Incidental Mutation 'R2866:Rilpl2'
ID 253230
Institutional Source Beutler Lab
Gene Symbol Rilpl2
Ensembl Gene ENSMUSG00000029401
Gene Name Rab interacting lysosomal protein-like 2
Synonyms
MMRRC Submission 040455-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2866 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 124601328-124616298 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124615898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 84 (D84G)
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: D84G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031347
Gene: ENSMUSG00000029401
AA Change: D84G

DomainStartEndE-ValueType
PDB:4KP3|D 1 97 3e-54 PDB
Pfam:RILP 123 180 3.4e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198413
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atmin T A 8: 117,683,112 (GRCm39) D257E probably benign Het
Best1 T C 19: 9,963,585 (GRCm39) E532G probably benign Het
Cenpj T C 14: 56,789,637 (GRCm39) H804R probably benign Het
Clec2g T C 6: 128,925,719 (GRCm39) S43P probably benign Het
Col8a2 A G 4: 126,204,992 (GRCm39) probably benign Het
Cpz T C 5: 35,659,705 (GRCm39) K647E probably benign Het
Csmd2 T C 4: 128,308,185 (GRCm39) probably null Het
Ctss A G 3: 95,452,717 (GRCm39) K166R probably benign Het
Cyp2c23 T C 19: 43,993,885 (GRCm39) R494G probably damaging Het
Cyp2c68 A G 19: 39,677,589 (GRCm39) I467T probably damaging Het
Dcaf11 A T 14: 55,803,202 (GRCm39) T299S possibly damaging Het
Dennd1b A G 1: 139,098,019 (GRCm39) S762G possibly damaging Het
Epb42 C T 2: 120,856,402 (GRCm39) A381T possibly damaging Het
Fhad1 A G 4: 141,648,099 (GRCm39) Y256H probably benign Het
Gfra1 C T 19: 58,227,739 (GRCm39) A395T possibly damaging Het
Gm10323 C A 13: 67,002,574 (GRCm39) C55F probably benign Het
Greb1 T C 12: 16,749,551 (GRCm39) S1092G probably damaging Het
Grid1 A T 14: 35,284,516 (GRCm39) D753V probably damaging Het
Grin2b A G 6: 135,710,637 (GRCm39) F970L probably damaging Het
Kcnma1 A T 14: 23,423,275 (GRCm39) N682K probably benign Het
Lat2 T A 5: 134,634,798 (GRCm39) D114V probably damaging Het
Lcat C T 8: 106,666,511 (GRCm39) C337Y probably damaging Het
Mapk10 C T 5: 103,186,548 (GRCm39) D25N probably benign Het
Mroh7 C T 4: 106,548,287 (GRCm39) G1064R probably damaging Het
Muc21 T C 17: 35,930,599 (GRCm39) probably benign Het
Or10h5 T A 17: 33,435,252 (GRCm39) H22L probably benign Het
Or51ah3 A T 7: 103,210,064 (GRCm39) I127F probably damaging Het
Or5p5 T A 7: 107,414,126 (GRCm39) C112S probably benign Het
Or8k39 A T 2: 86,563,773 (GRCm39) F61Y possibly damaging Het
Polr1has A T 17: 37,276,052 (GRCm39) R211S possibly damaging Het
Psg27 T A 7: 18,295,818 (GRCm39) D209V probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Pzp A G 6: 128,502,227 (GRCm39) S41P possibly damaging Het
Rab23 A T 1: 33,777,376 (GRCm39) K163N possibly damaging Het
Sorl1 A G 9: 41,881,077 (GRCm39) I2148T probably benign Het
Tead1 A G 7: 112,358,694 (GRCm39) E2G probably damaging Het
Tigd4 A G 3: 84,501,259 (GRCm39) N59D possibly damaging Het
Tmprss15 T A 16: 78,832,121 (GRCm39) D345V possibly damaging Het
Togaram2 T C 17: 72,016,592 (GRCm39) S649P probably benign Het
Ucp2 T C 7: 100,146,459 (GRCm39) V95A probably benign Het
Usp17lb T C 7: 104,489,955 (GRCm39) D323G probably damaging Het
Zfp677 A T 17: 21,617,518 (GRCm39) K192* probably null Het
Zmym2 T A 14: 57,165,705 (GRCm39) I676K probably damaging Het
Other mutations in Rilpl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02015:Rilpl2 APN 5 124,607,876 (GRCm39) missense probably benign 0.04
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
Predicted Primers PCR Primer
(F):5'- CTAAGTCAATTAGAAACGAAGCAGT -3'
(R):5'- GACGACGTGTACGACATCTC -3'

Sequencing Primer
(F):5'- AGGTCGTGAGTTCAAATCCC -3'
(R):5'- GACGACGTGTACGACATCTCCTATG -3'
Posted On 2014-12-04