Mutagenetix > Incidental Mutation

Incidental Mutation 'R2872:Plin2'

266657

Institutional Source

Beutler Lab

Gene Symbol

Plin2

Ensembl Gene

ENSMUSG00000028494

Gene Name

perilipin 2

Synonyms

Adrp, ADPH, adipophilin, Adfp

MMRRC Submission

040460-MU

Accession Numbers

Essential gene?

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

Stock #

R2872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86566623-86588297 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 86586915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000123456 (fasta)

Gene Model

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

AlphaFold

P43883

Predicted Effect

probably null
Transcript: ENSMUST00000000466
AA Change: M1T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000000466
Gene: ENSMUSG00000028494
AA Change: M1T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134094

Predicted Effect

probably null
Transcript: ENSMUST00000140382
AA Change: M1T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123456
Gene: ENSMUSG00000028494
AA Change: M1T

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 null
Transcript: ENSMUST00000149700
AA Change: M1T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123333
Gene: ENSMUSG00000028494
AA Change: M1T

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

Meta Mutation Damage Score

0.9701

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (72/73)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,201,530 (GRCm39)		probably benign	Het
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Ak8	T	C	2: 28,632,732 (GRCm39)	I317T	possibly damaging	Het
Akr1e1	G	A	13: 4,652,683 (GRCm39)		silent	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Carmil1	G	A	13: 24,229,051 (GRCm39)		silent	Het
Cilk1	A	T	9: 78,047,382 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,606,831 (GRCm39)	F531I	probably damaging	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Ctnnd1	C	T	2: 84,451,232 (GRCm39)	V123I	possibly damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Homo
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm37340	G	A	2: 6,955,739 (GRCm39)		probably benign	Het
Gpr156	T	A	16: 37,812,585 (GRCm39)	V307D	probably damaging	Het
Gpr35	G	A	1: 92,910,848 (GRCm39)	V187I	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Hdac10	G	T	15: 89,010,059 (GRCm39)	Q300K	possibly damaging	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Igsf9b	A	G	9: 27,233,519 (GRCm39)	I340V	probably benign	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Homo
Knop1	T	C	7: 118,455,186 (GRCm39)		probably null	Het
Mapk7	C	A	11: 61,381,038 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	T	C	8: 71,743,610 (GRCm39)	Y224H	probably benign	Het
Nav1	A	G	1: 135,388,495 (GRCm39)		silent	Het
Ndufs1	A	G	1: 63,203,882 (GRCm39)		probably benign	Het
Nlrc3	T	C	16: 3,775,190 (GRCm39)	D774G	possibly damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nsun2	A	G	13: 69,777,801 (GRCm39)	T425A	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or1o4	A	G	17: 37,590,867 (GRCm39)	V148A	possibly damaging	Het
Or52u1	T	C	7: 104,237,700 (GRCm39)	S230P	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Paqr5	A	T	9: 61,876,061 (GRCm39)		probably null	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pkd1l2	C	T	8: 117,764,903 (GRCm39)	V1332I	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg1	T	G	10: 3,913,982 (GRCm39)	S1235A	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plxna3	T	A	X: 73,383,002 (GRCm39)		probably benign	Homo
Polg2	A	G	11: 106,666,251 (GRCm39)		probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Homo
Prps1	C	T	X: 139,372,743 (GRCm39)		probably benign	Homo
Rapgef6	T	A	11: 54,552,001 (GRCm39)	F956L	probably damaging	Het
Rasl12	A	G	9: 65,315,605 (GRCm39)	N83S	probably benign	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Sel1l3	C	T	5: 53,295,225 (GRCm39)	W792*	probably null	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc6a9	T	A	4: 117,706,578 (GRCm39)	M1K	probably null	Het
Smpdl3a	T	A	10: 57,678,626 (GRCm39)	F143Y	possibly damaging	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Spsb4	G	T	9: 96,878,071 (GRCm39)	T84K	probably damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tdpoz3	T	A	3: 93,733,735 (GRCm39)	F137I	probably benign	Het
Tgm7	G	A	2: 120,940,174 (GRCm39)		probably benign	Het
Tmem161a	C	T	8: 70,631,565 (GRCm39)		probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Ttn	A	G	2: 76,581,195 (GRCm39)	S23233P	probably damaging	Het
Uevld	T	C	7: 46,597,693 (GRCm39)	D154G	probably null	Het
Zfp292	G	A	4: 34,808,595 (GRCm39)	T1483M	probably damaging	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	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
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'- CCTTTGTACTGACATAAGCGGAGG -3'
(R):5'- GAAAGTGTGTAAACAGCCCTGG -3'

Sequencing Primer
(F):5'- GACACAAGGTCGTAGGTAGAGCTC -3'
(R):5'- TGTAAACAGCCCTGGAGCCTC -3'

Posted On

2015-02-18