Incidental Mutation 'R5256:Vps51'
ID 399730
Institutional Source Beutler Lab
Gene Symbol Vps51
Ensembl Gene ENSMUSG00000024797
Gene Name VPS51 GARP complex subunit
Synonyms 3110057M17Rik, 1110014N23Rik
MMRRC Submission 042827-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5256 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6117872-6127217 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6120518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 465 (H465L)
Ref Sequence ENSEMBL: ENSMUSP00000123994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025711] [ENSMUST00000025713] [ENSMUST00000113543] [ENSMUST00000159084] [ENSMUST00000159832] [ENSMUST00000161090] [ENSMUST00000161528] [ENSMUST00000160233] [ENSMUST00000160028] [ENSMUST00000162810] [ENSMUST00000162575] [ENSMUST00000161718]
AlphaFold Q3UVL4
Predicted Effect probably benign
Transcript: ENSMUST00000025711
AA Change: H465L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000025711
Gene: ENSMUSG00000024799
AA Change: H465L

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
Pfam:COG2 56 191 2.6e-10 PFAM
Pfam:DUF2450 62 250 2.3e-14 PFAM
Pfam:Vps51 63 149 1.1e-26 PFAM
Pfam:Dor1 75 246 1.8e-19 PFAM
Pfam:Zw10 83 291 2.2e-8 PFAM
Pfam:Sec5 101 275 6.5e-24 PFAM
low complexity region 377 391 N/A INTRINSIC
low complexity region 523 532 N/A INTRINSIC
low complexity region 743 758 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000025713
SMART Domains Protein: ENSMUSP00000025713
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
Pfam:ERG4_ERG24 7 418 1.6e-141 PFAM
Pfam:DUF1295 250 409 9.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113543
SMART Domains Protein: ENSMUSP00000109171
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
Pfam:ERG4_ERG24 7 373 9.9e-112 PFAM
Pfam:DUF1295 249 396 2.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159084
SMART Domains Protein: ENSMUSP00000124868
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
Pfam:ERG4_ERG24 7 300 6.4e-75 PFAM
Pfam:ERG4_ERG24 292 391 2.2e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159211
Predicted Effect probably benign
Transcript: ENSMUST00000159475
Predicted Effect probably benign
Transcript: ENSMUST00000159832
AA Change: H465L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000123994
Gene: ENSMUSG00000024797
AA Change: H465L

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
Pfam:COG2 56 191 2e-10 PFAM
Pfam:DUF2450 62 250 1.9e-14 PFAM
Pfam:Vps51 63 149 8.3e-27 PFAM
Pfam:Dor1 75 246 1.8e-19 PFAM
Pfam:Sec5 101 275 1.6e-19 PFAM
low complexity region 276 292 N/A INTRINSIC
low complexity region 377 391 N/A INTRINSIC
low complexity region 523 532 N/A INTRINSIC
low complexity region 743 758 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160417
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160354
Predicted Effect probably benign
Transcript: ENSMUST00000161090
SMART Domains Protein: ENSMUSP00000125543
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161528
SMART Domains Protein: ENSMUSP00000123989
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
Pfam:ERG4_ERG24 7 109 5.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160233
