Incidental Mutation 'R9727:Mvp'
ID 731098
Institutional Source Beutler Lab
Gene Symbol Mvp
Ensembl Gene ENSMUSG00000030681
Gene Name major vault protein
Synonyms VAULT1, LRP, 2310009M24Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9727 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 126586032-126613766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126595040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 268 (H268Q)
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 damaging
Transcript: ENSMUST00000165096
AA Change: H268Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127250
Gene: ENSMUSG00000030681
AA Change: H268Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akirin2 A G 4: 34,565,248 (GRCm39) Y165C probably damaging Het
Aox4 A G 1: 58,286,473 (GRCm39) I702V probably benign Het
Arhgef33 A G 17: 80,678,720 (GRCm39) Y472C probably damaging Het
Atp13a4 T G 16: 29,228,589 (GRCm39) S964R Het
Atp1a2 T A 1: 172,118,936 (GRCm39) I69F probably benign Het
Bub1 T C 2: 127,652,609 (GRCm39) D586G possibly damaging Het
Ccdc177 C A 12: 80,806,044 (GRCm39) A77S probably benign Het
Ccdc187 A G 2: 26,171,204 (GRCm39) W425R probably damaging Het
Ccn2 A G 10: 24,471,820 (GRCm39) E37G probably benign Het
Ccsap T C 8: 124,572,169 (GRCm39) D111G possibly damaging Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Ceacam3 C A 7: 16,892,262 (GRCm39) T335K Het
Col22a1 A T 15: 71,849,123 (GRCm39) W322R probably damaging Het
Col5a2 A G 1: 45,415,818 (GRCm39) V1443A possibly damaging Het
Dnah12 C T 14: 26,523,510 (GRCm39) Q2000* probably null Het
Dock7 G T 4: 98,875,568 (GRCm39) T1154K unknown Het
Dot1l T C 10: 80,628,382 (GRCm39) L1140P unknown Het
Dst G A 1: 34,314,877 (GRCm39) V4489M probably damaging Het
Duox2 G A 2: 122,116,998 (GRCm39) R960* probably null Het
Elavl2 T C 4: 91,169,495 (GRCm39) I97V probably benign Het
Emp1 G T 6: 135,358,016 (GRCm39) A121S probably benign Het
Exph5 A T 9: 53,287,702 (GRCm39) R1594S probably damaging Het
Fam186b C T 15: 99,171,669 (GRCm39) M859I probably benign Het
Fat2 A G 11: 55,159,137 (GRCm39) V3345A probably damaging Het
Gtf2f1 A T 17: 57,318,005 (GRCm39) N10K possibly damaging Het
Hid1 T G 11: 115,245,939 (GRCm39) K384N probably damaging Het
Hmcn1 T C 1: 150,674,566 (GRCm39) R579G probably benign Het
Igf1r T A 7: 67,857,554 (GRCm39) V1078D probably damaging Het
Il20rb A T 9: 100,357,001 (GRCm39) M43K probably damaging Het
Kdm3a A T 6: 71,569,094 (GRCm39) Y1134* probably null Het
Kif12 T A 4: 63,085,978 (GRCm39) N429I probably damaging Het
Kif18a C T 2: 109,118,464 (GRCm39) T93I probably damaging Het
Krtap9-5 T A 11: 99,839,340 (GRCm39) C14S possibly damaging Het
Lgals8 A T 13: 12,462,038 (GRCm39) M264K possibly damaging Het
Mlxipl T A 5: 135,150,388 (GRCm39) C143* probably null Het
Mtcl2 T A 2: 156,862,168 (GRCm39) Q1587L possibly damaging Het
Ngef G A 1: 87,431,010 (GRCm39) P269L probably damaging Het
Nos2 A G 11: 78,843,825 (GRCm39) Y924C possibly damaging Het
Or4f52 A T 2: 111,061,961 (GRCm39) M59K probably damaging Het
Phf20l1 A G 15: 66,487,231 (GRCm39) N449S probably benign Het
Pot1b A C 17: 55,999,795 (GRCm39) I210S possibly damaging Het
Ptrh1 T A 2: 32,665,854 (GRCm39) W5R probably benign Het
Rasgrp3 A G 17: 75,810,239 (GRCm39) H313R probably damaging Het
Ric1 A T 19: 29,575,258 (GRCm39) I984F probably damaging Het
Rin2 G A 2: 145,702,506 (GRCm39) A401T possibly damaging Het
Rmdn3 C A 2: 118,968,827 (GRCm39) probably null Het
Senp7 A T 16: 55,990,169 (GRCm39) H639L probably benign Het
Sipa1l1 T C 12: 82,471,829 (GRCm39) S1270P probably damaging Het
Slc22a28 T A 19: 8,108,818 (GRCm39) E108V probably benign Het
Slc7a5 A G 8: 122,613,085 (GRCm39) I331T probably benign Het
Smarca4 T C 9: 21,611,160 (GRCm39) Y1467H probably damaging Het
Srebf2 T A 15: 82,076,506 (GRCm39) F759I possibly damaging Het
Thumpd2 A T 17: 81,345,585 (GRCm39) D304E probably damaging Het
Tmem59 A G 4: 107,050,547 (GRCm39) E226G probably benign Het
Trpv1 A C 11: 73,130,347 (GRCm39) D151A probably damaging Het
Txnrd3 A G 6: 89,651,751 (GRCm39) D607G probably benign Het
Ubr4 T A 4: 139,140,735 (GRCm39) V1218E probably damaging Het
Ugt2b5 T A 5: 87,288,165 (GRCm39) M1L probably damaging Het
Vwa5b2 C T 16: 20,423,477 (GRCm39) A1130V probably damaging Het
Wdr4 T C 17: 31,718,045 (GRCm39) E343G probably benign Het
Zbtb34 C A 2: 33,301,533 (GRCm39) R336L probably benign Het
Zfp607b T C 7: 27,403,125 (GRCm39) V527A probably benign Het
Zfp949 T A 9: 88,451,913 (GRCm39) C494* probably null 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
R5031:Mvp UTSW 7 126,592,788 (GRCm39) nonsense probably null
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
Predicted Primers PCR Primer
(F):5'- TCCCTTGTCACAGCTCTGAG -3'
(R):5'- CAGGGTAGGTAGACATTGTCCC -3'

Sequencing Primer
(F):5'- AGGTGGAGATGGCCTTACC -3'
(R):5'- TGGTGTTCCCAGATCCAAAG -3'
Posted On 2022-10-06