Incidental Mutation 'R6773:Vps50'
ID 532237
Institutional Source Beutler Lab
Gene Symbol Vps50
Ensembl Gene ENSMUSG00000001376
Gene Name VPS50 EARP/GARPII complex subunit
Synonyms Ccdc132, 1700034M03Rik, 8430415E05Rik
MMRRC Submission 044889-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.890) question?
Stock # R6773 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 3498393-3603531 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3592560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 731 (V731A)
Ref Sequence ENSEMBL: ENSMUSP00000128323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001412] [ENSMUST00000164052] [ENSMUST00000170873]
AlphaFold Q8CI71
Predicted Effect probably benign
Transcript: ENSMUST00000001412
AA Change: V731A

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000001412
Gene: ENSMUSG00000001376
AA Change: V731A

DomainStartEndE-ValueType
Pfam:DUF2450 54 345 2.5e-112 PFAM
low complexity region 659 676 N/A INTRINSIC
Pfam:DUF2451 723 957 2.2e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164052
AA Change: V731A

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125872
Gene: ENSMUSG00000001376
AA Change: V731A

DomainStartEndE-ValueType
Pfam:DUF2450 54 345 5.2e-111 PFAM
low complexity region 659 676 N/A INTRINSIC
Pfam:DUF2451 723 929 1.1e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170873
AA Change: V731A

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128323
Gene: ENSMUSG00000001376
AA Change: V731A

