Incidental Mutation 'IGL02015:Rilpl2'
ID 183693
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rilpl2
Ensembl Gene ENSMUSG00000029401
Gene Name Rab interacting lysosomal protein-like 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02015
Quality Score
Status
Chromosome 5
Chromosomal Location 124601328-124616298 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124607876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 115 (T115A)
Ref Sequence ENSEMBL: ENSMUSP00000031347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031347]
AlphaFold Q99LE1
PDB Structure Crystal Structure of MyoVa-GTD in Complex with Two Cargos [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000031347
AA Change: T115A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000031347
Gene: ENSMUSG00000029401
AA Change: T115A

DomainStartEndE-ValueType
PDB:4KP3|D 1 97 3e-54 PDB
Pfam:RILP 123 180 3.4e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119162
Meta Mutation Damage Score 0.0594 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a rab-interacting lysosomal protein-like domain. This protein may be involved in regulating lysosome morphology. This protein may also be a target for the Hepatitis C virus and assist in viral replication. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9l C A 9: 44,420,098 (GRCm39) probably null Het
C1qtnf12 A G 4: 156,047,201 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
D430041D05Rik A G 2: 104,060,749 (GRCm39) Y1382H probably damaging Het
Fut1 A T 7: 45,268,399 (GRCm39) M118L probably damaging Het
Fzd5 A T 1: 64,775,501 (GRCm39) C87S probably damaging Het
Gmcl1 A G 6: 86,684,439 (GRCm39) V361A possibly damaging Het
Inpp4a T G 1: 37,428,793 (GRCm39) F700V probably damaging Het
Klk1b21 A T 7: 43,753,782 (GRCm39) Q22L probably benign Het
Lrp2 T A 2: 69,357,922 (GRCm39) Q369L probably benign Het
Mtor C T 4: 148,624,570 (GRCm39) Q2117* probably null Het
Naip2 A T 13: 100,298,115 (GRCm39) S640R possibly damaging Het
Nt5e T C 9: 88,249,290 (GRCm39) I408T probably damaging Het
Or10ab5 T A 7: 108,245,220 (GRCm39) N188Y probably damaging Het
Or51h5 G A 7: 102,577,399 (GRCm39) R188H probably benign Het
Or8d2 T C 9: 38,760,090 (GRCm39) S227P probably damaging Het
Plxna1 A G 6: 89,319,433 (GRCm39) L590P probably damaging Het
Ppp1r35 T C 5: 137,778,293 (GRCm39) probably benign Het
Prmt2 G A 10: 76,062,089 (GRCm39) Q39* probably null Het
Ptprg A T 14: 12,237,782 (GRCm38) N1413I possibly damaging Het
Ranbp10 C A 8: 106,506,622 (GRCm39) G233C probably damaging Het
Rapgef2 A G 3: 78,999,371 (GRCm39) probably benign Het
Scaf4 T C 16: 90,055,734 (GRCm39) S108G unknown Het
Scn10a C T 9: 119,494,017 (GRCm39) V430M probably benign Het
Sf3b3 T C 8: 111,542,922 (GRCm39) E845G possibly damaging Het
Skint2 C T 4: 112,481,325 (GRCm39) R63* probably null Het
Slc35b4 A T 6: 34,147,483 (GRCm39) V35D probably damaging Het
Slc6a3 A T 13: 73,692,833 (GRCm39) Y151F possibly damaging Het
Susd1 G A 4: 59,315,745 (GRCm39) T689I possibly damaging Het
Tbx21 T C 11: 96,989,740 (GRCm39) D484G probably benign Het
Tln2 C T 9: 67,268,721 (GRCm39) probably benign Het
Traf3 A G 12: 111,219,174 (GRCm39) N242S probably benign Het
Tut7 A G 13: 59,937,072 (GRCm39) Y790H probably damaging Het
Xiap T A X: 41,185,487 (GRCm39) probably benign Het
Other mutations in Rilpl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2866:Rilpl2 UTSW 5 124,615,898 (GRCm39) missense probably damaging 0.99
R4828:Rilpl2 UTSW 5 124,607,875 (GRCm39) missense possibly damaging 0.88
R5080:Rilpl2 UTSW 5 124,607,876 (GRCm39) missense probably benign 0.04
R5874:Rilpl2 UTSW 5 124,607,876 (GRCm39) missense probably benign 0.04
R6274:Rilpl2 UTSW 5 124,607,911 (GRCm39) missense possibly damaging 0.75
R6316:Rilpl2 UTSW 5 124,615,943 (GRCm39) missense probably damaging 1.00
R6697:Rilpl2 UTSW 5 124,607,843 (GRCm39) missense probably damaging 1.00
R6698:Rilpl2 UTSW 5 124,607,843 (GRCm39) missense probably damaging 1.00
R6700:Rilpl2 UTSW 5 124,607,843 (GRCm39) missense probably damaging 1.00
R7030:Rilpl2 UTSW 5 124,606,656 (GRCm39) missense probably damaging 1.00
R7439:Rilpl2 UTSW 5 124,601,851 (GRCm39) missense probably benign
R7682:Rilpl2 UTSW 5 124,616,043 (GRCm39) missense probably damaging 1.00
R8373:Rilpl2 UTSW 5 124,616,097 (GRCm39) missense probably damaging 1.00
R8823:Rilpl2 UTSW 5 124,606,716 (GRCm39) missense possibly damaging 0.75
R9517:Rilpl2 UTSW 5 124,607,788 (GRCm39) missense probably benign 0.01
R9665:Rilpl2 UTSW 5 124,616,240 (GRCm39) unclassified probably benign
Posted On 2014-05-07