SMART Domains Protein: ENSMUSP00000124842
Gene: ENSMUSG00000024797

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160028
SMART Domains Protein: ENSMUSP00000124847
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162549
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162721
Predicted Effect probably benign
Transcript: ENSMUST00000162810
SMART Domains Protein: ENSMUSP00000124825
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
Pfam:ERG4_ERG24 9 124 6.9e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162575
SMART Domains Protein: ENSMUSP00000125586
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:ERG4_ERG24 51 229 5.5e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161718
SMART Domains Protein: ENSMUSP00000124283
Gene: ENSMUSG00000024799

DomainStartEndE-ValueType
Pfam:ERG4_ERG24 1 197 5.7e-86 PFAM
Pfam:DUF1295 46 185 1e-8 PFAM
Meta Mutation Damage Score 0.0845 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency 97% (95/98)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering factor for carriers in retrograde transport from the early and late endosomes to the trans-Golgi network. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730015C16Rik C A 4: 108,705,262 (GRCm39) probably benign Het
Actr1b T C 1: 36,739,173 (GRCm39) H372R probably benign Het
Ampd2 C A 3: 107,986,865 (GRCm39) probably benign Het
Anapc4 A G 5: 53,020,936 (GRCm39) S612G probably benign Het
Arhgef7 T C 8: 11,850,811 (GRCm39) L141P probably damaging Het
Atl1 A G 12: 70,006,107 (GRCm39) D471G probably damaging Het
Atrn A G 2: 130,787,939 (GRCm39) D247G probably benign Het
Bag1 T A 4: 40,948,022 (GRCm39) R61W probably damaging Het
Card10 C T 15: 78,662,451 (GRCm39) R898H probably damaging Het
Cct6b G A 11: 82,655,046 (GRCm39) A3V probably damaging Het
Cfap54 A T 10: 92,770,953 (GRCm39) L2097* probably null Het
Cfap54 T C 10: 92,880,885 (GRCm39) probably null Het
Chd5 T C 4: 152,456,554 (GRCm39) F964L probably benign Het
Cog5 A G 12: 31,936,204 (GRCm39) T584A probably benign Het
Cpa2 T A 6: 30,547,196 (GRCm39) N157K probably damaging Het
Cpeb1 A T 7: 81,001,587 (GRCm39) M440K probably damaging Het
Cracr2a G A 6: 127,580,992 (GRCm39) C56Y probably damaging Het
Ddb2 A C 2: 91,067,073 (GRCm39) L30R probably damaging Het
Dlk1 T A 12: 109,425,697 (GRCm39) I190N probably damaging Het
Dnaaf4 T C 9: 72,879,362 (GRCm39) probably null Het
Dnajc13 T A 9: 104,080,528 (GRCm39) Y851F possibly damaging Het
Dop1a T A 9: 86,397,381 (GRCm39) L895Q probably damaging Het
F7 G A 8: 13,080,763 (GRCm39) C122Y probably damaging Het
Frrs1 T C 3: 116,696,749 (GRCm39) V573A possibly damaging Het
Galnt2l T C 8: 122,997,175 (GRCm39) probably benign Het
Gm17541 A T 12: 4,739,672 (GRCm39) probably benign Het
Gm5519 A T 19: 33,800,576 (GRCm39) H90L probably damaging Het
Gm5526 T A 1: 45,896,569 (GRCm39) noncoding transcript Het
Gm5709 A T 3: 59,509,971 (GRCm39) noncoding transcript Het
Golga4 T A 9: 118,385,569 (GRCm39) V869D possibly damaging Het
Grm7 A T 6: 111,335,182 (GRCm39) Q531L probably benign Het
Hnrnpu C A 1: 178,163,458 (GRCm39) C265F unknown Het