DomainStartEndE-ValueType
Pfam:DUF2450 54 345 5.3e-111 PFAM
low complexity region 659 676 N/A INTRINSIC
Pfam:DUF2451 723 933 2.6e-90 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.8%
Validation Efficiency 98% (44/45)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrm1b T A 3: 92,336,556 (GRCm39) I49F probably damaging Het
Aqp6 A G 15: 99,500,558 (GRCm39) D161G probably damaging Het
Aqr A T 2: 113,979,477 (GRCm39) N319K possibly damaging Het
Asns C A 6: 7,676,284 (GRCm39) R424L probably benign Het
Atp4a T C 7: 30,414,802 (GRCm39) V197A probably damaging Het
Ccdc70 A G 8: 22,463,321 (GRCm39) E37G probably damaging Het
Ccdc88b A T 19: 6,826,409 (GRCm39) V1102E possibly damaging Het
Cd82 G A 2: 93,252,221 (GRCm39) A130V probably benign Het
Cfap46 T C 7: 139,222,477 (GRCm39) probably benign Het
Cnot6l A C 5: 96,242,158 (GRCm39) C188W probably damaging Het
Cxcr6 A T 9: 123,639,355 (GRCm39) T119S possibly damaging Het
Dok7 G A 5: 35,234,528 (GRCm39) R193H probably damaging Het
Dpy19l1 A T 9: 24,352,068 (GRCm39) S386T probably damaging Het
Frem3 A C 8: 81,338,444 (GRCm39) T246P probably damaging Het
Gm29666 A T 15: 84,798,360 (GRCm39) I67K unknown Het
Gpr153 T A 4: 152,363,757 (GRCm39) V59E probably damaging Het
Inpp4b G A 8: 82,583,249 (GRCm39) probably benign Het
Kcnj13 T C 1: 87,314,482 (GRCm39) I247V possibly damaging Het
Klri1 C T 6: 129,680,510 (GRCm39) V91M possibly damaging Het
M1ap T A 6: 82,945,061 (GRCm39) D118E probably damaging Het
Map4 T C 9: 109,863,993 (GRCm39) V406A probably benign Het
Nedd4l T C 18: 65,300,622 (GRCm39) V369A probably benign Het
Or5ac24 A T 16: 59,165,579 (GRCm39) L162I probably damaging Het
Otud4 A G 8: 80,370,435 (GRCm39) Y71C possibly damaging Het
Plcl1 A G 1: 55,790,461 (GRCm39) N1044D probably benign Het
Ppp4r3b T A 11: 29,155,639 (GRCm39) M114K probably benign Het
Prune1 T C 3: 95,171,082 (GRCm39) D114G probably damaging Het
Rad54l2 A T 9: 106,570,516 (GRCm39) V1268D probably benign Het
Rbbp6 A G 7: 122,598,578 (GRCm39) probably benign Het
Rimbp3 A T 16: 17,026,879 (GRCm39) E101V probably damaging Het
Rit1 C T 3: 88,633,676 (GRCm39) probably null Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Homo
Shisa9 A G 16: 11,802,892 (GRCm39) T150A probably damaging Het
Smpdl3a T C 10: 57,678,533 (GRCm39) V112A probably damaging Het
Strada T A 11: 106,055,733 (GRCm39) I305F probably damaging Het
Svep1 C T 4: 58,049,146 (GRCm39) E3454K possibly damaging Het
Tfap2a T A 13: 40,882,230 (GRCm39) N25I probably damaging Het
Tmem259 T C 10: 79,813,422 (GRCm39) D519G possibly damaging Het
Tns1 T C 1: 73,958,866 (GRCm39) Q445R probably damaging Het
Topbp1 A G 9: 103,220,891 (GRCm39) D20G possibly damaging Het
Trbv5 G T 6: 41,039,551 (GRCm39) W52L probably damaging Het
Trpc6 A T 9: 8,634,058 (GRCm39) H379L probably damaging Het
Tulp1 T C 17: 28,581,876 (GRCm39) K193E probably damaging Het
Unc80 T C 1: 66,690,702 (GRCm39) V2459A probably benign Het
Other mutations in Vps50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Vps50 APN 6 3,602,670 (GRCm39) missense probably benign 0.00
IGL00764:Vps50 APN 6 3,532,177 (GRCm39) nonsense probably null
IGL00844:Vps50 APN 6 3,532,177 (GRCm39) nonsense probably null
IGL00845:Vps50 APN 6 3,532,177 (GRCm39) nonsense probably null
IGL00850:Vps50 APN 6 3,532,177 (GRCm39) nonsense probably null
IGL01417:Vps50 APN 6 3,522,377 (GRCm39) splice site probably benign
IGL01648:Vps50 APN 6 3,498,545 (GRCm39) missense probably benign 0.25
IGL03238:Vps50 APN 6 3,594,771 (GRCm39) missense possibly damaging 0.60
IGL03285:Vps50 APN 6 3,555,011 (GRCm39) missense possibly damaging 0.71
R0309:Vps50 UTSW 6 3,536,853 (GRCm39) missense possibly damaging 0.90
R0513:Vps50 UTSW 6 3,520,210 (GRCm39) missense probably damaging 1.00
R0714:Vps50 UTSW 6 3,571,105 (GRCm39) missense probably benign 0.05
R1066:Vps50 UTSW 6 3,533,565 (GRCm39) missense probably damaging 1.00
R1210:Vps50 UTSW 6 3,594,884 (GRCm39) missense probably damaging 0.99
R1420:Vps50 UTSW 6 3,588,007 (GRCm39) nonsense probably null
