Incidental Mutation 'R4835:Vps16'
ID 373128
Institutional Source Beutler Lab
Gene Symbol Vps16
Ensembl Gene ENSMUSG00000027411
Gene Name VSP16 CORVET/HOPS core subunit
Synonyms 1810074M16Rik
MMRRC Submission 042450-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R4835 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 130266259-130286189 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 130280220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028900] [ENSMUST00000128994]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000028900
SMART Domains Protein: ENSMUSP00000028900
Gene: ENSMUSG00000027411

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 benign
Transcript: ENSMUST00000128994
SMART Domains Protein: ENSMUSP00000115899
Gene: ENSMUSG00000027411

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: ENSMUST00000132388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134677
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (96/98)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,274,326 (GRCm39) noncoding transcript Het
4933434E20Rik A G 3: 89,970,516 (GRCm39) N17D probably benign Het
A1bg T C 15: 60,792,100 (GRCm39) D176G probably benign Het
Abcg5 A T 17: 84,966,076 (GRCm39) M428K possibly damaging Het
Adam1a A T 5: 121,657,752 (GRCm39) C514S probably damaging Het
Angptl3 A G 4: 98,925,649 (GRCm39) Q325R probably benign Het
Ankrd26 C T 6: 118,525,811 (GRCm39) W378* probably null Het
Apob T C 12: 8,065,391 (GRCm39) V4087A possibly damaging Het
Auts2 A G 5: 131,494,931 (GRCm39) I117T probably damaging Het
AW146154 T A 7: 41,129,892 (GRCm39) E408V probably damaging Het
Bicd1 A T 6: 149,385,588 (GRCm39) N107I probably benign Het
Blm T C 7: 80,159,294 (GRCm39) S281G probably benign Het
Btaf1 T A 19: 36,979,858 (GRCm39) D1542E probably benign Het
C2cd2l A G 9: 44,226,442 (GRCm39) probably null Het
Capn8 C A 1: 182,432,116 (GRCm39) N362K probably damaging Het
Ccdc14 T G 16: 34,525,408 (GRCm39) S186A probably damaging Het
Cdca4 A G 12: 112,785,167 (GRCm39) L187P probably damaging Het
Chil6 T A 3: 106,313,290 (GRCm39) K20* probably null Het
Cmss1 A T 16: 57,136,545 (GRCm39) L109* probably null Het
Cmtm6 G T 9: 114,560,410 (GRCm39) W36L probably benign Het
Cnksr3 T G 10: 7,110,757 (GRCm39) I35L possibly damaging Het
Col4a2 G T 8: 11,473,570 (GRCm39) G534* probably null Het
Col5a1 T G 2: 27,915,656 (GRCm39) V180G probably damaging Het
Ctnna3 T C 10: 63,417,723 (GRCm39) F154L probably benign Het
Fabp7 G A 10: 57,661,676 (GRCm39) V50M possibly damaging Het
Fam170a T A 18: 50,415,050 (GRCm39) V232D probably damaging Het
Fam186a T G 15: 99,843,689 (GRCm39) T852P unknown Het
Fam20a T C 11: 109,564,389 (GRCm39) I455V probably benign Het
Fbxl6 C T 15: 76,421,004 (GRCm39) V324M probably damaging Het
Galnt18 T C 7: 111,378,730 (GRCm39) T9A probably damaging Het
Golgb1 T A 16: 36,711,769 (GRCm39) M191K possibly damaging Het
Gpld1 A G 13: 25,166,699 (GRCm39) T650A probably benign Het
Gprc5d A G 6: 135,093,515 (GRCm39) F131L probably benign Het
H2az2 C T 11: 6,389,437 (GRCm39) G7E unknown Het
Haus4 A T 14: 54,783,292 (GRCm39) probably null Het
Helq A G 5: 100,922,029 (GRCm39) I725T possibly damaging Het
Igsf23 T A 7: 19,675,755 (GRCm39) D117V possibly damaging Het
Kiz A T 2: 146,784,008 (GRCm39) S514C probably damaging Het
Klhl6 A T 16: 19,775,783 (GRCm39) N258K probably benign Het
