Mutagenetix > Incidental Mutation

Incidental Mutation 'R4718:Plin4'

354262

Institutional Source

Beutler Lab

Gene Symbol

Plin4

Ensembl Gene

ENSMUSG00000002831

Gene Name

perilipin 4

Synonyms

S3-12

MMRRC Submission

041985-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R4718 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56407591-56416803 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56413981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 215 (I215F)

Ref Sequence

ENSEMBL: ENSMUSP00000139859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002908] [ENSMUST00000019808] [ENSMUST00000113072] [ENSMUST00000190703]

AlphaFold

O88492

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002908
AA Change: I215F

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: I215F

Domain	Start	End	E-Value	Type
low complexity region	19	31	N/A	INTRINSIC
internal_repeat_2	74	335	9.44e-7	PROSPERO
internal_repeat_1	103	467	2.72e-12	PROSPERO
internal_repeat_2	343	701	9.44e-7	PROSPERO
internal_repeat_1	598	1090	2.72e-12	PROSPERO
low complexity region	1124	1136	N/A	INTRINSIC
Pfam:Perilipin	1144	1385	2.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000019808

SMART Domains

Protein: ENSMUSP00000019808
Gene: ENSMUSG00000011305

Domain	Start	End	E-Value	Type
Pfam:Perilipin	31	383	1.2e-119	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113072

SMART Domains

Protein: ENSMUSP00000108695
Gene: ENSMUSG00000011305

Domain	Start	End	E-Value	Type
Pfam:Perilipin	27	384	2.3e-128	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190703
AA Change: I215F

