Incidental Mutation 'R5031:Mvp'
ID 391692
Institutional Source Beutler Lab
Gene Symbol Mvp
Ensembl Gene ENSMUSG00000030681
Gene Name major vault protein
Synonyms LRP, VAULT1, 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 126986860-127014621 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to C at 126993616 bp (GRCm38)
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

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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
2310035C23Rik A G 1: 105,664,514 N136S probably damaging Het
Abca13 A T 11: 9,297,678 N2475I probably damaging Het
Acnat2 T C 4: 49,380,631 K231R probably damaging Het
Ank1 C T 8: 23,099,680 P599L probably damaging Het
Arhgef19 A G 4: 141,250,810 E580G probably damaging Het
Atr A G 9: 95,865,702 K346E probably damaging Het
AU021092 T C 16: 5,212,604 K309E probably damaging Het
Baz2b T C 2: 59,912,807 R1607G probably benign Het
Cct8 C T 16: 87,487,538 V254M probably damaging Het
Cdca2 T A 14: 67,713,153 I110F probably damaging Het
Csmd3 A T 15: 47,659,192 C2694S probably damaging Het
Dmkn A G 7: 30,764,236 I105V probably benign Het
Dock1 A G 7: 135,152,246 D1584G probably benign Het
Epg5 G A 18: 78,028,948 V2392I probably benign Het
Gm4787 G C 12: 81,377,830 T518S probably benign Het
Gsap G A 5: 21,242,826 S294N possibly damaging Het
Hectd2 A G 19: 36,599,604 N142D probably damaging Het
Hmcn1 A G 1: 150,588,257 C5091R probably damaging Het
Ifitm5 G A 7: 140,950,104 R36* probably null Het
Ints2 G A 11: 86,256,200 P40L probably damaging Het
Irs1 A T 1: 82,286,967 L1176* probably null Het
Klhl29 C T 12: 5,091,334 R550Q probably benign Het
Kyat1 A G 2: 30,188,090 M134T probably damaging Het
Lrrk2 A T 15: 91,700,619 N384Y possibly damaging Het
Magel2 T C 7: 62,380,104 S919P unknown Het
Mettl16 A T 11: 74,802,999 I279F probably benign Het
Mrgpra1 A T 7: 47,335,237 Y231* probably null Het
Mroh2a GCCC GC 1: 88,232,257 probably null Het
Mut T C 17: 40,938,827 F231S possibly damaging Het
Nabp2 G A 10: 128,409,628 probably benign Het
Nos1 C T 5: 117,879,313 P247L probably benign Het
Olfr1015 T A 2: 85,785,718 L69* probably null Het
Olfr1115 C A 2: 87,252,082 F48L probably benign Het
Pik3cb C T 9: 99,071,408 D441N probably damaging Het
Qrich1 C T 9: 108,541,736 P464S possibly damaging Het
Rab17 A T 1: 90,960,138 probably null Het
Rspo3 A T 10: 29,506,447 L77H probably damaging Het
Spn G T 7: 127,137,230 T35K probably benign Het
Sult1d1 T A 5: 87,559,844 Y139F possibly damaging Het
Tbc1d32 C A 10: 56,123,531 Q848H probably damaging Het
Tcaf3 A G 6: 42,596,933 V115A probably benign Het
Tram1l1 T A 3: 124,321,644 L151* probably null Het
Trappc12 T A 12: 28,692,513 I682L possibly damaging Het
Trav6d-4 A C 14: 52,753,599 T31P probably damaging Het
Trpm8 A G 1: 88,348,188 T503A probably benign Het
Virma T A 4: 11,542,116 Y1567* probably null Het
Vmn1r228 T A 17: 20,776,681 K192* probably null Het
Zfp521 T A 18: 13,844,273 T1028S possibly damaging Het
Zfp583 T A 7: 6,317,398 Q205L probably benign Het
Other mutations in Mvp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Mvp APN 7 126989687 missense probably benign 0.01
IGL01503:Mvp APN 7 127001961 splice site probably benign
IGL02043:Mvp APN 7 126993618 missense probably damaging 1.00
IGL03412:Mvp APN 7 126993563 missense probably damaging 1.00
R0148:Mvp UTSW 7 126989865 missense probably damaging 1.00
R0458:Mvp UTSW 7 126998491 missense probably damaging 1.00
R0811:Mvp UTSW 7 126987556 missense probably benign
R0812:Mvp UTSW 7 126987556 missense probably benign
R1625:Mvp UTSW 7 127001673 missense probably damaging 1.00
R1707:Mvp UTSW 7 127001572 missense probably benign
R1711:Mvp UTSW 7 126995735 critical splice donor site probably null
R1776:Mvp UTSW 7 126992761 missense probably benign 0.27
R3814:Mvp UTSW 7 126987629 missense probably benign
R4065:Mvp UTSW 7 126996317 missense probably damaging 1.00
R4273:Mvp UTSW 7 126989703 missense probably benign 0.16
R4471:Mvp UTSW 7 127001958 start codon destroyed probably null
R4652:Mvp UTSW 7 126993549 missense probably damaging 1.00
R4693:Mvp UTSW 7 126998328 missense probably damaging 0.98
R4972:Mvp UTSW 7 126989798 missense probably damaging 0.99
R5530:Mvp UTSW 7 126995923 missense probably benign 0.45
R7053:Mvp UTSW 7 126987604 missense possibly damaging 0.90
R7324:Mvp UTSW 7 126993609 missense probably benign
R7580:Mvp UTSW 7 126992311 missense probably damaging 1.00
R8146:Mvp UTSW 7 126986999 missense probably benign 0.15
R9180:Mvp UTSW 7 126992650 missense probably benign 0.04
R9197:Mvp UTSW 7 126989787 missense probably damaging 0.99
R9351:Mvp UTSW 7 126996263 missense probably damaging 0.99
R9727:Mvp UTSW 7 126995868 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGTATGAGTCTTCTCCCAAC -3'
(R):5'- TATGGCCAGAGAGACACCATG -3'

Sequencing Primer
(F):5'- GTATGAGTCTTCTCCCAACCTGCC -3'
(R):5'- CCACTAGGGAGAGAAGTCCTTTTTC -3'
Posted On 2016-06-06