Incidental Mutation 'R9406:Vps16'
ID 711517
Institutional Source Beutler Lab
Gene Symbol Vps16
Ensembl Gene ENSMUSG00000027411
Gene Name VSP16 CORVET/HOPS core subunit
Synonyms 1810074M16Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R9406 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 130266259-130286189 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 130283425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028900] [ENSMUST00000028900] [ENSMUST00000028900] [ENSMUST00000128994]
AlphaFold no structure available at present
Predicted Effect probably null
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 probably null
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 probably null
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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik A G 17: 35,879,487 (GRCm39) Y275C possibly damaging Het
4932414N04Rik A G 2: 68,498,019 (GRCm39) K150R unknown Het
Aatf ACACACACACACACACACACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACACACACACACACACACACACACAC 11: 84,361,866 (GRCm39) probably null Het
Ank3 C A 10: 69,645,011 (GRCm39) T92K unknown Het
Armh4 C T 14: 50,010,945 (GRCm39) G254E possibly damaging Het
Cdca2 T C 14: 67,937,772 (GRCm39) S294G unknown Het
Cerk A G 15: 86,028,787 (GRCm39) I423T possibly damaging Het
Cfap74 A T 4: 155,510,626 (GRCm39) K404* probably null Het
Cftr T C 6: 18,299,866 (GRCm39) V1213A probably benign Het
Chst11 A G 10: 83,026,881 (GRCm39) T103A possibly damaging Het
Col22a1 A G 15: 71,845,541 (GRCm39) I407T probably damaging Het
Cpn2 A G 16: 30,078,360 (GRCm39) V447A probably benign Het
Crybg3 T C 16: 59,378,839 (GRCm39) E805G probably benign Het
Cstb A G 10: 78,263,173 (GRCm39) H66R probably benign Het
Cyp2g1 T C 7: 26,518,910 (GRCm39) probably null Het
Fkbp1b G T 12: 4,883,732 (GRCm39) H88N probably benign Het
Gm4884 A T 7: 40,692,565 (GRCm39) D178V probably damaging Het
Grik5 T C 7: 24,757,969 (GRCm39) T371A probably benign Het
Hydin G A 8: 111,314,412 (GRCm39) G4299S probably null Het
Ibtk A T 9: 85,603,393 (GRCm39) Y537* probably null Het
Ighv8-9 A G 12: 115,432,257 (GRCm39) L18P probably damaging Het
Lbp G T 2: 158,159,477 (GRCm39) K203N probably benign Het
Lilra6 C T 7: 3,917,853 (GRCm39) R97Q probably benign Het
Man1c1 A G 4: 134,303,318 (GRCm39) I392T probably damaging Het
Mcf2l A T 8: 13,059,676 (GRCm39) H727L probably damaging Het
Med7 T A 11: 46,331,865 (GRCm39) F153L probably benign Het
Neurl1b G C 17: 26,657,820 (GRCm39) V253L probably benign Het
Noc2l T C 4: 156,320,511 (GRCm39) S4P probably benign Het
Obscn A C 11: 58,947,805 (GRCm39) F4408C Het
Or1j17 A G 2: 36,578,296 (GRCm39) Y94C possibly damaging Het
Or4f62 A G 2: 111,986,643 (GRCm39) I116V probably benign Het
Orc2 T C 1: 58,506,842 (GRCm39) Q498R probably damaging Het
Oxsm A C 14: 16,242,531 (GRCm38) D79E probably benign Het
Pask G A 1: 93,251,987 (GRCm39) T464I probably benign Het
Pcdha8 A G 18: 37,126,922 (GRCm39) N468S probably damaging Het
Pcm1 T A 8: 41,728,722 (GRCm39) V565E probably damaging Het
Pcsk5 T C 19: 17,771,097 (GRCm39) I67V probably benign Het
Pde4d A G 13: 109,877,064 (GRCm39) D139G probably damaging Het
Pdzd8 C T 19: 59,333,245 (GRCm39) E259K Het
Phactr3 T C 2: 177,925,856 (GRCm39) L377P probably damaging Het
Ppargc1b G A 18: 61,444,051 (GRCm39) P387S possibly damaging Het
Prmt7 T G 8: 106,970,435 (GRCm39) V426G probably damaging Het
Rab39 G C 9: 53,597,915 (GRCm39) P117A probably damaging Het
Rab40b G A 11: 121,254,352 (GRCm39) R62* probably null Het
Rpf1 T G 3: 146,213,937 (GRCm39) H220P probably damaging Het
Rps6kl1 A G 12: 85,186,280 (GRCm39) I276T probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Sbf2 T C 7: 110,040,702 (GRCm39) Q375R possibly damaging Het
Sestd1 G A 2: 77,075,421 (GRCm39) probably benign Het
Slc38a6 T A 12: 73,376,767 (GRCm39) Y140* probably null Het
Smpd1 C A 7: 105,203,750 (GRCm39) H4Q possibly damaging Het
Sox8 A T 17: 25,786,634 (GRCm39) S356R probably damaging Het
Tapbpl A G 6: 125,205,319 (GRCm39) L209P probably damaging Het
Txndc11 A G 16: 10,893,498 (GRCm39) L744P probably benign Het
Ush2a C T 1: 187,995,646 (GRCm39) P139L probably benign Het
Vmn1r54 A T 6: 90,246,092 (GRCm39) N2I probably damaging Het
Vmn2r112 C T 17: 22,824,223 (GRCm39) Q493* probably null Het
Zfp40 A T 17: 23,396,129 (GRCm39) S153T possibly damaging Het
Zfp523 G A 17: 28,416,840 (GRCm39) A109T probably benign Het
Zfp78 A T 7: 6,382,182 (GRCm39) N411Y probably benign 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
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
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'- GTGGTCGTGTTACCTTTCCCAG -3'
(R):5'- TGTCGATACAAACTCAGGGCC -3'

Sequencing Primer
(F):5'- TTTCCCAGACACCCCAGGG -3'
(R):5'- TACAAACTCAGGGCCATGGGTTG -3'
Posted On 2022-05-16