Incidental Mutation 'R5031:Mvp'
ID 391692
Institutional Source Beutler Lab
Gene Symbol Mvp
Ensembl Gene ENSMUSG00000030681
Gene Name major vault protein
Synonyms VAULT1, LRP, 2310009M24Rik
MMRRC Submission 042622-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5031 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 126586032-126613766 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to C at 126592788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 374 (Y374*)
Ref Sequence ENSEMBL: ENSMUSP00000127250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133172] [ENSMUST00000165096]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000133172
SMART Domains Protein: ENSMUSP00000119213
Gene: ENSMUSG00000030681

Pfam:Vault 25 64 3.3e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000165096
AA Change: Y374*
SMART Domains Protein: ENSMUSP00000127250
Gene: ENSMUSG00000030681
AA Change: Y374*

Pfam:Vault 122 163 5.4e-18 PFAM
Pfam:Vault 175 215 7.7e-16 PFAM
Pfam:Vault 228 271 7.9e-14 PFAM
Pfam:Vault 333 377 2.8e-16 PFAM
Pfam:MVP_shoulder 528 656 5.9e-55 PFAM
low complexity region 707 720 N/A INTRINSIC
low complexity region 733 749 N/A INTRINSIC
low complexity region 751 761 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 89.9%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the major component of the vault complex. Vaults are multi-subunit ribonucleoprotein structures that may be involved in nucleo-cytoplasmic transport. The encoded protein may play a role in multiple cellular processes by regulating the MAP kinase, JAK/STAT and phosphoinositide 3-kinase/Akt signaling pathways. The encoded protein also plays a role in multidrug resistance, and expression of this gene may be a prognostic marker for several types of cancer. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Targeted disruption of this gene does not induce hypersensitivity to various cytostatic agents. Homozygotes are viable, healthy and phenotypically normal and exhibit unimpaired dendritic cell maturation and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,247,678 (GRCm39) N2475I probably damaging Het
Acnat2 T C 4: 49,380,631 (GRCm39) K231R probably damaging Het
Ank1 C T 8: 23,589,696 (GRCm39) P599L probably damaging Het
Arhgef19 A G 4: 140,978,121 (GRCm39) E580G probably damaging Het
Atr A G 9: 95,747,755 (GRCm39) K346E probably damaging Het
AU021092 T C 16: 5,030,468 (GRCm39) K309E probably damaging Het
Baz2b T C 2: 59,743,151 (GRCm39) R1607G probably benign Het
Cct8 C T 16: 87,284,426 (GRCm39) V254M probably damaging Het
Cdca2 T A 14: 67,950,602 (GRCm39) I110F probably damaging Het
Csmd3 A T 15: 47,522,588 (GRCm39) C2694S probably damaging Het
Dmkn A G 7: 30,463,661 (GRCm39) I105V probably benign Het
Dock1 A G 7: 134,753,975 (GRCm39) D1584G probably benign Het
Epg5 G A 18: 78,072,163 (GRCm39) V2392I probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gsap G A 5: 21,447,824 (GRCm39) S294N possibly damaging Het
Hectd2 A G 19: 36,577,004 (GRCm39) N142D probably damaging Het
Hmcn1 A G 1: 150,464,008 (GRCm39) C5091R probably damaging Het
Ifitm5 G A 7: 140,530,017 (GRCm39) R36* probably null Het
Ints2 G A 11: 86,147,026 (GRCm39) P40L probably damaging Het
Irs1 A T 1: 82,264,688 (GRCm39) L1176* probably null Het
Klhl29 C T 12: 5,141,334 (GRCm39) R550Q probably benign Het
Kyat1 A G 2: 30,078,102 (GRCm39) M134T probably damaging Het
Lrrk2 A T 15: 91,584,822 (GRCm39) N384Y possibly damaging Het
Magel2 T C 7: 62,029,852 (GRCm39) S919P unknown Het
