Incidental Mutation 'R4526:Plvap'
ID 334447
Institutional Source Beutler Lab
Gene Symbol Plvap
Ensembl Gene ENSMUSG00000034845
Gene Name plasmalemma vesicle associated protein
Synonyms MECA32, PV-1
MMRRC Submission 041591-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R4526 (G1)
Quality Score 111
Status Not validated
Chromosome 8
Chromosomal Location 71950409-71964396 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71960415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 334 (R334W)
Ref Sequence ENSEMBL: ENSMUSP00000035404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048452]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000048452
AA Change: R334W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035404
Gene: ENSMUSG00000034845
AA Change: R334W

DomainStartEndE-ValueType
Pfam:PV-1 1 436 1.1e-231 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik C T 14: 35,818,535 (GRCm39) R178C probably damaging Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adgre4 C A 17: 56,092,016 (GRCm39) S92* probably null Het
Arl13b T C 16: 62,632,374 (GRCm39) D73G probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Crebzf A C 7: 90,092,968 (GRCm39) E16A possibly damaging Het
D430041D05Rik A G 2: 104,022,778 (GRCm39) probably null Het
Dnah1 C A 14: 31,007,955 (GRCm39) D2151Y probably benign Het
Gli3 A G 13: 15,888,216 (GRCm39) K544E probably damaging Het
Gm17542 T C 10: 58,549,435 (GRCm39) D31G probably null Het
Lcn9 A C 2: 25,714,520 (GRCm39) K128T possibly damaging Het
Lman2l T C 1: 36,477,844 (GRCm39) E164G probably damaging Het
Lpin2 T A 17: 71,544,373 (GRCm39) probably null Het
Ly75 G A 2: 60,161,117 (GRCm39) T900M probably benign Het
Mapk15 A T 15: 75,867,104 (GRCm39) I74F possibly damaging Het
Myh10 C T 11: 68,705,875 (GRCm39) T2007I probably benign Het
Nek1 T C 8: 61,559,978 (GRCm39) S937P probably damaging Het
Oas1b T A 5: 120,960,167 (GRCm39) probably null Het
Or4x6 T C 2: 89,949,016 (GRCm39) K309E probably benign Het
Or5l13 T C 2: 87,779,753 (GRCm39) T275A probably benign Het
Or8h8 C T 2: 86,753,339 (GRCm39) C179Y possibly damaging Het
Otogl G A 10: 107,722,841 (GRCm39) P297S probably damaging Het
Plekhm1 A G 11: 103,286,130 (GRCm39) S102P probably damaging Het
Polr2b T G 5: 77,474,561 (GRCm39) V466G probably damaging Het
Ptpn13 T C 5: 103,649,335 (GRCm39) I246T probably benign Het
Rims2 A T 15: 39,301,113 (GRCm39) K281N probably damaging Het
Scamp4 T C 10: 80,446,891 (GRCm39) F108S probably damaging Het
Snrnp200 A G 2: 127,071,022 (GRCm39) N1101S probably benign Het
Sntb2 C A 8: 107,736,595 (GRCm39) L490M probably damaging Het
Ssu2 A G 6: 112,359,383 (GRCm39) V79A possibly damaging Het
Stard7 A G 2: 127,139,128 (GRCm39) S347G probably benign Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vmn2r6 A G 3: 64,445,145 (GRCm39) V860A probably benign Het
Vmn2r60 A G 7: 41,844,667 (GRCm39) T677A probably damaging Het
Zfp318 T A 17: 46,723,284 (GRCm39) H1762Q probably benign Het
Zmynd8 TTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTG 2: 165,649,527 (GRCm39) probably benign Het
Zng1 A G 19: 24,935,328 (GRCm39) Y59H 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
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
R5295: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'- TTCCCACCATCCCTGCTAAGAG -3'
(R):5'- CAAGATAGAAGAGCTGGCCC -3'

Sequencing Primer
(F):5'- AGCTTCCCTTCCTCAGAGG -3'
(R):5'- CCGTGAGAATGCAGAACT -3'
Posted On 2015-08-18