Incidental Mutation 'R7487:Vps16'
ID 580225
Institutional Source Beutler Lab
Gene Symbol Vps16
Ensembl Gene ENSMUSG00000027411
Gene Name VSP16 CORVET/HOPS core subunit
Synonyms 1810074M16Rik
MMRRC Submission 045561-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R7487 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 130266259-130286189 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 130280977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 255 (C255*)
Ref Sequence ENSEMBL: ENSMUSP00000028900 (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: C255*
SMART Domains Protein: ENSMUSP00000028900
Gene: ENSMUSG00000027411
AA Change: C255*

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 probably null
Transcript: ENSMUST00000128994
AA Change: C214*
SMART Domains Protein: ENSMUSP00000115899
Gene: ENSMUSG00000027411
AA Change: C214*

DomainStartEndE-ValueType
Pfam:Vps16_N 4 212 3.2e-74 PFAM
Pfam:Vps16_N 205 316 1e-45 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (89/89)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,772,629 (GRCm39) D606V probably damaging Het
1700009N14Rik T A 4: 39,450,929 (GRCm39) V45E probably damaging Het
2510009E07Rik C T 16: 21,472,479 (GRCm39) V74M probably damaging Het
Abca2 C T 2: 25,327,915 (GRCm39) T739M probably benign Het
Abra T C 15: 41,732,949 (GRCm39) E39G probably damaging Het
Adam34 A T 8: 44,104,191 (GRCm39) C485S probably damaging Het
Add2 G T 6: 86,070,432 (GRCm39) V175F possibly damaging Het
Alk T A 17: 72,256,893 (GRCm39) K655N probably benign Het
Ap3m1 A G 14: 21,088,107 (GRCm39) V317A probably benign Het
Astn1 A G 1: 158,438,352 (GRCm39) probably null Het
Atm A T 9: 53,435,654 (GRCm39) Y219N probably benign Het
Cep128 C T 12: 90,966,404 (GRCm39) A1068T probably benign Het
Cep20 T C 16: 14,128,968 (GRCm39) D85G probably benign Het
Cnksr3 T C 10: 7,085,097 (GRCm39) Q250R probably benign Het
Cst7 A G 2: 150,419,624 (GRCm39) T97A probably benign Het
Ctps1 G A 4: 120,415,997 (GRCm39) L209F probably damaging Het
Cyp2d10 A T 15: 82,288,793 (GRCm39) F230I probably benign Het
Daam2 T C 17: 49,793,510 (GRCm39) N336D probably benign Het
Dchs2 T C 3: 83,263,613 (GRCm39) S3294P probably damaging Het
Dhx36 G T 3: 62,391,623 (GRCm39) N574K possibly damaging Het
Dock10 G T 1: 80,562,765 (GRCm39) Q533K probably benign Het
Dync2h1 A G 9: 7,132,041 (GRCm39) S1589P probably benign Het
Enpp3 T A 10: 24,681,821 (GRCm39) Y295F probably benign Het
Esrrg T A 1: 187,878,620 (GRCm39) Y234N probably benign Het
Fadd A C 7: 144,134,462 (GRCm39) V141G probably damaging Het
Fam114a2 C T 11: 57,404,515 (GRCm39) G83D probably damaging Het
Fam170b T A 14: 32,557,776 (GRCm39) C204S probably damaging Het
Fam186a T A 15: 99,840,017 (GRCm39) I2076F possibly damaging Het
Fdxacb1 G A 9: 50,681,519 (GRCm39) V147I possibly damaging Het
Frem2 C A 3: 53,561,970 (GRCm39) V846F probably benign Het
Fry G A 5: 150,338,039 (GRCm39) S1449N possibly damaging Het
Gucy1b2 A G 14: 62,685,672 (GRCm39) F98L probably damaging Het
Hps1 T C 19: 42,744,700 (GRCm39) Y658C probably damaging Het
Igkv3-9 T A 6: 70,565,506 (GRCm39) L35Q probably damaging Het
Irx2 A G 13: 72,778,739 (GRCm39) Y101C probably damaging Het
Kcnj11 G T 7: 45,748,265 (GRCm39) R353S probably benign Het
Kyat3 C T 3: 142,431,955 (GRCm39) Q228* probably null Het
Lama3 T A 18: 12,552,294 (GRCm39) D415E probably benign Het