Hoxd3 G A 2: 74,577,211 (GRCm39) V364I possibly damaging Het
Hspb8 T C 5: 116,547,532 (GRCm39) D150G probably damaging Het
Hydin C A 8: 111,313,855 (GRCm39) N4244K possibly damaging Het
Ik A G 18: 36,881,926 (GRCm39) D136G probably benign Het
Il11ra1 T C 4: 41,767,932 (GRCm39) probably benign Het
Jph1 T C 1: 17,161,622 (GRCm39) I347V probably benign Het
Klk1 T A 7: 43,870,985 (GRCm39) probably benign Het
Lmcd1 T A 6: 112,265,087 (GRCm39) probably benign Het
Lnx1 C T 5: 74,846,315 (GRCm39) C45Y probably damaging Het
Macc1 T A 12: 119,410,264 (GRCm39) M344K possibly damaging Het
Madcam1 A G 10: 79,500,779 (GRCm39) E32G possibly damaging Het
Mat2a T C 6: 72,411,316 (GRCm39) D383G probably benign Het
Mpst T A 15: 78,297,849 (GRCm39) I289N probably damaging Het
Myh6 C T 14: 55,190,118 (GRCm39) R1055Q probably damaging Het
Myh7 T C 14: 55,216,965 (GRCm39) K1131E probably damaging Het
Ndrg3 A T 2: 156,773,125 (GRCm39) probably benign Het
Nebl A G 2: 17,438,786 (GRCm39) S209P probably benign Het
Nid2 A G 14: 19,818,276 (GRCm39) probably null Het
Nup188 A T 2: 30,220,761 (GRCm39) S945C probably damaging Het
Or1j21 A G 2: 36,683,685 (GRCm39) M146V probably benign Het
Or5g23 C T 2: 85,438,817 (GRCm39) V146I probably benign Het
Or8c11 A G 9: 38,289,213 (GRCm39) N12S probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Patl2 A G 2: 121,959,368 (GRCm39) L32P probably damaging Het
Pcdh20 T A 14: 88,705,813 (GRCm39) M496L probably benign Het
Pdzd2 A G 15: 12,373,028 (GRCm39) V2369A possibly damaging Het
Pfn2 A G 3: 57,754,812 (GRCm39) V31A probably damaging Het
Plxna4 T C 6: 32,228,007 (GRCm39) N533S probably benign Het
Plxnb1 T C 9: 108,943,661 (GRCm39) F1916S probably damaging Het
Ppp4r3b T C 11: 29,138,293 (GRCm39) F214L probably benign Het
Prox1 T C 1: 189,893,638 (GRCm39) D269G probably benign Het
Rapgef4 T C 2: 71,864,378 (GRCm39) F71S probably damaging Het
Rft1 A G 14: 30,383,243 (GRCm39) I94M probably benign Het
S100z T C 13: 95,615,127 (GRCm39) I13V probably damaging Het
Serhl T A 15: 82,986,835 (GRCm39) V117E probably damaging Het
Shroom1 G A 11: 53,356,334 (GRCm39) R336Q probably benign Het
Sik3 A T 9: 46,123,552 (GRCm39) Q1067L probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc28a1 G A 7: 80,771,869 (GRCm39) V118M probably damaging Het
Slco1a6 T A 6: 142,078,427 (GRCm39) I153F probably benign Het
Ss18l1 T C 2: 179,703,735 (GRCm39) Y323H unknown Het
Susd4 G T 1: 182,719,824 (GRCm39) A480S possibly damaging Het
Syne3 A T 12: 104,942,139 (GRCm39) M1K probably null Het
Synpo2l A T 14: 20,711,082 (GRCm39) S513T probably benign Het
Tat A T 8: 110,724,966 (GRCm39) N388I probably benign Het
Tbc1d1 A G 5: 64,439,352 (GRCm39) Y619C probably damaging Het
Tbk1 G A 10: 121,406,590 (GRCm39) T216M probably damaging Het
Tns1 C T 1: 74,034,585 (GRCm39) probably benign Het
Trbv5 T C 6: 41,039,318 (GRCm39) V9A possibly damaging Het
Trpm5 A G 7: 142,636,040 (GRCm39) Y575H probably damaging Het
Ttn A T 2: 76,570,045 (GRCm39) Y25203* probably null Het
Tubb3 C A 8: 124,148,391 (GRCm39) D441E probably benign Het
Usp33 T A 3: 152,097,333 (GRCm39) C850* probably null Het
