Mutagenetix > Incidental Mutation

Incidental Mutation 'R1484:Plin2'

163293

Institutional Source

Beutler Lab

Gene Symbol

Plin2

Ensembl Gene

ENSMUSG00000028494

Gene Name

perilipin 2

Synonyms

Adrp, ADPH, adipophilin, Adfp

MMRRC Submission

039537-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R1484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86566623-86588297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86575481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 356 (R356H)

Ref Sequence

ENSEMBL: ENSMUSP00000000466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000466] [ENSMUST00000140382] [ENSMUST00000147097] [ENSMUST00000149700]

AlphaFold

P43883

Predicted Effect

probably benign
Transcript: ENSMUST00000000466
AA Change: R356H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000000466
Gene: ENSMUSG00000028494
AA Change: R356H

Domain	Start	End	E-Value	Type
Pfam:Perilipin	6	393	5.3e-158	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138605

Predicted Effect

probably benign
Transcript: ENSMUST00000140382

SMART Domains

Protein: ENSMUSP00000123456
Gene: ENSMUSG00000028494

Domain	Start	End	E-Value	Type
Pfam:Perilipin	1	196	5.2e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147097

SMART Domains

Protein: ENSMUSP00000119063
Gene: ENSMUSG00000028494

Domain	Start	End	E-Value	Type
Pfam:Perilipin	1	157	3.1e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149700

SMART Domains

Protein: ENSMUSP00000123333
Gene: ENSMUSG00000028494

Domain	Start	End	E-Value	Type
Pfam:Perilipin	1	196	5.2e-83	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154999

