Mutagenetix > Incidental Mutation

Incidental Mutation 'R3886:Lcor'

309671

Institutional Source

Beutler Lab

Gene Symbol

Lcor

Ensembl Gene

ENSMUSG00000025019

Gene Name

ligand dependent nuclear receptor corepressor

Synonyms

LOC381224, A630025C20Rik, Gm340, 3110023F06Rik, Mlr2

MMRRC Submission

040798-MU

Accession Numbers

Essential gene?

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

Stock #

R3886 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41471076-41574975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41546795 bp (GRCm39)

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	A	1: 85,868,273 (GRCm39)		probably null	Het
Adam17	G	A	12: 21,375,588 (GRCm39)	R744C	probably damaging	Het
Adss2	A	G	1: 177,595,335 (GRCm39)	Y402H	probably damaging	Het
Ccdc73	A	T	2: 104,821,688 (GRCm39)	T546S	possibly damaging	Het
Cd22	T	C	7: 30,569,532 (GRCm39)	D354G	possibly damaging	Het
Chchd6	T	C	6: 89,444,433 (GRCm39)	E183G	probably damaging	Het
Col6a5	A	G	9: 105,808,129 (GRCm39)	L973P	unknown	Het
Cp	T	C	3: 20,043,275 (GRCm39)	L1021P	probably damaging	Het
Cplane1	T	A	15: 8,201,289 (GRCm39)	V22E	probably damaging	Het
Cps1	C	A	1: 67,204,659 (GRCm39)	T493K	possibly damaging	Het
D630045J12Rik	A	G	6: 38,119,633 (GRCm39)	V1703A	possibly damaging	Het
Dennd1a	T	C	2: 37,748,089 (GRCm39)	N376S	possibly damaging	Het
Dmxl1	T	A	18: 50,011,326 (GRCm39)	M1161K	probably damaging	Het
Ect2l	C	T	10: 18,044,206 (GRCm39)	V310M	probably damaging	Het
Fn1	T	C	1: 71,679,465 (GRCm39)	Y511C	probably damaging	Het
Foxd2	T	C	4: 114,765,483 (GRCm39)	H179R	unknown	Het
Gm8674	T	C	13: 50,056,199 (GRCm39)		noncoding transcript	Het
Ice1	T	C	13: 70,753,489 (GRCm39)	T866A	probably benign	Het
Jade2	C	T	11: 51,721,326 (GRCm39)	V201I	possibly damaging	Het
Kcnb2	T	C	1: 15,780,639 (GRCm39)	S504P	probably damaging	Het
Kcng4	T	C	8: 120,359,986 (GRCm39)	K130R	probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lrch2	C	G	X: 146,256,003 (GRCm39)	A437P	probably damaging	Het
Lrrk1	C	T	7: 65,942,112 (GRCm39)	V709I	probably damaging	Het
Mdh1	A	G	11: 21,509,832 (GRCm39)	V181A	probably damaging	Het
Or10g7	A	G	9: 39,905,835 (GRCm39)	H243R	probably damaging	Het
Or4a71	T	A	2: 89,358,076 (GRCm39)	H226L	possibly damaging	Het
Ppp1r3a	A	C	6: 14,719,911 (GRCm39)	D334E	possibly damaging	Het
Pramel17	T	C	4: 101,692,920 (GRCm39)	K360R	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbm45	A	G	2: 76,205,768 (GRCm39)	S207G	probably benign	Het
Relch	A	G	1: 105,619,938 (GRCm39)	N331S	probably benign	Het
Robo3	G	A	9: 37,333,477 (GRCm39)	Q723*	probably null	Het
Rreb1	G	A	13: 38,082,482 (GRCm39)		probably null	Het
Slc35f2	T	A	9: 53,724,241 (GRCm39)	S372T	probably benign	Het
Slitrk5	T	A	14: 111,917,229 (GRCm39)	C284*	probably null	Het
Snapc4	G	A	2: 26,255,510 (GRCm39)	Q1005*	probably null	Het
Tent4b	C	A	8: 88,927,043 (GRCm39)	A151E	probably benign	Het
Tnxb	A	G	17: 34,937,885 (GRCm39)	D3896G	probably damaging	Het
Tti1	A	G	2: 157,850,870 (GRCm39)	V123A	possibly damaging	Het
Usp1	T	C	4: 98,817,973 (GRCm39)	C147R	probably damaging	Het
Vill	A	G	9: 118,895,782 (GRCm39)	N106S	probably benign	Het

