Incidental Mutation 'R8188:Vps50'
ID 634972
Institutional Source Beutler Lab
Gene Symbol Vps50
Ensembl Gene ENSMUSG00000001376
Gene Name VPS50 EARP/GARPII complex subunit
Synonyms Ccdc132, 1700034M03Rik, 8430415E05Rik
MMRRC Submission 067611-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.890) question?
Stock # R8188 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 3498393-3603531 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 3562297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 464 (L464*)
Ref Sequence ENSEMBL: ENSMUSP00000001412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001412] [ENSMUST00000164052] [ENSMUST00000170873]
AlphaFold Q8CI71
Predicted Effect probably null
Transcript: ENSMUST00000001412
AA Change: L464*
SMART Domains Protein: ENSMUSP00000001412
Gene: ENSMUSG00000001376
AA Change: L464*

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 null
Transcript: ENSMUST00000164052
AA Change: L464*
SMART Domains Protein: ENSMUSP00000125872
Gene: ENSMUSG00000001376
AA Change: L464*

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 null
Transcript: ENSMUST00000170873
AA Change: L464*
SMART Domains Protein: ENSMUSP00000128323
Gene: ENSMUSG00000001376
AA Change: L464*

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 C G 4: 40,180,284 (GRCm39) A395G probably benign Het
Adgrf5 G A 17: 43,741,503 (GRCm39) C380Y probably damaging Het
Astn2 T C 4: 65,977,418 (GRCm39) T422A unknown Het
Baz1b G T 5: 135,233,916 (GRCm39) V148F probably benign Het
Bicd1 A C 6: 149,451,854 (GRCm39) S823R probably damaging Het
Bltp3b C T 10: 89,647,928 (GRCm39) T1330M possibly damaging Het
Blvra A C 2: 126,937,047 (GRCm39) S167R probably damaging Het
Camsap2 G T 1: 136,225,132 (GRCm39) probably null Het
Card14 T C 11: 119,228,623 (GRCm39) S650P probably damaging Het
Ccdc121rt2 A G 5: 112,597,993 (GRCm39) D180G possibly damaging Het
Cdh2 A G 18: 16,781,593 (GRCm39) I166T probably damaging Het
Cdnf T C 2: 3,514,228 (GRCm39) V22A probably benign Het
Cfhr4 T A 1: 139,625,868 (GRCm39) I869F probably damaging Het
Chd2 T A 7: 73,079,504 (GRCm39) K1799* probably null Het
Col20a1 G A 2: 180,658,126 (GRCm39) probably null Het
Cyp4a31 T C 4: 115,426,943 (GRCm39) I182T probably benign Het
Dap3 A T 3: 88,843,543 (GRCm39) F25L probably benign Het
Dcc T A 18: 71,943,928 (GRCm39) Y241F probably benign Het
Ddx46 A G 13: 55,814,029 (GRCm39) I662V possibly damaging Het
Dzip3 T C 16: 48,772,499 (GRCm39) D390G probably damaging Het
Eif1 A G 11: 100,211,624 (GRCm39) D55G probably benign Het
Exosc5 T A 7: 25,358,790 (GRCm39) S44T probably damaging Het
Fat2 A G 11: 55,163,997 (GRCm39) V3086A probably damaging Het
Fcamr T A 1: 130,730,665 (GRCm39) probably null Het
Gcg T C 2: 62,309,004 (GRCm39) D50G probably damaging Het
Gm7298 A G 6: 121,763,537 (GRCm39) probably null Het
Hfe A G 13: 23,892,175 (GRCm39) V63A probably damaging Het
Hoxd11 T A 2: 74,514,298 (GRCm39) I276N probably damaging Het
Htt T C 5: 34,919,287 (GRCm39) S13P probably benign Het
Il12a T A 3: 68,598,872 (GRCm39) C18S unknown Het
Itk G T 11: 46,222,776 (GRCm39) Y564* probably null Het
Lrrc46 A T 11: 96,931,705 (GRCm39) L39Q probably damaging Het
Myom3 T A 4: 135,507,231 (GRCm39) L537Q probably damaging Het
Nrap A C 19: 56,325,010 (GRCm39) Y1234* probably null Het
Or51q1 T C 7: 103,628,743 (GRCm39) S121P probably damaging Het
Or8b9 A T 9: 37,766,407 (GRCm39) M98L probably benign Het
Parn T C 16: 13,359,020 (GRCm39) D574G probably benign Het
Pbrm1 A G 14: 30,789,773 (GRCm39) I807V probably damaging Het
Pclo T A 5: 14,725,193 (GRCm39) S1350R unknown Het
Pira13 T C 7: 3,826,126 (GRCm39) H289R unknown Het
Plaa T C 4: 94,474,586 (GRCm39) Q272R probably damaging Het
Rfx6 T A 10: 51,594,292 (GRCm39) I174N probably benign Het
Ripk2 T A 4: 16,139,218 (GRCm39) K226N probably damaging Het
Scgb1b2 T C 7: 30,990,946 (GRCm39) D54G possibly damaging Het
Slc45a4 T C 15: 73,456,383 (GRCm39) Y599C probably benign Het
Slc7a13 T C 4: 19,819,082 (GRCm39) V94A probably benign Het
Slc7a8 A G 14: 54,972,579 (GRCm39) F281L probably benign Het
Slco4c1 T A 1: 96,772,261 (GRCm39) T243S probably damaging Het
Smim30 C T 6: 13,870,541 (GRCm39) G57E probably damaging Het
Stat5b A G 11: 100,692,262 (GRCm39) I174T probably damaging Het
Styk1 C A 6: 131,281,848 (GRCm39) V257L probably benign Het
Tmem268 T C 4: 63,498,209 (GRCm39) F210L probably damaging Het
Ugt2b35 T A 5: 87,149,302 (GRCm39) S184R probably damaging Het
Zfhx2 A T 14: 55,301,898 (GRCm39) S2029T probably benign Het
Zfp235 T A 7: 23,841,296 (GRCm39) F572I probably damaging Het
Zfp280d T C 9: 72,267,615 (GRCm39) I766T probably benign Het
Zfr T G 15: 12,171,904 (GRCm39) C933W probably damaging 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
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
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'- AGCTAACAGAAGCCAGCGTG -3'
(R):5'- CAGTGGATAATTCCTACAAAAGGG -3'

Sequencing Primer
(F):5'- CTAACAGAAGCCAGCGTGTGTAG -3'
(R):5'- TTCCTACAAAAGGGCCTGCTAGG -3'
Posted On 2020-07-13