm	T	C	9: 53,506,636		probably benign	Het
Atp6v0a2	G	A	5: 124,639,265	R168Q	probably damaging	Het
B930094E09Rik	G	A	18: 31,609,689	S59N	unknown	Het
Baiap2l1	T	C	5: 144,278,535	T387A	possibly damaging	Het
Cct3	A	T	3: 88,321,027	Q472L	probably benign	Het
Chd3	C	T	11: 69,359,185	E623K	probably damaging	Het
Cps1	C	A	1: 67,165,500	T493K	possibly damaging	Het
Dclre1a	A	T	19: 56,545,320	C263S	probably benign	Het
Dmxl1	T	A	18: 49,878,259	M1161K	probably damaging	Het
Eif2ak1	A	T	5: 143,884,661	Q265L	probably benign	Het
Epha3	A	G	16: 63,610,964	F526L	probably damaging	Het
Etl4	C	T	2: 20,529,961	Q76*	probably null	Het
Fat2	C	A	11: 55,281,763	G2708V	probably damaging	Het
Fgd6	G	A	10: 94,089,637	E853K	probably damaging	Het
Fn1	T	C	1: 71,640,306	Y511C	probably damaging	Het
Foxd2	T	C	4: 114,908,286	H179R	unknown	Het
Fsd1	A	G	17: 55,993,893	K251E	probably benign	Het
Gjc3	T	A	5: 137,957,843	N60I	possibly damaging	Het
Gpc5	T	C	14: 115,370,060	M358T	probably benign	Het
H6pd	T	A	4: 149,995,773	Y197F	possibly damaging	Het
Hip1r	C	T	5: 124,001,791	R986*	probably null	Het
Igkv9-120	A	G	6: 68,050,378	D92G	probably damaging	Het
Ikbkap	G	A	4: 56,759,852	R1138C	probably damaging	Het
Il6	A	G	5: 30,018,068	K128E	possibly damaging	Het
Irf4	T	C	13: 30,761,490		probably benign	Het
Ltbp2	A	G	12: 84,784,907		probably benign	Het
Pcmt1	C	T	10: 7,649,050		probably null	Het
Plekhm2	C	T	4: 141,641,990		probably benign	Het
Prkca	C	T	11: 107,979,240	G450R	probably damaging	Het
Psme3	C	A	11: 101,319,456	P82T	probably damaging	Het
Rgs11	T	C	17: 26,207,587	I262T	probably damaging	Het
Rreb1	G	T	13: 37,893,965	R51L	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,579,906		probably benign	Het
Serpina1e	A	T	12: 103,950,873	V179E	probably damaging	Het
Sgo2b	T	C	8: 63,927,743	Q685R	possibly damaging	Het
Slc15a2	A	G	16: 36,782,304	F65S	probably damaging	Het
Slc25a45	C	T	19: 5,880,633		probably benign	Het
Snapc4	G	A	2: 26,365,498	Q1005*	probably null	Het
Spen	A	G	4: 141,477,881	V1145A	unknown	Het
Stub1	T	C	17: 25,831,302		probably benign	Het
Taar8a	A	G	10: 24,077,025	I176V	probably benign	Het
Tacr2	G	A	10: 62,265,086	C325Y	probably damaging	Het
Tbc1d17	T	A	7: 44,845,938	H154L	probably damaging	Het
Tll1	A	T	8: 64,205,224	C54S	possibly damaging	Het
Tpsb2	G	A	17: 25,367,483	V181I	probably damaging	Het
Trak1	A	G	9: 121,445,873	N146S	probably null	Het
Vmn1r177	T	C	7: 23,865,864	I196V	possibly damaging	Het
Zfp820	T	C	17: 21,818,896	I484V	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
IGL03118:Lcor	APN	19	41558369	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- AAACTAACTGCTGAGACCATGTG -3'
(R):5'- GCTGTCCGTGATTCTGTAATCC -3'

Sequencing Primer
(F):5'- AATAAAGGAGTGGTCCCC -3'
(R):5'- TCTGTAATCCAGACGGACCAAGG -3'

Posted On

2015-04-17