Incidental Mutation 'R7385:Vps50'
ID 573017
Institutional Source Beutler Lab
Gene Symbol Vps50
Ensembl Gene ENSMUSG00000001376
Gene Name VPS50 EARP/GARPII complex subunit
Synonyms Ccdc132, 1700034M03Rik, 8430415E05Rik
MMRRC Submission 045467-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.890) question?
Stock # R7385 (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 A at 3602708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 942 (S942T)
Ref Sequence ENSEMBL: ENSMUSP00000001412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001412] [ENSMUST00000164052] [ENSMUST00000170873]
AlphaFold Q8CI71
Predicted Effect probably benign
Transcript: ENSMUST00000001412
AA Change: S942T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000001412
Gene: ENSMUSG00000001376
AA Change: S942T

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
SMART Domains Protein: ENSMUSP00000125872
Gene: ENSMUSG00000001376

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
SMART Domains Protein: ENSMUSP00000128323
Gene: ENSMUSG00000001376

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
Meta Mutation Damage Score 0.0971 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 T C 1: 179,580,946 (GRCm39) E1752G possibly damaging Het
Aqp3 T C 4: 41,095,178 (GRCm39) T68A probably damaging Het
Arhgap40 A G 2: 158,385,147 (GRCm39) K463R probably damaging Het
Asb10 A T 5: 24,738,736 (GRCm39) C440* probably null Het
Bach1 A G 16: 87,526,385 (GRCm39) T616A probably damaging Het
Braf T A 6: 39,642,042 (GRCm39) probably null Het
Cacna1s A T 1: 136,020,371 (GRCm39) N803Y probably damaging Het
Cald1 A G 6: 34,663,000 (GRCm39) E21G probably damaging Het
Caskin1 G T 17: 24,722,898 (GRCm39) G589C probably damaging Het
Cdc37l1 T C 19: 28,968,071 (GRCm39) probably null Het
Cntnap5b G A 1: 100,306,815 (GRCm39) G844D probably damaging Het
Col5a1 T C 2: 27,914,762 (GRCm39) L1615P unknown Het
Cpt1a C A 19: 3,430,155 (GRCm39) P672T probably damaging Het
Defb22 A G 2: 152,328,117 (GRCm39) Y23H probably damaging Het
Depdc1b G C 13: 108,500,166 (GRCm39) K226N probably damaging Het
Derl2 A G 11: 70,909,764 (GRCm39) probably benign Het
Dnaja2 T C 8: 86,265,982 (GRCm39) T368A probably benign Het
Dsg3 C A 18: 20,673,254 (GRCm39) T975K possibly damaging Het
Eif4enif1 T A 11: 3,170,269 (GRCm39) D107E probably damaging Het
Fut11 A G 14: 20,746,325 (GRCm39) D389G probably damaging Het
Gopc C T 10: 52,225,328 (GRCm39) G299E probably damaging Het
Gprin1 T C 13: 54,886,423 (GRCm39) D617G probably benign Het
Grin2d A G 7: 45,506,960 (GRCm39) V505A probably damaging Het
Heatr6 T C 11: 83,650,161 (GRCm39) Y206H probably damaging Het
Hhex C A 19: 37,425,713 (GRCm39) N147K probably damaging Het
Igkv4-80 G A 6: 68,993,699 (GRCm39) S64F probably damaging Het
Jakmip3 A G 7: 138,625,068 (GRCm39) K360R possibly damaging Het
Kat5 AG A 19: 5,658,297 (GRCm39) probably null Het
Kat5 T A 19: 5,658,302 (GRCm39) N191I probably benign Het
Kifc5b A G 17: 27,144,597 (GRCm39) D572G probably damaging Het
