Incidental Mutation 'IGL02444:Lcor'
ID 293519
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 # IGL02444
Quality Score
Status
Chromosome 19
Chromosomal Location 41482645-41562246 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 41559011 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 345 (R345C)
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: R345C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067603
Gene: ENSMUSG00000025019
AA Change: R345C

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: R345C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126441
Gene: ENSMUSG00000025019
AA Change: R345C

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A G 8: 43,569,673 I260T possibly damaging Het
Arhgap9 T A 10: 127,327,947 V484D probably damaging Het
Asph A G 4: 9,542,319 probably benign Het
Bbs9 T C 9: 22,643,787 S457P probably damaging Het
Bckdk A G 7: 127,907,446 T38A probably damaging Het
Cast G A 13: 74,739,853 T240I probably damaging Het
Cdc27 T C 11: 104,522,716 probably benign Het
Cdon T C 9: 35,473,448 S677P probably benign Het
Cfap161 T C 7: 83,776,145 E246G probably damaging Het
Dnah11 G A 12: 117,975,873 probably benign Het
Dnm3 C T 1: 162,010,875 V835I possibly damaging Het
Eif3a T C 19: 60,773,607 H510R possibly damaging Het
Fbxw2 G T 2: 34,805,781 T367K probably benign Het
Ghsr T C 3: 27,372,040 S82P probably benign Het
Gm4353 C T 7: 116,083,444 V301I probably benign Het
Golgb1 T C 16: 36,907,816 probably benign Het
Gria2 T A 3: 80,702,553 M650L possibly damaging Het
Herc4 T C 10: 63,306,433 V671A probably benign Het
Iqcb1 T A 16: 36,831,911 Y61* probably null Het
Irs2 C T 8: 11,006,306 G709S probably benign Het
Itpripl1 T G 2: 127,141,701 H167P possibly damaging Het
Kcnn3 T C 3: 89,652,052 V543A possibly damaging Het
Klf10 T A 15: 38,297,824 K43M probably damaging Het
Lmntd2 A G 7: 141,211,919 S304P probably damaging Het
Lpar3 T C 3: 146,241,194 I209T probably damaging Het
Map3k13 T A 16: 21,914,232 M528K probably benign Het
Me1 A T 9: 86,582,914 probably benign Het
Nedd4l T G 18: 65,203,957 probably benign Het
Oas1d T A 5: 120,920,008 F338L probably benign Het
Olfr15 T C 16: 3,839,687 F238S probably damaging Het
Olfr362 G T 2: 37,104,774 P292Q probably damaging Het
Pcdhb5 T C 18: 37,321,050 V161A probably benign Het
Prdx3 A T 19: 60,871,461 F91L possibly damaging Het
Rab25 T C 3: 88,542,713 T114A probably benign Het
Rasal2 T C 1: 157,299,195 E73G probably benign Het
Slco4c1 A G 1: 96,844,509 S252P probably damaging Het
Srgap2 A C 1: 131,325,153 probably null Het
Synpo A G 18: 60,602,430 S576P probably damaging Het
Tktl2 G T 8: 66,513,361 A524S possibly damaging Het
Tln2 A T 9: 67,258,592 probably benign Het
Tmem52 G A 4: 155,470,393 D158N probably damaging Het
Tyw3 T A 3: 154,596,989 Q36L probably damaging Het
Usp10 A T 8: 119,948,693 I483F possibly damaging Het
Usp31 A G 7: 121,679,495 Y216H probably damaging Het
Vmn1r181 T C 7: 23,984,523 S138P probably damaging Het
Vmn2r42 G T 7: 8,184,313 A770E probably damaging Het
Zfp292 A C 4: 34,808,810 S1411R possibly 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
IGL02100:Lcor APN 19 41558754 missense possibly damaging 0.93
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