Mutagenetix > Incidental Mutation

Incidental Mutation 'R8125:Plin1'

631701

Institutional Source

Beutler Lab

Gene Symbol

Plin1

Ensembl Gene

ENSMUSG00000030546

Gene Name

perilipin 1

Synonyms

perilipin B, Plin, Peri, perilipin A, 6030432J05Rik

MMRRC Submission

067554-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79370912-79382652 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79379599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 84 (F84L)

Ref Sequence

ENSEMBL: ENSMUSP00000146028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032762] [ENSMUST00000178257] [ENSMUST00000205413] [ENSMUST00000205747] [ENSMUST00000205915]

AlphaFold

Q8CGN5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032762
AA Change: F84L

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032762
Gene: ENSMUSG00000030546
AA Change: F84L

Domain	Start	End	E-Value	Type
Pfam:Perilipin	14	399	7.5e-117	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178257
AA Change: F84L

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136996
Gene: ENSMUSG00000030546
AA Change: F84L

Domain	Start	End	E-Value	Type
Pfam:Perilipin	7	400	1.2e-123	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205413
AA Change: C84R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205747
AA Change: F84L

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205915
AA Change: F84L

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 97.0%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygous inactivation of this gene leads to increased lean body mass and altered adipocyte lipolysis, leptin production and susceptibility to diet-induced obesity. Increased oxygen and food consumption, impaired cold adaptation, and altered glucose andblood homeostasis have also been observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	C	A	18: 24,608,709 (GRCm39)	T143K	probably benign	Het
4933434E20Rik	T	A	3: 89,972,818 (GRCm39)	V74D	possibly damaging	Het
Acot11	C	T	4: 106,617,277 (GRCm39)		probably null	Het
Adam20	A	T	8: 41,247,973 (GRCm39)	I28L	probably benign	Het
Adamtsl3	A	G	7: 82,099,541 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Ahnak	C	T	19: 8,989,240 (GRCm39)	A3508V	possibly damaging	Het
Arhgap20	T	C	9: 51,738,209 (GRCm39)	I235T	probably damaging	Het
B4galnt3	T	C	6: 120,201,554 (GRCm39)	T164A	probably damaging	Het
Brip1	A	G	11: 86,077,817 (GRCm39)	S204P	possibly damaging	Het
Ccdc185	C	A	1: 182,574,835 (GRCm39)	S618I	probably benign	Het
Ckap5	T	A	2: 91,406,614 (GRCm39)	I805K	probably damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Cmtm2a	A	T	8: 105,019,343 (GRCm39)	I82N	probably damaging	Het
Corin	T	A	5: 72,515,806 (GRCm39)	H416L	probably damaging	Het
Csnk2a2	G	A	8: 96,182,575 (GRCm39)	P296L		Het
Cygb	T	A	11: 116,540,116 (GRCm39)	T178S	probably benign	Het
Dchs1	T	C	7: 105,414,089 (GRCm39)	T909A	possibly damaging	Het
Ddx60	C	T	8: 62,436,945 (GRCm39)	A965V	probably benign	Het
Dmbt1	A	G	7: 130,700,953 (GRCm39)	T1218A	unknown	Het
Ebf1	T	C	11: 44,863,742 (GRCm39)	I364T	probably damaging	Het
Efcab10	C	A	12: 33,448,313 (GRCm39)	R49S	probably damaging	Het
Eif2b1	G	A	5: 124,717,162 (GRCm39)		probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Gm49358	T	A	10: 86,656,857 (GRCm39)	F273Y		Het
Gria2	T	A	3: 80,614,550 (GRCm39)	I497F	possibly damaging	Het
Ipo9	T	C	1: 135,331,078 (GRCm39)	T426A	probably benign	Het
Klhl11	T	C	11: 100,354,811 (GRCm39)	I337V	probably benign	Het
Krtap19-5	A	T	16: 88,693,236 (GRCm39)	Y25*	probably null	Het
Lamb2	T	G	9: 108,364,722 (GRCm39)	S1159A	probably benign	Het
Mpig6b	A	T	17: 35,284,328 (GRCm39)	L154Q	probably damaging	Het
Mrpl28	T	C	17: 26,343,594 (GRCm39)	I118T	probably damaging	Het
Msh3	A	T	13: 92,435,690 (GRCm39)	N536K	probably benign	Het
Mtcl3	T	C	10: 29,072,894 (GRCm39)	S729P	probably damaging	Het
Myh8	A	G	11: 67,190,598 (GRCm39)	K1308E	possibly damaging	Het
Nav3	C	A	10: 109,688,520 (GRCm39)	G586W	probably damaging	Het
Ncoa7	T	C	10: 30,570,087 (GRCm39)	K291E	possibly damaging	Het
Nr5a1	C	T	2: 38,591,993 (GRCm39)	V327I	probably damaging	Het
Nup85	TACAAGACAA	TACAA	11: 115,469,063 (GRCm39)		probably null	Het
Or1o4	A	T	17: 37,590,935 (GRCm39)	H125Q	probably benign	Het
Or4f4-ps1	A	T	2: 111,330,332 (GRCm39)	D245V	possibly damaging	Het
Or4g17	T	C	2: 111,210,086 (GRCm39)	V247A	probably damaging	Het
Pard3b	T	C	1: 61,807,143 (GRCm39)	Y53H	probably damaging	Het
Pcyox1l	G	A	18: 61,840,576 (GRCm39)	P26L	unknown	Het
Pdzrn4	A	G	15: 92,641,476 (GRCm39)	S391G	probably damaging	Het
Pfn4	T	A	12: 4,825,487 (GRCm39)	M108K	probably damaging	Het
Pibf1	C	T	14: 99,416,803 (GRCm39)	Q459*	probably null	Het
Pkd1l1	C	T	11: 8,897,241 (GRCm39)	C556Y	probably damaging	Het
Rasa3	A	G	8: 13,627,801 (GRCm39)		probably null	Het
Sdc1	G	A	12: 8,840,663 (GRCm39)	V143I	probably benign	Het
Skic3	T	C	13: 76,278,446 (GRCm39)		probably null	Het
Skor2	C	A	18: 76,947,373 (GRCm39)	A365E	unknown	Het
Slc16a7	A	G	10: 125,164,202 (GRCm39)		probably null	Het
Slc25a31	T	A	3: 40,663,573 (GRCm39)	V51E	probably damaging	Het
Slc6a6	C	A	6: 91,703,087 (GRCm39)	F153L	probably damaging	Het
Snx7	T	A	3: 117,630,894 (GRCm39)	K238M	probably damaging	Het
Spata3	C	T	1: 85,952,075 (GRCm39)	R110C	unknown	Het
Spata31f3	A	G	4: 42,873,051 (GRCm39)	L80P	probably damaging	Het
Sphkap	T	G	1: 83,241,303 (GRCm39)	Q1587P	probably damaging	Het
Tcte1	T	C	17: 45,850,618 (GRCm39)	I298T	possibly damaging	Het
Tmem247	A	G	17: 87,229,795 (GRCm39)	Y120C		Het
Togaram2	C	G	17: 72,023,489 (GRCm39)	L802V	probably benign	Het
Trim32	T	C	4: 65,532,199 (GRCm39)	V252A	probably benign	Het
Ube2q2l	T	G	6: 136,378,184 (GRCm39)	R215S	possibly damaging	Het
Vat1	T	C	11: 101,351,029 (GRCm39)	K404R	probably benign	Het
Xirp2	C	A	2: 67,342,379 (GRCm39)	T1540K	probably benign	Het
Zc2hc1c	C	T	12: 85,343,386 (GRCm39)	H508Y	probably damaging	Het
Zfp407	A	T	18: 84,579,310 (GRCm39)	M601K	probably damaging	Het
Zfp951	A	T	5: 104,963,169 (GRCm39)	Y132*	probably null	Het

