Incidental Mutation 'R7439:Rilpl2'
ID576815
Institutional Source Beutler Lab
Gene Symbol Rilpl2
Ensembl Gene ENSMUSG00000029401
Gene NameRab interacting lysosomal protein-like 2
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7439 (G1)
Quality Score225.009
Status Not validated
Chromosome5
Chromosomal Location124463265-124478366 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 124463788 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 196 (H196L)
Ref Sequence ENSEMBL: ENSMUSP00000031347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031347] [ENSMUST00000059580] [ENSMUST00000100709] [ENSMUST00000198451] [ENSMUST00000199798]
PDB Structure
Crystal Structure of MyoVa-GTD in Complex with Two Cargos [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000031347
AA Change: H196L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031347
Gene: ENSMUSG00000029401
AA Change: H196L

DomainStartEndE-ValueType
PDB:4KP3|D 1 97 3e-54 PDB
Pfam:RILP 123 180 3.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059580
SMART Domains Protein: ENSMUSP00000052953
Gene: ENSMUSG00000049327

DomainStartEndE-ValueType
low complexity region 12 24 N/A INTRINSIC
Blast:SET 87 197 2e-44 BLAST
SET 214 341 1.4e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100709
SMART Domains Protein: ENSMUSP00000098275
Gene: ENSMUSG00000049327

DomainStartEndE-ValueType
low complexity region 4 49 N/A INTRINSIC
Blast:SET 101 211 1e-44 BLAST
SET 228 355 1.4e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198451
SMART Domains Protein: ENSMUSP00000143207
Gene: ENSMUSG00000049327

DomainStartEndE-ValueType
Blast:SET 32 142 3e-45 BLAST
SET 159 286 9e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199798
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530003J23Rik G A 10: 117,238,697 probably benign Het
Acacb T C 5: 114,195,642 V542A possibly damaging Het
Adprhl1 C T 8: 13,223,069 V1230I probably benign Het
Agpat1 T A 17: 34,610,909 Y77N probably damaging Het
Apc T A 18: 34,312,073 I674K probably damaging Het
Arpc5 T C 1: 152,771,436 S97P probably damaging Het
Arrdc5 A G 17: 56,297,931 F119L probably benign Het
Asap1 A G 15: 64,130,256 V402A probably damaging Het
Aspg T C 12: 112,124,821 V479A possibly damaging Het
B3galnt2 G A 13: 13,994,485 V368M probably benign Het
Bcl3 T C 7: 19,822,611 T23A probably benign Het
Bpifb5 A G 2: 154,228,933 K215E possibly damaging Het
Coa4 T A 7: 100,539,271 C64S probably damaging Het
Dcun1d4 T C 5: 73,491,536 probably null Het
Dnaaf5 T G 5: 139,166,113 C506W probably damaging Het
Dock3 A G 9: 107,023,732 Y345H probably damaging Het
Dscaml1 A G 9: 45,710,326 N1024S possibly damaging Het
Dsp T C 13: 38,176,502 probably null Het
Dsp A G 13: 38,195,449 T2057A probably benign Het
Dync1h1 T G 12: 110,636,453 L2176R probably damaging Het
Eif5b A C 1: 38,051,637 D1192A probably benign Het
Epn2 A T 11: 61,546,848 probably benign Het
Exoc1 T A 5: 76,545,348 N360K probably benign Het
Fam135b A T 15: 71,463,680 V555E probably damaging Het
Fam208a T A 14: 27,471,645 V934E probably damaging Het
Fmn1 A T 2: 113,441,611 Q108L unknown Het
Gcc2 A G 10: 58,256,901 T48A probably benign Het
Gm438 T C 4: 144,777,762 D273G probably damaging Het
Gm6619 T G 6: 131,490,391 I73S possibly damaging Het
Gm8267 T A 14: 44,722,940 D116V probably damaging Het
Hapln3 T A 7: 79,117,269 T341S probably benign Het
Lamb3 C A 1: 193,332,166 D544E possibly damaging Het
Lhx5 T A 5: 120,440,284 S390T probably benign Het
Lrrc63 A G 14: 75,126,257 S145P possibly damaging Het
Lrriq1 T C 10: 103,214,519 M791V probably benign Het
Lyg2 A G 1: 37,911,137 Y37H possibly damaging Het
Nrbp1 T A 5: 31,244,956 M172K probably damaging Het
Olfr1044 T A 2: 86,171,010 D269V probably damaging Het
Olfr1261 A G 2: 89,993,839 I149V probably benign Het
Olfr168 T G 16: 19,530,900 S7R probably benign Het
Pcyt2 A T 11: 120,611,383 Y308N possibly damaging Het
Peg10 C CTCA 6: 4,756,453 probably benign Het
Phf21b A G 15: 84,804,903 S141P probably damaging Het
Pigh G A 12: 79,089,550 P24S probably benign Het
Plekhg3 A G 12: 76,576,485 D834G probably damaging Het
Plekhg5 T A 4: 152,113,935 V860D probably benign Het
Pon1 A G 6: 5,177,399 I170T probably damaging Het
Ptpn9 T A 9: 57,027,433 Y160* probably null Het
Ptprj T C 2: 90,449,819 K1045R possibly damaging Het
Rnf112 C T 11: 61,451,028 V317I possibly damaging Het
Rundc3a G T 11: 102,400,046 probably null Het
Sgsm1 T C 5: 113,274,321 Y489C probably damaging Het
Sis G A 3: 72,909,041 H1531Y possibly damaging Het
Slc26a9 A G 1: 131,762,818 Y520C probably damaging Het
Smc5 A G 19: 23,242,700 V467A probably damaging Het
Spata20 G A 11: 94,484,041 A245V probably benign Het
Steap3 A C 1: 120,241,518 F350V probably benign Het
Sucnr1 A G 3: 60,086,696 Q215R probably benign Het
Supv3l1 G A 10: 62,430,615 A594V probably damaging Het
Swt1 A T 1: 151,411,064 F226I probably benign Het
Taar7f A G 10: 24,049,987 T160A possibly damaging Het
Tada2a A T 11: 84,126,986 probably null Het
Taok3 C A 5: 117,250,909 Q460K probably damaging Het
Twf2 A G 9: 106,214,398 E268G probably damaging Het
Upf2 A T 2: 6,018,932 I698F unknown Het
Vmn2r35 T A 7: 7,817,014 N86Y probably damaging Het
Vmn2r84 T C 10: 130,392,113 T85A possibly damaging Het
Vps13d A G 4: 145,105,856 S2833P Het
Xrn1 T C 9: 96,051,629 S1584P probably benign Het
Zfp354b T C 11: 50,922,397 Y567C probably damaging Het
Zfp52 A T 17: 21,560,870 R327* probably null Het
Other mutations in Rilpl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02015:Rilpl2 APN 5 124469813 missense probably benign 0.04
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
R7682:Rilpl2 UTSW 5 124477980 missense probably damaging 1.00
R8373:Rilpl2 UTSW 5 124478034 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGAGAGCAGGTGAGCC -3'
(R):5'- GAGGCCCTGAACAAAACATTATT -3'

Sequencing Primer
(F):5'- CATGGGAGGGAGCATCTTC -3'
(R):5'- ACTTGCTATGTAGACCAGGC -3'
Posted On2019-10-07