Incidental Mutation 'R4972:Mvp'
ID 384524
Institutional Source Beutler Lab
Gene Symbol Mvp
Ensembl Gene ENSMUSG00000030681
Gene Name major vault protein
Synonyms LRP, VAULT1, 2310009M24Rik
MMRRC Submission 042567-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4972 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 126986860-127014621 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126989798 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 599 (D599G)
Ref Sequence ENSEMBL: ENSMUSP00000127250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165096]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000165096
AA Change: D599G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127250
Gene: ENSMUSG00000030681
AA Change: D599G

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 0.3105 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.2%
Validation Efficiency 93% (82/88)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,661,404 I868N possibly damaging Het
A730013G03Rik C G 1: 192,833,773 noncoding transcript Het
Actl11 A G 9: 107,929,956 T493A probably benign Het
Actn1 T C 12: 80,173,039 D686G probably benign Het
Adamts1 G A 16: 85,795,945 T525I probably damaging Het
Adcy10 T A 1: 165,556,862 L1064H probably damaging Het
AI661453 A T 17: 47,466,399 probably benign Het
Apba1 T A 19: 23,912,536 S433T probably benign Het
Arid4b T A 13: 14,160,272 N355K probably benign Het
Bsn A T 9: 108,115,178 M1125K probably damaging Het
C2cd5 A T 6: 143,013,224 M1003K probably damaging Het
Ccdc18 A G 5: 108,192,003 M805V probably benign Het
Cep89 T G 7: 35,432,552 L637R probably damaging Het
Col24a1 A T 3: 145,509,684 I1444F probably benign Het
Commd4 A T 9: 57,155,448 S175T probably benign Het
Coq7 A G 7: 118,510,117 V236A unknown Het
Dctn2 C T 10: 127,276,703 R176C probably damaging Het
Ddx31 T C 2: 28,860,770 F389L probably damaging Het
Dgkz C T 2: 91,945,702 R72H probably benign Het
Dpysl4 A G 7: 139,090,290 D24G probably damaging Het
Dydc1 A G 14: 41,082,338 T106A probably benign Het
F13b A G 1: 139,510,923 Y355C probably damaging Het
Fcrl5 A G 3: 87,454,650 M407V probably benign Het
Fzd5 C A 1: 64,736,012 V197L probably benign Het
Galnt16 G T 12: 80,572,329 E70* probably null Het
Gm8979 T C 7: 106,083,314 noncoding transcript Het
Gpr171 A T 3: 59,097,965 F130I probably damaging Het
Grin3a T C 4: 49,770,484 N763D probably damaging Het
Gsta2 A T 9: 78,337,679 M51K probably damaging Het
Hacd3 A T 9: 64,990,436 I298N probably damaging Het
Il18r1 C T 1: 40,491,064 P317L probably benign Het
Iscu T A 5: 113,776,976 probably benign Het
Kif6 A G 17: 49,707,619 D250G probably damaging Het
Klk14 G A 7: 43,692,077 C51Y probably damaging Het
Lcn6 T A 2: 25,680,067 C82S probably damaging Het
Mob4 C G 1: 55,151,002 L135V possibly damaging Het
Mpzl3 T A 9: 45,062,256 probably benign Het
Myo1a T C 10: 127,716,309 Y766H probably benign Het
Myo5b A G 18: 74,627,193 H260R probably damaging Het
Nbea C T 3: 56,085,246 R313H probably damaging Het
Necab1 T A 4: 14,978,216 D211V probably damaging Het
Nefl G T 14: 68,086,763 probably benign Het
Nfx1 T A 4: 40,976,375 D16E probably benign Het
Nlrp9a G T 7: 26,570,539 C797F probably damaging Het
Olfr1280 T A 2: 111,315,818 V113E probably damaging Het
Olfr467 A G 7: 107,814,746 Q56R probably benign Het
Pde6b A G 5: 108,425,264 D500G probably benign Het
Pgs1 T C 11: 118,005,893 probably null Het
Polr3b T A 10: 84,638,124 I189N probably damaging Het
Ppwd1 A T 13: 104,220,108 S300T probably benign Het
Prl2c2 A C 13: 13,002,170 N55K possibly damaging Het
Prpf19 C T 19: 10,899,345 probably benign Het
Prph2 G T 17: 46,910,807 L37F possibly damaging Het
Ptprg G T 14: 12,226,427 R565L possibly damaging Het
Rab8a C T 8: 72,171,275 T74M probably damaging Het
Rexo1 A T 10: 80,549,693 F510L probably damaging Het
Rexo2 G T 9: 48,479,389 T51K probably damaging Het
Sh3d21 T C 4: 126,152,416 K147R possibly damaging Het
Skint6 A G 4: 112,835,068 I1062T probably benign Het
Spag16 C T 1: 70,724,928 R636W probably damaging Het
Spata16 T C 3: 26,840,723 I307T possibly damaging Het
Speer4f2 T G 5: 17,374,425 I74S probably benign Het
Svep1 T A 4: 58,087,778 Y1767F possibly damaging Het
Swt1 T C 1: 151,423,542 S7G probably benign Het
Tex9 A G 9: 72,478,338 probably null Het
Thsd7b C A 1: 130,188,572 P1354H probably damaging Het
Ticrr A G 7: 79,669,668 D467G probably damaging Het
Tmco5b A C 2: 113,296,993 D303A probably damaging Het
Trpm7 A G 2: 126,824,058 V876A probably damaging Het
Ttc21a G A 9: 119,944,961 E245K probably benign Het
Vezt C T 10: 94,000,350 probably null Het
Zscan20 G A 4: 128,592,359 P183S 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
R5031:Mvp UTSW 7 126993616 nonsense probably null
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'- TTTCGATGGCTAGCTGGACAC -3'
(R):5'- TCACTTCTTGTGGGAAAATAGCTTC -3'

Sequencing Primer
(F):5'- TAGCTGGACACTGCGCTG -3'
(R):5'- GAAAATAGCTTCCCCCGCTCTG -3'
Posted On 2016-04-27