Incidental Mutation 'R5689:Vps16'
ID 443549
Institutional Source Beutler Lab
Gene Symbol Vps16
Ensembl Gene ENSMUSG00000027411
Gene Name VSP16 CORVET/HOPS core subunit
Synonyms 1810074M16Rik
MMRRC Submission 043322-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R5689 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 130266259-130286189 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 130281011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 226 (Q226*)
Ref Sequence ENSEMBL: ENSMUSP00000115899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028900] [ENSMUST00000128994]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000028900
AA Change: Q267*
SMART Domains Protein: ENSMUSP00000028900
Gene: ENSMUSG00000027411
AA Change: Q267*

DomainStartEndE-ValueType
Pfam:Vps16_N 4 420 1e-166 PFAM
low complexity region 452 462 N/A INTRINSIC
Pfam:Vps16_C 517 835 5.5e-150 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125973
Predicted Effect probably null
Transcript: ENSMUST00000128994
AA Change: Q226*
SMART Domains Protein: ENSMUSP00000115899
Gene: ENSMUSG00000027411
AA Change: Q226*

DomainStartEndE-ValueType
Pfam:Vps16_N 4 212 3.2e-74 PFAM
Pfam:Vps16_N 205 316 1e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134677
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (63/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mice with a homozygous point mutation in exon 3 display impaired motor function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 G T 8: 89,051,412 (GRCm39) C844F probably benign Het
Afdn T C 17: 14,075,621 (GRCm39) V945A probably damaging Het
Aimp2 T C 5: 143,843,389 (GRCm39) D67G possibly damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Atp11b G T 3: 35,888,501 (GRCm39) V924F possibly damaging Het
Atp8b1 C T 18: 64,697,608 (GRCm39) R412H probably damaging Het
Cfb T A 17: 35,080,770 (GRCm39) T76S probably benign Het
Cmpk2 A T 12: 26,519,766 (GRCm39) H139L probably benign Het
Cypt4 T C 9: 24,536,542 (GRCm39) S11P possibly damaging Het
Dbx1 A G 7: 49,282,519 (GRCm39) F229L probably damaging Het
Dnah6 T A 6: 72,998,210 (GRCm39) M4071L probably benign Het
Dnah7a A G 1: 53,444,857 (GRCm39) V3949A possibly damaging Het
Dnajc25 A G 4: 59,017,716 (GRCm39) E6G probably damaging Het
Dync2h1 C A 9: 7,169,689 (GRCm39) V263F probably damaging Het
Eno4 T A 19: 58,959,088 (GRCm39) D403E probably benign Het
Evi5l C T 8: 4,255,460 (GRCm39) Q542* probably null Het
Fam135a A G 1: 24,068,134 (GRCm39) S12P probably benign Het
Flnc G A 6: 29,441,591 (GRCm39) A458T probably benign Het
Fnip1 T C 11: 54,393,115 (GRCm39) V517A probably damaging Het
Galc G T 12: 98,179,245 (GRCm39) H361N possibly damaging Het
Gask1a T C 9: 121,794,754 (GRCm39) F303L probably damaging Het
Gcnt1 T A 19: 17,306,768 (GRCm39) D319V probably damaging Het
Gm26996 T C 6: 130,555,258 (GRCm39) noncoding transcript Het
Gm5321 A T 7: 6,022,268 (GRCm39) noncoding transcript Het
Grin3b T C 10: 79,810,465 (GRCm39) L657P probably damaging Het
Gstm5 T C 3: 107,803,981 (GRCm39) F54S probably damaging Het
Ilk C A 7: 105,390,857 (GRCm39) L267I probably benign Het
Lifr A G 15: 7,214,285 (GRCm39) Y713C probably damaging Het
Lnx2 A T 5: 146,965,961 (GRCm39) V386E probably damaging Het
Lrch1 T C 14: 75,023,764 (GRCm39) E587G probably damaging Het
Or10g3 C T 14: 52,610,214 (GRCm39) V99M possibly damaging Het
Osgin1 A G 8: 120,171,728 (GRCm39) *173W probably null Het
Pcdhga7 C A 18: 37,849,736 (GRCm39) P581H probably damaging Het
Pde4dip A T 3: 97,599,683 (GRCm39) L2384* probably null Het
Phf12 T A 11: 77,914,551 (GRCm39) N115K probably damaging Het
Pmel A G 10: 128,552,170 (GRCm39) T335A probably damaging Het
Polr3e C A 7: 120,539,912 (GRCm39) T579K possibly damaging Het
Ptprc A G 1: 138,045,515 (GRCm39) V164A probably benign Het
Rapsn T C 2: 90,866,269 (GRCm39) F43S probably damaging Het
Rarb T A 14: 16,434,177 (GRCm38) I334F probably damaging Het
Rev3l T C 10: 39,670,954 (GRCm39) Y167H probably damaging Het
Rnf146 T C 10: 29,223,800 (GRCm39) T29A probably benign Het
Rsf1 GC GCGGCGGCGCC 7: 97,229,141 (GRCm39) probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc5a10 C T 11: 61,598,710 (GRCm39) M223I probably benign Het
Slc7a11 C G 3: 50,326,780 (GRCm39) V494L probably benign Het