Other mutations in Lcor

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Lcor	APN	19	41,541,139 (GRCm39)	missense	probably damaging	0.97
IGL02079:Lcor	APN	19	41,544,126 (GRCm39)	missense	probably benign	0.40
IGL02100:Lcor	APN	19	41,547,193 (GRCm39)	missense	possibly damaging	0.93
IGL02444:Lcor	APN	19	41,547,450 (GRCm39)	missense	probably damaging	0.99
IGL02578:Lcor	APN	19	41,547,589 (GRCm39)	missense	probably damaging	1.00
IGL03072:Lcor	APN	19	41,547,253 (GRCm39)	missense	possibly damaging	0.85
IGL03118:Lcor	APN	19	41,546,808 (GRCm39)	missense	probably damaging	0.99
IGL03153:Lcor	APN	19	41,546,795 (GRCm39)	missense	probably damaging	0.98
BB003:Lcor	UTSW	19	41,571,008 (GRCm39)	missense	probably benign
BB013:Lcor	UTSW	19	41,571,008 (GRCm39)	missense	probably benign
R0006:Lcor	UTSW	19	41,573,338 (GRCm39)	missense	probably benign	0.00
R0686:Lcor	UTSW	19	41,570,811 (GRCm39)	missense	possibly damaging	0.73
R1104:Lcor	UTSW	19	41,574,502 (GRCm39)	missense	probably damaging	0.99
R1278:Lcor	UTSW	19	41,573,122 (GRCm39)	missense	probably benign	0.07
R1606:Lcor	UTSW	19	41,573,513 (GRCm39)	missense	probably benign	0.35
R1756:Lcor	UTSW	19	41,547,705 (GRCm39)	missense	probably benign
R1833:Lcor	UTSW	19	41,573,387 (GRCm39)	missense	probably benign	0.00
R1889:Lcor	UTSW	19	41,547,567 (GRCm39)	missense	probably damaging	0.99
R1905:Lcor	UTSW	19	41,572,013 (GRCm39)	missense	possibly damaging	0.73
R1913:Lcor	UTSW	19	41,546,913 (GRCm39)	missense	probably benign	0.40
R1983:Lcor	UTSW	19	41,546,806 (GRCm39)	missense	probably damaging	0.98
R2697:Lcor	UTSW	19	41,572,466 (GRCm39)	missense	probably benign	0.43
R2881:Lcor	UTSW	19	41,571,488 (GRCm39)	missense	probably damaging	1.00
R3885:Lcor	UTSW	19	41,546,795 (GRCm39)	missense	probably damaging	0.98
R3888:Lcor	UTSW	19	41,546,795 (GRCm39)	missense	probably damaging	0.98
R3889:Lcor	UTSW	19	41,546,795 (GRCm39)	missense	probably damaging	0.98
R4720:Lcor	UTSW	19	41,574,334 (GRCm39)	missense	probably benign	0.04
R4864:Lcor	UTSW	19	41,573,803 (GRCm39)	missense	probably benign
R4908:Lcor	UTSW	19	41,572,601 (GRCm39)	missense	probably benign	0.00
R5160:Lcor	UTSW	19	41,544,053 (GRCm39)	missense	probably damaging	0.99
R5193:Lcor	UTSW	19	41,570,969 (GRCm39)	missense	probably damaging	1.00
R5215:Lcor	UTSW	19	41,574,371 (GRCm39)	missense	probably damaging	1.00
R5276:Lcor	UTSW	19	41,573,478 (GRCm39)	missense	probably damaging	0.98
R5319:Lcor	UTSW	19	41,574,791 (GRCm39)	missense	probably damaging	0.99
R5321:Lcor	UTSW	19	41,573,643 (GRCm39)	missense	probably damaging	1.00
R5432:Lcor	UTSW	19	41,573,042 (GRCm39)	missense	probably damaging	1.00
R5605:Lcor	UTSW	19	41,571,302 (GRCm39)	missense	probably damaging	1.00
