Mutagenetix > Incidental Mutation

Incidental Mutation 'R3888:Lcor'

312887

Institutional Source

Beutler Lab

Gene Symbol

Lcor

Ensembl Gene

ENSMUSG00000025019

Gene Name

ligand dependent nuclear receptor corepressor

Synonyms

A630025C20Rik, Mlr2, 3110023F06Rik

MMRRC Submission

040800-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.468) question?

Stock #

R3888 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41482645-41562246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41558356 bp (GRCm38)

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]

AlphaFold

Q6ZPI3

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

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
4933407L21Rik	T	A	1: 85,940,551 (GRCm38)		probably null	Het
Acbd6	A	G	1: 155,624,897 (GRCm38)	D201G	probably damaging	Het
Adam17	G	A	12: 21,325,587 (GRCm38)	R744C	probably damaging	Het
Adss2	A	G	1: 177,767,769 (GRCm38)	Y402H	probably damaging	Het
Ano3	T	A	2: 110,885,000 (GRCm38)	K31I	probably damaging	Het
B930094E09Rik	G	A	18: 31,609,689 (GRCm38)	S59N	unknown	Het
Cmya5	T	G	13: 93,093,656 (GRCm38)	R1641S	probably benign	Het
Cps1	C	A	1: 67,165,500 (GRCm38)	T493K	possibly damaging	Het
Dmxl1	T	A	18: 49,878,259 (GRCm38)	M1161K	probably damaging	Het
Etl4	C	T	2: 20,529,961 (GRCm38)	Q76*	probably null	Het
Fn1	T	C	1: 71,640,306 (GRCm38)	Y511C	probably damaging	Het
Foxd2	T	C	4: 114,908,286 (GRCm38)	H179R	unknown	Het
Frem1	T	C	4: 82,913,607 (GRCm38)	R1991G	probably benign	Het
Gimap7	G	A	6: 48,723,845 (GRCm38)	E122K	probably benign	Het
Hps3	A	G	3: 20,003,223 (GRCm38)		probably null	Het
Kctd2	A	T	11: 115,427,519 (GRCm38)	K209N	probably damaging	Het
Lct	T	C	1: 128,304,226 (GRCm38)	M629V	probably damaging	Het
Lrp5	G	A	19: 3,612,330 (GRCm38)	R173C	probably damaging	Het
Muc5ac	T	C	7: 141,791,224 (GRCm38)	V144A	possibly damaging	Het
Mypn	T	C	10: 63,192,510 (GRCm38)	Y258C	probably damaging	Het
Ntf3	T	C	6: 126,102,442 (GRCm38)	M21V	probably benign	Het
Or4a71	T	A	2: 89,527,732 (GRCm38)	H226L	possibly damaging	Het
Or5b97	A	T	19: 12,901,133 (GRCm38)	C216S	probably benign	Het
Or6c1	A	T	10: 129,682,219 (GRCm38)	D173E	probably benign	Het
Or6c1	G	A	10: 129,682,218 (GRCm38)	H174Y	possibly damaging	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Rbm45	A	G	2: 76,375,424 (GRCm38)	S207G	probably benign	Het
Robo3	G	A	9: 37,422,181 (GRCm38)	Q723*	probably null	Het
Rreb1	G	T	13: 37,893,965 (GRCm38)	R51L	probably damaging	Het
Slc12a6	T	A	2: 112,267,030 (GRCm38)	L70Q	possibly damaging	Het
Slc15a2	A	G	16: 36,782,304 (GRCm38)	F65S	probably damaging	Het
Slitrk5	T	A	14: 111,679,797 (GRCm38)	C284*	probably null	Het
Smim17	G	T	7: 6,429,280 (GRCm38)	G74C	probably damaging	Het
Snapc4	G	A	2: 26,365,498 (GRCm38)	Q1005*	probably null	Het
Suv39h2	G	A	2: 3,464,808 (GRCm38)	T170I	probably benign	Het
Thrb	A	G	14: 18,033,551 (GRCm38)	K424R	probably damaging	Het
Tm4sf4	C	T	3: 57,437,745 (GRCm38)	Q191*	probably null	Het
Trak1	G	T	9: 121,442,797 (GRCm38)		probably null	Het
Ttn	A	G	2: 76,710,274 (GRCm38)	S25796P	probably damaging	Het
Ugp2	T	C	11: 21,353,366 (GRCm38)	R80G	probably benign	Het
Utp15	C	T	13: 98,259,166 (GRCm38)	V103I	probably benign	Het
Wdr3	A	T	3: 100,153,906 (GRCm38)	S249T	probably benign	Het
Zeb1	T	A	18: 5,748,743 (GRCm38)	D86E	probably damaging	Het

