|Institutional Source||Beutler Lab|
|Gene Name||major vault protein|
|Synonyms||LRP, VAULT1, 2310009M24Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1776 (G1)|
|Chromosomal Location||126986860-127014621 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 126992761 bp|
|Amino Acid Change||Glutamine to Arginine at position 419 (Q419R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000127250 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000165096]|
|Predicted Effect||probably benign
AA Change: Q419R
PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: Q419R
|Meta Mutation Damage Score||0.168|
|Coding Region Coverage||
|Validation Efficiency||98% (86/88)|
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||
|Other mutations in Mvp||
(F):5'- GGACAACACTGTGAACTGCTCCTC -3'
(R):5'- GCAGACACCTGCTTTAACCAGGAC -3'
(F):5'- GATCCAGTGACACTAGCTCAGG -3'
(R):5'- tgctttaaccaggacactgtg -3'