Vdac1 G A 11: 52,274,905 (GRCm39) probably null Het
Vmn1r232 T C 17: 21,133,846 (GRCm39) I251M probably damaging Het
Vmn2r11 T G 5: 109,202,658 (GRCm39) I140L probably benign Het
Vmn2r6 A T 3: 64,464,263 (GRCm39) N190K probably benign Het
Zfp318 T G 17: 46,722,995 (GRCm39) I1666S probably benign Het
Zfp446 C T 7: 12,713,231 (GRCm39) R90* probably null Het
Zgrf1 T A 3: 127,396,094 (GRCm39) F547I probably damaging Het
Other mutations in Vps51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03095:Vps51 APN 19 6,120,078 (GRCm39) missense probably damaging 1.00
R0238:Vps51 UTSW 19 6,121,467 (GRCm39) nonsense probably null
R0238:Vps51 UTSW 19 6,121,467 (GRCm39) nonsense probably null
R0239:Vps51 UTSW 19 6,121,467 (GRCm39) nonsense probably null
R0239:Vps51 UTSW 19 6,121,467 (GRCm39) nonsense probably null
R1533:Vps51 UTSW 19 6,121,497 (GRCm39) missense probably benign 0.04
R1909:Vps51 UTSW 19 6,119,499 (GRCm39) missense probably benign 0.03
R2022:Vps51 UTSW 19 6,121,612 (GRCm39) missense probably benign 0.02
R2146:Vps51 UTSW 19 6,118,164 (GRCm39) missense probably benign 0.25
R2148:Vps51 UTSW 19 6,118,164 (GRCm39) missense probably benign 0.25
R2149:Vps51 UTSW 19 6,118,164 (GRCm39) missense probably benign 0.25
R2901:Vps51 UTSW 19 6,126,468 (GRCm39) missense probably damaging 0.99
R3717:Vps51 UTSW 19 6,127,198 (GRCm39) utr 3 prime probably benign
R3769:Vps51 UTSW 19 6,126,378 (GRCm39) missense possibly damaging 0.54
R5192:Vps51 UTSW 19 6,120,497 (GRCm39) missense possibly damaging 0.88
R5210:Vps51 UTSW 19 6,121,063 (GRCm39) missense probably benign 0.00
R5260:Vps51 UTSW 19 6,121,063 (GRCm39) missense probably benign 0.00
R5261:Vps51 UTSW 19 6,121,063 (GRCm39) missense probably benign 0.00
R5274:Vps51 UTSW 19 6,121,063 (GRCm39) missense probably benign 0.00
R5294:Vps51 UTSW 19 6,121,063 (GRCm39) missense probably benign 0.00
R5295:Vps51 UTSW 19 6,121,063 (GRCm39) missense probably benign 0.00
R5389:Vps51 UTSW 19 6,121,063 (GRCm39) missense probably benign 0.00
R5391:Vps51 UTSW 19 6,121,063 (GRCm39) missense probably benign 0.00
R5392:Vps51 UTSW 19 6,121,063 (GRCm39) missense probably benign 0.00
R5393:Vps51 UTSW 19 6,121,063 (GRCm39) missense probably benign 0.00
R5421:Vps51 UTSW 19 6,121,063 (GRCm39) missense probably benign 0.00
R5422:Vps51 UTSW 19 6,121,063 (GRCm39) missense probably benign 0.00
R5497:Vps51 UTSW 19 6,121,063 (GRCm39) missense probably benign 0.00
R5498:Vps51 UTSW 19 6,121,063 (GRCm39) missense probably benign 0.00
R5499:Vps51 UTSW 19 6,121,063 (GRCm39) missense probably benign 0.00
R5671:Vps51 UTSW 19 6,118,224 (GRCm39) missense probably benign 0.18
R5963:Vps51 UTSW 19 6,118,320 (GRCm39) missense probably damaging 1.00
R5989:Vps51 UTSW 19 6,126,402 (GRCm39) missense probably damaging 0.96
R6427:Vps51 UTSW 19 6,120,947 (GRCm39) missense possibly damaging 0.77
R7247:Vps51 UTSW 19 6,127,419 (GRCm39) utr 3 prime probably benign
R9344:Vps51 UTSW 19 6,126,345 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCACACGCAGAGTACTTGAGAC -3'
(R):5'- TCAGAGTCAGCCACAGAGATTG -3'

Sequencing Primer
(F):5'- CGCAGAGTACTTGAGACAGTATTGTG -3'
(R):5'- ATTGTGGAGCGAGTGGCCC -3'
Posted On 2016-07-06