Other mutations in Lcor

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Lcor	APN	19	41,552,700 (GRCm38)	missense	probably damaging	0.97
IGL02079:Lcor	APN	19	41,555,687 (GRCm38)	missense	probably benign	0.40
IGL02100:Lcor	APN	19	41,558,754 (GRCm38)	missense	possibly damaging	0.93
IGL02444:Lcor	APN	19	41,559,011 (GRCm38)	missense	probably damaging	0.99
IGL02578:Lcor	APN	19	41,559,150 (GRCm38)	missense	probably damaging	1.00
IGL03072:Lcor	APN	19	41,558,814 (GRCm38)	missense	possibly damaging	0.85
IGL03118:Lcor	APN	19	41,558,369 (GRCm38)	missense	probably damaging	0.99
IGL03153:Lcor	APN	19	41,558,356 (GRCm38)	missense	probably damaging	0.98
BB003:Lcor	UTSW	19	41,582,569 (GRCm38)	missense	probably benign
BB013:Lcor	UTSW	19	41,582,569 (GRCm38)	missense	probably benign
R0006:Lcor	UTSW	19	41,584,899 (GRCm38)	missense	probably benign	0.00
R0686:Lcor	UTSW	19	41,582,372 (GRCm38)	missense	possibly damaging	0.73
R1104:Lcor	UTSW	19	41,586,063 (GRCm38)	missense	probably damaging	0.99
R1278:Lcor	UTSW	19	41,584,683 (GRCm38)	missense	probably benign	0.07
R1606:Lcor	UTSW	19	41,585,074 (GRCm38)	missense	probably benign	0.35
R1756:Lcor	UTSW	19	41,559,266 (GRCm38)	missense	probably benign
R1833:Lcor	UTSW	19	41,584,948 (GRCm38)	missense	probably benign	0.00
R1889:Lcor	UTSW	19	41,559,128 (GRCm38)	missense	probably damaging	0.99
R1905:Lcor	UTSW	19	41,583,574 (GRCm38)	missense	possibly damaging	0.73
R1913:Lcor	UTSW	19	41,558,474 (GRCm38)	missense	probably benign	0.40
R1983:Lcor	UTSW	19	41,558,367 (GRCm38)	missense	probably damaging	0.98
R2697:Lcor	UTSW	19	41,584,027 (GRCm38)	missense	probably benign	0.43
R2881:Lcor	UTSW	19	41,583,049 (GRCm38)	missense	probably damaging	1.00
R3885:Lcor	UTSW	19	41,558,356 (GRCm38)	missense	probably damaging	0.98
R3886:Lcor	UTSW	19	41,558,356 (GRCm38)	missense	probably damaging	0.98
R3889:Lcor	UTSW	19	41,558,356 (GRCm38)	missense	probably damaging	0.98
R4720:Lcor	UTSW	19	41,585,895 (GRCm38)	missense	probably benign	0.04
R4864:Lcor	UTSW	19	41,585,364 (GRCm38)	missense	probably benign
R4908:Lcor	UTSW	19	41,584,162 (GRCm38)	missense	probably benign	0.00
R5160:Lcor	UTSW	19	41,555,614 (GRCm38)	missense	probably damaging	0.99
R5193:Lcor	UTSW	19	41,582,530 (GRCm38)	missense	probably damaging	1.00
R5215:Lcor	UTSW	19	41,585,932 (GRCm38)	missense	probably damaging	1.00
R5276:Lcor	UTSW	19	41,585,039 (GRCm38)	missense	probably damaging	0.98
R5319:Lcor	UTSW	19	41,586,352 (GRCm38)	missense	probably damaging	0.99
R5321:Lcor	UTSW	19	41,585,204 (GRCm38)	missense	probably damaging	1.00
R5432:Lcor	UTSW	19	41,584,603 (GRCm38)	missense	probably damaging	1.00
R5605:Lcor	UTSW	19	41,582,863 (GRCm38)	missense	probably damaging	1.00
