Incidental Mutation 'IGL02100:Lcor'
ID 279709
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 # IGL02100
Quality Score
Status
Chromosome 19
Chromosomal Location 41482645-41562246 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41558754 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 259 (R259Q)
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: R259Q

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000067603
Gene: ENSMUSG00000025019
AA Change: R259Q

DomainStartEndE-ValueType
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: R259Q

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126441
Gene: ENSMUSG00000025019
AA Change: R259Q

DomainStartEndE-ValueType
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A T 3: 36,081,880 Q347L probably null Het
Acvr2a T C 2: 48,898,618 probably benign Het
Ankrd28 T C 14: 31,727,625 probably benign Het
Atp6v1b1 A G 6: 83,758,444 Y498C probably damaging Het
Cdh3 G A 8: 106,543,690 V400I probably benign Het
Chrnb1 G T 11: 69,793,455 probably benign Het
Col1a2 A G 6: 4,524,177 probably benign Het
Cyp2j7 A G 4: 96,236,556 L35P probably damaging Het
Dennd2c G A 3: 103,153,675 S561N probably damaging Het
Dennd4a A T 9: 64,909,706 probably benign Het
Dynll1 A C 5: 115,298,793 V58G probably damaging Het
Eif3a A T 19: 60,767,004 probably benign Het
Ercc6 T C 14: 32,517,095 S47P probably benign Het
Fam76b A G 9: 13,844,120 probably benign Het
Gbp4 T A 5: 105,122,075 probably benign Het
Gdi2 T C 13: 3,556,373 F140L probably benign Het
Gm28043 T C 17: 29,691,426 probably null Het
Gm5117 T A 8: 31,737,384 noncoding transcript Het
Gstm6 G T 3: 107,942,337 N85K probably benign Het
Hip1r C T 5: 123,998,943 probably benign Het
Igf1r T C 7: 68,189,958 I671T probably benign Het
Insrr T G 3: 87,811,620 F961C probably damaging Het
Kbtbd8 T C 6: 95,122,682 Y314H probably damaging Het
Kif26b C A 1: 178,915,947 L756I probably damaging Het
Mad1l1 T A 5: 140,143,934 S449C probably damaging Het
Map1a T G 2: 121,302,846 L1381R probably damaging Het
Mdn1 G T 4: 32,715,708 V1992L possibly damaging Het
Pigp G A 16: 94,364,767 Q99* probably null Het
Rgs8 A T 1: 153,692,723 probably null Het
Rnf170 T A 8: 26,123,984 L36H probably damaging Het
Rpap1 T C 2: 119,769,326 S1004G probably benign Het
Rpl10a-ps2 T C 13: 8,940,743 probably benign Het
Ryr2 T A 13: 11,737,873 E1854V possibly damaging Het
Scn7a T G 2: 66,675,499 *1682S probably null Het
Sema3d A G 5: 12,584,991 T675A probably benign Het
Slc1a2 T C 2: 102,756,089 F346S probably damaging Het
St14 G T 9: 31,100,130 probably benign Het
Stard5 T C 7: 83,640,445 V173A possibly damaging Het
Taf1b A G 12: 24,544,395 Y309C possibly damaging Het
Tet1 T C 10: 62,812,728 N1975S possibly damaging Het
Them5 T A 3: 94,344,475 I131N probably damaging Het
Tmem55a T C 4: 14,893,536 I133T probably benign Het
Tnc A C 4: 64,000,161 V1171G possibly damaging Het
Ttc12 C A 9: 49,440,182 G672W probably damaging Het
Usp8 T C 2: 126,737,854 probably benign Het
Utp4 A G 8: 106,898,175 N92S probably benign Het
Was A T X: 8,090,315 F38L possibly damaging Het
Wdr78 A G 4: 103,050,149 C647R probably damaging Het
Other mutations in Lcor
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Lcor APN 19 41552700 missense probably damaging 0.97
IGL02079:Lcor APN 19 41555687 missense probably benign 0.40
IGL02444:Lcor APN 19 41559011 missense probably damaging 0.99
IGL02578:Lcor APN 19 41559150 missense probably damaging 1.00
IGL03072:Lcor APN 19 41558814 missense possibly damaging 0.85
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 2015-04-16