Meta Mutation Damage Score

0.0721

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

97% (85/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the perilipin family, members of which coat intracellular lipid storage droplets. This protein is associated with the lipid globule surface membrane material, and maybe involved in development and maintenance of adipose tissue. However, it is not restricted to adipocytes as previously thought, but is found in a wide range of cultured cell lines, including fibroblasts, endothelial and epithelial cells, and tissues, such as lactating mammary gland, adrenal cortex, Sertoli and Leydig cells, and hepatocytes in alcoholic liver cirrhosis, suggesting that it may serve as a marker of lipid accumulation in diverse cell types and diseases. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygotes for null mutations are resistant to diet-induced obesity and hepatic steatosis and may exhibit altered milk composition, vision abnormalities, or small sebaceous glands. Male mice homozygous for a gene trap allele are infertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	T	5: 26,684,776 (GRCm39)		noncoding transcript	Het
Acvr1	A	T	2: 58,369,901 (GRCm39)	V36E	probably damaging	Het
Aldh4a1	A	G	4: 139,370,758 (GRCm39)	I414V	probably benign	Het
Alox5	C	T	6: 116,431,128 (GRCm39)	C100Y	probably damaging	Het
Ano5	T	A	7: 51,216,068 (GRCm39)	D348E	probably damaging	Het
Arhgap30	G	A	1: 171,230,839 (GRCm39)	V199M	probably damaging	Het
Arl13b	T	A	16: 62,626,999 (GRCm39)	Q234L	probably benign	Het
Atxn1	C	A	13: 45,711,052 (GRCm39)	E627*	probably null	Het
Bend3	T	C	10: 43,386,197 (GRCm39)	F197L	probably benign	Het
Brca1	A	T	11: 101,420,638 (GRCm39)	V190E	possibly damaging	Het
Brpf1	T	C	6: 113,292,096 (GRCm39)	W381R	probably damaging	Het
Brwd1	A	C	16: 95,829,491 (GRCm39)		probably null	Het
C1s2	T	C	6: 124,602,604 (GRCm39)	I530V	possibly damaging	Het
C2cd3	C	T	7: 100,089,397 (GRCm39)	R1638W	probably damaging	Het
Capns1	T	A	7: 29,893,511 (GRCm39)		probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cep126	G	A	9: 8,100,554 (GRCm39)	T660I	possibly damaging	Het
Cep295	A	C	9: 15,246,080 (GRCm39)	I744R	probably damaging	Het
Chd3	T	C	11: 69,250,725 (GRCm39)	E668G	probably benign	Het
Chek2	A	G	5: 110,996,553 (GRCm39)	T172A	probably damaging	Het
Col6a4	A	G	9: 105,890,501 (GRCm39)		probably null	Het
Coq3	G	A	4: 21,900,291 (GRCm39)	V173I	probably benign	Het
Cyp4x1	A	T	4: 114,970,098 (GRCm39)	I343N	probably damaging	Het
Dnah7b	T	A	1: 46,176,703 (GRCm39)	D774E	probably benign	Het
Dnai3	T	C	3: 145,802,996 (GRCm39)	D65G	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Esrra	T	C	19: 6,890,197 (GRCm39)	Y209C	probably damaging	Het
Gpr149	A	T	3: 62,502,592 (GRCm39)	D421E	probably benign	Het
Gpr15	T	C	16: 58,538,937 (GRCm39)	N51D	probably damaging	Het
Gpr156	T	C	16: 37,812,558 (GRCm39)	V298A	probably damaging	Het
Hmcn2	G	A	2: 31,236,507 (GRCm39)	G350D	probably damaging	Het
Ifih1	A	T	2: 62,440,902 (GRCm39)	N421K	probably benign	Het
Ilvbl	C	A	10: 78,412,564 (GRCm39)	T95K	probably damaging	Het
Itgb4	T	A	11: 115,890,625 (GRCm39)	D1104E	probably benign	Het
Katnip	C	A	7: 125,415,743 (GRCm39)		probably benign	Het
Lipf	A	T	19: 33,942,180 (GRCm39)	M37L	probably benign	Het
Lyst	T	A	13: 13,852,775 (GRCm39)	N2258K	probably benign	Het
Moxd1	A	G	10: 24,099,758 (GRCm39)	Y86C	probably damaging	Het
Muc5ac	T	C	7: 141,367,629 (GRCm39)		probably null	Het
Myo16	G	A	8: 10,610,145 (GRCm39)	R1162H	probably damaging	Het
Myo5c	A	T	9: 75,208,092 (GRCm39)	N1609Y	probably damaging	Het
Nbeal1	T	C	1: 60,240,098 (GRCm39)	F155L	probably damaging	Het
Nek4	A	T	14: 30,704,290 (GRCm39)	M602L	possibly damaging	Het
Nek9	A	G	12: 85,348,622 (GRCm39)	S971P	probably damaging	Het
Nfya	A	T	17: 48,700,570 (GRCm39)		probably benign	Het
Nrxn3	A	T	12: 89,221,547 (GRCm39)	N442I	probably damaging	Het
Nup42	A	C	5: 24,383,075 (GRCm39)	K200N	probably benign	Het
Or1e26	T	A	11: 73,480,187 (GRCm39)	I126L	possibly damaging	Het
Or4c111	G	A	2: 88,843,713 (GRCm39)	R232*	probably null	Het
Or7g32	G	A	9: 19,389,423 (GRCm39)	T38I	probably damaging	Het
Pcdh15	T	A	10: 74,126,833 (GRCm39)	I304N	probably damaging	Het
Pigo	G	C	4: 43,024,779 (GRCm39)	P107A	probably damaging	Het
Plce1	C	T	19: 38,693,783 (GRCm39)	Q769*	probably null	Het
Ppp1r9a	G	T	6: 5,113,712 (GRCm39)	E739*	probably null	Het
Ppp3cc	G	T	14: 70,478,397 (GRCm39)	N268K	probably damaging	Het
Prkag3	T	A	1: 74,779,919 (GRCm39)	D472V	probably damaging	Het
Ptch2	A	T	4: 116,968,046 (GRCm39)	D846V	probably damaging	Het
Rhob	A	T	12: 8,549,388 (GRCm39)	M82K	probably damaging	Het
Rps6kc1	T	A	1: 190,531,672 (GRCm39)	R777W	possibly damaging	Het
Sap130	T	A	18: 31,844,380 (GRCm39)	V850E	probably damaging	Het
Sema3a	T	G	5: 13,523,407 (GRCm39)	N125K	probably damaging	Het
Sema5a	A	G	15: 32,460,431 (GRCm39)	D64G	probably damaging	Het
Sgo2b	T	A	8: 64,384,507 (GRCm39)	D163V	possibly damaging	Het
Slc15a1	A	T	14: 121,728,651 (GRCm39)	Y31*	probably null	Het
Smchd1	A	T	17: 71,685,252 (GRCm39)	M1392K	probably benign	Het
Sobp	T	A	10: 43,036,827 (GRCm39)	N37I	probably damaging	Het
Spock3	G	T	8: 63,673,739 (GRCm39)	C142F	probably damaging	Het
Stx6	A	C	1: 155,053,650 (GRCm39)	S86R	probably benign	Het
Sult2a4	C	A	7: 13,643,726 (GRCm39)	M280I	probably benign	Het
Synm	A	T	7: 67,386,080 (GRCm39)	D527E	probably damaging	Het
Tax1bp1	C	T	6: 52,710,305 (GRCm39)	R195W	probably damaging	Het
Themis2	A	T	4: 132,519,796 (GRCm39)	N76K	possibly damaging	Het
Tmem8b	A	G	4: 43,690,234 (GRCm39)	T890A	probably benign	Het
Traf7	T	A	17: 24,730,785 (GRCm39)	H366L	possibly damaging	Het
Trim30c	A	T	7: 104,032,459 (GRCm39)	V289D	probably benign	Het
Tsr1	T	A	11: 74,792,914 (GRCm39)	D407E	probably damaging	Het
Ubap2	G	T	4: 41,235,593 (GRCm39)	A33E	probably damaging	Het
Unc13d	C	A	11: 115,964,701 (GRCm39)	R255L	possibly damaging	Het
Ush2a	G	T	1: 188,542,534 (GRCm39)	G3367*	probably null	Het
Vmn1r229	T	C	17: 21,034,791 (GRCm39)	L12P	probably damaging	Het
Vmn2r27	C	A	6: 124,177,474 (GRCm39)	G510V	probably damaging	Het
Vps4b	T	C	1: 106,707,712 (GRCm39)	E257G	probably damaging	Het
Vps72	T	C	3: 95,026,462 (GRCm39)	S136P	probably damaging	Het
Wdr36	T	C	18: 32,976,938 (GRCm39)	I181T	possibly damaging	Het
Wfikkn1	C	T	17: 26,096,765 (GRCm39)	A520T	probably benign	Het

