Mutagenetix > Incidental Mutation

Incidental Mutation 'R5321:Lcor'

406129

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

042904-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.560) question?

Stock #

R5321 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41471076-41574975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 41573643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Cysteine at position 799 (W799C)

Ref Sequence

ENSEMBL: ENSMUSP00000128083 (fasta)

Gene Model

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

AlphaFold

Q6ZPI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000172371
AA Change: W799C

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

SMART Domains

Protein: ENSMUSP00000128083
Gene: ENSMUSG00000090673
AA Change: W799C

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: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,218,651 (GRCm39)	F72L	probably benign	Het
Btrc	G	A	19: 45,496,197 (GRCm39)	V211M	probably damaging	Het
Col6a5	A	T	9: 105,805,664 (GRCm39)	Y1081N	unknown	Het
Cryzl1	T	C	16: 91,504,118 (GRCm39)	Y109C	probably benign	Het
Dlec1	T	A	9: 118,941,669 (GRCm39)	S352T	probably benign	Het
Dzip3	T	G	16: 48,778,038 (GRCm39)	T349P	possibly damaging	Het
Endou	A	G	15: 97,618,913 (GRCm39)	V37A	probably damaging	Het
Exosc1	A	T	19: 41,912,499 (GRCm39)	C129*	probably null	Het
Flywch1	C	G	17: 23,975,625 (GRCm39)	R539P	probably damaging	Het
Gm14410	G	A	2: 176,885,298 (GRCm39)	T322I	probably damaging	Het
Lpin2	G	A	17: 71,553,853 (GRCm39)	V857M	probably damaging	Het
Or52ae9	T	C	7: 103,389,862 (GRCm39)	N195S	probably damaging	Het
Patl1	A	G	19: 11,898,785 (GRCm39)	Q160R	probably damaging	Het
Phtf1	C	T	3: 103,910,827 (GRCm39)	T606I	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Scrt1	T	C	15: 76,403,370 (GRCm39)	S207G	unknown	Het
Slc15a5	G	T	6: 137,964,436 (GRCm39)	N496K	probably benign	Het
Slc34a1	A	T	13: 23,996,614 (GRCm39)	I40F	possibly damaging	Het
Tdrd12	A	C	7: 35,177,519 (GRCm39)	V945G	probably damaging	Het
Tdrkh	C	A	3: 94,332,965 (GRCm39)	L169I	probably damaging	Het
Tmem59l	A	G	8: 70,939,865 (GRCm39)	C35R	probably damaging	Het
Tpte	A	T	8: 22,787,219 (GRCm39)	R33*	probably null	Het
Trpv2	T	A	11: 62,475,397 (GRCm39)	L270H	probably damaging	Het
Utp18	A	G	11: 93,757,260 (GRCm39)	L468P	probably damaging	Het
Uxs1	A	G	1: 43,844,805 (GRCm39)	I51T	probably damaging	Het
Vmn1r20	C	T	6: 57,409,427 (GRCm39)	S251L	probably benign	Het
Vmn1r24	A	T	6: 57,933,182 (GRCm39)	L112*	probably null	Het
Vmn1r5	T	C	6: 56,962,592 (GRCm39)	L89P	probably damaging	Het
Vmn2r10	G	T	5: 109,143,505 (GRCm39)	A815E	probably damaging	Het
Zfp119a	A	T	17: 56,172,595 (GRCm39)	L416H	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
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'- GGCCTAAGAGACTGCCTTCTTC -3'
(R):5'- GAAAACTTTTGCACCTCCAACG -3'

Sequencing Primer
(F):5'- TCTTCTACCTACAACCTGAGACATG -3'
(R):5'- GACCCCCTACACTTCCGTG -3'

Posted On

2016-07-22