R5941:Lcor	UTSW	19	41,586,400 (GRCm38)	missense	probably damaging	1.00
R6020:Lcor	UTSW	19	41,583,547 (GRCm38)	missense	possibly damaging	0.88
R6024:Lcor	UTSW	19	41,583,957 (GRCm38)	missense	possibly damaging	0.84
R6112:Lcor	UTSW	19	41,559,081 (GRCm38)	missense	possibly damaging	0.92
R6149:Lcor	UTSW	19	41,585,202 (GRCm38)	missense	probably damaging	1.00
R6260:Lcor	UTSW	19	41,582,371 (GRCm38)	missense	possibly damaging	0.73
R6260:Lcor	UTSW	19	41,582,370 (GRCm38)	missense	probably null	0.91
R6476:Lcor	UTSW	19	41,583,079 (GRCm38)	missense	probably benign	0.04
R7051:Lcor	UTSW	19	41,585,752 (GRCm38)	missense	probably benign	0.05
R7285:Lcor	UTSW	19	41,584,315 (GRCm38)	missense	possibly damaging	0.91
R7372:Lcor	UTSW	19	41,585,506 (GRCm38)	missense	probably damaging	1.00
R7762:Lcor	UTSW	19	41,583,667 (GRCm38)	missense	probably benign	0.02
R7777:Lcor	UTSW	19	41,558,795 (GRCm38)	missense	probably benign	0.33
R7833:Lcor	UTSW	19	41,584,585 (GRCm38)	missense	probably benign	0.02
R7926:Lcor	UTSW	19	41,582,569 (GRCm38)	missense	probably benign
R8164:Lcor	UTSW	19	41,585,410 (GRCm38)	missense	probably damaging	1.00
R8319:Lcor	UTSW	19	41,582,904 (GRCm38)	missense	probably damaging	1.00
R8323:Lcor	UTSW	19	41,583,597 (GRCm38)	missense	probably benign	0.01
R8327:Lcor	UTSW	19	41,582,557 (GRCm38)	missense	probably damaging	1.00
R8423:Lcor	UTSW	19	41,585,449 (GRCm38)	missense	possibly damaging	0.95
R8556:Lcor	UTSW	19	41,558,424 (GRCm38)	frame shift	probably null
R8780:Lcor	UTSW	19	41,585,259 (GRCm38)	missense	probably damaging	1.00
R8781:Lcor	UTSW	19	41,585,259 (GRCm38)	missense	probably damaging	1.00
R8788:Lcor	UTSW	19	41,585,259 (GRCm38)	missense	probably damaging	1.00
R8798:Lcor	UTSW	19	41,585,259 (GRCm38)	missense	probably damaging	1.00
R9013:Lcor	UTSW	19	41,584,750 (GRCm38)	missense	probably damaging	1.00
R9035:Lcor	UTSW	19	41,584,960 (GRCm38)	missense	probably benign	0.00
R9065:Lcor	UTSW	19	41,585,259 (GRCm38)	missense	probably damaging	1.00
R9067:Lcor	UTSW	19	41,585,259 (GRCm38)	missense	probably damaging	1.00
R9083:Lcor	UTSW	19	41,586,400 (GRCm38)	missense	probably damaging	0.99
R9105:Lcor	UTSW	19	41,584,872 (GRCm38)	missense	possibly damaging	0.88
R9487:Lcor	UTSW	19	41,585,246 (GRCm38)	missense	probably damaging	1.00
R9573:Lcor	UTSW	19	41,585,032 (GRCm38)	missense	probably damaging	1.00
R9704:Lcor	UTSW	19	41,584,059 (GRCm38)	missense	possibly damaging	0.61
X0013:Lcor	UTSW	19	41,584,532 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAAACTAACTGCTGAGACCATGTG -3'
(R):5'- GCTGTCCGTGATTCTGTAATCCAG -3'

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

Posted On

2015-04-30