Mutagenetix > Incidental Mutation

Incidental Mutation 'R8164:Lcor'

633693

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

067590-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.560) question?

Stock #

R8164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41471076-41574975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41573849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 868 (V868D)

Ref Sequence

ENSEMBL: ENSMUSP00000128083 (fasta)

Gene Model

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

AlphaFold

Q6ZPI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000172371
AA Change: V868D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128083
Gene: ENSMUSG00000090673
AA Change: V868D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (49/50)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	C	19: 3,767,454 (GRCm39)	V347A	probably benign	Het
Abca13	A	T	11: 9,565,799 (GRCm39)	I4808F	probably damaging	Het
Acaa2	C	A	18: 74,928,318 (GRCm39)	Y182*	probably null	Het
Ankrd44	A	T	1: 54,703,138 (GRCm39)	N644K	probably damaging	Het
Aurkaip1	T	A	4: 155,916,962 (GRCm39)	M70K	probably damaging	Het
Brinp1	A	T	4: 68,681,158 (GRCm39)	Y457*	probably null	Het
Brox	A	T	1: 183,062,491 (GRCm39)	C288S	possibly damaging	Het
Ccdc57	C	T	11: 120,788,788 (GRCm39)	R353H	probably benign	Het
Cdhr1	A	T	14: 36,801,499 (GRCm39)	S815T	probably damaging	Het
Cnih4	A	G	1: 180,989,691 (GRCm39)	I101M	probably damaging	Het
Ctsj	T	C	13: 61,150,334 (GRCm39)	T222A	probably benign	Het
Dab2	C	A	15: 6,460,449 (GRCm39)	D452E	possibly damaging	Het
Dnah3	A	G	7: 119,566,837 (GRCm39)	I2463T	probably damaging	Het
Dync1h1	A	G	12: 110,582,794 (GRCm39)	T326A	possibly damaging	Het
F10	A	G	8: 13,100,781 (GRCm39)	T232A	probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gcdh	A	G	8: 85,619,181 (GRCm39)	S128P	probably damaging	Het
Golph3l	G	A	3: 95,524,517 (GRCm39)	R256Q	probably benign	Het
Igkv2-109	A	G	6: 68,279,853 (GRCm39)	T25A	probably damaging	Het
Lhx9	A	T	1: 138,760,518 (GRCm39)	F286L	probably damaging	Het
Lrrtm1	A	T	6: 77,221,199 (GRCm39)	N219Y	probably damaging	Het
Mei4	A	G	9: 81,809,642 (GRCm39)	K242E	probably damaging	Het
Morc2b	T	C	17: 33,357,014 (GRCm39)	M253V	probably damaging	Het
Myh14	A	G	7: 44,274,457 (GRCm39)	V1277A	probably benign	Het
N4bp2	T	A	5: 65,966,566 (GRCm39)	W1335R	probably damaging	Het
Naip6	T	A	13: 100,452,797 (GRCm39)	H88L	probably benign	Het
Niban1	G	A	1: 151,593,339 (GRCm39)	V675M	probably benign	Het
Nlrp1b	A	T	11: 71,119,243 (GRCm39)	H17Q	possibly damaging	Het
Or1p1b	A	T	11: 74,130,786 (GRCm39)	Y132F	probably damaging	Het
P2ry12	C	T	3: 59,125,037 (GRCm39)	V213I	possibly damaging	Het
Pcdhb21	C	A	18: 37,649,057 (GRCm39)	P729T	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf39	C	G	17: 37,254,292 (GRCm39)	R105G	probably damaging	Het
Sbk1	G	A	7: 125,891,711 (GRCm39)	V382M	possibly damaging	Het
Sbno1	T	C	5: 124,512,684 (GRCm39)	T1362A	probably benign	Het
Slc2a13	A	G	15: 91,160,281 (GRCm39)	Y558H	probably damaging	Het
Tardbp	A	T	4: 148,703,060 (GRCm39)	N301K	probably benign	Het
Tet2	G	T	3: 133,172,895 (GRCm39)	T1789N	possibly damaging	Het
Tln2	G	A	9: 67,226,702 (GRCm39)	A1261V	probably benign	Het
Tmem131l	A	T	3: 83,833,495 (GRCm39)	Y789*	probably null	Het
Tmprss11c	T	A	5: 86,379,712 (GRCm39)	I399F	probably damaging	Het
Tnfrsf25	C	T	4: 152,201,877 (GRCm39)	T118I	possibly damaging	Het
Trpc4	A	T	3: 54,223,226 (GRCm39)	M721L	probably benign	Het
Vav3	A	G	3: 109,248,368 (GRCm39)	K5R	probably benign	Het
Wdr24	C	A	17: 26,044,923 (GRCm39)		probably null	Het
Zc3hc1	A	T	6: 30,390,895 (GRCm39)	I36K	probably damaging	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
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
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'- GCCCAAGTTCATAGGATGGTG -3'
(R):5'- TGCCTGTAGTGAACTAGGGTAC -3'

Sequencing Primer
(F):5'- CTGATCGCCAGCTTCAACG -3'
(R):5'- CCTGTAGTGAACTAGGGTACATGGTG -3'

Posted On

2020-07-13