Mutagenetix > Incidental Mutation

Incidental Mutation 'R2870:Plin2'

266493

Institutional Source

Beutler Lab

Gene Symbol

Plin2

Ensembl Gene

ENSMUSG00000028494

Gene Name

perilipin 2

Synonyms

Adrp, ADPH, adipophilin, Adfp

MMRRC Submission

040458-MU

Accession Numbers

Essential gene?

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

Stock #

R2870 (G1)

Quality Score

225

Status

Not 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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	A	G	3: 30,653,847 (GRCm39)	V51A	probably damaging	Het
Adgb	C	T	10: 10,307,025 (GRCm39)		probably null	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Ankrd10	C	T	8: 11,665,682 (GRCm39)	R306H	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
C030034I22Rik	T	A	17: 69,725,106 (GRCm39)		noncoding transcript	Het
Cacna2d1	G	A	5: 16,517,566 (GRCm39)	C404Y	probably damaging	Het
Ccdc163	T	C	4: 116,599,058 (GRCm39)		silent	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Cimap1d	G	A	10: 79,481,487 (GRCm39)	T14I	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Csmd3	C	T	15: 47,721,320 (GRCm39)	G1437D	probably 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
Dcp1b	C	T	6: 119,191,735 (GRCm39)	S217L	probably benign	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Dmp1	A	G	5: 104,359,974 (GRCm39)	S217G	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Eral1	A	G	11: 77,967,104 (GRCm39)	I164T	possibly damaging	Het
Esr1	G	A	10: 4,947,890 (GRCm39)	R481H	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm5454	C	A	13: 103,494,031 (GRCm39)		noncoding transcript	Het
Gm9874	A	T	17: 30,704,763 (GRCm39)		probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gria4	T	A	9: 4,503,614 (GRCm39)	N334I	probably damaging	Het
Grm5	T	C	7: 87,251,930 (GRCm39)	V60A	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Ino80d	C	T	1: 63,100,198 (GRCm39)		probably null	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Krt31	T	G	11: 99,938,699 (GRCm39)	N298T	possibly damaging	Het
Mapk7	C	A	11: 61,381,038 (GRCm39)		probably benign	Het
Marchf8	C	T	6: 116,378,106 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mdm1	A	G	10: 117,986,847 (GRCm39)	T267A	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mtm1	T	C	X: 70,339,968 (GRCm39)		probably benign	Homo
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Mylk2	A	G	2: 152,761,268 (GRCm39)	K457R	probably damaging	Het
Nell1	A	T	7: 49,899,405 (GRCm39)		probably benign	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Or8k33	T	C	2: 86,383,928 (GRCm39)	D180G	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
Otx1	A	G	11: 21,948,681 (GRCm39)		probably benign	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,833 (GRCm39)	Q453L	possibly damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Pold1	C	T	7: 44,192,771 (GRCm39)		silent	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	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
Retnla	A	G	16: 48,663,975 (GRCm39)	R90G	probably benign	Het
Semp2l2b	A	T	10: 21,943,278 (GRCm39)	I234N	probably benign	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,740,825 (GRCm39)	I247V	probably benign	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Spcs2	T	C	7: 99,488,968 (GRCm39)	D240G	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Taf6l	A	G	19: 8,755,992 (GRCm39)		probably benign	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Thbs1	C	G	2: 117,949,859 (GRCm39)	N611K	probably damaging	Het
Tipin	A	C	9: 64,211,609 (GRCm39)	S232R	probably benign	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Tmem161a	C	T	8: 70,631,565 (GRCm39)		probably benign	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	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
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'- TGATCCTTTGTACTGACATAAGCGG -3'
(R):5'- GTGTGTAAACAGCCCTGGAG -3'

Sequencing Primer
(F):5'- CTTTGTACTGACATAAGCGGAGGAC -3'
(R):5'- AGCCTCCAGTCAGGTTGTTG -3'

Posted On

2015-02-18