Incidental Mutation 'R5080:Rilpl2'
ID 387076
Institutional Source Beutler Lab
Gene Symbol Rilpl2
Ensembl Gene ENSMUSG00000029401
Gene Name Rab interacting lysosomal protein-like 2
Synonyms
MMRRC Submission 042669-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5080 (G1)
Quality Score 225
Status Validated
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
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.5%
Validation Efficiency 96% (54/56)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 G A 14: 103,286,744 (GRCm39) G16S possibly damaging Het
Adcy4 A T 14: 56,009,832 (GRCm39) M740K probably damaging Het
Atp1a2 T C 1: 172,112,012 (GRCm39) probably benign Het
Atrn T A 2: 130,812,044 (GRCm39) I663N possibly damaging Het
Cacna2d1 T C 5: 16,567,394 (GRCm39) probably null Het
Carf C A 1: 60,189,772 (GRCm39) Q631K probably damaging Het
Ces1d T C 8: 93,908,175 (GRCm39) D306G probably benign Het
Corin T A 5: 72,511,194 (GRCm39) probably benign Het
Csf1r T C 18: 61,257,373 (GRCm39) F575L probably damaging Het
Dcaf6 T C 1: 165,247,690 (GRCm39) D181G probably damaging Het
Dnah11 C T 12: 118,162,565 (GRCm39) M1I probably null Het
Dnah7b C T 1: 46,221,540 (GRCm39) R1215* probably null Het
Dpp3 T A 19: 4,965,108 (GRCm39) D464V probably benign Het
Drosha C A 15: 12,842,229 (GRCm39) A344D probably benign Het
Fat3 G T 9: 15,910,634 (GRCm39) S1789R probably benign Het
Fhip2a A T 19: 57,361,713 (GRCm39) K134I probably damaging Het
Frg2f1 T C 4: 119,388,230 (GRCm39) T90A possibly damaging Het
Frrs1 T C 3: 116,696,585 (GRCm39) I544T probably benign Het
Gm20939 T C 17: 95,184,419 (GRCm39) C356R probably damaging Het
Ifi206 T A 1: 173,301,414 (GRCm39) I755F possibly damaging Het
Kntc1 T A 5: 123,900,649 (GRCm39) V249E possibly damaging Het
Lama5 A T 2: 179,848,993 (GRCm39) L230* probably null Het
Lce1e C T 3: 92,615,137 (GRCm39) C70Y unknown Het
Ltbp2 T C 12: 84,850,638 (GRCm39) N892S probably damaging Het
Mfsd4b5 T A 10: 39,846,570 (GRCm39) M337L probably damaging Het
Noxo1 T A 17: 24,918,331 (GRCm39) C164S probably damaging Het
Or2y1b G T 11: 49,208,914 (GRCm39) M180I probably benign Het
Or5j3 G A 2: 86,128,258 (GRCm39) V33M probably benign Het
Osbpl6 T C 2: 76,354,429 (GRCm39) S15P probably benign Het
Pcdh17 A G 14: 84,770,750 (GRCm39) Y1076C probably benign Het
Pik3c2a T A 7: 115,947,509 (GRCm39) H1391L probably damaging Het
Plcg2 A G 8: 118,316,742 (GRCm39) Y573C probably benign Het
Prpf3 T A 3: 95,741,109 (GRCm39) H600L probably benign Het
Rpl15-ps6 A G 15: 52,341,446 (GRCm39) noncoding transcript Het
Serpini1 T C 3: 75,523,967 (GRCm39) S192P probably damaging Het
Sp110 G T 1: 85,523,776 (GRCm39) Y18* probably null Het
Stard6 A T 18: 70,629,293 (GRCm39) I126F probably damaging Het
Strip2 T A 6: 29,945,592 (GRCm39) L660H probably damaging Het
Tmed3 G A 9: 89,581,825 (GRCm39) R213* probably null Het
Tns1 G T 1: 73,992,099 (GRCm39) P860T probably damaging Het
Togaram1 T C 12: 65,030,177 (GRCm39) S994P probably benign Het
Tomm34 G A 2: 163,912,816 (GRCm39) probably benign Het
Trank1 G A 9: 111,218,289 (GRCm39) E1890K probably damaging Het
Wasf3 C T 5: 146,397,907 (GRCm39) H225Y probably benign Het
Wdr37 A T 13: 8,897,710 (GRCm39) probably null Het
Zbtb7c A C 18: 76,270,413 (GRCm39) D167A probably benign Het
Zkscan4 A G 13: 21,665,498 (GRCm39) T158A 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
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
Predicted Primers PCR Primer
(F):5'- TGTCAAGGACCTTTTGCCAC -3'
(R):5'- TCGATGAATCCTATCCATTCCTGTG -3'

Sequencing Primer
(F):5'- AGGACCTTTTGCCACCAAGG -3'
(R):5'- AATCCTATCCATTCCTGTGTCTTATC -3'
Posted On 2016-06-06