R5941:Lcor	UTSW	19	41,574,839 (GRCm39)	missense	probably damaging	1.00
R6020:Lcor	UTSW	19	41,571,986 (GRCm39)	missense	possibly damaging	0.88
R6024:Lcor	UTSW	19	41,572,396 (GRCm39)	missense	possibly damaging	0.84
R6112:Lcor	UTSW	19	41,547,520 (GRCm39)	missense	possibly damaging	0.92
R6149:Lcor	UTSW	19	41,573,641 (GRCm39)	missense	probably damaging	1.00
R6260:Lcor	UTSW	19	41,570,810 (GRCm39)	missense	possibly damaging	0.73
R6260:Lcor	UTSW	19	41,570,809 (GRCm39)	missense	probably null	0.91
R6476:Lcor	UTSW	19	41,571,518 (GRCm39)	missense	probably benign	0.04
R7051:Lcor	UTSW	19	41,574,191 (GRCm39)	missense	probably benign	0.05
R7285:Lcor	UTSW	19	41,572,754 (GRCm39)	missense	possibly damaging	0.91
R7372:Lcor	UTSW	19	41,573,945 (GRCm39)	missense	probably damaging	1.00
R7762:Lcor	UTSW	19	41,572,106 (GRCm39)	missense	probably benign	0.02
R7777:Lcor	UTSW	19	41,547,234 (GRCm39)	missense	probably benign	0.33
R7833:Lcor	UTSW	19	41,573,024 (GRCm39)	missense	probably benign	0.02
R7926:Lcor	UTSW	19	41,571,008 (GRCm39)	missense	probably benign
R8164:Lcor	UTSW	19	41,573,849 (GRCm39)	missense	probably damaging	1.00
R8319:Lcor	UTSW	19	41,571,343 (GRCm39)	missense	probably damaging	1.00
R8323:Lcor	UTSW	19	41,572,036 (GRCm39)	missense	probably benign	0.01
R8327:Lcor	UTSW	19	41,570,996 (GRCm39)	missense	probably damaging	1.00
R8423:Lcor	UTSW	19	41,573,888 (GRCm39)	missense	possibly damaging	0.95
R8556:Lcor	UTSW	19	41,546,863 (GRCm39)	frame shift	probably null
R8780:Lcor	UTSW	19	41,573,698 (GRCm39)	missense	probably damaging	1.00
R8781:Lcor	UTSW	19	41,573,698 (GRCm39)	missense	probably damaging	1.00
R8788:Lcor	UTSW	19	41,573,698 (GRCm39)	missense	probably damaging	1.00
R8798:Lcor	UTSW	19	41,573,698 (GRCm39)	missense	probably damaging	1.00
R9013:Lcor	UTSW	19	41,573,189 (GRCm39)	missense	probably damaging	1.00
R9035:Lcor	UTSW	19	41,573,399 (GRCm39)	missense	probably benign	0.00
R9065:Lcor	UTSW	19	41,573,698 (GRCm39)	missense	probably damaging	1.00
R9067:Lcor	UTSW	19	41,573,698 (GRCm39)	missense	probably damaging	1.00
R9083:Lcor	UTSW	19	41,574,839 (GRCm39)	missense	probably damaging	0.99
R9105:Lcor	UTSW	19	41,573,311 (GRCm39)	missense	possibly damaging	0.88
R9487:Lcor	UTSW	19	41,573,685 (GRCm39)	missense	probably damaging	1.00
R9573:Lcor	UTSW	19	41,573,471 (GRCm39)	missense	probably damaging	1.00
R9704:Lcor	UTSW	19	41,572,498 (GRCm39)	missense	possibly damaging	0.61
X0013:Lcor	UTSW	19	41,572,971 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

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

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

Posted On

2015-04-17