Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03072:Lcor'

417549

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lcor

Ensembl Gene

ENSMUSG00000025019

Gene Name

ligand dependent nuclear receptor corepressor

Synonyms

A630025C20Rik, Mlr2, 3110023F06Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.849) question?

Stock #

IGL03072

Quality Score

Status

Chromosome

Chromosomal Location

41482645-41562246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41558814 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 279 (V279A)

Ref Sequence

ENSEMBL: ENSMUSP00000126441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067795] [ENSMUST00000163929]

AlphaFold

Q6ZPI3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067795
AA Change: V279A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067603
Gene: ENSMUSG00000025019
AA Change: V279A

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

possibly damaging
Transcript: ENSMUST00000163929
AA Change: V279A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126441
Gene: ENSMUSG00000025019
AA Change: V279A

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
Pfam:HTH_psq	350	395	5.1e-18	PFAM

Coding Region Coverage

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	A	13: 77,259,997	V148I	probably benign	Het
Ahcyl2	T	C	6: 29,906,501		probably benign	Het
Ahnak	T	C	19: 9,006,508	S1719P	probably benign	Het
C2cd5	A	G	6: 143,079,883	I196T	possibly damaging	Het
Cdhr2	A	G	13: 54,726,661	I849V	probably benign	Het
Cpsf3	A	G	12: 21,295,088	K134E	possibly damaging	Het
Dnaic1	A	G	4: 41,602,979	T161A	probably benign	Het
Gm17093	G	T	14: 44,520,672		probably benign	Het
Igf2bp2	A	G	16: 22,068,141		probably null	Het
Myo9a	C	A	9: 59,809,442	T475K	possibly damaging	Het
Nat8f4	A	G	6: 85,900,854		probably benign	Het
Neto1	A	G	18: 86,498,589	T344A	probably benign	Het
Olfr1048	A	T	2: 86,236,460	M118K	probably damaging	Het
Olfr371	A	G	8: 85,230,510	N5S	probably benign	Het
Olfr772	A	T	10: 129,174,489	D177E	probably damaging	Het
Pde8a	A	T	7: 81,308,809	I312F	probably damaging	Het
Ppp3cb	A	G	14: 20,531,725	I74T	probably damaging	Het
Prom1	T	C	5: 44,058,662		probably benign	Het
Psg29	T	C	7: 17,208,794	V240A	probably benign	Het
Reep4	T	C	14: 70,548,235	S238P	probably damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tmprss5	T	A	9: 49,109,018	N99K	possibly damaging	Het
Tph1	G	A	7: 46,652,859	T313M	probably damaging	Het
Tprn	T	C	2: 25,264,518	S611P	probably damaging	Het
Upp2	G	T	2: 58,755,423		probably null	Het
Vezt	C	A	10: 93,974,033	A549S	probably damaging	Het
Zfp786	A	G	6: 47,821,243	Y254H	probably benign	Het

Other mutations in Lcor

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Lcor	APN	19	41552700	missense	probably damaging	0.97
IGL02079:Lcor	APN	19	41555687	missense	probably benign	0.40
IGL02100:Lcor	APN	19	41558754	missense	possibly damaging	0.93
IGL02444:Lcor	APN	19	41559011	missense	probably damaging	0.99
IGL02578:Lcor	APN	19	41559150	missense	probably damaging	1.00
IGL03118:Lcor	APN	19	41558369	missense	probably damaging	0.99
IGL03153:Lcor	APN	19	41558356	missense	probably damaging	0.98
R1756:Lcor	UTSW	19	41559266	missense	probably benign
R1889:Lcor	UTSW	19	41559128	missense	probably damaging	0.99
R1913:Lcor	UTSW	19	41558474	missense	probably benign	0.40
R1983:Lcor	UTSW	19	41558367	missense	probably damaging	0.98
R3885:Lcor	UTSW	19	41558356	missense	probably damaging	0.98
R3886:Lcor	UTSW	19	41558356	missense	probably damaging	0.98
R3888:Lcor	UTSW	19	41558356	missense	probably damaging	0.98
R3889:Lcor	UTSW	19	41558356	missense	probably damaging	0.98
R5160:Lcor	UTSW	19	41555614	missense	probably damaging	0.99
R6112:Lcor	UTSW	19	41559081	missense	possibly damaging	0.92
R7777:Lcor	UTSW	19	41558795	missense	probably benign	0.33
R8556:Lcor	UTSW	19	41558424	frame shift	probably null

Posted On

2016-08-02