Mutagenetix > Incidental Mutation

Incidental Mutation 'R2265:Vcp'

244060

Institutional Source

Beutler Lab

Gene Symbol

Vcp

Ensembl Gene

ENSMUSG00000028452

Gene Name

valosin containing protein

Synonyms

CDC48, p97, AAA ATPase p97, p97/VCP

MMRRC Submission

040265-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2265 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42979964-43000507 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 42980833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 759 (A759V)

Ref Sequence

ENSEMBL: ENSMUSP00000030164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030164] [ENSMUST00000139127]

AlphaFold

Q01853

PDB Structure

STRUCTURE OF THE N-TERMINAL DOMAIN AND THE D1 AAA DOMAIN OF MEMBRANE FUSION ATPASE P97 [X-RAY DIFFRACTION]
The crystal structure of murine p97/VCP at 3.6A [X-RAY DIFFRACTION]
Crystal structure of AAA ATPase p97/VCP ND1 in complex with p47 C [X-RAY DIFFRACTION]
Strctural Model of the p97 N domain- npl4 UBD complex [SOLUTION NMR]
Structure of D2 subdomain of P97/VCP in complex with ADP [X-RAY DIFFRACTION]
Structure of P97/vcp in complex with ADP/ADP.alfx [X-RAY DIFFRACTION]
Structure of P97/vcp in complex with ADP/AMP-PNP [X-RAY DIFFRACTION]
Structure of P97/vcp in complex with ADP [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030164
AA Change: A759V

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030164
Gene: ENSMUSG00000028452
AA Change: A759V

Domain	Start	End	E-Value	Type
CDC48_N	25	108	6.85e-27	SMART
CDC48_2	125	191	3.77e-15	SMART
AAA	237	373	7.87e-24	SMART
AAA	510	649	2e-25	SMART
Pfam:Vps4_C	710	762	3.5e-7	PFAM
low complexity region	775	794	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139127

SMART Domains

Protein: ENSMUSP00000116415
Gene: ENSMUSG00000028451

Domain	Start	End	E-Value	Type
low complexity region	38	55	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154541

