Mutagenetix > Incidental Mutation

Incidental Mutation 'R8313:Vcp'

641486

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

067797-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42979964-43000507 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42988728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 249 (T249A)

Ref Sequence

ENSEMBL: ENSMUSP00000030164 (fasta)

Gene Model

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

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: T249A

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030164
Gene: ENSMUSG00000028452
AA Change: T249A

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

noncoding transcript
Transcript: ENSMUST00000139843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148182

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154541

Meta Mutation Damage Score

0.7721

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Atl2	C	T	17: 80,160,033 (GRCm39)	W518*	probably null	Het
Atp13a2	G	A	4: 140,730,046 (GRCm39)	V646I	probably benign	Het
Bcar1	A	T	8: 112,440,270 (GRCm39)	F575I	probably benign	Het
Bpifa6	T	A	2: 153,831,178 (GRCm39)	L248*	probably null	Het
Ccdc38	T	C	10: 93,399,111 (GRCm39)	L193P	probably damaging	Het
Ch25h	A	C	19: 34,452,138 (GRCm39)	I130S	probably benign	Het
Chaf1a	C	A	17: 56,351,109 (GRCm39)	Q30K	unknown	Het
Dab2ip	T	C	2: 35,617,440 (GRCm39)	L1106S	probably damaging	Het
Dnah3	A	G	7: 119,550,375 (GRCm39)	Y3315H	probably benign	Het
Dnah7b	G	A	1: 46,214,456 (GRCm39)	V1074I	possibly damaging	Het
Efemp1	A	G	11: 28,860,691 (GRCm39)	Q200R	probably benign	Het
Eif1ad3	A	T	12: 87,843,764 (GRCm39)	D137V	unknown	Het
Epx	C	T	11: 87,763,557 (GRCm39)	R221Q	possibly damaging	Het
Exosc7	T	C	9: 122,956,942 (GRCm39)	L109P	probably damaging	Het
Fbxo22	T	A	9: 55,128,344 (GRCm39)	F222I	probably damaging	Het
Fcgbp	A	G	7: 27,785,769 (GRCm39)	D402G	probably benign	Het
Foxr1	A	G	9: 44,347,351 (GRCm39)	V62A	probably damaging	Het
Gm8267	A	T	14: 44,961,515 (GRCm39)	H59Q	probably damaging	Het
Gnptab	T	A	10: 88,275,071 (GRCm39)	Y1090N	probably damaging	Het
Gpr20	A	G	15: 73,568,161 (GRCm39)	F76S	probably damaging	Het
Gpr33	A	G	12: 52,070,907 (GRCm39)	V44A	probably benign	Het
Grin3a	G	A	4: 49,665,599 (GRCm39)	T1012I	probably benign	Het
Itga1	T	A	13: 115,103,120 (GRCm39)	T1104S	probably benign	Het
Kidins220	T	A	12: 25,054,110 (GRCm39)	Y537N	probably damaging	Het
Lama1	A	G	17: 68,057,515 (GRCm39)	T530A		Het
Lysmd2	A	T	9: 75,533,040 (GRCm39)		probably benign	Het
Mdk	T	C	2: 91,761,178 (GRCm39)	K128E	unknown	Het
Mphosph8	AC	A	14: 56,916,062 (GRCm39)		probably null	Het
Muc16	A	C	9: 18,436,443 (GRCm39)	L7915W	possibly damaging	Het
Muc4	A	T	16: 32,753,423 (GRCm38)	T1100S	probably benign	Het
Mxra7	T	C	11: 116,695,376 (GRCm39)	Y176C	probably damaging	Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Myo18b	A	G	5: 113,023,045 (GRCm39)	S116P	unknown	Het
Noc3l	A	G	19: 38,784,254 (GRCm39)	L543P	probably damaging	Het
Or5h24	C	T	16: 58,919,004 (GRCm39)	G117D	unknown	Het
Or7a39	C	T	10: 78,715,170 (GRCm39)	P55S	probably benign	Het
Or8c10	T	A	9: 38,279,346 (GRCm39)	V168E	probably damaging	Het
Pkm	G	T	9: 59,575,902 (GRCm39)	R106L	probably benign	Het
Prkab2	G	T	3: 97,570,911 (GRCm39)	V112F	probably benign	Het
Prkaca	A	T	8: 84,717,151 (GRCm39)	N172Y	probably damaging	Het
Prmt8	A	G	6: 127,666,813 (GRCm39)	V387A	probably benign	Het
Rad17	T	C	13: 100,761,074 (GRCm39)	T485A	probably benign	Het
Rita1	G	T	5: 120,747,716 (GRCm39)	T194K	possibly damaging	Het
Rogdi	C	A	16: 4,831,313 (GRCm39)		probably benign	Het
Senp5	T	C	16: 31,808,117 (GRCm39)	D379G	probably benign	Het
Slc4a4	A	G	5: 89,194,122 (GRCm39)	K201E	possibly damaging	Het
Slc9a4	C	T	1: 40,619,520 (GRCm39)		probably benign	Het
Tmem175	T	A	5: 108,791,075 (GRCm39)	S208R	probably benign	Het
Tmem237	A	T	1: 59,147,237 (GRCm39)	Y299N	probably damaging	Het
Tnrc6a	T	A	7: 122,769,936 (GRCm39)	N575K	possibly damaging	Het
Trak2	A	T	1: 58,960,306 (GRCm39)	C232*	probably null	Het
Ubr3	A	G	2: 69,775,478 (GRCm39)	H589R	probably damaging	Het
Vmn1r208	G	C	13: 22,956,947 (GRCm39)	I183M	probably benign	Het
Vmn1r231	C	T	17: 21,110,289 (GRCm39)	V209I	probably benign	Het
Vmn1r80	T	C	7: 11,926,994 (GRCm39)	F35L	probably benign	Het
Vmn2r58	A	T	7: 41,521,952 (GRCm39)	I48N	probably benign	Het
Vstm2a	T	A	11: 16,231,898 (GRCm39)	V231E	probably damaging	Het
Zfp108	A	C	7: 23,960,087 (GRCm39)	Y226S	possibly damaging	Het
Zfp445	A	T	9: 122,682,695 (GRCm39)	N415K	possibly damaging	Het
Zfp938	T	G	10: 82,061,422 (GRCm39)	R399S	possibly damaging	Het
Zmym4	G	A	4: 126,804,762 (GRCm39)	H464Y	probably benign	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
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'- CACTATATATTAGCACACATGTACACA -3'
(R):5'- ACGTATCTCAAAGGCTTGTTTGTTT -3'

Sequencing Primer
(F):5'- TGGTTCAGAGTATAATCCCCAGC -3'
(R):5'- GCCAGTGCTCATAAATGCTG -3'

Posted On

2020-07-28