Mutagenetix > Incidental Mutation

Incidental Mutation 'R8751:Vcp'

663828

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

068594-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8751 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42979964-43000507 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 42984658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 411 (L411W)

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

probably damaging
Transcript: ENSMUST00000030164
AA Change: L411W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030164
Gene: ENSMUSG00000028452
AA Change: L411W

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	A	15: 11,215,813 (GRCm39)	I278N	probably damaging	Het
Adcy9	A	G	16: 4,129,492 (GRCm39)	W702R	probably damaging	Het
Adgrf5	G	A	17: 43,748,574 (GRCm39)	V468I	possibly damaging	Het
Ahnak	A	C	19: 8,987,509 (GRCm39)	K2931T	probably damaging	Het
Ank3	C	T	10: 69,761,849 (GRCm39)		probably benign	Het
Birc6	G	A	17: 74,955,135 (GRCm39)	V3480I	probably damaging	Het
Bpifa5	A	T	2: 154,007,432 (GRCm39)	I125L	probably benign	Het
Catsperg2	T	C	7: 29,404,744 (GRCm39)	D773G	possibly damaging	Het
Ccm2l	A	T	2: 152,909,695 (GRCm39)	I16F	probably benign	Het
Cep72	G	A	13: 74,198,303 (GRCm39)	S359F	possibly damaging	Het
Col1a1	A	G	11: 94,838,100 (GRCm39)	N844S	unknown	Het
Col7a1	C	T	9: 108,796,730 (GRCm39)	P1623S	possibly damaging	Het
Crybg1	T	C	10: 43,880,838 (GRCm39)	K117E	probably benign	Het
Csmd3	A	G	15: 47,845,402 (GRCm39)	C54R		Het
Dlg1	A	G	16: 31,600,648 (GRCm39)	T211A	probably benign	Het
Emc1	C	A	4: 139,097,279 (GRCm39)	H724N	possibly damaging	Het
Epg5	A	C	18: 78,008,223 (GRCm39)	N784H	probably benign	Het
Epg5	T	A	18: 78,008,225 (GRCm39)	N784K	probably benign	Het
Epg5	A	T	18: 78,008,224 (GRCm39)	N784I	possibly damaging	Het
Erc2	A	G	14: 27,802,145 (GRCm39)	E771G	possibly damaging	Het
Exo1	T	C	1: 175,719,678 (GRCm39)	V241A	probably benign	Het
Fat4	A	G	3: 38,946,002 (GRCm39)	T1632A	probably benign	Het
Fbxo21	T	A	5: 118,140,127 (GRCm39)	M529K	probably damaging	Het
Fhad1	T	C	4: 141,646,134 (GRCm39)	E276G	probably benign	Het
Frem1	G	A	4: 82,889,015 (GRCm39)	T1069I	probably damaging	Het
Gapvd1	A	C	2: 34,568,078 (GRCm39)	F1429V	probably damaging	Het
Gbp9	T	C	5: 105,229,117 (GRCm39)	E510G	possibly damaging	Het
Gm17087	A	T	17: 8,785,510 (GRCm39)	H64Q	probably damaging	Het
Gm19965	A	T	1: 116,749,867 (GRCm39)	Y516F	unknown	Het
Hdac5	A	T	11: 102,109,280 (GRCm39)	I38N	probably benign	Het
Hectd4	T	A	5: 121,501,838 (GRCm39)	C4190*	probably null	Het
Helb	A	T	10: 119,925,412 (GRCm39)	D988E	probably benign	Het
Herc6	C	T	6: 57,639,359 (GRCm39)	S909L	probably damaging	Het
Ice1	A	T	13: 70,751,010 (GRCm39)	V1692E	probably damaging	Het