Meta Mutation Damage Score

0.1281

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family that includes putative ATP-binding proteins involved in vesicle transport and fusion, 26S proteasome function, and assembly of peroxisomes. This protein, as a structural protein, is associated with clathrin, and heat-shock protein Hsc70, to form a complex. It has been implicated in a number of cellular events that are regulated during mitosis, including homotypic membrane fusion, spindle pole body function, and ubiquitin-dependent protein degradation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. Mice homozygous for a knock-in allele exhibit progressive muscle weakness, myopathy, decreased bone density, increased osteoclast genesis, and seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	C	1: 12,042,328 (GRCm39)		probably null	Het
Aadac	T	A	3: 59,944,737 (GRCm39)	D136E	probably damaging	Het
Abca16	A	G	7: 120,030,383 (GRCm39)	D165G	probably benign	Het
Adam24	T	A	8: 41,133,110 (GRCm39)	S193T	possibly damaging	Het
Adra2b	T	C	2: 127,205,791 (GRCm39)	S103P	probably damaging	Het
Agrn	C	T	4: 156,263,675 (GRCm39)	G173R	probably damaging	Het
Alg11	T	A	8: 22,555,630 (GRCm39)	V255E	probably benign	Het
Aox1	C	A	1: 58,120,679 (GRCm39)	D857E	probably damaging	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Bdkrb2	A	G	12: 105,558,484 (GRCm39)	T242A	probably benign	Het
Cdca7	T	C	2: 72,312,834 (GRCm39)	L190P	probably benign	Het
Cenpe	A	G	3: 134,967,397 (GRCm39)	T2180A	probably benign	Het
Cep41	T	A	6: 30,660,915 (GRCm39)	I126F	possibly damaging	Het
Col16a1	C	A	4: 129,946,711 (GRCm39)	H111Q	probably benign	Het
Cops3	T	C	11: 59,718,716 (GRCm39)	T193A	probably benign	Het
Dbr1	G	A	9: 99,461,463 (GRCm39)	V153M	probably damaging	Het
Ddx4	A	G	13: 112,757,810 (GRCm39)	Y290H	probably benign	Het
Dgkb	T	A	12: 38,240,107 (GRCm39)	S461R	possibly damaging	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dnajc28	T	C	16: 91,413,200 (GRCm39)	N372S	probably benign	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Dock3	C	A	9: 106,818,525 (GRCm39)	V1190F	probably damaging	Het
Exosc1	A	G	19: 41,919,857 (GRCm39)	S54P	probably damaging	Het
Fbxw22	C	T	9: 109,213,062 (GRCm39)	R295K	probably benign	Het
Foxo1	T	C	3: 52,253,333 (GRCm39)	S499P	probably benign	Het
Heatr5a	T	C	12: 51,940,528 (GRCm39)	D1444G	possibly damaging	Het
Hspa2	T	G	12: 76,452,962 (GRCm39)	I552S	probably benign	Het
Imp4	T	A	1: 34,482,928 (GRCm39)	I173N	probably damaging	Het
Itgal	A	G	7: 126,905,873 (GRCm39)	I352V	possibly damaging	Het
Kcnh6	G	A	11: 105,924,643 (GRCm39)	R816Q	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcnip3	G	T	2: 127,306,981 (GRCm39)	A173D	probably benign	Het
Kir3dl1	A	G	X: 135,425,784 (GRCm39)	R53G	probably benign	Het
Klhl31	A	G	9: 77,557,440 (GRCm39)	D52G	possibly damaging	Het
Klk1b21	T	C	7: 43,753,863 (GRCm39)	I49T	possibly damaging	Het
Lama2	T	A	10: 26,868,932 (GRCm39)	I2838F	probably damaging	Het
Lilrb4a	T	A	10: 51,367,633 (GRCm39)	Y58*	probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,301,628 (GRCm39)	S266P	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mroh7	T	C	4: 106,578,124 (GRCm39)	N185D	probably benign	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Mycbp2	T	C	14: 103,500,185 (GRCm39)	D937G	probably benign	Het
Myo18b	A	G	5: 112,930,539 (GRCm39)	M1799T	probably damaging	Het
Nr4a2	T	A	2: 57,002,018 (GRCm39)	D145V	possibly damaging	Het
Ntmt1	C	A	2: 30,710,472 (GRCm39)	N58K	probably benign	Het
Or10ak16	A	T	4: 118,751,071 (GRCm39)	R264W	probably damaging	Het
Or2m12	A	G	16: 19,105,305 (GRCm39)	Y63H	probably damaging	Het
Or4f54	A	G	2: 111,123,524 (GRCm39)	T304A	probably benign	Het
Or51f1d	G	A	7: 102,701,344 (GRCm39)	V280I	probably benign	Het
Or52n20	T	C	7: 104,320,067 (GRCm39)	F53L	probably benign	Het
Or8k28	T	C	2: 86,286,558 (GRCm39)	Y19C	possibly damaging	Het
Ovch2	A	T	7: 107,383,782 (GRCm39)	M521K	probably damaging	Het
P2ry13	T	C	3: 59,117,449 (GRCm39)	M110V	probably damaging	Het
P2ry14	T	C	3: 59,022,992 (GRCm39)	N165S	probably damaging	Het
Pcdhb19	A	T	18: 37,630,736 (GRCm39)	H177L	probably damaging	Het
Phf8	T	C	X: 150,355,597 (GRCm39)	L520S	possibly damaging	Het
Pjvk	T	G	2: 76,487,797 (GRCm39)	S230A	possibly damaging	Het
Plch2	T	C	4: 155,077,461 (GRCm39)	E423G	probably benign	Het
Rad9b	T	C	5: 122,489,405 (GRCm39)	Y41C	probably damaging	Het
Ranbp3l	A	T	15: 9,057,194 (GRCm39)	I286F	probably damaging	Het
Rtel1	T	A	2: 180,996,161 (GRCm39)	V739D	probably damaging	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Spg11	A	T	2: 121,938,788 (GRCm39)	C389S	possibly damaging	Het
Srsf4	T	C	4: 131,624,993 (GRCm39)	V130A	probably damaging	Het
Taar8b	T	C	10: 23,967,270 (GRCm39)	N308S	probably damaging	Het
Tas2r117	T	A	6: 132,780,188 (GRCm39)	C109S	probably benign	Het
Tlr5	T	A	1: 182,802,600 (GRCm39)	S635T	possibly damaging	Het
Ttc21a	G	T	9: 119,788,074 (GRCm39)	C833F	possibly damaging	Het
Vash2	T	C	1: 190,682,410 (GRCm39)	N347D	probably damaging	Het
Vmn2r18	T	C	5: 151,510,127 (GRCm39)	E82G	probably damaging	Het
Vps13c	T	C	9: 67,828,229 (GRCm39)	V1461A	possibly damaging	Het
Zfp616	T	C	11: 73,976,289 (GRCm39)	Y853H	possibly damaging	Het