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: I215F

Domain	Start	End	E-Value	Type
low complexity region	19	31	N/A	INTRINSIC
internal_repeat_2	74	335	9.44e-7	PROSPERO
internal_repeat_1	103	467	2.72e-12	PROSPERO
internal_repeat_2	343	701	9.44e-7	PROSPERO
internal_repeat_1	598	1090	2.72e-12	PROSPERO
Pfam:Perilipin	1110	1385	1.4e-16	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the perilipin family, such as PLIN4, coat intracellular lipid storage droplets (Wolins et al., 2003 [PubMed 12840023]).[supplied by OMIM, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased triglyceride in the heart and protection from cardiac steatosis induced by prolonged fasting, feeding or genetic obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	G	A	5: 115,001,615 (GRCm39)		probably null	Het
Acsm2	A	T	7: 119,172,826 (GRCm39)	Y147F	probably damaging	Het
Alg12	A	T	15: 88,690,256 (GRCm39)	Y413N	probably damaging	Het
Arrdc3	A	T	13: 81,031,986 (GRCm39)	Q73L	possibly damaging	Het
Atp13a5	T	C	16: 29,066,922 (GRCm39)	K1017E	probably damaging	Het
Bmal1	A	T	7: 112,902,568 (GRCm39)	I399F	probably damaging	Het
Bms1	T	C	6: 118,380,196 (GRCm39)	N704D	possibly damaging	Het
Bsph1	T	A	7: 13,206,107 (GRCm39)	Y47*	probably null	Het
Crat	A	T	2: 30,298,176 (GRCm39)	Y174*	probably null	Het
Csmd3	G	T	15: 47,561,546 (GRCm39)	Y2254*	probably null	Het
Cyld	T	A	8: 89,468,933 (GRCm39)	I568N	probably damaging	Het
Dapl1	T	C	2: 59,315,072 (GRCm39)	V7A	probably benign	Het
Dhx29	G	A	13: 113,083,469 (GRCm39)	R508H	unknown	Het
Dnah9	A	G	11: 65,976,299 (GRCm39)	I1250T	probably benign	Het
Dnajb3	C	T	1: 88,133,061 (GRCm39)	D114N	probably benign	Het
Dsg1b	A	G	18: 20,530,986 (GRCm39)	N446D	probably damaging	Het
Dthd1	T	A	5: 62,976,136 (GRCm39)	V270E	probably damaging	Het
F2rl3	A	C	8: 73,489,536 (GRCm39)	R254S	possibly damaging	Het
Fgfr2	A	G	7: 129,863,518 (GRCm39)	S24P	probably damaging	Het
Fpr2	T	C	17: 18,113,598 (GRCm39)	V198A	probably benign	Het
Gbp2b	G	A	3: 142,304,756 (GRCm39)	G64D	probably damaging	Het
Gbp9	T	G	5: 105,231,624 (GRCm39)	N321H	probably damaging	Het
Gk2	T	A	5: 97,603,725 (GRCm39)	Y371F	probably benign	Het
Gm10382	T	C	5: 125,466,462 (GRCm39)		probably benign	Het
Gpatch3	A	G	4: 133,309,855 (GRCm39)	D396G	probably benign	Het
Heatr5a	A	C	12: 51,962,946 (GRCm39)	L985V	possibly damaging	Het
Homer1	T	A	13: 93,528,272 (GRCm39)	V269E	probably damaging	Het
Hspbap1	T	C	16: 35,607,692 (GRCm39)	V66A	probably benign	Het
Ighv7-2	A	C	12: 113,876,089 (GRCm39)	I5M	possibly damaging	Het
Ints7	T	A	1: 191,315,389 (GRCm39)	F108Y	possibly damaging	Het
Itga7	CT	CTGGGGATT	10: 128,776,603 (GRCm39)		probably null	Het
Junb	G	A	8: 85,705,061 (GRCm39)		probably benign	Het
Lcp2	A	G	11: 34,020,992 (GRCm39)	N116S	probably benign	Het
Lrguk	A	G	6: 34,006,431 (GRCm39)	T14A	probably benign	Het
Lrrcc1	T	A	3: 14,601,092 (GRCm39)	H41Q	probably damaging	Het
