Incidental Mutation 'IGL00737:Lcor'
ID 11736
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 # IGL00737
Quality Score
Status
Chromosome 19
Chromosomal Location 41482645-41562246 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41552700 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 68 (T68A)
Ref Sequence ENSEMBL: ENSMUSP00000126441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067795] [ENSMUST00000163929]
AlphaFold Q6ZPI3
Predicted Effect probably damaging
Transcript: ENSMUST00000067795
AA Change: T68A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000067603
Gene: ENSMUSG00000025019
AA Change: T68A

DomainStartEndE-ValueType
low complexity region 36 48 N/A INTRINSIC
Pfam:HTH_psq 350 395 1.2e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163929
AA Change: T68A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126441
Gene: ENSMUSG00000025019
AA Change: T68A

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,196,997 probably benign Het
AI597479 T G 1: 43,100,858 H81Q probably benign Het
Alcam A T 16: 52,253,180 L561Q unknown Het
Cd8a T C 6: 71,373,707 V52A probably benign Het
Cpsf2 T C 12: 101,983,466 V119A probably damaging Het
Cry1 T C 10: 85,143,040 N541D probably benign Het
Dock8 A G 19: 25,182,976 T1748A probably benign Het
Kifap3 A T 1: 163,797,270 I132F probably damaging Het
Lpcat2 A G 8: 92,909,206 D372G probably damaging Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Mrpl30 G A 1: 37,895,376 R33H probably benign Het
Ncstn A G 1: 172,074,401 Y151H probably benign Het
Parp4 A G 14: 56,584,163 T2A probably damaging Het
Plxna2 G A 1: 194,746,239 probably benign Het
Pum2 A G 12: 8,733,381 Y610C probably damaging Het
Rabl6 T C 2: 25,584,120 probably benign Het
Wdr33 T A 18: 31,878,116 W273R probably damaging Het
Wdr59 T C 8: 111,458,736 N855S probably damaging Het
Wipi2 T A 5: 142,666,870 D412E probably benign Het
Zfp28 T C 7: 6,393,430 *56Q probably null Het
Zfyve16 T A 13: 92,521,118 K762* probably null Het
Other mutations in Lcor
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-12-06