Lrp5 C A 19: 3,662,197 (GRCm39) probably null Het
Lrtm1 A G 14: 28,749,673 (GRCm39) M345V probably benign Het
Mbd5 T C 2: 49,162,461 (GRCm39) V981A probably benign Het
Mier3 G A 13: 111,841,783 (GRCm39) G115S possibly damaging Het
Mrgprd A G 7: 144,875,261 (GRCm39) N44S probably damaging Het
Mrps10 C A 17: 47,689,146 (GRCm39) P181Q probably damaging Het
Myot T A 18: 44,470,075 (GRCm39) C17* probably null Het
Myt1 A G 2: 181,409,498 (GRCm39) probably null Het
Ncoa6 C A 2: 155,249,721 (GRCm39) L1194F probably damaging Het
Or4d11 T C 19: 12,013,363 (GRCm39) T248A probably benign Het
Or4d6 T C 19: 12,086,061 (GRCm39) N57S probably damaging Het
Or4e5 T C 14: 52,727,638 (GRCm39) Y261C probably damaging Het
Or7a39 C A 10: 78,715,288 (GRCm39) T94K probably damaging Het
Or7e165 T A 9: 19,694,507 (GRCm39) I26N possibly damaging Het
Osbpl6 G A 2: 76,379,794 (GRCm39) G128E probably damaging Het
P3h3 A T 6: 124,832,233 (GRCm39) Y218N probably damaging Het
Paxip1 A G 5: 27,986,418 (GRCm39) probably null Het
Pdia5 T C 16: 35,250,284 (GRCm39) Y225C probably damaging Het
Pik3c2g T G 6: 139,801,079 (GRCm39) M526R Het
Prox1 A G 1: 189,894,323 (GRCm39) F41L probably benign Het
Psd3 A T 8: 68,453,408 (GRCm39) F284I probably damaging Het
Rev3l T A 10: 39,699,678 (GRCm39) C1392S probably benign Het
Rfxank A T 8: 70,587,285 (GRCm39) V212E probably damaging Het
Ros1 T C 10: 52,031,222 (GRCm39) D482G probably benign Het
Sat2 A T 11: 69,513,763 (GRCm39) I94F probably damaging Het
Scarf2 T C 16: 17,621,702 (GRCm39) L384P probably damaging Het
Sec14l2 C A 11: 4,066,750 (GRCm39) E21* probably null Het
Slitrk5 T A 14: 111,918,131 (GRCm39) V585E probably benign Het
Spata31h1 T A 10: 82,123,571 (GRCm39) E3146D probably benign Het
Spata31h1 T C 10: 82,123,729 (GRCm39) S3094G probably benign Het
Tas2r130 T A 6: 131,607,226 (GRCm39) M190L probably benign Het
Ticrr G A 7: 79,341,597 (GRCm39) S1061N possibly damaging Het
Tlr9 C A 9: 106,102,463 (GRCm39) H585N probably damaging Het
Tmem219 A T 7: 126,495,947 (GRCm39) I142N probably damaging Het
Tnni2 A G 7: 141,996,915 (GRCm39) N8S probably benign Het
Tnpo2 G A 8: 85,776,748 (GRCm39) R485H probably damaging Het
Ttc8 A G 12: 98,908,547 (GRCm39) E72G possibly damaging Het
Upf1 A G 8: 70,793,268 (GRCm39) Y297H probably damaging Het
Vmn1r4 A G 6: 56,933,721 (GRCm39) K75R probably damaging Het
Vmn2r78 G A 7: 86,571,633 (GRCm39) G481D probably benign Het
Vmn2r96 A G 17: 18,803,302 (GRCm39) Y404C probably damaging Het
Xkr7 C A 2: 152,895,983 (GRCm39) S279* probably null Het
Zan G A 5: 137,432,416 (GRCm39) Q2294* probably null Het
Zan T C 5: 137,448,753 (GRCm39) Y1700C unknown 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
R6773:Vps50 UTSW 6 3,592,560 (GRCm39) missense probably benign 0.25
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
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'- CTTCCAGCACTCTCATTGGG -3'
(R):5'- CTGGAGCATATAAAAGTCACTTGAG -3'

Sequencing Primer
(F):5'- AGCACTCTCATTGGGCCACAG -3'
(R):5'- CACCACACACAGTTGAGTATTTTC -3'
Posted On 2019-09-13