Incidental Mutation 'R6698:Rilpl2'
ID 528649
Institutional Source Beutler Lab
Gene Symbol Rilpl2
Ensembl Gene ENSMUSG00000029401
Gene Name Rab interacting lysosomal protein-like 2
Synonyms
MMRRC Submission 044816-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6698 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 124601328-124616298 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 124607843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 126 (E126K)
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 damaging
Transcript: ENSMUST00000031347
AA Change: E126K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000031347
Gene: ENSMUSG00000029401
AA Change: E126K

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 0.6239 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 95% (40/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brca2 T C 5: 150,455,859 (GRCm39) V200A probably damaging Het
Camk2g T A 14: 20,792,776 (GRCm39) K393* probably null Het
Catsperb T A 12: 101,475,466 (GRCm39) F337I probably damaging Het
Cdk17 T C 10: 93,064,540 (GRCm39) Y270H probably damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Col6a5 T A 9: 105,811,374 (GRCm39) N715I unknown Het
Fancg A G 4: 43,007,034 (GRCm39) S248P probably benign Het
Flvcr1 T C 1: 190,757,929 (GRCm39) Y79C probably damaging Het
Gabrp A G 11: 33,507,017 (GRCm39) S198P probably damaging Het
Gask1b A G 3: 79,843,902 (GRCm39) I10V probably damaging Het
Glp1r A G 17: 31,155,375 (GRCm39) Y454C probably damaging Het
Gpr158 A C 2: 21,831,921 (GRCm39) D1007A probably damaging Het
Gsdmc3 A G 15: 63,732,120 (GRCm39) F302S possibly damaging Het
Gsdmc4 T A 15: 63,765,613 (GRCm39) D312V probably benign Het
Itga5 T C 15: 103,259,808 (GRCm39) Y663C probably benign Het
Kif1b A T 4: 149,359,413 (GRCm39) M108K probably damaging Het
Klf11 T G 12: 24,703,618 (GRCm39) S18A probably damaging Het
Lmtk2 T C 5: 144,111,737 (GRCm39) V819A probably benign Het
Lrba A G 3: 86,211,732 (GRCm39) M451V probably damaging Het
Lrp1b T C 2: 41,192,958 (GRCm39) D488G probably damaging Het
Mark4 T C 7: 19,163,362 (GRCm39) N589S probably benign Het
Mis12 T C 11: 70,916,012 (GRCm39) F15S probably damaging Het
Nif3l1 A G 1: 58,489,648 (GRCm39) D179G probably benign Het
Nlrx1 A G 9: 44,177,104 (GRCm39) W3R probably damaging Het
Nup210l G A 3: 90,089,815 (GRCm39) S1194N possibly damaging Het
Or13m2-ps1 A T 6: 42,778,136 (GRCm39) T154S probably benign Het
Or5d20-ps1 A G 2: 87,931,561 (GRCm39) F257L unknown Het
Pnkd T A 1: 74,389,836 (GRCm39) L320Q probably damaging Het
Prkn A G 17: 11,286,183 (GRCm39) probably null Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Homo
Rpn2 T C 2: 157,139,330 (GRCm39) I208T possibly damaging Het
Skint4 G T 4: 111,977,096 (GRCm39) C170F probably damaging Het
Synj1 C G 16: 90,757,340 (GRCm39) V877L probably damaging Het
Tcp11 A T 17: 28,290,804 (GRCm39) I106N possibly damaging Het
Tg A G 15: 66,711,211 (GRCm39) Y991C probably damaging Het
Trib3 A G 2: 152,180,339 (GRCm39) S285P probably damaging Het
Wdr49 A T 3: 75,336,673 (GRCm39) W345R probably benign Het
Wnt5a A G 14: 28,240,420 (GRCm39) Y190C possibly damaging Het
Xpo1 A G 11: 23,244,040 (GRCm39) E955G probably benign Het
Other mutations in Rilpl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02015:Rilpl2 APN 5 124,607,876 (GRCm39) missense probably benign 0.04
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
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
Predicted Primers PCR Primer
(F):5'- CTGTCAAGGACCTTTTGCCAC -3'
(R):5'- TCGATGAATCCTATCCATTCCTGTG -3'

Sequencing Primer
(F):5'- AGGACCTTTTGCCACCAAGG -3'
(R):5'- AATCCTATCCATTCCTGTGTCTTATC -3'
Posted On 2018-07-24