Mutagenetix > Incidental Mutation

Incidental Mutation 'R8421:Plvap'

653202

Institutional Source

Beutler Lab

Gene Symbol

Plvap

Ensembl Gene

ENSMUSG00000034845

Gene Name

plasmalemma vesicle associated protein

Synonyms

MECA32, PV-1

MMRRC Submission

067898-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R8421 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71950409-71964396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71964176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 62 (T62M)

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: T62M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035404
Gene: ENSMUSG00000034845
AA Change: T62M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	T	C	14: 54,880,486 (GRCm39)	E1239G	unknown	Het
Actn3	T	C	19: 4,911,741 (GRCm39)	M806V	probably benign	Het
Adcy7	A	G	8: 89,048,812 (GRCm39)	T676A	probably benign	Het
Ankef1	C	A	2: 136,379,085 (GRCm39)	Q12K	probably damaging	Het
Ankrd40	G	T	11: 94,225,662 (GRCm39)	G231V	probably damaging	Het
Atad5	T	A	11: 79,985,384 (GRCm39)	V157D	probably damaging	Het
Atp6v1b1	T	A	6: 83,730,791 (GRCm39)	M163K	probably damaging	Het
Atp7b	A	T	8: 22,518,487 (GRCm39)	M117K	probably benign	Het
Ccdc87	T	C	19: 4,891,313 (GRCm39)	Y602H	possibly damaging	Het
Cdh16	C	T	8: 105,348,602 (GRCm39)	R142K	probably benign	Het
Chrnb3	G	A	8: 27,886,718 (GRCm39)	V431I	probably damaging	Het
Csf1r	A	G	18: 61,260,966 (GRCm39)	D719G	probably damaging	Het
Ctsll3	A	G	13: 60,948,595 (GRCm39)	F88S	probably damaging	Het
Dglucy	A	G	12: 100,808,938 (GRCm39)	Y212C	probably damaging	Het
Dnase1l3	T	C	14: 7,968,122 (GRCm38)	D261G	possibly damaging	Het
Dync2h1	T	C	9: 7,102,477 (GRCm39)	D2641G	probably damaging	Het
Fat3	A	T	9: 15,909,480 (GRCm39)	V2174D	probably damaging	Het
Gtf3c1	A	G	7: 125,298,142 (GRCm39)	L244P	probably damaging	Het
Hcn4	T	A	9: 58,765,379 (GRCm39)	D620E	unknown	Het
Ide	A	G	19: 37,255,403 (GRCm39)	V800A		Het
Ikbkb	A	T	8: 23,168,804 (GRCm39)		probably null	Het
Lin9	T	A	1: 180,493,365 (GRCm39)	F197Y	probably damaging	Het
Lrp1b	T	A	2: 40,615,435 (GRCm39)	Y3656F		Het
Mapkbp1	C	A	2: 119,849,431 (GRCm39)	N708K	probably damaging	Het
Marveld3	A	G	8: 110,675,279 (GRCm39)	M179T	probably benign	Het
Mrpl1	C	G	5: 96,374,226 (GRCm39)	A167G	probably benign	Het
Mrpl35	T	C	6: 71,793,151 (GRCm39)	K167E	probably damaging	Het
Myo3a	T	C	2: 22,366,935 (GRCm39)	V594A	probably benign	Het
Nav2	A	G	7: 49,102,269 (GRCm39)	T356A	probably benign	Het
Nup210l	A	G	3: 90,111,174 (GRCm39)	Y1692C	probably damaging	Het
Or8k22	T	A	2: 86,163,247 (GRCm39)	Y151F	possibly damaging	Het
Otoa	G	A	7: 120,698,491 (GRCm39)		probably null	Het
Oxnad1	T	G	14: 31,821,431 (GRCm39)	I172S	probably benign	Het
Padi4	C	A	4: 140,475,533 (GRCm39)	C544F	probably damaging	Het
Pard3	A	C	8: 127,867,158 (GRCm39)		probably benign	Het
Potefam1	T	A	2: 111,048,955 (GRCm39)	K275*	probably null	Het
Prdm8	C	T	5: 98,333,822 (GRCm39)	A463V	probably damaging	Het
Prss21	T	A	17: 24,088,342 (GRCm39)	D102E	possibly damaging	Het
Psmb10	G	T	8: 106,663,342 (GRCm39)	Q182K	probably benign	Het
Rasgrf1	C	T	9: 89,849,968 (GRCm39)	P319S	probably damaging	Het
Rock1	G	A	18: 10,072,863 (GRCm39)	Q1161*	probably null	Het
Ryr3	T	C	2: 112,826,929 (GRCm39)	E112G	probably benign	Het
Samm50	A	G	15: 84,094,786 (GRCm39)	T393A	probably benign	Het
Slc9c1	A	G	16: 45,413,734 (GRCm39)	E954G	probably damaging	Het
Sulf2	T	A	2: 165,958,972 (GRCm39)	I79F	probably benign	Het
Tbx21	T	C	11: 97,005,561 (GRCm39)	K135E	probably benign	Het
Ube2q2l	T	C	6: 136,378,350 (GRCm39)	E160G	probably damaging	Het
Unc13b	A	G	4: 43,178,304 (GRCm39)	E3044G	unknown	Het
Usf3	A	T	16: 44,037,572 (GRCm39)	Q684L	possibly damaging	Het
Vmn1r114	A	T	7: 20,545,459 (GRCm39)	M218K	possibly damaging	Het
Vmn1r203	T	G	13: 22,709,154 (GRCm39)	*312G	probably null	Het
Vmn2r67	A	C	7: 84,785,893 (GRCm39)	L704R	probably damaging	Het
Zfp618	A	G	4: 63,051,483 (GRCm39)	T755A	probably damaging	Het
Zp3	A	G	5: 136,017,331 (GRCm39)	T381A	probably benign	Het
Zscan20	T	C	4: 128,479,620 (GRCm39)	D957G	probably damaging	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
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
R9245:Plvap	UTSW	8	71,964,323 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CCATGGAGTTTAGCATTTGGGC -3'
(R):5'- AAATGGGGCTCTCCATGGAC -3'

Sequencing Primer
(F):5'- TTAGCATTTGGGCGCACC -3'
(R):5'- ATGGACCGCAGCCCATACG -3'

Posted On

2020-10-20