Incidental Mutation 'R0711:Vcp'
ID 218644
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 038894-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0711 (G1)
Quality Score 60
Status Validated
Chromosome 4
Chromosomal Location 42979964-43000507 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 42986201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 297 (A297G)
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 benign
Transcript: ENSMUST00000030164
AA Change: A297G

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000030164
Gene: ENSMUSG00000028452
AA Change: A297G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 38 55 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154541
Meta Mutation Damage Score 0.0916 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 91.4%
Validation Efficiency 100% (91/91)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,773,986 (GRCm39) D1058E probably damaging Het
4933405L10Rik A T 8: 106,435,563 (GRCm39) probably null Het
Adamtsl3 T A 7: 82,114,907 (GRCm39) probably benign Het
Afdn C T 17: 14,072,698 (GRCm39) P874S probably damaging Het
Ankrd6 G A 4: 32,815,326 (GRCm39) A391V probably damaging Het
Arhgef28 T G 13: 98,067,762 (GRCm39) T1388P probably damaging Het
Asxl3 G T 18: 22,657,508 (GRCm39) M1839I probably benign Het
BC005537 T C 13: 24,989,923 (GRCm39) F129L probably damaging Het
Celf2 A G 2: 6,726,226 (GRCm39) probably null Het
Chid1 C T 7: 141,076,590 (GRCm39) V325I probably benign Het
Cnn3 T A 3: 121,243,633 (GRCm39) D31E probably benign Het
Col12a1 G A 9: 79,559,317 (GRCm39) P1857L probably damaging Het
Cpeb1 T A 7: 81,001,618 (GRCm39) R430W probably benign Het
Daw1 T C 1: 83,169,059 (GRCm39) probably benign Het
Dcaf13 A G 15: 39,001,484 (GRCm39) Y264C probably damaging Het
Dnah6 T C 6: 73,064,585 (GRCm39) I2666V probably damaging Het
Dnai2 A C 11: 114,645,158 (GRCm39) D531A probably benign Het
Dock10 A T 1: 80,501,692 (GRCm39) F1833I probably damaging Het
Efhd2 C T 4: 141,587,183 (GRCm39) A200T probably damaging Het
Epb41l5 T A 1: 119,551,641 (GRCm39) probably benign Het
Ermp1 A G 19: 29,608,788 (GRCm39) Y164H possibly damaging Het
Gkn2 T C 6: 87,350,401 (GRCm39) probably benign Het
Golgb1 A T 16: 36,739,152 (GRCm39) Q2497L probably damaging Het
Gzme A T 14: 56,355,196 (GRCm39) M245K probably damaging Het
Iars2 A T 1: 185,054,585 (GRCm39) probably benign Het
Icosl T A 10: 77,909,775 (GRCm39) V240D probably damaging Het
Igsf3 T C 3: 101,334,709 (GRCm39) M262T probably benign Het
Ing3 G T 6: 21,971,236 (GRCm39) E336* probably null Het
Kat2a A T 11: 100,597,297 (GRCm39) V625E probably damaging Het
Ksr1 A G 11: 78,929,073 (GRCm39) probably benign Het
Lypd8 A T 11: 58,277,583 (GRCm39) M122L probably benign Het
Mdfi A T 17: 48,143,855 (GRCm39) probably benign Het
Med13 A G 11: 86,192,179 (GRCm39) probably benign Het
Msh6 C T 17: 88,294,112 (GRCm39) R956C probably damaging Het
Myo15b A G 11: 115,774,664 (GRCm39) E670G probably damaging Het
Myo1d A G 11: 80,375,158 (GRCm39) L972P probably damaging Het
Or4s2b A G 2: 88,509,018 (GRCm39) D266G probably damaging Het
Or51ai2 G A 7: 103,587,024 (GRCm39) A146T probably benign Het
Or7g12 T A 9: 18,899,447 (GRCm39) N54K probably benign Het
Pde8b C G 13: 95,244,325 (GRCm39) S143T possibly damaging Het
Pias4 G T 10: 80,993,364 (GRCm39) probably benign Het
Prkca A G 11: 107,872,480 (GRCm39) Y427H probably benign Het
Psg25 G A 7: 18,263,485 (GRCm39) Q113* probably null Het
Rab3gap2 T A 1: 184,982,123 (GRCm39) S392T probably damaging Het
Scrib A G 15: 75,938,756 (GRCm39) probably benign Het
Sdk2 A G 11: 113,793,970 (GRCm39) probably benign Het
Serpinb1c T A 13: 33,070,266 (GRCm39) probably benign Het
Serpinb9f T A 13: 33,511,904 (GRCm39) W136R probably damaging Het
Skic3 C T 13: 76,331,010 (GRCm39) P1480L probably damaging Het
Skint10 C A 4: 112,573,102 (GRCm39) probably benign Het
Slc25a13 T C 6: 6,117,128 (GRCm39) T196A probably damaging Het
Slc26a5 T C 5: 22,052,230 (GRCm39) H33R probably damaging Het
Slc27a6 T C 18: 58,731,829 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,251 (GRCm39) Y819N probably damaging Het
Spata46 C T 1: 170,139,603 (GRCm39) Q201* probably null Het
Sptbn1 A T 11: 30,064,739 (GRCm39) V1920E probably damaging Het
Taf6l A G 19: 8,755,881 (GRCm39) F256L probably benign Het
Tmco3 T A 8: 13,342,039 (GRCm39) N104K probably damaging Het
Tmem200c A G 17: 69,149,249 (GRCm39) T611A probably damaging Het
Tmem202 T G 9: 59,432,655 (GRCm39) Y24S probably damaging Het
Tpp1 A G 7: 105,398,626 (GRCm39) L230P probably damaging Het
Trim56 C T 5: 137,141,846 (GRCm39) E557K probably benign Het
Trrap C T 5: 144,790,309 (GRCm39) L3590F probably damaging Het
Tulp4 A G 17: 6,189,387 (GRCm39) T70A possibly damaging Het
Vwf T A 6: 125,603,234 (GRCm39) H861Q probably benign Het
Wdr64 T C 1: 175,599,751 (GRCm39) I536T probably benign Het
Zfp850 T C 7: 27,689,698 (GRCm39) N170S probably benign Het
Zfp87 G A 13: 74,524,544 (GRCm39) probably benign Het
Other mutations in Vcp
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACAACTGAGACACGATGCGACG -3'
(R):5'- GGACCTGTATTTGGGCTAGGGGAAA -3'

Sequencing Primer
(F):5'- GATGCGACGCTCCACTTC -3'
(R):5'- atccgacgccctcttcc -3'
Posted On 2014-08-18