Other mutations in Plin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Plin1	APN	7	79,376,408 (GRCm39)	splice site	probably benign
IGL03248:Plin1	APN	7	79,372,382 (GRCm39)	missense	probably damaging	1.00
R0408:Plin1	UTSW	7	79,372,394 (GRCm39)	missense	probably damaging	0.97
R1163:Plin1	UTSW	7	79,379,719 (GRCm39)	missense	probably damaging	1.00
R1524:Plin1	UTSW	7	79,376,338 (GRCm39)	missense	probably benign	0.07
R2004:Plin1	UTSW	7	79,375,378 (GRCm39)	critical splice donor site	probably benign
R2363:Plin1	UTSW	7	79,376,139 (GRCm39)	critical splice donor site	probably null
R5115:Plin1	UTSW	7	79,379,692 (GRCm39)	unclassified	probably benign
R5226:Plin1	UTSW	7	79,372,447 (GRCm39)	missense	probably damaging	0.99
R5354:Plin1	UTSW	7	79,375,469 (GRCm39)	missense	possibly damaging	0.89
R5492:Plin1	UTSW	7	79,375,460 (GRCm39)	nonsense	probably null
R5545:Plin1	UTSW	7	79,376,257 (GRCm39)	missense	probably benign	0.27
R5647:Plin1	UTSW	7	79,371,320 (GRCm39)	missense	probably benign	0.25
R6191:Plin1	UTSW	7	79,371,347 (GRCm39)	missense	probably benign	0.00
R6299:Plin1	UTSW	7	79,371,224 (GRCm39)	missense	probably benign	0.04
R7126:Plin1	UTSW	7	79,376,412 (GRCm39)	splice site	probably null
R7203:Plin1	UTSW	7	79,373,192 (GRCm39)	missense	probably damaging	0.98
R8190:Plin1	UTSW	7	79,373,028 (GRCm39)	missense	probably benign	0.00
R8407:Plin1	UTSW	7	79,373,051 (GRCm39)	missense	probably benign
R9374:Plin1	UTSW	7	79,372,544 (GRCm39)	missense	probably benign	0.17
R9499:Plin1	UTSW	7	79,372,544 (GRCm39)	missense	probably benign	0.17
Z1177:Plin1	UTSW	7	79,371,299 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TGTTAGCCTAAGATACCCCAGGC -3'
(R):5'- GAACGTGCTCCAGAGAGTTC -3'

Sequencing Primer
(F):5'- AGGCTGGGCAAGTGTAGATATATGTC -3'
(R):5'- AGAGAGTTCTGCAGCTGCCTG -3'

Posted On

2020-06-30