Incidental Mutation 'R2171:Lcorl'
ID 237474
Institutional Source Beutler Lab
Gene Symbol Lcorl
Ensembl Gene ENSMUSG00000015882
Gene Name ligand dependent nuclear receptor corepressor-like
Synonyms A830039H10Rik, Mlr1
MMRRC Submission 040173-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # R2171 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 45854523-46014957 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45904493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 112 (I112N)
Ref Sequence ENSEMBL: ENSMUSP00000112416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016026] [ENSMUST00000045586] [ENSMUST00000087164] [ENSMUST00000121573] [ENSMUST00000189859] [ENSMUST00000190036]
AlphaFold Q3U285
Predicted Effect probably benign
Transcript: ENSMUST00000016026
AA Change: I195N

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000016026
Gene: ENSMUSG00000015882
AA Change: I195N

DomainStartEndE-ValueType
low complexity region 234 253 N/A INTRINSIC
Pfam:HTH_psq 276 313 5.1e-9 PFAM
Pfam:HTH_psq 525 570 1.9e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045586
AA Change: I195N

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000042677
Gene: ENSMUSG00000015882
AA Change: I195N

DomainStartEndE-ValueType
low complexity region 234 253 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000087164
AA Change: I112N

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000084408
Gene: ENSMUSG00000015882
AA Change: I112N

DomainStartEndE-ValueType
low complexity region 151 170 N/A INTRINSIC
Pfam:HTH_psq 193 230 3.4e-7 PFAM
Pfam:HTH_psq 442 487 9.4e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121573
AA Change: I112N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112416
Gene: ENSMUSG00000015882
AA Change: I112N

DomainStartEndE-ValueType
low complexity region 151 170 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187615
Predicted Effect probably benign
Transcript: ENSMUST00000189859
SMART Domains Protein: ENSMUSP00000139996
Gene: ENSMUSG00000015882

DomainStartEndE-ValueType
Blast:ZnF_C2H2 16 38 1e-5 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000190036
AA Change: I185N

