Incidental Mutation 'R8251:Vps36'
ID 640243
Institutional Source Beutler Lab
Gene Symbol Vps36
Ensembl Gene ENSMUSG00000031479
Gene Name vacuolar protein sorting 36
Synonyms 2210415M20Rik, 1700010A24Rik, 2810408E15Rik, Eap45
MMRRC Submission 067677-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.932) question?
Stock # R8251 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 22682825-22710859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22682932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 16 (T16A)
Ref Sequence ENSEMBL: ENSMUSP00000033866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033866]
AlphaFold Q91XD6
PDB Structure The complex structure between the mouse EAP45-GLUE domain and ubiquitin [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000033866
AA Change: T16A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000033866
Gene: ENSMUSG00000031479
AA Change: T16A

DomainStartEndE-ValueType
Pfam:Vps36_ESCRT-II 2 88 1e-19 PFAM
Pfam:EAP30 154 369 1.4e-46 PFAM
Meta Mutation Damage Score 0.1040 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A similar protein complex in rat is associated with RNA polymerase elongation factor II. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A T 9: 103,968,906 (GRCm39) D463V possibly damaging Het
Adamtsl4 C T 3: 95,591,884 (GRCm39) R68Q probably damaging Het
Ankrd12 A T 17: 66,291,554 (GRCm39) M1293K possibly damaging Het
Arhgap21 T C 2: 20,854,221 (GRCm39) T1724A probably benign Het
C1qtnf12 T C 4: 156,050,916 (GRCm39) I295T probably damaging Het
Cacna1s G T 1: 136,014,461 (GRCm39) G623W probably damaging Het
Cemip2 T C 19: 21,784,765 (GRCm39) V416A possibly damaging Het
Cenpe T A 3: 134,957,445 (GRCm39) probably null Het
Cep85l A T 10: 53,157,450 (GRCm39) I751N probably damaging Het
Corin T A 5: 72,514,269 (GRCm39) D468V probably damaging Het
Ctsr A G 13: 61,310,592 (GRCm39) V51A probably damaging Het
Dnah14 A C 1: 181,492,430 (GRCm39) E1630A probably damaging Het
Dsg4 C A 18: 20,604,221 (GRCm39) A896E probably damaging Het
Ear2 T C 14: 44,340,477 (GRCm39) L45P probably benign Het
Fshr T G 17: 89,507,913 (GRCm39) D43A probably benign Het
Gata6 G A 18: 11,054,670 (GRCm39) G200S probably benign Het
Gnaq T A 19: 16,312,419 (GRCm39) M227K probably damaging Het
Ifit1bl1 T C 19: 34,572,232 (GRCm39) Q75R possibly damaging Het
Impg2 A G 16: 56,079,960 (GRCm39) E479G possibly damaging Het
Ints7 C T 1: 191,353,545 (GRCm39) P957L unknown Het
Jmjd1c T C 10: 67,075,068 (GRCm39) V73A noncoding transcript Het
Kansl1 A G 11: 104,315,186 (GRCm39) I284T probably benign Het
Kcnj9 A G 1: 172,154,089 (GRCm39) S12P probably benign Het
Krt16 A G 11: 100,139,196 (GRCm39) probably null Het
Lrguk A T 6: 34,093,374 (GRCm39) T632S probably benign Het
Man2b1 G A 8: 85,821,758 (GRCm39) V687M probably damaging Het
Mroh5 T C 15: 73,655,002 (GRCm39) E653G probably benign Het
Nabp1 A T 1: 51,516,737 (GRCm39) S44T probably benign Het
Nt5dc3 C A 10: 86,656,091 (GRCm39) H256Q probably damaging Het
Or1j15 A C 2: 36,459,467 (GRCm39) N286H probably damaging Het
Or4a81 A T 2: 89,619,567 (GRCm39) I43N probably damaging Het
Or5p50 A G 7: 107,421,776 (GRCm39) I300T probably damaging Het
Pkd2 T C 5: 104,646,353 (GRCm39) V720A probably benign Het
Pnpla6 T A 8: 3,582,399 (GRCm39) N706K probably benign Het
Polr1b C A 2: 128,965,086 (GRCm39) P724Q probably damaging Het
Rbpjl A G 2: 164,255,854 (GRCm39) E366G probably damaging Het
Runx1t1 A G 4: 13,846,947 (GRCm39) T244A possibly damaging Het
Slitrk3 C T 3: 72,956,729 (GRCm39) R681H possibly damaging Het
Slu7 A G 11: 43,330,128 (GRCm39) Y185C probably damaging Het
Snupn T A 9: 56,888,137 (GRCm39) F231L probably damaging Het
Srpk2 G A 5: 23,729,266 (GRCm39) P458S probably benign Het
St3gal5 T A 6: 72,126,144 (GRCm39) F330I probably benign Het
Taf3 T C 2: 9,922,962 (GRCm39) D878G possibly damaging Het
Tex44 A G 1: 86,354,936 (GRCm39) N282D probably benign Het
Tmem126a T C 7: 90,100,094 (GRCm39) I150V probably benign Het
Trbv21 A G 6: 41,179,540 (GRCm39) probably benign Het
Vmn2r70 A T 7: 85,215,186 (GRCm39) L116* probably null Het
Wdr17 C A 8: 55,110,267 (GRCm39) G837W probably damaging Het
Zfp397 T C 18: 24,093,361 (GRCm39) V282A probably benign Het
Other mutations in Vps36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02577:Vps36 APN 8 22,701,632 (GRCm39) nonsense probably null
IGL03035:Vps36 APN 8 22,708,431 (GRCm39) missense probably benign 0.10
R0270:Vps36 UTSW 8 22,700,472 (GRCm39) missense possibly damaging 0.85
R0532:Vps36 UTSW 8 22,708,261 (GRCm39) missense probably benign 0.03
R0966:Vps36 UTSW 8 22,696,833 (GRCm39) nonsense probably null
R1452:Vps36 UTSW 8 22,708,226 (GRCm39) critical splice acceptor site probably null
R1880:Vps36 UTSW 8 22,703,578 (GRCm39) critical splice donor site probably null
R2127:Vps36 UTSW 8 22,708,305 (GRCm39) critical splice donor site probably null
R2128:Vps36 UTSW 8 22,708,305 (GRCm39) critical splice donor site probably null
R3708:Vps36 UTSW 8 22,682,899 (GRCm39) missense probably benign
R4583:Vps36 UTSW 8 22,708,436 (GRCm39) missense probably benign 0.22
R4917:Vps36 UTSW 8 22,708,280 (GRCm39) missense possibly damaging 0.93
R6354:Vps36 UTSW 8 22,695,771 (GRCm39) missense probably damaging 1.00
R6597:Vps36 UTSW 8 22,692,320 (GRCm39) missense probably benign
R7207:Vps36 UTSW 8 22,701,623 (GRCm39) missense probably benign 0.28
Z1177:Vps36 UTSW 8 22,682,846 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CAACAAGTTTGGCAGTGACAG -3'
(R):5'- AATCATCACCGGTCCAGCAG -3'

Sequencing Primer
(F):5'- TTTGGCAGTGACAGGGGAGC -3'
(R):5'- CCACAAGGCGGAACTGTAC -3'
Posted On 2020-07-28