Other mutations in Plin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00826:Plin2	APN	4	86,582,683 (GRCm39)	missense	possibly damaging	0.88
IGL02501:Plin2	APN	4	86,582,723 (GRCm39)	nonsense	probably null
IGL02551:Plin2	APN	4	86,576,929 (GRCm39)	missense	probably benign	0.00
IGL03294:Plin2	APN	4	86,580,315 (GRCm39)	missense	probably damaging	0.96
R2165:Plin2	UTSW	4	86,586,669 (GRCm39)	missense	probably damaging	1.00
R2870:Plin2	UTSW	4	86,586,915 (GRCm39)	start codon destroyed	probably null	0.99
R2870:Plin2	UTSW	4	86,586,915 (GRCm39)	start codon destroyed	probably null	0.99
R2871:Plin2	UTSW	4	86,586,915 (GRCm39)	start codon destroyed	probably null	0.99
R2871:Plin2	UTSW	4	86,586,915 (GRCm39)	start codon destroyed	probably null	0.99
R2872:Plin2	UTSW	4	86,586,915 (GRCm39)	start codon destroyed	probably null	0.99
R2872:Plin2	UTSW	4	86,586,915 (GRCm39)	start codon destroyed	probably null	0.99
R2873:Plin2	UTSW	4	86,586,915 (GRCm39)	start codon destroyed	probably null	0.99
R3125:Plin2	UTSW	4	86,575,381 (GRCm39)	nonsense	probably null
R4948:Plin2	UTSW	4	86,580,228 (GRCm39)	missense	probably benign	0.00
R5189:Plin2	UTSW	4	86,575,383 (GRCm39)	missense	probably damaging	1.00
R5563:Plin2	UTSW	4	86,580,341 (GRCm39)	missense	probably benign	0.01
R6229:Plin2	UTSW	4	86,586,903 (GRCm39)	missense	probably benign
R6258:Plin2	UTSW	4	86,575,526 (GRCm39)	missense	probably damaging	0.97
R6260:Plin2	UTSW	4	86,575,526 (GRCm39)	missense	probably damaging	0.97
R6391:Plin2	UTSW	4	86,580,236 (GRCm39)	missense	probably null	0.99
R6470:Plin2	UTSW	4	86,586,607 (GRCm39)	missense	probably damaging	1.00
R6493:Plin2	UTSW	4	86,580,224 (GRCm39)	missense	possibly damaging	0.80
R6562:Plin2	UTSW	4	86,576,832 (GRCm39)	missense	probably benign	0.07
R6706:Plin2	UTSW	4	86,578,357 (GRCm39)	missense	probably benign	0.02
R7310:Plin2	UTSW	4	86,586,628 (GRCm39)	missense	probably benign	0.03
R8057:Plin2	UTSW	4	86,575,638 (GRCm39)	missense	possibly damaging	0.80
R8171:Plin2	UTSW	4	86,575,349 (GRCm39)	missense	probably damaging	0.99
R9003:Plin2	UTSW	4	86,580,324 (GRCm39)	missense	probably benign	0.08
R9041:Plin2	UTSW	4	86,578,504 (GRCm39)	missense	probably benign
R9789:Plin2	UTSW	4	86,576,914 (GRCm39)	missense	probably damaging	1.00
R9800:Plin2	UTSW	4	86,586,742 (GRCm39)	missense	possibly damaging	0.78
U24488:Plin2	UTSW	4	86,580,314 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTTTGACCTCAGACTGCTGGAC -3'
(R):5'- GGCTCAATCATACACAGCGCCTTC -3'

Sequencing Primer
(F):5'- AGACTGCTGGACCTTCAGG -3'
(R):5'- ACTACATGCCAGACTGTCCT -3'

Posted On

2014-03-28