Mutagenetix > Incidental Mutation

Incidental Mutation 'R4273:Mvp'

322276

Institutional Source

Beutler Lab

Gene Symbol

Mvp

Ensembl Gene

ENSMUSG00000030681

Gene Name

major vault protein

Synonyms

LRP, VAULT1, 2310009M24Rik

MMRRC Submission

041645-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126986860-127014621 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126989703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 631 (A631T)

Ref Sequence

ENSEMBL: ENSMUSP00000127250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165096]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000165096
AA Change: A631T

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000127250
Gene: ENSMUSG00000030681
AA Change: A631T

Domain	Start	End	E-Value	Type
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: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.1%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,874,598		probably null	Het
Adgrf2	T	A	17: 42,710,122	T604S	probably damaging	Het
Akap8l	T	A	17: 32,321,931	K533*	probably null	Het
Appbp2	T	C	11: 85,234,676	Y45C	probably damaging	Het
Arap2	T	C	5: 62,670,979	I950V	possibly damaging	Het
Arhgap31	T	C	16: 38,602,335	E1123G	possibly damaging	Het
Atp2c1	G	T	9: 105,435,140	N493K	probably benign	Het
Bcr	T	C	10: 75,125,111	I458T	probably damaging	Het
Brd4	G	A	17: 32,214,782	T468I	probably benign	Het
Cdh23	T	A	10: 60,311,161	D2774V	possibly damaging	Het
Cfdp1	T	C	8: 111,768,785	Y267C	probably damaging	Het
Chd6	C	A	2: 160,961,291	A2156S	probably benign	Het
Dazap2	C	A	15: 100,618,090	P100T	probably damaging	Het
Disp1	T	A	1: 183,087,644	I1071F	possibly damaging	Het
Dlgap1	T	A	17: 70,766,043	S686T	probably benign	Het
Dst	C	T	1: 34,192,340	R3183C	possibly damaging	Het
Enpp4	T	C	17: 44,101,807	N279D	probably benign	Het
Exoc3l	T	C	8: 105,289,961	*740W	probably null	Het
Exoc5	A	T	14: 49,015,480	C625*	probably null	Het
Fam98b	A	T	2: 117,260,231	N137Y	possibly damaging	Het
Fat4	T	A	3: 38,891,627	D1556E	probably damaging	Het
Fcer2a	C	A	8: 3,682,848	V319L	possibly damaging	Het
Fer1l6	T	C	15: 58,627,522	V1247A	probably benign	Het
Fmo4	A	G	1: 162,805,179	V201A	probably damaging	Het
Fras1	G	A	5: 96,614,904	G755D	probably benign	Het
Gm13078	A	T	4: 143,726,846	K175*	probably null	Het
Grid2	T	C	6: 63,909,045	Y142H	probably damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Ibtk	T	C	9: 85,726,731	Q376R	probably damaging	Het
Impdh2	T	C	9: 108,564,956	M414T	probably damaging	Het
Itm2c	A	G	1: 85,907,029	T160A	probably damaging	Het
Kcna2	T	A	3: 107,105,193	D363E	probably benign	Het
Lama2	C	T	10: 27,347,054	C412Y	probably damaging	Het
Lims2	C	G	18: 31,956,337	T151S	probably benign	Het
Mier1	T	C	4: 103,162,431	S423P	possibly damaging	Het
Mrgpra3	A	T	7: 47,589,432	W249R	probably benign	Het
Mtor	A	G	4: 148,550,152	H2410R	probably benign	Het
Nepro	T	C	16: 44,735,829	V450A	possibly damaging	Het
Ngrn	T	C	7: 80,264,521	V140A	probably damaging	Het
Nobox	T	C	6: 43,306,008	E231G	probably benign	Het
Olfr129	A	T	17: 38,055,272	I98N	probably damaging	Het
P3h2	T	A	16: 26,105,221	I155F	probably benign	Het
Pcdha3	C	T	18: 36,948,091	R629C	probably damaging	Het
Riok3	AGAAGCGG	AG	18: 12,135,941		probably benign	Het
Rttn	T	C	18: 89,091,896	I1675T	probably benign	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Slc35f4	G	T	14: 49,304,301	T182N	possibly damaging	Het
Slc52a3	T	A	2: 152,005,740	I256N	possibly damaging	Het
Sox9	T	C	11: 112,785,154	S390P	possibly damaging	Het
Tango2	T	C	16: 18,302,790		probably benign	Het
Tas1r1	T	C	4: 152,032,157	E340G	possibly damaging	Het
Tek	G	A	4: 94,829,970	G524R	probably damaging	Het
Tmem260	A	T	14: 48,505,304	Y532F	probably benign	Het
Tsks	C	A	7: 44,957,929	L559I	probably damaging	Het
Unc79	C	A	12: 103,122,353	L1702I	probably damaging	Het
Vmn1r14	T	A	6: 57,234,148	I237N	probably damaging	Het
Vmn2r17	G	A	5: 109,452,966	C710Y	probably benign	Het
Zfp119b	G	T	17: 55,938,926	T420K	possibly damaging	Het
Zfp202	C	T	9: 40,207,494	R68*	probably null	Het
Zfp229	T	A	17: 21,746,821	S677R	probably benign	Het
Zfp462	C	T	4: 55,008,411	H126Y	probably benign	Het
Zfp52	C	A	17: 21,560,197	Y102*	probably null	Het
Zfp616	T	A	11: 74,083,700	M265K	probably benign	Het
Zfyve9	A	T	4: 108,680,976	I1031N	probably damaging	Het
Zmynd11	T	C	13: 9,697,690	Y203C	probably damaging	Het

Other mutations in Mvp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TGCCACGTGTTCAGGTCTTG -3'
(R):5'- ACAGCCAAGCTTTTCTCTGTGC -3'

Sequencing Primer
(F):5'- TGTTCAGGTCTTGGCCCCAG -3'
(R):5'- CCTGACTTTGTGGGCGAC -3'

Posted On

2015-06-20