Ltb	C	A	17: 35,414,313 (GRCm39)		probably null	Het
Mapk7	A	G	11: 61,380,080 (GRCm39)	S693P	possibly damaging	Het
Mbd5	A	T	2: 49,146,414 (GRCm39)	H208L	possibly damaging	Het
Megf9	A	T	4: 70,367,015 (GRCm39)	S322R	possibly damaging	Het
Mgat4c	T	C	10: 102,224,467 (GRCm39)	V227A	probably damaging	Het
Mospd3	G	A	5: 137,597,915 (GRCm39)	T151M	probably benign	Het
Mpl	A	G	4: 118,313,921 (GRCm39)	S115P	probably benign	Het
Myo6	C	A	9: 80,153,799 (GRCm39)	D258E	probably benign	Het
N4bp2	G	A	5: 65,960,806 (GRCm39)	M492I	probably damaging	Het
Ndst3	G	A	3: 123,465,915 (GRCm39)	A19V	probably benign	Het
Nkx2-3	C	A	19: 43,601,082 (GRCm39)	T48K	probably benign	Het
Nlrp4f	T	C	13: 65,342,803 (GRCm39)	T281A	probably benign	Het
Nmur1	A	G	1: 86,315,463 (GRCm39)	V157A	probably damaging	Het
Obscn	A	T	11: 58,912,780 (GRCm39)	F6992L	probably damaging	Het
Ocm	G	T	5: 143,961,375 (GRCm39)	P22Q	possibly damaging	Het
Or5be3	T	C	2: 86,864,239 (GRCm39)	T109A	probably damaging	Het
Osbp2	C	A	11: 3,661,793 (GRCm39)	C753F	probably damaging	Het
Pabpc2	A	G	18: 39,907,556 (GRCm39)	T274A	probably benign	Het
Pamr1	T	A	2: 102,472,681 (GRCm39)	I660N	probably damaging	Het
Papola	C	T	12: 105,786,707 (GRCm39)	T466I	possibly damaging	Het
Pask	T	C	1: 93,249,918 (GRCm39)	E494G	possibly damaging	Het
Pck1	A	T	2: 172,997,014 (GRCm39)	I219F	probably damaging	Het
Pgm3	T	C	9: 86,452,448 (GRCm39)	E4G	probably benign	Het
Pgs1	A	G	11: 117,896,709 (GRCm39)	H462R	probably damaging	Het
Phlpp2	T	A	8: 110,667,452 (GRCm39)	M1327K	probably benign	Het
Pkhd1	C	A	1: 20,151,452 (GRCm39)	G3815W	probably damaging	Het
Plod1	T	G	4: 148,000,701 (GRCm39)		probably benign	Het
Ppfia2	T	C	10: 106,694,146 (GRCm39)	S707P	probably damaging	Het
Psmd12	A	G	11: 107,377,259 (GRCm39)	Q86R	probably benign	Het
Rasgrf2	C	A	13: 92,138,716 (GRCm39)		probably null	Het
Rictor	T	C	15: 6,812,641 (GRCm39)	S926P	possibly damaging	Het
Rras2	A	T	7: 113,649,584 (GRCm39)	I160N	probably benign	Het
Slc27a6	A	T	18: 58,738,138 (GRCm39)	Y398F	probably benign	Het
Speer4f1	A	G	5: 17,685,422 (GRCm39)	E239G	unknown	Het
Sppl2c	T	C	11: 104,079,141 (GRCm39)	I647T	probably benign	Het
Sptan1	A	G	2: 29,921,074 (GRCm39)	Y2467C	probably damaging	Het
Sptbn1	G	T	11: 30,104,297 (GRCm39)	H136N	probably damaging	Het
Stau2	T	C	1: 16,416,269 (GRCm39)		probably null	Het
Tasor2	A	T	13: 3,624,495 (GRCm39)	D1818E	probably benign	Het
Tet1	T	A	10: 62,649,591 (GRCm39)	I40F	probably damaging	Het
Tnfaip2	A	G	12: 111,412,463 (GRCm39)	E288G	possibly damaging	Het
Trav7-5	T	A	14: 53,768,610 (GRCm39)	H59Q	probably benign	Het
Usp53	T	C	3: 122,727,631 (GRCm39)	I984V	probably benign	Het
Wdfy4	A	G	14: 32,867,273 (GRCm39)	I403T	probably benign	Het
Yars2	T	A	16: 16,127,204 (GRCm39)	M423K	probably benign	Het
Zfp292	A	T	4: 34,819,521 (GRCm39)	V272D	possibly damaging	Het
Zmynd11	A	T	13: 9,739,603 (GRCm39)	V478D	possibly damaging	Het

