Incidental Mutation 'IGL02015:Rilpl2'
ID183693
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rilpl2
Ensembl Gene ENSMUSG00000029401
Gene NameRab interacting lysosomal protein-like 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02015
Quality Score
Status
Chromosome5
Chromosomal Location124463265-124478366 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 124469813 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 115 (T115A)
Ref Sequence ENSEMBL: ENSMUSP00000031347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031347]
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: 44,508,801 probably null Het
C1qtnf12 A G 4: 155,962,744 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
D430041D05Rik A G 2: 104,230,404 Y1382H probably damaging Het
Fut1 A T 7: 45,618,975 M118L probably damaging Het
Fzd5 A T 1: 64,736,342 C87S probably damaging Het
Gmcl1 A G 6: 86,707,457 V361A possibly damaging Het
Inpp4a T G 1: 37,389,712 F700V probably damaging Het
Klk1b21 A T 7: 44,104,358 Q22L probably benign Het
Lrp2 T A 2: 69,527,578 Q369L probably benign Het
Mtor C T 4: 148,540,113 Q2117* probably null Het
Naip2 A T 13: 100,161,607 S640R possibly damaging Het
Nt5e T C 9: 88,367,237 I408T probably damaging Het
Olfr509 T A 7: 108,646,013 N188Y probably damaging Het
Olfr572 G A 7: 102,928,192 R188H probably benign Het
Olfr924 T C 9: 38,848,794 S227P probably damaging Het
Plxna1 A G 6: 89,342,451 L590P probably damaging Het
Ppp1r35 T C 5: 137,780,031 probably benign Het
Prmt2 G A 10: 76,226,255 Q39* probably null Het
Ptprg A T 14: 12,237,782 N1413I possibly damaging Het
Ranbp10 C A 8: 105,779,990 G233C probably damaging Het
Rapgef2 A G 3: 79,092,064 probably benign Het
Scaf4 T C 16: 90,258,846 S108G unknown Het
Scn10a C T 9: 119,664,951 V430M probably benign Het
Sf3b3 T C 8: 110,816,290 E845G possibly damaging Het
Skint2 C T 4: 112,624,128 R63* probably null Het
Slc35b4 A T 6: 34,170,548 V35D probably damaging Het
Slc6a3 A T 13: 73,544,714 Y151F possibly damaging Het
Susd1 G A 4: 59,315,745 T689I possibly damaging Het
Tbx21 T C 11: 97,098,914 D484G probably benign Het
Tln2 C T 9: 67,361,439 probably benign Het
Traf3 A G 12: 111,252,740 N242S probably benign Het
Xiap T A X: 42,096,610 probably benign Het
Zcchc6 A G 13: 59,789,258 Y790H probably damaging Het
Other mutations in Rilpl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2866:Rilpl2 UTSW 5 124477835 missense probably damaging 0.99
R4828:Rilpl2 UTSW 5 124469812 missense possibly damaging 0.88
R5080:Rilpl2 UTSW 5 124469813 missense probably benign 0.04
R5874:Rilpl2 UTSW 5 124469813 missense probably benign 0.04
R6274:Rilpl2 UTSW 5 124469848 missense possibly damaging 0.75
R6316:Rilpl2 UTSW 5 124477880 missense probably damaging 1.00
R6697:Rilpl2 UTSW 5 124469780 missense probably damaging 1.00
R6698:Rilpl2 UTSW 5 124469780 missense probably damaging 1.00
R6700:Rilpl2 UTSW 5 124469780 missense probably damaging 1.00
R7030:Rilpl2 UTSW 5 124468593 missense probably damaging 1.00
R7439:Rilpl2 UTSW 5 124463788 missense probably benign
R7682:Rilpl2 UTSW 5 124477980 missense probably damaging 1.00
R8373:Rilpl2 UTSW 5 124478034 missense probably damaging 1.00
Posted On2014-05-07