Mutagenetix > Incidental Mutation

Incidental Mutation 'R6258:Plin2'

506460

Institutional Source

Beutler Lab

Gene Symbol

Plin2

Ensembl Gene

ENSMUSG00000028494

Gene Name

perilipin 2

Synonyms

Adrp, ADPH, adipophilin, Adfp

MMRRC Submission

044375-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R6258 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86566623-86588297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 86575526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 341 (A341D)

Ref Sequence

ENSEMBL: ENSMUSP00000000466 (fasta)

Gene Model

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

AlphaFold

P43883

Predicted Effect

probably damaging
Transcript: ENSMUST00000000466
AA Change: A341D

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000000466
Gene: ENSMUSG00000028494
AA Change: A341D

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

0.6030

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

99% (74/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	C	7: 82,178,191 (GRCm39)		probably null	Het
Alms1	A	T	6: 85,605,717 (GRCm39)	K2456*	probably null	Het
Alppl2	A	T	1: 87,016,184 (GRCm39)	M225K	probably damaging	Het
AU041133	A	G	10: 81,986,992 (GRCm39)	E215G	probably damaging	Het
Carmil3	T	A	14: 55,737,889 (GRCm39)	L815Q	probably damaging	Het
Casr	A	G	16: 36,337,971 (GRCm39)	C60R	probably damaging	Het
Cdc7	A	G	5: 107,117,093 (GRCm39)	K84E	probably damaging	Het
Cdc73	G	A	1: 143,567,211 (GRCm39)	T104I	probably benign	Het
Clcc1	G	A	3: 108,580,624 (GRCm39)	V313I	possibly damaging	Het
Cntn3	A	G	6: 102,254,178 (GRCm39)		probably null	Het
Crocc2	A	G	1: 93,141,360 (GRCm39)	K1171R	possibly damaging	Het
Ctsa	T	C	2: 164,676,281 (GRCm39)	V86A	probably damaging	Het
Cyp2s1	ACAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAG	7: 25,515,867 (GRCm39)		probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah17	C	A	11: 118,017,148 (GRCm39)	W197C	probably damaging	Het
Dnah17	A	T	11: 118,017,150 (GRCm39)	W197R	probably damaging	Het
Dnah17	C	T	11: 118,017,149 (GRCm39)	W197*	probably null	Het
Egflam	T	A	15: 7,263,773 (GRCm39)	T726S	probably damaging	Het
Eml2	T	G	7: 18,913,289 (GRCm39)		probably null	Het
Ercc6	T	A	14: 32,279,813 (GRCm39)	D609E	probably benign	Het
Erg	C	A	16: 95,181,100 (GRCm39)	R147L	probably damaging	Het
Faiml	T	C	9: 99,114,513 (GRCm39)	I125M	possibly damaging	Het
Fbxo41	A	T	6: 85,455,537 (GRCm39)	L549H	probably damaging	Het
Fbxw2	A	T	2: 34,702,825 (GRCm39)		probably null	Het
Fgd6	T	A	10: 93,880,161 (GRCm39)	N338K	probably benign	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gm32742	T	A	9: 51,068,862 (GRCm39)	I200F	probably damaging	Het
Gm4924	T	G	10: 82,213,307 (GRCm39)		probably benign	Het
Gm8369	G	A	19: 11,488,973 (GRCm39)	A87T	possibly damaging	Het
H2-M10.1	T	A	17: 36,634,994 (GRCm39)	I304F	unknown	Het
Ighv5-8	A	G	12: 113,618,611 (GRCm39)	T9A	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Jakmip1	G	T	5: 37,299,104 (GRCm39)	E775*	probably null	Het
