Incidental Mutation 'IGL00497:Lrr1'
ID 5985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrr1
Ensembl Gene ENSMUSG00000034883
Gene Name leucine rich repeat protein 1
Synonyms 2410005L11Rik, Ppil5, LRR-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00497
Quality Score
Status
Chromosome 12
Chromosomal Location 69215588-69225783 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69221356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 166 (H166R)
Ref Sequence ENSEMBL: ENSMUSP00000106251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110621] [ENSMUST00000222520]
AlphaFold D3YY91
Predicted Effect probably benign
Transcript: ENSMUST00000110621
AA Change: H166R

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000106251
Gene: ENSMUSG00000034883
AA Change: H166R

DomainStartEndE-ValueType
LRR 184 206 8.09e-1 SMART
LRR 207 230 4.57e0 SMART
LRR 234 255 7.17e1 SMART
LRR 256 278 1.71e2 SMART
LRR 279 301 6.05e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222382
Predicted Effect probably benign
Transcript: ENSMUST00000222520
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression of this gene suppresses the activation of NF-kappa B induced by TNFRSF9 or TNF receptor-associated factor 2 (TRAF2), which suggests that this protein is a negative regulator of TNFRSF9-mediated signaling cascades. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579G24Rik G A 3: 79,538,598 (GRCm39) probably benign Het
Aatk C T 11: 119,901,012 (GRCm39) R1128Q probably benign Het
Acot6 C T 12: 84,156,212 (GRCm39) R387C probably damaging Het
Adam11 A G 11: 102,660,973 (GRCm39) E118G probably damaging Het
Adcyap1r1 G A 6: 55,449,264 (GRCm39) V73I probably damaging Het
Apol8 T C 15: 77,634,214 (GRCm39) T121A probably damaging Het
Bltp2 A G 11: 78,163,759 (GRCm39) N1076D probably damaging Het
Ccdc91 C A 6: 147,508,485 (GRCm39) Q404K unknown Het
Cpt1b T C 15: 89,306,496 (GRCm39) K294R probably benign Het
Dnah6 A C 6: 73,172,744 (GRCm39) V238G probably damaging Het
Dscaml1 T C 9: 45,663,536 (GRCm39) S1920P probably damaging Het
Gcfc2 A T 6: 81,934,951 (GRCm39) I737L probably benign Het
Gmeb1 A G 4: 131,955,296 (GRCm39) V293A probably benign Het
Gpi-ps T C 8: 5,690,563 (GRCm39) noncoding transcript Het
Hibch A G 1: 52,924,349 (GRCm39) probably benign Het
Ifnab A G 4: 88,609,419 (GRCm39) Y16H probably benign Het
Il17rc T C 6: 113,451,132 (GRCm39) V155A probably damaging Het
Map4k5 G T 12: 69,892,506 (GRCm39) A141E probably damaging Het
Mettl17 A T 14: 52,126,292 (GRCm39) K233N probably damaging Het
Mon2 A G 10: 122,862,204 (GRCm39) L740S probably damaging Het
Mpdz A C 4: 81,253,979 (GRCm39) I1051S probably benign Het
Mroh8 A G 2: 157,058,834 (GRCm39) F944S probably damaging Het
Myh13 A G 11: 67,233,314 (GRCm39) Y611C probably damaging Het
Npat A G 9: 53,478,100 (GRCm39) N951D possibly damaging Het
Osmr T C 15: 6,876,547 (GRCm39) S126G probably benign Het
Parp14 T C 16: 35,655,206 (GRCm39) Y1755C probably damaging Het
Phf14 T C 6: 11,941,423 (GRCm39) probably benign Het
Prex2 T A 1: 11,256,876 (GRCm39) M1196K possibly damaging Het
Prkd1 A T 12: 50,430,264 (GRCm39) D614E probably damaging Het
Ptprm A G 17: 67,124,967 (GRCm39) L794P probably damaging Het
Rb1 C T 14: 73,502,038 (GRCm39) R449H probably damaging Het
Scfd1 A G 12: 51,474,652 (GRCm39) D469G probably benign Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Sgo1 A G 17: 53,984,130 (GRCm39) probably benign Het
Slc11a1 A G 1: 74,421,057 (GRCm39) probably null Het
Snw1 A G 12: 87,499,350 (GRCm39) probably null Het
Stac3 T C 10: 127,339,533 (GRCm39) I143T probably damaging Het
Tcta A T 9: 108,183,115 (GRCm39) L10Q probably damaging Het
Tha1 T C 11: 117,761,831 (GRCm39) probably benign Het
Trmt1 T C 8: 85,422,138 (GRCm39) M254T possibly damaging Het
Trps1 T A 15: 50,524,703 (GRCm39) M887L possibly damaging Het
Zfyve28 A G 5: 34,400,539 (GRCm39) V53A probably damaging Het
Other mutations in Lrr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02399:Lrr1 APN 12 69,215,665 (GRCm39) nonsense probably null
R0525:Lrr1 UTSW 12 69,215,685 (GRCm39) missense probably damaging 1.00
R1187:Lrr1 UTSW 12 69,221,796 (GRCm39) missense probably benign 0.01
R2375:Lrr1 UTSW 12 69,221,697 (GRCm39) missense probably benign 0.00
R4748:Lrr1 UTSW 12 69,221,236 (GRCm39) missense probably benign 0.29
R5283:Lrr1 UTSW 12 69,221,428 (GRCm39) missense probably damaging 1.00
R5830:Lrr1 UTSW 12 69,225,445 (GRCm39) missense possibly damaging 0.63
R6259:Lrr1 UTSW 12 69,221,589 (GRCm39) missense probably damaging 1.00
R6264:Lrr1 UTSW 12 69,215,655 (GRCm39) missense probably damaging 1.00
R6788:Lrr1 UTSW 12 69,221,449 (GRCm39) missense probably damaging 1.00
R8408:Lrr1 UTSW 12 69,215,825 (GRCm39) missense probably benign 0.01
R8431:Lrr1 UTSW 12 69,225,470 (GRCm39) missense possibly damaging 0.92
R9400:Lrr1 UTSW 12 69,221,476 (GRCm39) missense probably benign 0.23
R9663:Lrr1 UTSW 12 69,221,884 (GRCm39) missense probably damaging 0.99
Posted On 2012-04-20