R1437:Vps50 UTSW 6 3,517,852 (GRCm39) nonsense probably null
R1451:Vps50 UTSW 6 3,565,628 (GRCm39) missense possibly damaging 0.77
R1470:Vps50 UTSW 6 3,517,777 (GRCm39) splice site probably benign
R1576:Vps50 UTSW 6 3,545,568 (GRCm39) missense possibly damaging 0.60
R1599:Vps50 UTSW 6 3,565,537 (GRCm39) missense probably benign 0.00
R1860:Vps50 UTSW 6 3,520,279 (GRCm39) critical splice donor site probably null
R2055:Vps50 UTSW 6 3,522,265 (GRCm39) missense probably benign 0.01
R2109:Vps50 UTSW 6 3,555,379 (GRCm39) missense probably damaging 0.99
R3408:Vps50 UTSW 6 3,600,212 (GRCm39) missense probably damaging 1.00
R3732:Vps50 UTSW 6 3,519,243 (GRCm39) synonymous silent
R3764:Vps50 UTSW 6 3,588,063 (GRCm39) missense probably damaging 1.00
R3828:Vps50 UTSW 6 3,533,500 (GRCm39) missense probably benign
R4092:Vps50 UTSW 6 3,551,037 (GRCm39) missense probably benign
R4385:Vps50 UTSW 6 3,516,694 (GRCm39) missense probably benign 0.00
R4588:Vps50 UTSW 6 3,562,306 (GRCm39) missense probably damaging 1.00
R4843:Vps50 UTSW 6 3,536,974 (GRCm39) critical splice donor site probably null
R4978:Vps50 UTSW 6 3,517,808 (GRCm39) missense probably benign
R5368:Vps50 UTSW 6 3,567,739 (GRCm39) missense possibly damaging 0.88
R5867:Vps50 UTSW 6 3,536,965 (GRCm39) missense probably damaging 1.00
R6591:Vps50 UTSW 6 3,504,939 (GRCm39) critical splice donor site probably null
R6626:Vps50 UTSW 6 3,551,101 (GRCm39) nonsense probably null
R6691:Vps50 UTSW 6 3,504,939 (GRCm39) critical splice donor site probably null
R6707:Vps50 UTSW 6 3,545,583 (GRCm39) missense probably damaging 1.00
R6751:Vps50 UTSW 6 3,600,274 (GRCm39) missense probably damaging 1.00
R6867:Vps50 UTSW 6 3,517,835 (GRCm39) missense probably benign 0.16
R6883:Vps50 UTSW 6 3,498,513 (GRCm39) unclassified probably benign
R6963:Vps50 UTSW 6 3,592,577 (GRCm39) critical splice donor site probably null
R7147:Vps50 UTSW 6 3,567,750 (GRCm39) nonsense probably null
R7150:Vps50 UTSW 6 3,578,854 (GRCm39) missense possibly damaging 0.89
R7167:Vps50 UTSW 6 3,600,256 (GRCm39) missense probably damaging 1.00
R7235:Vps50 UTSW 6 3,588,078 (GRCm39) missense probably benign 0.01
R7385:Vps50 UTSW 6 3,602,708 (GRCm39) missense probably benign 0.00
R7662:Vps50 UTSW 6 3,562,304 (GRCm39) missense probably damaging 1.00
R7782:Vps50 UTSW 6 3,532,202 (GRCm39) critical splice donor site probably null
R8188:Vps50 UTSW 6 3,562,297 (GRCm39) nonsense probably null
R8232:Vps50 UTSW 6 3,600,139 (GRCm39) missense probably damaging 1.00
R8535:Vps50 UTSW 6 3,565,612 (GRCm39) missense possibly damaging 0.95
R8808:Vps50 UTSW 6 3,522,338 (GRCm39) nonsense probably null
R8845:Vps50 UTSW 6 3,504,926 (GRCm39) missense probably benign
R8889:Vps50 UTSW 6 3,536,967 (GRCm39) missense probably damaging 1.00
R8892:Vps50 UTSW 6 3,536,967 (GRCm39) missense probably damaging 1.00
R8911:Vps50 UTSW 6 3,516,710 (GRCm39) missense probably benign
R9089:Vps50 UTSW 6 3,536,884 (GRCm39) missense probably benign 0.02
R9116:Vps50 UTSW 6 3,588,091 (GRCm39) splice site probably benign
R9381:Vps50 UTSW 6 3,592,433 (GRCm39) missense probably benign
R9440:Vps50 UTSW 6 3,516,724 (GRCm39) missense probably benign 0.01
R9485:Vps50 UTSW 6 3,592,557 (GRCm39) missense probably damaging 0.99
R9585:Vps50 UTSW 6 3,600,348 (GRCm39) missense probably benign 0.03
R9645:Vps50 UTSW 6 3,516,706 (GRCm39) missense possibly damaging 0.94
R9761:Vps50 UTSW 6 3,519,218 (GRCm39) missense probably damaging 1.00
R9796:Vps50 UTSW 6 3,562,300 (GRCm39) missense probably damaging 1.00
X0025:Vps50 UTSW 6 3,571,012 (GRCm39) missense probably benign 0.02
X0062:Vps50 UTSW 6 3,594,833 (GRCm39) missense probably benign
Z1176:Vps50 UTSW 6 3,578,792 (GRCm39) critical splice acceptor site probably null
Z1177:Vps50 UTSW 6 3,562,312 (GRCm39) missense probably damaging 1.00
Z1177:Vps50 UTSW 6 3,555,367 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ACTATTAGACTTGCTGTTTCAGGTG -3'
(R):5'- CATGGATTCTACCAGGAAGCAG -3'

Sequencing Primer
(F):5'- GTGTGTGTGCTGTCTTTCCAG -3'
(R):5'- TGGCAATCTCTAGGCCAATG -3'
Posted On 2018-08-29