Krt72 G C 15: 101,689,508 (GRCm39) probably null Het
Large1 A T 8: 73,774,975 (GRCm39) I245N probably damaging Het
Lrrc31 T C 3: 30,733,306 (GRCm39) I469M probably damaging Het
Lypd4 T A 7: 24,566,121 (GRCm39) I68F probably benign Het
Mast1 A G 8: 85,650,408 (GRCm39) S442P probably damaging Het
Mmp20 T A 9: 7,645,300 (GRCm39) H283Q probably benign Het
Mrps5 G A 2: 127,445,627 (GRCm39) V385M possibly damaging Het
Ms4a15 T C 19: 10,956,590 (GRCm39) K241E possibly damaging Het
Myt1 A G 2: 181,439,255 (GRCm39) E259G probably damaging Het
Myt1l C A 12: 29,945,304 (GRCm39) T1023K unknown Het
Ncapd3 T C 9: 26,997,342 (GRCm39) L1221P probably damaging Het
Ncoa6 A G 2: 155,249,053 (GRCm39) V1417A possibly damaging Het
Nmnat1 A G 4: 149,557,802 (GRCm39) V80A possibly damaging Het
Nwd2 A G 5: 63,965,189 (GRCm39) E1591G probably benign Het
Or10ac1 A G 6: 42,515,770 (GRCm39) F62S probably damaging Het
Or8j3b A G 2: 86,204,853 (GRCm39) L301S possibly damaging Het
Osbpl1a A T 18: 12,901,593 (GRCm39) probably null Het
Papln T C 12: 83,821,194 (GRCm39) I204T probably damaging Het
Phf1 A G 17: 27,153,652 (GRCm39) T97A probably benign Het
Plxnb1 A G 9: 108,934,442 (GRCm39) D890G probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Rbp2 G A 9: 98,389,876 (GRCm39) C96Y probably damaging Het
Rgmb A T 17: 16,027,624 (GRCm39) M365K possibly damaging Het
Ric1 A G 19: 29,572,936 (GRCm39) N792S possibly damaging Het
Ruvbl1 T C 6: 88,474,211 (GRCm39) Y405H possibly damaging Het
Scaf4 A G 16: 90,047,195 (GRCm39) M394T unknown Het
Siglech T A 7: 55,418,177 (GRCm39) C48* probably null Het
Skic2 A G 17: 35,061,897 (GRCm39) V695A possibly damaging Het
Slc2a5 A G 4: 150,224,462 (GRCm39) T320A probably benign Het
Slc6a7 T C 18: 61,135,277 (GRCm39) Y417C probably benign Het
Sox21 A G 14: 118,472,336 (GRCm39) C238R possibly damaging Het
Tbata A T 10: 61,019,132 (GRCm39) K109N probably damaging Het
Tecpr2 T G 12: 110,921,164 (GRCm39) S1246A probably benign Het
Tekt3 A G 11: 62,972,085 (GRCm39) D247G probably benign Het
Tenm3 A T 8: 48,766,271 (GRCm39) probably null Het
Thada A T 17: 84,748,532 (GRCm39) probably null Het
Tpcn2 C T 7: 144,826,088 (GRCm39) G204R probably damaging Het
Tpm2 T C 4: 43,519,220 (GRCm39) probably null Het
Trbv24 T C 6: 41,195,026 (GRCm39) probably benign Het
Tyw1 A G 5: 130,305,899 (GRCm39) R341G probably benign Het
Vmn1r183 T G 7: 23,754,564 (GRCm39) N122K probably benign Het
Vmn2r61 T A 7: 41,916,459 (GRCm39) H357Q possibly damaging Het
Vps13b C T 15: 35,869,518 (GRCm39) T2674I probably damaging Het
Vps13b T C 15: 35,910,439 (GRCm39) L3401P probably benign Het
Vrtn T A 12: 84,696,468 (GRCm39) I406N probably damaging Het
Vwa8 A T 14: 79,172,053 (GRCm39) Y278F probably benign Het
Washc4 A T 10: 83,415,376 (GRCm39) I789F possibly damaging Het
Zbtb20 C A 16: 43,438,761 (GRCm39) T627K probably damaging Het
Zfyve16 A T 13: 92,658,693 (GRCm39) I406K probably benign Het
Zfyve9 A C 4: 108,575,195 (GRCm39) S629A possibly damaging Het
Zpld1 A T 16: 55,068,618 (GRCm39) N164K 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
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
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'- TCTCCTCTGCAGTGGAAGAG -3'
(R):5'- ATCCGTGGTATTGAAGGGCTC -3'

Sequencing Primer
(F):5'- CTCTGCAGTGGAAGAGTGGGC -3'
(R):5'- AAGGGCTCTCTTAAGTATCAGGGC -3'
Posted On 2016-03-01