Incidental Mutation 'R5295:Plvap'
ID 405360
Institutional Source Beutler Lab
Gene Symbol Plvap
Ensembl Gene ENSMUSG00000034845
Gene Name plasmalemma vesicle associated protein
Synonyms MECA32, PV-1
MMRRC Submission 042878-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R5295 (G1)
Quality Score 202
Status Not validated
Chromosome 8
Chromosomal Location 71950409-71964396 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71964314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 16 (Q16R)
Ref Sequence ENSEMBL: ENSMUSP00000035404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048452]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000048452
AA Change: Q16R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035404
Gene: ENSMUSG00000034845
AA Change: Q16R

DomainStartEndE-ValueType
Pfam:PV-1 1 436 1.1e-231 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display background sensitive lethality, absence of diaphragms from fenestrated endothelia, increased vascular permeability, hypoproteinemia, ascites, edema, xanthoma and increased plasma triglyceride levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 C T 18: 65,438,109 (GRCm39) E1095K probably damaging Het
Alpl T C 4: 137,476,919 (GRCm39) T245A probably benign Het
Ank2 T C 3: 126,825,832 (GRCm39) H378R probably damaging Het
Arhgef1 G A 7: 24,618,777 (GRCm39) probably null Het
Atp5f1c T C 2: 10,073,544 (GRCm39) R10G possibly damaging Het
Cbln3 T C 14: 56,120,920 (GRCm39) probably null Het
Ccr10 C T 11: 101,065,111 (GRCm39) V140M possibly damaging Het
Cep135 T A 5: 76,741,051 (GRCm39) H42Q possibly damaging Het
Commd5 C A 15: 76,785,152 (GRCm39) T183K possibly damaging Het
Dnajc16 T C 4: 141,495,239 (GRCm39) E493G possibly damaging Het
Ears2 T C 7: 121,647,421 (GRCm39) R288G probably damaging Het
Elovl4 G A 9: 83,662,714 (GRCm39) P273L possibly damaging Het
Fam186b T A 15: 99,181,755 (GRCm39) I148F probably damaging Het
Fryl T C 5: 73,270,134 (GRCm39) Y79C probably damaging Het
Gad1-ps A G 10: 99,280,751 (GRCm39) noncoding transcript Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Ighv1-77 T A 12: 115,825,528 (GRCm39) S104C probably damaging Het
Kcnv1 T C 15: 44,977,987 (GRCm39) D17G unknown Het
Lmtk3 G A 7: 45,440,722 (GRCm39) D243N probably damaging Het
Lrrc7 T A 3: 157,876,376 (GRCm39) K571N probably damaging Het
Lsm7 T C 10: 80,690,454 (GRCm39) E32G probably damaging Het
Ly6f A G 15: 75,143,488 (GRCm39) Q65R probably benign Het
Perm1 T C 4: 156,301,975 (GRCm39) L173P probably benign Het
Prb1c T G 6: 132,338,840 (GRCm39) Q126P unknown Het
Prl7d1 A T 13: 27,893,230 (GRCm39) V227D probably damaging Het
Prss54 T C 8: 96,291,106 (GRCm39) T165A probably damaging Het
Psrc1 A G 3: 108,293,675 (GRCm39) I195V probably benign Het
Rnf123 AT ATT 9: 107,941,202 (GRCm39) probably null Het
Rnf213 A T 11: 119,331,642 (GRCm39) T2284S probably benign Het
Serpina3c T C 12: 104,114,637 (GRCm39) E333G probably damaging Het
Serpinb6c A G 13: 34,077,800 (GRCm39) F190S probably damaging Het
Sfmbt1 G A 14: 30,495,986 (GRCm39) D90N probably damaging Het
Tdh T C 14: 63,733,558 (GRCm39) Y110C probably damaging Het
Tdrd9 T A 12: 112,018,346 (GRCm39) L1255* probably null Het
Trim41 TTCCTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCCTCC 11: 48,707,084 (GRCm39) probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Zbtb2 T C 10: 4,318,508 (GRCm39) K506R probably damaging Het
Zmiz1 T C 14: 25,656,771 (GRCm39) L800P probably damaging Het
Znhit6 A G 3: 145,306,248 (GRCm39) D251G probably benign Het
Other mutations in Plvap
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0281:Plvap UTSW 8 71,964,026 (GRCm39) missense probably damaging 1.00
R0848:Plvap UTSW 8 71,959,526 (GRCm39) missense probably damaging 1.00
R1466:Plvap UTSW 8 71,961,125 (GRCm39) missense probably benign
R1466:Plvap UTSW 8 71,961,125 (GRCm39) missense probably benign
R1491:Plvap UTSW 8 71,964,116 (GRCm39) missense probably damaging 1.00
R1584:Plvap UTSW 8 71,961,125 (GRCm39) missense probably benign
R4526:Plvap UTSW 8 71,960,415 (GRCm39) missense probably damaging 1.00
R4777:Plvap UTSW 8 71,960,630 (GRCm39) missense probably benign 0.19
R4939:Plvap UTSW 8 71,964,083 (GRCm39) missense probably benign 0.02
R5275:Plvap UTSW 8 71,964,314 (GRCm39) missense probably benign
R5439:Plvap UTSW 8 71,964,095 (GRCm39) missense probably damaging 0.98
R5513:Plvap UTSW 8 71,964,173 (GRCm39) missense probably damaging 1.00
R7229:Plvap UTSW 8 71,964,221 (GRCm39) missense probably damaging 1.00
R8151:Plvap UTSW 8 71,960,625 (GRCm39) missense probably benign 0.12
R8421:Plvap UTSW 8 71,964,176 (GRCm39) missense probably damaging 1.00
R9245:Plvap UTSW 8 71,964,323 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- TGTGAGGCAGATAGTCCAACC -3'
(R):5'- GGAGTGTTGTGATAACCCACAG -3'

Sequencing Primer
(F):5'- GATAGTCCAACCACCTGGCTG -3'
(R):5'- GTTGTGATAACCCACAGTCCCC -3'
Posted On 2016-07-22