Mutagenetix > Incidental Mutation

Incidental Mutation 'R1278:Lcor'

150964

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

039344-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.560) question?

Stock #

R1278 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41471076-41574975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41573122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 626 (T626A)

Ref Sequence

ENSEMBL: ENSMUSP00000128083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172371]

AlphaFold

Q6ZPI3

Predicted Effect

probably benign
Transcript: ENSMUST00000172371
AA Change: T626A

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000128083
Gene: ENSMUSG00000090673
AA Change: T626A

Domain	Start	End	E-Value	Type
low complexity region	10	17	N/A	INTRINSIC
low complexity region	438	450	N/A	INTRINSIC
low complexity region	710	724	N/A	INTRINSIC
low complexity region	768	779	N/A	INTRINSIC
Pfam:DUF4553	787	1241	9.7e-179	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183602

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.8%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,535,470 (GRCm39)	S747P	probably damaging	Het
Adgb	A	G	10: 10,258,572 (GRCm39)	Y1063H	probably damaging	Het
Cacna1d	A	G	14: 29,900,660 (GRCm39)	S320P	probably damaging	Het
Ccdc171	C	T	4: 83,580,095 (GRCm39)	A622V	possibly damaging	Het
Cul9	TTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTC	17: 46,811,775 (GRCm39)		probably benign	Het
Dmxl1	T	C	18: 50,026,292 (GRCm39)	V1800A	probably benign	Het
Dock5	T	C	14: 68,077,015 (GRCm39)	N276S	possibly damaging	Het
Fat2	T	C	11: 55,159,005 (GRCm39)	E3389G	probably damaging	Het
Gnb4	T	C	3: 32,641,886 (GRCm39)	D247G	probably damaging	Het
Kif20a	C	T	18: 34,759,830 (GRCm39)	T75I	probably benign	Het
Lix1	A	G	17: 17,647,469 (GRCm39)	K45R	probably benign	Het
Ly6g6d	T	A	17: 35,290,636 (GRCm39)	Q98L	probably benign	Het
Mark4	T	A	7: 19,165,695 (GRCm39)	S533C	probably damaging	Het
Myo1e	T	A	9: 70,306,067 (GRCm39)	V1104D	probably damaging	Het
Naip6	T	C	13: 100,436,870 (GRCm39)	D551G	probably damaging	Het
Or5k14	G	T	16: 58,693,340 (GRCm39)	P58T	probably damaging	Het
Pla2g4e	A	G	2: 119,998,951 (GRCm39)		probably null	Het
Ror1	T	C	4: 100,299,075 (GRCm39)	F816S	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Secisbp2	G	T	13: 51,808,546 (GRCm39)	V104F	probably damaging	Het
Trpa1	A	G	1: 14,988,947 (GRCm39)		probably null	Het
Trpm7	A	T	2: 126,667,374 (GRCm39)	Y846*	probably null	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
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
R3886: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'- GACCAGTGATTGACAGCATCCATCC -3'
(R):5'- AGCGAGGCCAGCATCATCTTTATG -3'

Sequencing Primer
(F):5'- CAGACAATCTGGAAGACCCTG -3'
(R):5'- AGGGTCTACCTCACTCATAGCG -3'

Posted On

2014-01-29