Incidental Mutation 'IGL00497:Lrr1'
ID5985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrr1
Ensembl Gene ENSMUSG00000034883
Gene Nameleucine rich repeat protein 1
SynonymsLRR-1, Ppil5, 2410005L11Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00497
Quality Score
Status
Chromosome12
Chromosomal Location69168814-69179009 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 69174582 bp
ZygosityHeterozygous
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]
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
2610507B11Rik A G 11: 78,272,933 N1076D probably damaging Het
4930579G24Rik G A 3: 79,631,291 probably benign Het
Aatk C T 11: 120,010,186 R1128Q probably benign Het
Acot6 C T 12: 84,109,438 R387C probably damaging Het
Adam11 A G 11: 102,770,147 E118G probably damaging Het
Adcyap1r1 G A 6: 55,472,279 V73I probably damaging Het
Apol8 T C 15: 77,750,014 T121A probably damaging Het
Ccdc91 C A 6: 147,606,987 Q404K unknown Het
Cpt1b T C 15: 89,422,293 K294R probably benign Het
Dnah6 A C 6: 73,195,761 V238G probably damaging Het
Dscaml1 T C 9: 45,752,238 S1920P probably damaging Het
Gcfc2 A T 6: 81,957,970 I737L probably benign Het
Gm1840 T C 8: 5,640,563 noncoding transcript Het
Gmeb1 A G 4: 132,227,985 V293A probably benign Het
Hibch A G 1: 52,885,190 probably benign Het
Ifnab A G 4: 88,691,182 Y16H probably benign Het
Il17rc T C 6: 113,474,171 V155A probably damaging Het
Map4k5 G T 12: 69,845,732 A141E probably damaging Het
Mettl17 A T 14: 51,888,835 K233N probably damaging Het
Mon2 A G 10: 123,026,299 L740S probably damaging Het
Mpdz A C 4: 81,335,742 I1051S probably benign Het
Mroh8 A G 2: 157,216,914 F944S probably damaging Het
Myh13 A G 11: 67,342,488 Y611C probably damaging Het
Npat A G 9: 53,566,800 N951D possibly damaging Het
Osmr T C 15: 6,847,066 S126G probably benign Het
Parp14 T C 16: 35,834,836 Y1755C probably damaging Het
Phf14 T C 6: 11,941,424 probably benign Het
Prex2 T A 1: 11,186,652 M1196K possibly damaging Het
Prkd1 A T 12: 50,383,481 D614E probably damaging Het
Ptprm A G 17: 66,817,972 L794P probably damaging Het
Rb1 C T 14: 73,264,598 R449H probably damaging Het
Scfd1 A G 12: 51,427,869 D469G probably benign Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Sgo1 A G 17: 53,677,102 probably benign Het
Slc11a1 A G 1: 74,381,898 probably null Het
Snw1 A G 12: 87,452,580 probably null Het
Stac3 T C 10: 127,503,664 I143T probably damaging Het
Tcta A T 9: 108,305,916 L10Q probably damaging Het
Tha1 T C 11: 117,871,005 probably benign Het
Trmt1 T C 8: 84,695,509 M254T possibly damaging Het
Trps1 T A 15: 50,661,307 M887L possibly damaging Het
Zfyve28 A G 5: 34,243,195 V53A probably damaging Het
Other mutations in Lrr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02399:Lrr1 APN 12 69168891 nonsense probably null
R0525:Lrr1 UTSW 12 69168911 missense probably damaging 1.00
R1187:Lrr1 UTSW 12 69175022 missense probably benign 0.01
R2375:Lrr1 UTSW 12 69174923 missense probably benign 0.00
R4748:Lrr1 UTSW 12 69174462 missense probably benign 0.29
R5283:Lrr1 UTSW 12 69174654 missense probably damaging 1.00
R5830:Lrr1 UTSW 12 69178671 missense possibly damaging 0.63
R6259:Lrr1 UTSW 12 69174815 missense probably damaging 1.00
R6264:Lrr1 UTSW 12 69168881 missense probably damaging 1.00
R6788:Lrr1 UTSW 12 69174675 missense probably damaging 1.00
Posted On2012-04-20