Incidental Mutation 'R6597:Vps36'
ID524939
Institutional Source Beutler Lab
Gene Symbol Vps36
Ensembl Gene ENSMUSG00000031479
Gene Namevacuolar protein sorting 36
SynonymsEap45, 2810408E15Rik, 1700010A24Rik, 2210415M20Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.941) question?
Stock #R6597 (G1)
Quality Score225.009
Status Validated
Chromosome8
Chromosomal Location22192809-22220843 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 22202304 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 66 (I66V)
Ref Sequence ENSEMBL: ENSMUSP00000033866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033866]
PDB Structure
The complex structure between the mouse EAP45-GLUE domain and ubiquitin [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000033866
AA Change: I66V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033866
Gene: ENSMUSG00000031479
AA Change: I66V

DomainStartEndE-ValueType
Pfam:Vps36_ESCRT-II 2 88 1e-19 PFAM
Pfam:EAP30 154 369 1.4e-46 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730559C18Rik G T 1: 136,226,189 A87E probably damaging Het
A2m A G 6: 121,648,121 Y486C probably damaging Het
Asb17 A T 3: 153,844,684 T118S probably damaging Het
Atl2 T A 17: 79,852,766 D293V possibly damaging Het
Bbs1 T A 19: 4,899,306 M242L probably benign Het
Btg1 T A 10: 96,618,320 S65T probably damaging Het
Cfap54 T C 10: 92,999,040 D1101G possibly damaging Het
Cmpk2 G T 12: 26,474,145 V314L possibly damaging Het
Fbxl8 A C 8: 105,268,891 D345A probably benign Het
Gys2 T A 6: 142,456,309 H268L probably benign Het
Hecw1 T A 13: 14,316,818 R117* probably null Het
Hoxd10 G A 2: 74,692,640 A221T probably benign Het
Hspa13 A T 16: 75,765,197 L38Q probably damaging Het
Ipo11 A G 13: 106,865,863 probably null Het
Itgb8 A G 12: 119,173,398 V390A possibly damaging Het
Kalrn T A 16: 34,182,747 I1370F probably damaging Het
Macf1 T C 4: 123,382,692 N6086S probably damaging Het
Ms4a13 T C 19: 11,192,939 T14A probably benign Het
Olfr1164 A G 2: 88,093,069 F289S probably damaging Het
Olfr1500 T A 19: 13,828,457 probably benign Het
Olfr204 C T 16: 59,315,350 R19H probably benign Het
Olfr545 A T 7: 102,494,421 I118N probably damaging Het
Olfr742 T A 14: 50,515,551 C116S probably benign Het
Olfr911-ps1 A T 9: 38,524,004 I91F probably benign Het
Patl2 T A 2: 122,186,164 probably benign Het
Pcdhga7 T C 18: 37,717,006 S689P probably benign Het
Pitpnc1 G T 11: 107,226,232 Y227* probably null Het
Pla2g2e T C 4: 138,880,673 V22A unknown Het
Ppil1 C A 17: 29,261,878 V24F probably benign Het
Prl3b1 G A 13: 27,247,974 probably null Het
Rabgef1 G A 5: 130,191,044 probably null Het
Rhot2 A T 17: 25,840,912 W341R probably damaging Het
Rps6kc1 A T 1: 190,750,184 W286R probably benign Het
Rrs1 A G 1: 9,546,376 T285A probably damaging Het
Shc3 T A 13: 51,442,973 D338V possibly damaging Het
Siglech A T 7: 55,768,463 M60L probably benign Het
Slc12a6 G T 2: 112,352,935 V756F probably damaging Het
Slc43a2 G A 11: 75,571,855 G507D probably damaging Het
Slf1 A G 13: 77,049,129 S789P probably benign Het
Spata31d1d C A 13: 59,726,057 M1221I probably benign Het
Srgap1 T C 10: 121,792,371 N899D probably benign Het
Stag1 G A 9: 100,887,420 M529I probably benign Het
Tekt3 A G 11: 63,081,259 D247G probably benign Het
Tmppe A T 9: 114,405,244 M204L probably benign Het
Tpsg1 G A 17: 25,369,297 probably benign Het
Ttn A G 2: 76,797,971 V6288A probably benign Het
Ttn A T 2: 76,893,100 probably benign Het
Twsg1 C A 17: 65,937,804 V73F probably damaging Het
Vmn2r102 A G 17: 19,694,188 T672A probably damaging Het
Xrcc4 A T 13: 90,000,929 D157E probably benign Het
Zbbx T A 3: 75,136,454 Q162L probably damaging Het
Zfp560 T A 9: 20,348,001 I522L probably benign Het
Zscan20 T C 4: 128,585,746 N984S probably damaging Het
Other mutations in Vps36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02577:Vps36 APN 8 22211616 nonsense probably null
IGL03035:Vps36 APN 8 22218415 missense probably benign 0.10
R0270:Vps36 UTSW 8 22210456 missense possibly damaging 0.85
R0532:Vps36 UTSW 8 22218245 missense probably benign 0.03
R0966:Vps36 UTSW 8 22206817 nonsense probably null
R1452:Vps36 UTSW 8 22218210 critical splice acceptor site probably null
R1880:Vps36 UTSW 8 22213562 critical splice donor site probably null
R2127:Vps36 UTSW 8 22218289 critical splice donor site probably null
R2128:Vps36 UTSW 8 22218289 critical splice donor site probably null
R3708:Vps36 UTSW 8 22192883 missense probably benign
R4583:Vps36 UTSW 8 22218420 missense probably benign 0.22
R4917:Vps36 UTSW 8 22218264 missense possibly damaging 0.93
R6354:Vps36 UTSW 8 22205755 missense probably damaging 1.00
R7207:Vps36 UTSW 8 22211607 missense probably benign 0.28
R8251:Vps36 UTSW 8 22192916 missense probably benign 0.01
Z1177:Vps36 UTSW 8 22192830 start gained probably benign
Predicted Primers PCR Primer
(F):5'- GCTGTGGTAGAACACTTGCC -3'
(R):5'- AAGCGTGCTGTGGAAATACATAC -3'

Sequencing Primer
(F):5'- TAGAACACTTGCCGGGCAG -3'
(R):5'- GAGCAGGGCCCCATCATTTATTATG -3'
Posted On2018-06-22