Mutagenetix > Incidental Mutation

Incidental Mutation 'R5439:Plvap'

428524

Institutional Source

Beutler Lab

Gene Symbol

Plvap

Ensembl Gene

ENSMUSG00000034845

Gene Name

plasmalemma vesicle associated protein

Synonyms

MECA32, PV-1

MMRRC Submission

043004-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5439 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71950409-71964396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 71964095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 89 (I89S)

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: I89S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035404
Gene: ENSMUSG00000034845
AA Change: I89S

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	T	4: 144,504,683 (GRCm39)	I156N	probably damaging	Het
Abca1	C	A	4: 53,042,381 (GRCm39)	R1897L	possibly damaging	Het
Ablim2	A	G	5: 36,015,170 (GRCm39)	K461E	probably damaging	Het
Acss3	A	T	10: 106,773,008 (GRCm39)	Y659*	probably null	Het
Actr8	T	G	14: 29,708,952 (GRCm39)	L253R	probably damaging	Het
Arid4b	A	G	13: 14,362,281 (GRCm39)	K915R	probably damaging	Het
C3	T	C	17: 57,511,502 (GRCm39)	E1560G	probably benign	Het
Cacna1c	A	T	6: 118,631,333 (GRCm39)	I1013N	probably damaging	Het
Cep83	G	A	10: 94,625,600 (GRCm39)	R670H	probably benign	Het
Col19a1	T	A	1: 24,332,193 (GRCm39)	D870V	probably damaging	Het
Ddr2	A	G	1: 169,832,298 (GRCm39)	V164A	possibly damaging	Het
Dnaaf10	A	G	11: 17,162,031 (GRCm39)	D23G	possibly damaging	Het
Donson	A	T	16: 91,476,814 (GRCm39)	V549E	probably damaging	Het
Egflam	C	T	15: 7,254,144 (GRCm39)	G824R	probably damaging	Het
Extl3	A	G	14: 65,292,075 (GRCm39)	F916S	probably damaging	Het
Fam110c	A	G	12: 31,124,406 (GRCm39)	M123V	unknown	Het
G3bp1	A	T	11: 55,388,813 (GRCm39)	I342F	probably damaging	Het
Golgb1	A	G	16: 36,720,870 (GRCm39)	N409D	probably benign	Het
Grin2b	C	T	6: 135,713,304 (GRCm39)	G859D	probably damaging	Het
Hspb1	A	T	5: 135,918,186 (GRCm39)	T178S	probably benign	Het
Iigp1	A	G	18: 60,523,329 (GRCm39)	Y149C	probably damaging	Het
Il22	G	T	10: 118,045,366 (GRCm39)	G159*	probably null	Het
Jcad	T	C	18: 4,675,790 (GRCm39)	F1184S	probably damaging	Het
Kcnj2	G	T	11: 110,963,057 (GRCm39)	V150L	probably damaging	Het
Kifc1	C	T	17: 34,105,639 (GRCm39)	R56Q	probably damaging	Het
Lce1h	A	G	3: 92,671,027 (GRCm39)	S42P	unknown	Het
Lrp4	C	A	2: 91,327,418 (GRCm39)	D1471E	probably benign	Het
Lrrc3	C	A	10: 77,737,299 (GRCm39)	V46L	probably benign	Het
Mcf2l	G	A	8: 12,976,646 (GRCm39)	A2T	possibly damaging	Het
Med12l	G	A	3: 59,170,634 (GRCm39)	C1673Y	probably null	Het
Nckap1	T	C	2: 80,343,034 (GRCm39)	E955G	possibly damaging	Het
Ndufs3	T	A	2: 90,732,690 (GRCm39)		probably null	Het
Nkx6-1	A	G	5: 101,809,698 (GRCm39)		probably null	Het
Obscn	C	A	11: 58,890,954 (GRCm39)	E1713*	probably null	Het
Or10ak12	G	A	4: 118,666,560 (GRCm39)	T167I	possibly damaging	Het
Or10g1b	A	G	14: 52,627,582 (GRCm39)	F216S	probably damaging	Het
Or10n1	A	G	9: 39,524,916 (GRCm39)	T18A	probably benign	Het
Or2n1	T	A	17: 38,486,917 (GRCm39)		probably null	Het
Or6n1	A	G	1: 173,917,541 (GRCm39)	R312G	probably benign	Het
Or7e165	A	C	9: 19,695,161 (GRCm39)	H244P	probably damaging	Het
Or8c15	A	G	9: 38,121,050 (GRCm39)	T234A	probably benign	Het
Osbpl5	A	G	7: 143,295,433 (GRCm39)	F10L	possibly damaging	Het
Ppp2r2a	A	G	14: 67,259,772 (GRCm39)	V308A	possibly damaging	Het
Ppp2r5e	T	C	12: 75,540,250 (GRCm39)	S132G	probably benign	Het
Pum3	G	T	19: 27,389,659 (GRCm39)	Q398K	probably benign	Het
Ralgapa2	T	C	2: 146,184,430 (GRCm39)	T1526A	probably benign	Het
Sh3tc2	T	A	18: 62,122,704 (GRCm39)	Y488*	probably null	Het
Spmip7	A	T	11: 11,440,244 (GRCm39)	R8S	possibly damaging	Het
Sqle	A	G	15: 59,202,753 (GRCm39)	Y537C	probably benign	Het
Sult2a8	T	G	7: 14,159,439 (GRCm39)	K60T	probably damaging	Het
Tex15	T	C	8: 34,064,199 (GRCm39)	S1210P	possibly damaging	Het
Thumpd3	A	G	6: 113,043,825 (GRCm39)		silent	Het
Timeless	A	G	10: 128,077,604 (GRCm39)	D228G	probably damaging	Het
Trim31	A	T	17: 37,216,797 (GRCm39)		probably null	Het
Ttc39c	A	T	18: 12,828,428 (GRCm39)	D196V	possibly damaging	Het
Wbp4	C	A	14: 79,709,837 (GRCm39)	V133L	possibly damaging	Het
Zfp354c	G	T	11: 50,706,597 (GRCm39)	D159E	probably benign	Het
Zfp940	C	A	7: 29,544,858 (GRCm39)	D350Y	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
R5295:Plvap	UTSW	8	71,964,314 (GRCm39)	missense	probably benign
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'- CCAGATTTCTTCCCATGGAGTTTAG -3'
(R):5'- AAATGGGGCTCTCCATGGAC -3'

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

Posted On

2016-09-01