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that appears to function in spermatogenesis. Polymorphisms in this gene are associated with measures of skeletal frame size and adult height. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 A G 13: 23,606,387 (GRCm39) L189P probably damaging Het
Adgrl3 C A 5: 81,660,362 (GRCm39) S377* probably null Het
Adgrv1 A G 13: 81,419,037 (GRCm39) V5986A probably damaging Het
Arv1 T G 8: 125,455,094 (GRCm39) C102W probably damaging Het
Asb18 T C 1: 89,896,419 (GRCm39) H207R probably benign Het
Bach2 T C 4: 32,501,662 (GRCm39) V13A probably damaging Het
Bccip T C 7: 133,320,843 (GRCm39) S206P probably benign Het
Cdhr4 T C 9: 107,870,117 (GRCm39) S41P probably benign Het
Chd7 A G 4: 8,752,424 (GRCm39) Y307C probably damaging Het
Clec4f A T 6: 83,629,846 (GRCm39) S237R possibly damaging Het
Cntnap5a A G 1: 116,116,132 (GRCm39) D538G possibly damaging Het
Col9a2 T A 4: 120,902,198 (GRCm39) C173* probably null Het
Ctr9 T A 7: 110,646,117 (GRCm39) M703K possibly damaging Het
Cyp2a12 A G 7: 26,729,057 (GRCm39) Y83C probably damaging Het
Eef1akmt3 A C 10: 126,868,843 (GRCm39) D210E probably benign Het
Erbin A G 13: 103,971,466 (GRCm39) F717L probably benign Het
Gtf3a A G 5: 146,892,272 (GRCm39) N341S probably benign Het
Hltf T C 3: 20,113,245 (GRCm39) V6A probably damaging Het
Itga6 T A 2: 71,650,358 (GRCm39) Y135N probably damaging Het
Krt73 T C 15: 101,709,345 (GRCm39) Q154R possibly damaging Het
Lce1a1 C T 3: 92,554,048 (GRCm39) C142Y unknown Het
Ltbp1 C T 17: 75,598,312 (GRCm39) H916Y probably damaging Het
Lypla2 T C 4: 135,697,915 (GRCm39) probably null Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mmp1a T A 9: 7,475,357 (GRCm39) D375E probably damaging Het
Nlrp14 T G 7: 106,781,709 (GRCm39) L302R probably damaging Het
Npy2r T G 3: 82,447,708 (GRCm39) T243P possibly damaging Het
Or11h4 A T 14: 50,973,876 (GRCm39) S248T probably benign Het
Or51k2 T C 7: 103,595,992 (GRCm39) V73A probably damaging Het
Paqr9 A T 9: 95,442,931 (GRCm39) H307L probably damaging Het
Phc3 T C 3: 31,005,078 (GRCm39) T172A probably damaging Het
Pigs A G 11: 78,219,638 (GRCm39) T39A probably damaging Het
Pik3c2g C T 6: 139,801,012 (GRCm39) Q386* probably null Het
Pira2 T C 7: 3,847,417 (GRCm39) S91G probably benign Het
Plxna2 T A 1: 194,482,925 (GRCm39) N1539K probably damaging Het
Poc5 C T 13: 96,547,257 (GRCm39) H507Y probably damaging Het
Pou2f1 A T 1: 165,707,925 (GRCm39) probably benign Het
Pthlh T G 6: 147,158,694 (GRCm39) K89Q probably damaging Het
Rims4 A T 2: 163,706,046 (GRCm39) probably null Het
Rnf138 A G 18: 21,159,143 (GRCm39) N188D probably damaging Het
Rreb1 A G 13: 38,114,822 (GRCm39) D727G probably benign Het
Sc5d T G 9: 42,166,682 (GRCm39) K286Q probably benign Het
Slc10a5 C T 3: 10,400,342 (GRCm39) G106D possibly damaging Het
Smg6 A T 11: 74,929,472 (GRCm39) Q967L probably damaging Het
Spty2d1 C T 7: 46,644,361 (GRCm39) R636H probably damaging Het
Srms A T 2: 180,850,573 (GRCm39) Y195* probably null Het
Susd4 A G 1: 182,719,759 (GRCm39) D458G probably benign Het
Tecta T C 9: 42,270,220 (GRCm39) R1363G probably damaging Het
Thbs1 G A 2: 117,953,060 (GRCm39) G890D probably damaging Het
Tpp2 T C 1: 43,996,606 (GRCm39) V317A probably benign Het
Ttpa T C 4: 20,021,357 (GRCm39) V175A probably damaging Het
Vps13b G T 15: 35,887,343 (GRCm39) D3251Y probably benign Het
Vps54 A G 11: 21,248,810 (GRCm39) D441G probably benign Het
Zfp738 A T 13: 67,819,096 (GRCm39) Y298* probably null Het
Zfp804a G A 2: 82,087,527 (GRCm39) C452Y possibly damaging Het
Zxdc A G 6: 90,359,461 (GRCm39) K698E possibly damaging Het
Other mutations in Lcorl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Lcorl APN 5 45,904,637 (GRCm39) missense probably damaging 1.00
IGL01611:Lcorl APN 5 45,904,434 (GRCm39) missense probably damaging 1.00
IGL03014:Lcorl UTSW 5 45,931,371 (GRCm39) intron probably benign
R0070:Lcorl UTSW 5 45,891,043 (GRCm39) missense probably damaging 1.00
R0070:Lcorl UTSW 5 45,891,043 (GRCm39) missense probably damaging 1.00
R0499:Lcorl UTSW 5 45,891,711 (GRCm39) missense probably benign 0.00
R1518:Lcorl UTSW 5 45,891,543 (GRCm39) missense possibly damaging 0.94
R1817:Lcorl UTSW 5 45,952,688 (GRCm39) missense probably damaging 1.00
R1977:Lcorl UTSW 5 45,932,762 (GRCm39) missense probably null 0.16
R3737:Lcorl UTSW 5 45,891,383 (GRCm39) missense possibly damaging 0.95
R3738:Lcorl UTSW 5 45,891,383 (GRCm39) missense possibly damaging 0.95
R3739:Lcorl UTSW 5 45,891,383 (GRCm39) missense possibly damaging 0.95
R3825:Lcorl UTSW 5 45,932,729 (GRCm39) splice site probably benign
R4035:Lcorl UTSW 5 45,891,383 (GRCm39) missense possibly damaging 0.95
R4199:Lcorl UTSW 5 45,891,130 (GRCm39) missense possibly damaging 0.83
R4583:Lcorl UTSW 5 45,890,931 (GRCm39) nonsense probably null
R4647:Lcorl UTSW 5 45,890,931 (GRCm39) nonsense probably null
R4803:Lcorl UTSW 5 45,904,623 (GRCm39) unclassified probably null
R5524:Lcorl UTSW 5 45,932,865 (GRCm39) critical splice acceptor site probably null
R5524:Lcorl UTSW 5 45,932,864 (GRCm39) critical splice acceptor site probably null
R5526:Lcorl UTSW 5 45,891,069 (GRCm39) missense probably benign
R5533:Lcorl UTSW 5 45,891,219 (GRCm39) missense possibly damaging 0.47
R5772:Lcorl UTSW 5 45,952,709 (GRCm39) splice site probably null
R5927:Lcorl UTSW 5 45,882,766 (GRCm39) intron probably benign
R6175:Lcorl UTSW 5 45,933,832 (GRCm39) missense probably damaging 1.00
R6734:Lcorl UTSW 5 45,890,839 (GRCm39) missense probably damaging 0.98
R6864:Lcorl UTSW 5 45,904,546 (GRCm39) missense probably damaging 1.00
R7078:Lcorl UTSW 5 45,904,566 (GRCm39) missense probably damaging 1.00
R7396:Lcorl UTSW 5 46,014,801 (GRCm39) splice site probably null
R7624:Lcorl UTSW 5 45,859,307 (GRCm39) missense probably benign
R9008:Lcorl UTSW 5 45,931,516 (GRCm39) intron probably benign
R9354:Lcorl UTSW 5 45,890,968 (GRCm39) nonsense probably null
R9497:Lcorl UTSW 5 45,891,339 (GRCm39) missense probably benign
X0023:Lcorl UTSW 5 45,891,354 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCTCAATGAGATTCTTACTGTGTACTC -3'
(R):5'- ACTGTGAACTGCCACTAGATTC -3'

Sequencing Primer
(F):5'- GGCATGCACTGTTTTCCCAGAG -3'
(R):5'- ATTTCTCTGTAAAACCCCCAGG -3'
Posted On 2014-10-02