Mutagenetix > Incidental Mutation

Incidental Mutation 'R7229:Plvap'

562357

Institutional Source

Beutler Lab

Gene Symbol

Plvap

Ensembl Gene

ENSMUSG00000034845

Gene Name

plasmalemma vesicle associated protein

Synonyms

MECA32, PV-1

MMRRC Submission

045301-MU

Accession Numbers

Essential gene?

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

Stock #

R7229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71950409-71964396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71964221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 47 (I47N)

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: I47N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035404
Gene: ENSMUSG00000034845
AA Change: I47N

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: 98.8%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,832,809 (GRCm39)	E122G	probably benign	Het
Adamts2	T	C	11: 50,682,647 (GRCm39)	Y880H	probably damaging	Het
Atp13a4	A	G	16: 29,239,723 (GRCm39)	S830P	probably benign	Het
Atp1a3	T	A	7: 24,687,410 (GRCm39)	Q696L	probably benign	Het
Brox	G	A	1: 183,073,523 (GRCm39)	R85*	probably null	Het
C130073F10Rik	T	C	4: 101,747,439 (GRCm39)	I197V	probably benign	Het
Cand2	G	A	6: 115,768,153 (GRCm39)	V433M	probably damaging	Het
Cep83	A	G	10: 94,555,527 (GRCm39)	K74E	probably damaging	Het
Chrng	A	T	1: 87,137,166 (GRCm39)	T275S	probably benign	Het
Clca3a2	T	C	3: 144,789,869 (GRCm39)	D489G	probably damaging	Het
Cmtr1	A	G	17: 29,914,398 (GRCm39)		probably null	Het
Cnga1	T	C	5: 72,775,592 (GRCm39)	N43S	probably benign	Het
Cog8	A	T	8: 107,782,984 (GRCm39)	C102S	probably damaging	Het
Cpsf3	G	A	12: 21,346,738 (GRCm39)		probably null	Het
Cyp26b1	G	A	6: 84,554,132 (GRCm39)	Q162*	probably null	Het
Elmod3	A	G	6: 72,571,736 (GRCm39)	F14S	probably benign	Het
Eps8	A	G	6: 137,516,354 (GRCm39)	S9P	probably benign	Het
Fam184b	T	C	5: 45,741,517 (GRCm39)	Q238R	probably damaging	Het
Fbxw7	T	C	3: 84,884,676 (GRCm39)	L654S	unknown	Het
Foxp1	A	T	6: 98,912,373 (GRCm39)	L580Q	unknown	Het
Galr1	A	G	18: 82,423,789 (GRCm39)	S163P	probably damaging	Het
Ganc	T	C	2: 120,258,256 (GRCm39)	F201L	possibly damaging	Het
Gin1	T	C	1: 97,712,876 (GRCm39)	F310L	probably benign	Het
Grik2	A	T	10: 48,977,512 (GRCm39)		probably null	Het
Haus1	A	T	18: 77,851,834 (GRCm39)	F94I	probably benign	Het
Hcn4	A	G	9: 58,760,682 (GRCm39)	Y409C	unknown	Het
Hspa1l	A	G	17: 35,196,231 (GRCm39)	K90R	probably benign	Het
Icam5	T	C	9: 20,948,297 (GRCm39)	S702P	possibly damaging	Het
Ifnar1	A	G	16: 91,296,444 (GRCm39)	H315R	probably benign	Het
Klra9	T	C	6: 130,168,224 (GRCm39)	H14R	probably damaging	Het
Krt78	A	G	15: 101,855,829 (GRCm39)	Y661H	probably benign	Het
Krtap11-1	T	C	16: 89,367,813 (GRCm39)	T69A	possibly damaging	Het