Other mutations in Vcp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01460:Vcp	APN	4	42,996,040 (GRCm39)	missense	possibly damaging	0.69
IGL02251:Vcp	APN	4	42,988,728 (GRCm39)	missense	possibly damaging	0.49
H8562:Vcp	UTSW	4	42,982,596 (GRCm39)	missense	probably damaging	1.00
R0627:Vcp	UTSW	4	42,983,011 (GRCm39)	missense	possibly damaging	0.83
R0639:Vcp	UTSW	4	42,982,565 (GRCm39)	missense	probably benign	0.00
R0711:Vcp	UTSW	4	42,986,201 (GRCm39)	missense	probably benign	0.22
R0766:Vcp	UTSW	4	42,988,728 (GRCm39)	missense	possibly damaging	0.49
R1312:Vcp	UTSW	4	42,988,728 (GRCm39)	missense	possibly damaging	0.49
R1702:Vcp	UTSW	4	42,990,840 (GRCm39)	missense	probably damaging	1.00
R2071:Vcp	UTSW	4	42,995,894 (GRCm39)	critical splice donor site	probably null
R2192:Vcp	UTSW	4	42,982,547 (GRCm39)	missense	probably benign
R2262:Vcp	UTSW	4	42,980,828 (GRCm39)	missense	probably benign	0.04
R2268:Vcp	UTSW	4	42,980,833 (GRCm39)	missense	possibly damaging	0.93
R2269:Vcp	UTSW	4	42,980,833 (GRCm39)	missense	possibly damaging	0.93
R2443:Vcp	UTSW	4	42,983,385 (GRCm39)	missense	probably damaging	1.00
R2937:Vcp	UTSW	4	42,980,846 (GRCm39)	missense	probably damaging	1.00
R2973:Vcp	UTSW	4	42,996,315 (GRCm39)	missense	probably damaging	1.00
R4004:Vcp	UTSW	4	42,983,028 (GRCm39)	missense	probably damaging	1.00
R4488:Vcp	UTSW	4	42,993,826 (GRCm39)	missense	probably damaging	0.96
R4546:Vcp	UTSW	4	42,988,813 (GRCm39)	intron	probably benign
R4578:Vcp	UTSW	4	42,984,565 (GRCm39)	missense	probably benign	0.41
R4817:Vcp	UTSW	4	42,983,486 (GRCm39)	missense	probably damaging	1.00
R4869:Vcp	UTSW	4	42,993,691 (GRCm39)	missense	probably benign	0.00
R5014:Vcp	UTSW	4	42,980,828 (GRCm39)	missense	probably benign	0.04
R6128:Vcp	UTSW	4	42,980,941 (GRCm39)	missense	probably benign	0.00
R6594:Vcp	UTSW	4	42,993,826 (GRCm39)	missense	probably damaging	0.96
R7105:Vcp	UTSW	4	42,985,991 (GRCm39)	missense	probably damaging	1.00
R7470:Vcp	UTSW	4	42,982,891 (GRCm39)	missense	probably damaging	1.00
R8006:Vcp	UTSW	4	42,985,993 (GRCm39)	missense	probably benign	0.04
R8234:Vcp	UTSW	4	42,985,242 (GRCm39)	missense	probably damaging	1.00
R8313:Vcp	UTSW	4	42,988,728 (GRCm39)	missense	possibly damaging	0.49
R8751:Vcp	UTSW	4	42,984,658 (GRCm39)	missense	probably damaging	1.00
R8992:Vcp	UTSW	4	42,980,828 (GRCm39)	missense	probably benign	0.04
R9506:Vcp	UTSW	4	42,983,383 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTACACACTGCCACCTGTG -3'
(R):5'- GGTTAGAGTGCAAGCTGGATCC -3'

Sequencing Primer
(F):5'- CCTGAAGGGAATCTGTATACACAAG -3'
(R):5'- CTGGATCCTAACTAGCATAGTGGTC -3'

Posted On

2014-10-16