Other mutations in Plin4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01685:Plin4	APN	17	56,414,362 (GRCm39)	missense	probably damaging	0.98
IGL02121:Plin4	APN	17	56,409,131 (GRCm39)	missense	probably damaging	0.98
IGL02254:Plin4	APN	17	56,411,733 (GRCm39)	missense	probably damaging	0.98
IGL02539:Plin4	APN	17	56,413,680 (GRCm39)	missense	probably damaging	1.00
IGL02892:Plin4	APN	17	56,412,108 (GRCm39)	missense	probably damaging	1.00
IGL03051:Plin4	APN	17	56,412,417 (GRCm39)	missense	possibly damaging	0.91
IGL03258:Plin4	APN	17	56,411,371 (GRCm39)	missense	probably benign	0.05
PIT4519001:Plin4	UTSW	17	56,410,828 (GRCm39)	missense	probably benign	0.23
R0211:Plin4	UTSW	17	56,409,242 (GRCm39)	missense	probably damaging	1.00
R0365:Plin4	UTSW	17	56,411,667 (GRCm39)	missense	possibly damaging	0.93
R0545:Plin4	UTSW	17	56,413,567 (GRCm39)	missense	probably damaging	1.00
R0551:Plin4	UTSW	17	56,413,756 (GRCm39)	missense	probably benign	0.03
R0862:Plin4	UTSW	17	56,410,966 (GRCm39)	missense	probably benign	0.00
R0864:Plin4	UTSW	17	56,410,966 (GRCm39)	missense	probably benign	0.00
R1260:Plin4	UTSW	17	56,411,348 (GRCm39)	nonsense	probably null
R1650:Plin4	UTSW	17	56,411,931 (GRCm39)	missense	probably damaging	0.99
R1688:Plin4	UTSW	17	56,416,363 (GRCm39)	missense	possibly damaging	0.61
R1725:Plin4	UTSW	17	56,413,473 (GRCm39)	missense	probably damaging	1.00
R1803:Plin4	UTSW	17	56,411,931 (GRCm39)	missense	probably damaging	0.99
R1834:Plin4	UTSW	17	56,410,522 (GRCm39)	missense	probably damaging	0.97
R1953:Plin4	UTSW	17	56,410,849 (GRCm39)	missense	possibly damaging	0.49
R2860:Plin4	UTSW	17	56,413,668 (GRCm39)	missense	probably damaging	0.98
R2861:Plin4	UTSW	17	56,413,668 (GRCm39)	missense	probably damaging	0.98
R2915:Plin4	UTSW	17	56,411,389 (GRCm39)	missense	probably damaging	0.98
R3438:Plin4	UTSW	17	56,414,193 (GRCm39)	missense	probably benign	0.26
R3622:Plin4	UTSW	17	56,411,112 (GRCm39)	missense	possibly damaging	0.92
R3932:Plin4	UTSW	17	56,413,704 (GRCm39)	missense	probably benign	0.01
R4116:Plin4	UTSW	17	56,409,113 (GRCm39)	missense	probably benign	0.30
R4201:Plin4	UTSW	17	56,411,338 (GRCm39)	missense	probably damaging	1.00
R4529:Plin4	UTSW	17	56,411,274 (GRCm39)	missense	probably damaging	1.00
R4610:Plin4	UTSW	17	56,412,418 (GRCm39)	missense	probably benign	0.08
R4692:Plin4	UTSW	17	56,410,762 (GRCm39)	missense	probably damaging	1.00
R4693:Plin4	UTSW	17	56,410,762 (GRCm39)	missense	probably damaging	1.00
R5283:Plin4	UTSW	17	56,413,777 (GRCm39)	missense	probably benign	0.00
R5304:Plin4	UTSW	17	56,413,132 (GRCm39)	missense	probably benign	0.00
R5333:Plin4	UTSW	17	56,411,970 (GRCm39)	missense	probably benign	0.31
R5484:Plin4	UTSW	17	56,411,932 (GRCm39)	missense	possibly damaging	0.90
R5569:Plin4	UTSW	17	56,409,147 (GRCm39)	missense	probably benign	0.02
R5765:Plin4	UTSW	17	56,409,470 (GRCm39)	missense	possibly damaging	0.68
R5776:Plin4	UTSW	17	56,411,983 (GRCm39)	missense	probably damaging	0.99
R5828:Plin4	UTSW	17	56,414,064 (GRCm39)	missense	probably damaging	0.99
R5932:Plin4	UTSW	17	56,413,356 (GRCm39)	missense	possibly damaging	0.92
R5988:Plin4	UTSW	17	56,416,567 (GRCm39)	missense	probably benign	0.03
R6053:Plin4	UTSW	17	56,415,618 (GRCm39)	missense	probably benign	0.01
R6264:Plin4	UTSW	17	56,411,787 (GRCm39)	missense	possibly damaging	0.90
R6334:Plin4	UTSW	17	56,410,261 (GRCm39)	missense	probably benign	0.22
R6415:Plin4	UTSW	17	56,410,264 (GRCm39)	missense	probably damaging	1.00
R7030:Plin4	UTSW	17	56,410,969 (GRCm39)	missense	probably damaging	1.00
R7302:Plin4	UTSW	17	56,409,330 (GRCm39)	missense	probably benign	0.00
R7342:Plin4	UTSW	17	56,411,608 (GRCm39)	missense	probably benign	0.01
R7352:Plin4	UTSW	17	56,411,427 (GRCm39)	missense	probably benign	0.16
R7354:Plin4	UTSW	17	56,411,427 (GRCm39)	missense	probably benign	0.16
R7505:Plin4	UTSW	17	56,416,357 (GRCm39)	missense	possibly damaging	0.56
R7540:Plin4	UTSW	17	56,411,883 (GRCm39)	missense	probably damaging	0.96
R7570:Plin4	UTSW	17	56,413,776 (GRCm39)	missense	probably benign	0.00
R7685:Plin4	UTSW	17	56,409,413 (GRCm39)	missense	probably benign	0.02
R7699:Plin4	UTSW	17	56,410,828 (GRCm39)	missense	probably benign	0.01
R8165:Plin4	UTSW	17	56,414,019 (GRCm39)	missense	possibly damaging	0.92
R8309:Plin4	UTSW	17	56,411,437 (GRCm39)	missense	probably damaging	0.98
R8351:Plin4	UTSW	17	56,413,861 (GRCm39)	missense	probably benign	0.00
R8875:Plin4	UTSW	17	56,411,010 (GRCm39)	missense	probably benign	0.00
R9083:Plin4	UTSW	17	56,416,345 (GRCm39)	missense	possibly damaging	0.88
R9410:Plin4	UTSW	17	56,413,995 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- GTGCCTTTAGCCACATTCATGG -3'
(R):5'- AAGGTCTTGTCAAGGGAGGTC -3'

Sequencing Primer
(F):5'- ACATTCATGGCCCCTGTGAG -3'
(R):5'- CAAGGGAGGTCTTGACACTTC -3'

Posted On

2015-10-21