Mettl16 A T 11: 74,693,825 (GRCm39) I279F probably benign Het
Mmut T C 17: 41,249,718 (GRCm39) F231S possibly damaging Het
Mrgpra1 A T 7: 46,984,985 (GRCm39) Y231* probably null Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Nabp2 G A 10: 128,245,497 (GRCm39) probably benign Het
Nos1 C T 5: 118,017,378 (GRCm39) P247L probably benign Het
Or10ag53 C A 2: 87,082,426 (GRCm39) F48L probably benign Het
Or9g4b T A 2: 85,616,062 (GRCm39) L69* probably null Het
Pik3cb C T 9: 98,953,461 (GRCm39) D441N probably damaging Het
Qrich1 C T 9: 108,418,935 (GRCm39) P464S possibly damaging Het
Rab17 A T 1: 90,887,860 (GRCm39) probably null Het
Relch A G 1: 105,592,239 (GRCm39) N136S probably damaging Het
Rspo3 A T 10: 29,382,443 (GRCm39) L77H probably damaging Het
Spn G T 7: 126,736,402 (GRCm39) T35K probably benign Het
Sult1d1 T A 5: 87,707,703 (GRCm39) Y139F possibly damaging Het
Tbc1d32 C A 10: 55,999,627 (GRCm39) Q848H probably damaging Het
Tcaf3 A G 6: 42,573,867 (GRCm39) V115A probably benign Het
Tram1l1 T A 3: 124,115,293 (GRCm39) L151* probably null Het
Trappc12 T A 12: 28,742,512 (GRCm39) I682L possibly damaging Het
Trav6d-4 A C 14: 52,991,056 (GRCm39) T31P probably damaging Het
Trpm8 A G 1: 88,275,910 (GRCm39) T503A probably benign Het
Virma T A 4: 11,542,116 (GRCm39) Y1567* probably null Het
Vmn1r228 T A 17: 20,996,943 (GRCm39) K192* probably null Het
Zfp521 T A 18: 13,977,330 (GRCm39) T1028S possibly damaging Het
Zfp583 T A 7: 6,320,397 (GRCm39) Q205L probably benign Het
Other mutations in Mvp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Mvp APN 7 126,588,859 (GRCm39) missense probably benign 0.01
IGL01503:Mvp APN 7 126,601,133 (GRCm39) splice site probably benign
IGL02043:Mvp APN 7 126,592,790 (GRCm39) missense probably damaging 1.00
IGL03412:Mvp APN 7 126,592,735 (GRCm39) missense probably damaging 1.00
R0148:Mvp UTSW 7 126,589,037 (GRCm39) missense probably damaging 1.00
R0458:Mvp UTSW 7 126,597,663 (GRCm39) missense probably damaging 1.00
R0811:Mvp UTSW 7 126,586,728 (GRCm39) missense probably benign
R0812:Mvp UTSW 7 126,586,728 (GRCm39) missense probably benign
R1625:Mvp UTSW 7 126,600,845 (GRCm39) missense probably damaging 1.00
R1707:Mvp UTSW 7 126,600,744 (GRCm39) missense probably benign
R1711:Mvp UTSW 7 126,594,907 (GRCm39) critical splice donor site probably null
R1776:Mvp UTSW 7 126,591,933 (GRCm39) missense probably benign 0.27
R3814:Mvp UTSW 7 126,586,801 (GRCm39) missense probably benign
R4065:Mvp UTSW 7 126,595,489 (GRCm39) missense probably damaging 1.00
R4273:Mvp UTSW 7 126,588,875 (GRCm39) missense probably benign 0.16
R4471:Mvp UTSW 7 126,601,130 (GRCm39) start codon destroyed probably null
R4652:Mvp UTSW 7 126,592,721 (GRCm39) missense probably damaging 1.00
R4693:Mvp UTSW 7 126,597,500 (GRCm39) missense probably damaging 0.98
R4972:Mvp UTSW 7 126,588,970 (GRCm39) missense probably damaging 0.99
R5530:Mvp UTSW 7 126,595,095 (GRCm39) missense probably benign 0.45
R7053:Mvp UTSW 7 126,586,776 (GRCm39) missense possibly damaging 0.90
R7324:Mvp UTSW 7 126,592,781 (GRCm39) missense probably benign
R7580:Mvp UTSW 7 126,591,483 (GRCm39) missense probably damaging 1.00
R8146:Mvp UTSW 7 126,586,171 (GRCm39) missense probably benign 0.15
R9180:Mvp UTSW 7 126,591,822 (GRCm39) missense probably benign 0.04
R9197:Mvp UTSW 7 126,588,959 (GRCm39) missense probably damaging 0.99
R9351:Mvp UTSW 7 126,595,435 (GRCm39) missense probably damaging 0.99
R9727:Mvp UTSW 7 126,595,040 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-06-06