Incidental Mutation 'R8373:Rilpl2'
ID 646535
Institutional Source Beutler Lab
Gene Symbol Rilpl2
Ensembl Gene ENSMUSG00000029401
Gene Name Rab interacting lysosomal protein-like 2
MMRRC Submission 067741-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8373 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 124463265-124478366 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 124478034 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 18 (A18S)
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: A18S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031347
Gene: ENSMUSG00000029401
AA Change: A18S

PDB:4KP3|D 1 97 3e-54 PDB
Pfam:RILP 123 180 3.4e-25 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210010C04Rik T G 6: 41,031,688 (GRCm38) T231P possibly damaging Het
Adgrg6 T C 10: 14,467,334 (GRCm38) T290A probably benign Het
Aff4 C T 11: 53,400,267 (GRCm38) Q685* probably null Het
Ankmy1 A G 1: 92,896,094 (GRCm38) M150T probably damaging Het
Armc1 T C 3: 19,149,567 (GRCm38) Y65C probably damaging Het
Armc8 A G 9: 99,527,099 (GRCm38) V222A probably benign Het
Bcar1 A T 8: 111,715,738 (GRCm38) Y228* probably null Het
Cct2 T C 10: 117,060,824 (GRCm38) D158G possibly damaging Het
Cul1 T A 6: 47,515,063 (GRCm38) C426S possibly damaging Het
Deup1 G T 9: 15,592,375 (GRCm38) L297M possibly damaging Het
Dpp10 A G 1: 123,854,229 (GRCm38) S74P possibly damaging Het
Epha4 A G 1: 77,507,079 (GRCm38) Y98H possibly damaging Het
Epn3 T G 11: 94,492,936 (GRCm38) D296A probably damaging Het
Eri2 A C 7: 119,772,597 (GRCm38) I252S probably benign Het
Gm14025 T A 2: 129,038,171 (GRCm38) I612F Het
Gp9 C T 6: 87,779,012 (GRCm38) T3I probably benign Het
H2-Q5 T A 17: 35,394,456 (GRCm38) V55E Het
Kif3c G T 12: 3,366,089 (GRCm38) V37L probably benign Het
Lct A T 1: 128,303,840 (GRCm38) N757K probably damaging Het
Lhx8 A C 3: 154,324,658 (GRCm38) N112K probably damaging Het
Loxl3 T A 6: 83,048,891 (GRCm38) S373R possibly damaging Het
Mettl4 G A 17: 94,733,649 (GRCm38) T359I probably damaging Het
Mpp7 A G 18: 7,444,096 (GRCm38) S109P probably damaging Het
Nckap5 A G 1: 126,026,295 (GRCm38) V840A probably benign Het
Ncoa4 T A 14: 32,176,936 (GRCm38) L571Q probably damaging Het
Olfr453 T C 6: 42,744,346 (GRCm38) F103S probably damaging Het
Olfr46 A T 7: 140,610,295 (GRCm38) Y35F possibly damaging Het
Phgdh G A 3: 98,321,245 (GRCm38) T204I probably damaging Het
Pla2g4d C T 2: 120,277,499 (GRCm38) V310M probably null Het
Psmd12 C T 11: 107,497,624 (GRCm38) P421L probably damaging Het
Ptch1 A G 13: 63,541,168 (GRCm38) Y432H probably damaging Het
Rapgef1 G A 2: 29,710,231 (GRCm38) G655S probably damaging Het
Srsf7 T C 17: 80,205,386 (GRCm38) R88G probably benign Het
St6galnac1 T C 11: 116,769,233 (GRCm38) K85E possibly damaging Het
Trip12 A T 1: 84,795,767 (GRCm38) S49R probably damaging Het
Wdr48 A G 9: 119,905,494 (GRCm38) T160A probably damaging Het
Zfp704 G A 3: 9,609,442 (GRCm38) T93M unknown Het
Other mutations in Rilpl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02015:Rilpl2 APN 5 124,469,813 (GRCm38) missense probably benign 0.04
R2866:Rilpl2 UTSW 5 124,477,835 (GRCm38) missense probably damaging 0.99
R4828:Rilpl2 UTSW 5 124,469,812 (GRCm38) missense possibly damaging 0.88
R5080:Rilpl2 UTSW 5 124,469,813 (GRCm38) missense probably benign 0.04
R5874:Rilpl2 UTSW 5 124,469,813 (GRCm38) missense probably benign 0.04
R6274:Rilpl2 UTSW 5 124,469,848 (GRCm38) missense possibly damaging 0.75
R6316:Rilpl2 UTSW 5 124,477,880 (GRCm38) missense probably damaging 1.00
R6697:Rilpl2 UTSW 5 124,469,780 (GRCm38) missense probably damaging 1.00
R6698:Rilpl2 UTSW 5 124,469,780 (GRCm38) missense probably damaging 1.00
R6700:Rilpl2 UTSW 5 124,469,780 (GRCm38) missense probably damaging 1.00
R7030:Rilpl2 UTSW 5 124,468,593 (GRCm38) missense probably damaging 1.00
R7439:Rilpl2 UTSW 5 124,463,788 (GRCm38) missense probably benign
R7682:Rilpl2 UTSW 5 124,477,980 (GRCm38) missense probably damaging 1.00
R8823:Rilpl2 UTSW 5 124,468,653 (GRCm38) missense possibly damaging 0.75
R9517:Rilpl2 UTSW 5 124,469,725 (GRCm38) missense probably benign 0.01
R9665:Rilpl2 UTSW 5 124,478,177 (GRCm38) unclassified probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-09-02