Slitrk6 C T 14: 110,989,558 (GRCm39) E50K probably benign Het
Smg8 A G 11: 86,975,949 (GRCm39) F544S probably damaging Het
Tnpo3 T C 6: 29,571,063 (GRCm39) M444V possibly damaging Het
Trav7d-4 G A 14: 53,007,651 (GRCm39) R48H probably damaging Het
Trim50 A T 5: 135,382,516 (GRCm39) T123S probably damaging Het
Trpc4ap C G 2: 155,512,955 (GRCm39) probably null Het
Ttn T A 2: 76,618,620 (GRCm39) R14475S probably damaging Het
Uts2 A T 4: 151,083,565 (GRCm39) T59S possibly damaging Het
Vmn1r52 T C 6: 90,156,232 (GRCm39) S179P possibly damaging Het
Vmn2r116 A G 17: 23,616,693 (GRCm39) H537R probably benign Het
Zfhx2 T C 14: 55,311,360 (GRCm39) T445A possibly damaging Het
Zfp638 T C 6: 83,906,054 (GRCm39) V73A probably damaging Het
Other mutations in Vps16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Vps16 APN 2 130,279,616 (GRCm39) missense probably benign 0.19
IGL01400:Vps16 APN 2 130,280,273 (GRCm39) missense possibly damaging 0.73
IGL01542:Vps16 APN 2 130,280,314 (GRCm39) missense probably damaging 0.97
IGL02011:Vps16 APN 2 130,283,399 (GRCm39) missense probably benign 0.04
IGL02192:Vps16 APN 2 130,282,852 (GRCm39) missense probably damaging 0.98
IGL02220:Vps16 APN 2 130,283,573 (GRCm39) missense possibly damaging 0.85
IGL02587:Vps16 APN 2 130,281,636 (GRCm39) critical splice donor site probably null
R0427:Vps16 UTSW 2 130,280,770 (GRCm39) missense probably benign 0.00
R0507:Vps16 UTSW 2 130,279,632 (GRCm39) critical splice donor site probably null
R1550:Vps16 UTSW 2 130,282,260 (GRCm39) missense probably benign 0.09
R1789:Vps16 UTSW 2 130,285,520 (GRCm39) missense probably benign 0.42
R3895:Vps16 UTSW 2 130,280,596 (GRCm39) missense possibly damaging 0.96
R3981:Vps16 UTSW 2 130,284,514 (GRCm39) missense possibly damaging 0.77
R4092:Vps16 UTSW 2 130,281,832 (GRCm39) missense probably damaging 1.00
R4555:Vps16 UTSW 2 130,285,496 (GRCm39) missense probably damaging 1.00
R4569:Vps16 UTSW 2 130,284,124 (GRCm39) missense probably benign
R4803:Vps16 UTSW 2 130,280,030 (GRCm39) missense probably benign 0.27
R4835:Vps16 UTSW 2 130,280,220 (GRCm39) splice site probably benign
R5022:Vps16 UTSW 2 130,281,372 (GRCm39) missense probably benign 0.07
R5023:Vps16 UTSW 2 130,281,372 (GRCm39) missense probably benign 0.07
R5057:Vps16 UTSW 2 130,281,372 (GRCm39) missense probably benign 0.07
R5158:Vps16 UTSW 2 130,283,199 (GRCm39) missense probably damaging 1.00
R5177:Vps16 UTSW 2 130,285,288 (GRCm39) nonsense probably null
R5540:Vps16 UTSW 2 130,284,305 (GRCm39) missense probably benign 0.00
R5680:Vps16 UTSW 2 130,282,244 (GRCm39) missense possibly damaging 0.64
R5690:Vps16 UTSW 2 130,281,011 (GRCm39) nonsense probably null
R5926:Vps16 UTSW 2 130,285,476 (GRCm39) missense probably damaging 0.97
R5992:Vps16 UTSW 2 130,266,369 (GRCm39) critical splice donor site probably null
R6135:Vps16 UTSW 2 130,280,573 (GRCm39) missense possibly damaging 0.57
R6370:Vps16 UTSW 2 130,285,304 (GRCm39) missense probably damaging 1.00
R6898:Vps16 UTSW 2 130,279,601 (GRCm39) missense possibly damaging 0.74
R7378:Vps16 UTSW 2 130,280,099 (GRCm39) missense probably damaging 1.00
R7487:Vps16 UTSW 2 130,280,977 (GRCm39) nonsense probably null
R7641:Vps16 UTSW 2 130,282,448 (GRCm39) missense probably benign 0.28
R7720:Vps16 UTSW 2 130,283,623 (GRCm39) nonsense probably null
R8246:Vps16 UTSW 2 130,280,793 (GRCm39) missense probably damaging 1.00
R8363:Vps16 UTSW 2 130,284,161 (GRCm39) missense probably benign 0.08
R9092:Vps16 UTSW 2 130,281,593 (GRCm39) missense probably damaging 0.99
R9128:Vps16 UTSW 2 130,266,319 (GRCm39) missense possibly damaging 0.51
R9352:Vps16 UTSW 2 130,283,823 (GRCm39) critical splice donor site probably null
R9406:Vps16 UTSW 2 130,283,425 (GRCm39) critical splice donor site probably null
R9508:Vps16 UTSW 2 130,284,361 (GRCm39) missense possibly damaging 0.94
R9800:Vps16 UTSW 2 130,282,405 (GRCm39) missense probably benign 0.02
RF021:Vps16 UTSW 2 130,280,129 (GRCm39) missense probably benign 0.09
Z1177:Vps16 UTSW 2 130,283,346 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGTGGTTCTAGGACAGCAAG -3'
(R):5'- GCCACATGCTGACCTATCTG -3'

Sequencing Primer
(F):5'- CAAGGGATACTGTGCTTTGTCCAAG -3'
(R):5'- GCTCTTACACTACCAGTCAAGTGG -3'
Posted On 2016-11-09