L3mbtl3	C	A	10: 26,168,560 (GRCm39)	S598I	unknown	Het
Lama1	A	T	17: 68,059,441 (GRCm39)	D608V		Het
Lrrc55	G	A	2: 85,026,784 (GRCm39)	T80I	probably damaging	Het
Lyst	A	T	13: 13,818,094 (GRCm39)	T1255S	probably benign	Het
Magi2	T	C	5: 20,670,586 (GRCm39)	V310A	probably damaging	Het
Med23	C	A	10: 24,777,902 (GRCm39)	A750D	probably benign	Het
Mmp2	G	A	8: 93,558,414 (GRCm39)	R161Q	probably damaging	Het
Myo15a	A	T	11: 60,387,321 (GRCm39)	I733F	probably benign	Het
Ncan	A	T	8: 70,552,961 (GRCm39)	F1090L	possibly damaging	Het
Or2ag2b	T	G	7: 106,418,202 (GRCm39)	V304G	probably damaging	Het
Otulinl	G	A	15: 27,658,273 (GRCm39)	T199M	probably benign	Het
Pafah1b1	A	G	11: 74,573,104 (GRCm39)	I320T	probably damaging	Het
Pcdhb1	T	A	18: 37,399,740 (GRCm39)	Y564N	probably damaging	Het
Pear1	A	G	3: 87,657,596 (GRCm39)	S988P	probably benign	Het
Pgam2	A	C	11: 5,753,013 (GRCm39)	V194G	probably damaging	Het
Prdx6	A	T	1: 161,074,867 (GRCm39)	L71H	probably damaging	Het
Psmb11	G	A	14: 54,863,408 (GRCm39)	V209M	probably damaging	Het
Ptprn2	G	A	12: 117,190,845 (GRCm39)		probably null	Het
Rcn2	T	A	9: 55,964,763 (GRCm39)	N240K	probably benign	Het
Rsad2	A	T	12: 26,504,122 (GRCm39)	Y136N	probably damaging	Het
Slc12a4	T	G	8: 106,673,369 (GRCm39)	Q734P	probably benign	Het
Smarcc2	T	A	10: 128,323,917 (GRCm39)	M1085K	unknown	Het
Smg1	A	T	7: 117,776,178 (GRCm39)	C1371S	probably benign	Het
Spg11	A	T	2: 121,938,585 (GRCm39)	F456L	probably damaging	Het
Srsf10	C	T	4: 135,583,528 (GRCm39)		probably benign	Het
Stxbp5	T	C	10: 9,673,931 (GRCm39)	Y4C	probably damaging	Het
Tdrd12	T	A	7: 35,179,705 (GRCm39)	D881V	unknown	Het
Tmem171	T	C	13: 98,829,133 (GRCm39)	T6A	probably benign	Het
Tmem220	T	C	11: 66,916,989 (GRCm39)	L55P	unknown	Het
Ttn	G	T	2: 76,677,125 (GRCm39)	P11037Q	unknown	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Usp47	T	C	7: 111,692,084 (GRCm39)	S849P	probably benign	Het
Vcan	G	A	13: 89,853,389 (GRCm39)	P524S	possibly damaging	Het
Vmn1r18	A	G	6: 57,367,083 (GRCm39)	M157T	probably benign	Het
Vmn2r109	A	T	17: 20,761,225 (GRCm39)	C711S	possibly damaging	Het
Wasf3	C	T	5: 146,392,463 (GRCm39)	R178C	probably damaging	Het
Wdr76	G	A	2: 121,359,401 (GRCm39)	V231I	probably damaging	Het
Xirp2	A	T	2: 67,355,895 (GRCm39)	N3552I	probably damaging	Het
Zfp804a	A	G	2: 82,088,969 (GRCm39)	T933A	probably benign	Het
Zmynd8	A	G	2: 165,699,973 (GRCm39)		probably null	Het
Zranb3	A	T	1: 127,968,630 (GRCm39)	I95K	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
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
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'- GTCAACAGTTGCTGCATGAC -3'
(R):5'- TGTGATAACCCACAGTCCCC -3'

Sequencing Primer
(F):5'- GCATGACTGTTTCCTTGACAAG -3'
(R):5'- TTCAGATCTGGCCAGGCAGAC -3'

Posted On

2019-06-26