Mutagenetix > Incidental Mutation

Incidental Mutation 'R5295:Plvap'

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: 0.055) question?

Stock #

R5295 (G1)

Quality Score

202

Status

Not validated

Chromosome

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

Domain	Start	End	E-Value	Type
Pfam:PV-1	1	436	1.1e-231	PFAM

Meta Mutation Damage Score

0.0898

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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