Klhl40	T	C	9: 121,607,026 (GRCm39)	F62S	probably damaging	Het
Krtcap3	A	T	5: 31,409,572 (GRCm39)	R84W	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lins1	T	C	7: 66,360,496 (GRCm39)		probably null	Het
Magi3	A	G	3: 103,996,912 (GRCm39)	L211P	probably damaging	Het
Map2k5	T	A	9: 63,124,647 (GRCm39)	I359F	probably benign	Het
Map4k5	C	A	12: 69,878,336 (GRCm39)	R355L	probably benign	Het
Mef2c	T	A	13: 83,801,057 (GRCm39)	D252E	probably damaging	Het
Methig1	T	C	15: 100,251,422 (GRCm39)	V111A	possibly damaging	Het
Mical3	A	T	6: 120,985,991 (GRCm39)	L150Q	probably damaging	Het
Nf1	A	T	11: 79,456,581 (GRCm39)		probably null	Het
Nisch	T	A	14: 30,899,085 (GRCm39)		probably benign	Het
Or4f15	C	T	2: 111,814,396 (GRCm39)	V8I	probably benign	Het
Or5p61	T	C	7: 107,758,181 (GRCm39)	N300D	probably damaging	Het
Pcdhb12	T	C	18: 37,569,892 (GRCm39)	V346A	probably benign	Het
Pde7b	T	C	10: 20,316,546 (GRCm39)	D168G	possibly damaging	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Pla2g4a	A	G	1: 149,733,238 (GRCm39)	S504P	probably benign	Het
Psma8	A	G	18: 14,854,324 (GRCm39)	D68G	probably damaging	Het
Rcor3	G	A	1: 191,808,559 (GRCm39)	H207Y	probably benign	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Ryr3	A	G	2: 112,490,449 (GRCm39)	F3795S	probably damaging	Het
Samm50	C	G	15: 84,084,512 (GRCm39)	P150A	probably damaging	Het
Samm50	C	A	15: 84,084,513 (GRCm39)	P150H	probably damaging	Het
Slc28a2b	A	T	2: 122,353,963 (GRCm39)	I530F	probably damaging	Het
Slc6a18	A	T	13: 73,818,164 (GRCm39)	C284*	probably null	Het
Smc3	T	A	19: 53,616,162 (GRCm39)		probably null	Het
Snrnp200	G	A	2: 127,060,343 (GRCm39)	G529D	possibly damaging	Het
Sord	T	A	2: 122,089,613 (GRCm39)		probably null	Het
Spdl1	T	A	11: 34,710,713 (GRCm39)	N345I	probably damaging	Het
Sucnr1	T	C	3: 59,993,778 (GRCm39)	L102P	probably damaging	Het
Tbc1d9	T	C	8: 83,937,145 (GRCm39)	W76R	probably damaging	Het
Tcerg1	T	A	18: 42,686,530 (GRCm39)	Y696N	probably damaging	Het
Thsd7b	A	G	1: 129,595,655 (GRCm39)	T492A	probably benign	Het
Trdmt1	T	A	2: 13,524,870 (GRCm39)	Q195L	probably benign	Het
Ubr3	A	G	2: 69,813,208 (GRCm39)		probably null	Het
Ung	A	T	5: 114,275,361 (GRCm39)	Y250F	probably benign	Het
Vezf1	A	G	11: 87,972,326 (GRCm39)	N229S	probably damaging	Het
Wdfy3	C	T	5: 102,020,831 (GRCm39)	R2491Q	possibly damaging	Het
Wdr97	C	A	15: 76,239,895 (GRCm39)	S277*	probably null	Het
Zfp1007	T	C	5: 109,824,433 (GRCm39)	H339R	probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zscan4-ps1	C	A	7: 10,799,829 (GRCm39)	E353D	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
R1484:Plin2	UTSW	4	86,575,481 (GRCm39)	missense	probably benign	0.00
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
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'- TTCAGGCTGGCCTTGTTCAC -3'
(R):5'- ACTGGGCTCAATCATACACAGC -3'

Sequencing Primer
(F):5'- GTTCACCTCGGTAGACTGAG -3'
(R):5'- TACACAGCGCCTTCGGATC -3'

Posted On

2018-03-15