Ino80	A	G	2: 119,237,389 (GRCm39)	Y1107H	probably benign	Het
Kif9	A	T	9: 110,330,724 (GRCm39)	Y350F	probably benign	Het
Lct	T	A	1: 128,221,534 (GRCm39)	T1570S	probably benign	Het
Lias	T	A	5: 65,557,193 (GRCm39)	N203K	probably benign	Het
Lrrtm4	A	G	6: 79,999,092 (GRCm39)	N168S	probably damaging	Het
Ltf	A	T	9: 110,860,192 (GRCm39)	K538*	probably null	Het
Lysmd4	A	G	7: 66,875,787 (GRCm39)	D150G	probably benign	Het
Magi2	A	G	5: 20,739,462 (GRCm39)	D572G	probably benign	Het
Meiob	T	C	17: 25,047,008 (GRCm39)		probably null	Het
Ncor2	T	C	5: 125,115,964 (GRCm39)	Y130C		Het
Ntmt2	T	A	1: 163,544,738 (GRCm39)	T82S	probably benign	Het
Ofcc1	A	G	13: 40,409,072 (GRCm39)	S118P	probably benign	Het
Or10g3	A	G	14: 52,610,420 (GRCm39)	F30S	probably benign	Het
Or2t45	A	G	11: 58,669,213 (GRCm39)	T87A	probably benign	Het
Or8b55	T	A	9: 38,727,335 (GRCm39)	C179S	probably damaging	Het
Parp14	A	T	16: 35,677,181 (GRCm39)	M929K	probably benign	Het
Pcdh8	T	C	14: 80,006,229 (GRCm39)	E778G	probably benign	Het
Pgls	T	C	8: 72,047,838 (GRCm39)	V211A	probably benign	Het
Pkd2	T	A	5: 104,637,151 (GRCm39)	M588K	probably damaging	Het
Pms1	T	C	1: 53,231,269 (GRCm39)	N860S	probably benign	Het
Psg19	C	T	7: 18,530,888 (GRCm39)	V89M	probably benign	Het
Reln	T	C	5: 22,147,672 (GRCm39)	H2426R	probably benign	Het
Ripor2	T	A	13: 24,885,050 (GRCm39)	N428K	possibly damaging	Het
Slc12a4	C	T	8: 106,676,285 (GRCm39)		probably null	Het
Slc25a3	T	C	10: 90,952,960 (GRCm39)	I314V	probably benign	Het
Slc29a1	C	A	17: 45,900,688 (GRCm39)	V125F	probably benign	Het
Slc9a5	T	A	8: 106,085,981 (GRCm39)	C583S	probably damaging	Het
Slco2b1	G	A	7: 99,309,259 (GRCm39)	Q691*	probably null	Het
Smg7	T	C	1: 152,719,129 (GRCm39)	D874G	probably damaging	Het
Spef2	T	A	15: 9,729,723 (GRCm39)	K132*	probably null	Het
Tap1	A	G	17: 34,412,133 (GRCm39)	K446R	probably benign	Het
Tcam1	A	T	11: 106,176,443 (GRCm39)	T390S	possibly damaging	Het
Tnik	A	G	3: 28,666,057 (GRCm39)	N687D	probably damaging	Het
Trim42	T	C	9: 97,251,852 (GRCm39)	R16G	possibly damaging	Het
Vma21-ps	C	A	4: 52,496,973 (GRCm39)	G91V	probably damaging	Het
Vmn1r23	T	C	6: 57,903,452 (GRCm39)	T109A	probably benign	Het
Vmn2r67	C	T	7: 84,801,450 (GRCm39)	C162Y	probably benign	Het
Vmn2r-ps117	A	G	17: 19,044,021 (GRCm39)	T366A	probably benign	Het
Zfp804a	A	G	2: 82,066,190 (GRCm39)	K54E	probably 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
R2265:Vcp	UTSW	4	42,980,833 (GRCm39)	missense	possibly damaging	0.93
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
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'- TTTCCCGAAGTGCTGATGGG -3'
(R):5'- GGAGCAGCTTTATTTCCAGCTC -3'

Sequencing Primer
(F):5'- TTTGACTCAAAGCCCACTAAAAAGG -3'
(R):5'- CGGCTTGAATATTTAACACCTCTGAC -3'

Posted On

2021-03-08