Lcn3 G A 2: 25,656,174 (GRCm39) probably null Het
Lin7b T C 7: 45,019,364 (GRCm39) E68G possibly damaging Het
Lmbr1 T A 5: 29,459,262 (GRCm39) K379M probably benign Het
Lrig1 A G 6: 94,583,099 (GRCm39) S1006P probably benign Het
Lrrc37a T G 11: 103,389,045 (GRCm39) T2127P unknown Het
Map4 A G 9: 109,856,783 (GRCm39) D151G probably damaging Het
Marchf1 A T 8: 66,908,726 (GRCm39) T149S probably benign Het
Msh4 A T 3: 153,569,147 (GRCm39) F809I probably damaging Het
Muc16 G A 9: 18,496,095 (GRCm39) P6699S possibly damaging Het
Mxi1 A T 19: 53,360,088 (GRCm39) D270V probably damaging Het
Myh6 A T 14: 55,190,953 (GRCm39) C907* probably null Het
Myo18b T C 5: 112,982,299 (GRCm39) R1145G possibly damaging Het
Nkx2-6 A C 14: 69,409,389 (GRCm39) N47H probably benign Het
Nol7 G A 13: 43,552,076 (GRCm39) A66T probably damaging Het
Ntrk3 T C 7: 77,900,461 (GRCm39) N626S probably damaging Het
Nwd1 A G 8: 73,393,266 (GRCm39) Y77C unknown Het
Or12d17 G T 17: 37,777,457 (GRCm39) R120L probably damaging Het
Or12k5 A C 2: 36,894,786 (GRCm39) V280G probably damaging Het
Or8c14-ps1 A G 9: 38,101,356 (GRCm39) S112G probably damaging Het
Or8j3b A T 2: 86,205,475 (GRCm39) Y94N probably damaging Het
Or9s23 G A 1: 92,501,517 (GRCm39) G208D possibly damaging Het
Otop3 A G 11: 115,235,826 (GRCm39) D486G probably benign Het
Pak1ip1 A G 13: 41,162,731 (GRCm39) K178R probably benign Het
Pcsk1 G A 13: 75,259,002 (GRCm39) G259S probably benign Het
Pde6a A G 18: 61,383,031 (GRCm39) D338G probably damaging Het
Pias4 A T 10: 80,999,806 (GRCm39) D82E probably benign Het
Plekha5 C A 6: 140,516,059 (GRCm39) Q771K probably benign Het
Plekhh3 C A 11: 101,056,405 (GRCm39) A397S possibly damaging Het
Prg4 G T 1: 150,331,656 (GRCm39) T339N unknown Het
Prss22 A T 17: 24,216,971 (GRCm39) I3N probably damaging Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Rspo2 T C 15: 42,941,510 (GRCm39) T138A probably benign Het
Rtcb C T 10: 85,789,333 (GRCm39) G70S probably benign Het
Selenov A T 7: 27,989,803 (GRCm39) S234T probably damaging Het
Shtn1 T C 19: 58,992,292 (GRCm39) T429A probably damaging Het
Slc4a3 G T 1: 75,530,021 (GRCm39) R622L probably benign Het
Smc2 T C 4: 52,478,448 (GRCm39) I1015T probably damaging Het
Spata9 G T 13: 76,115,959 (GRCm39) V3F possibly damaging Het
Tlr4 T C 4: 66,842,659 (GRCm39) I105T probably benign Het
Trav6d-4 A T 14: 52,991,096 (GRCm39) Y47F possibly damaging Het
Ttn A T 2: 76,657,377 (GRCm39) I12450N unknown Het
Umad1 G T 6: 8,270,560 (GRCm39) A21S probably damaging Het
Unc5a G A 13: 55,144,362 (GRCm39) R229H probably benign Het
Vmn1r216 A T 13: 23,284,030 (GRCm39) M238L probably damaging Het
Wdr89 A G 12: 75,679,388 (GRCm39) F289L probably benign Het
Zfp180 A T 7: 23,805,525 (GRCm39) H648L probably damaging Het
Zfp735 A G 11: 73,581,154 (GRCm39) K64E possibly damaging Het
Zfp990 G A 4: 145,264,157 (GRCm39) C385Y probably damaging Het
Zswim3 G T 2: 164,662,135 (GRCm39) S205I 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
R5689:Vps16 UTSW 2 130,281,011 (GRCm39) nonsense probably null
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
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'- GCACTCTTCACAGACACAGG -3'
(R):5'- TGGCCCATAGAGGACAAAGTTC -3'

Sequencing Primer
(F):5'- CACAGGCTACATCTGGATGG -3'
(R):5'- TCTCCTTTAAGTGCAGCAGAG -3'
Posted On 2019-10-07