Mutagenetix > Incidental Mutation

Incidental Mutation 'R4610:Plin4'

344665

Institutional Source

Beutler Lab

Gene Symbol

Plin4

Ensembl Gene

ENSMUSG00000002831

Gene Name

perilipin 4

Synonyms

S3-12

MMRRC Submission

041821-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R4610 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56100591-56109803 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56105418 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 538 (M538L)

Ref Sequence

ENSEMBL: ENSMUSP00000139859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002908] [ENSMUST00000002911] [ENSMUST00000190703] [ENSMUST00000225843] [ENSMUST00000226053]

AlphaFold

O88492

Predicted Effect

probably benign
Transcript: ENSMUST00000002908
AA Change: M538L

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: M538L

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: ENSMUST00000002911

SMART Domains

Protein: ENSMUSP00000002911
Gene: ENSMUSG00000002833

Domain	Start	End	E-Value	Type
PWWP	5	62	1.78e-19	SMART
low complexity region	90	109	N/A	INTRINSIC
low complexity region	127	136	N/A	INTRINSIC
low complexity region	137	153	N/A	INTRINSIC
low complexity region	163	175	N/A	INTRINSIC
low complexity region	181	196	N/A	INTRINSIC
low complexity region	212	243	N/A	INTRINSIC
low complexity region	252	272	N/A	INTRINSIC
low complexity region	273	300	N/A	INTRINSIC
low complexity region	301	311	N/A	INTRINSIC
coiled coil region	321	364	N/A	INTRINSIC
low complexity region	398	411	N/A	INTRINSIC
Pfam:LEDGF	468	569	2.8e-31	PFAM
internal_repeat_1	575	644	2.5e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000190703
AA Change: M538L

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: M538L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225731

Predicted Effect

probably benign
Transcript: ENSMUST00000225843

Predicted Effect

probably benign
Transcript: ENSMUST00000226053

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (121/124)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	T	8: 45,970,468 (GRCm38)	I69N	probably damaging	Het
Aars2	T	A	17: 45,516,921 (GRCm38)	D555E	probably damaging	Het
Adgre1	C	A	17: 57,450,073 (GRCm38)	Q777K	possibly damaging	Het
Agpat4	G	A	17: 12,210,377 (GRCm38)		probably null	Het
Ak7	G	A	12: 105,713,575 (GRCm38)	V123M	probably benign	Het
Ankle1	AT	A	8: 71,407,207 (GRCm38)		probably benign	Het
Ankrd44	T	G	1: 54,766,748 (GRCm38)		probably benign	Het
Aprt	A	T	8: 122,575,415 (GRCm38)		probably null	Het
Aptx	T	C	4: 40,702,766 (GRCm38)		probably null	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
AY358078	T	A	14: 51,826,075 (GRCm38)	C393S	possibly damaging	Het
Bbip1	T	C	19: 53,932,175 (GRCm38)	M1V	probably null	Het
Cacng7	T	A	7: 3,336,691 (GRCm38)	M36K	probably benign	Het
Camta1	A	G	4: 151,084,827 (GRCm38)	W156R	probably damaging	Het
Casd1	G	A	6: 4,631,165 (GRCm38)		probably null	Het
Casz1	T	A	4: 148,933,267 (GRCm38)	Y338N	probably damaging	Het
Ccdc66	T	C	14: 27,500,420 (GRCm38)	N122S	probably damaging	Het
Celf2	G	T	2: 6,586,020 (GRCm38)	N279K	possibly damaging	Het
Cit	A	G	5: 115,994,087 (GRCm38)	T1801A	probably benign	Het
Cnot2	A	G	10: 116,499,418 (GRCm38)	I275T	probably damaging	Het
Ddx4	T	C	13: 112,612,060 (GRCm38)	K435E	probably damaging	Het
Dnajc6	T	C	4: 101,611,264 (GRCm38)	F166L	probably damaging	Het
Dst	T	C	1: 34,169,856 (GRCm38)	L820P	probably damaging	Het
Dusp11	T	A	6: 85,950,055 (GRCm38)	N193Y	probably damaging	Het
Eif3m	A	T	2: 105,013,288 (GRCm38)	N116K	probably benign	Het
Epb41l1	A	T	2: 156,509,261 (GRCm38)	E418D	possibly damaging	Het
Esyt2	T	G	12: 116,318,890 (GRCm38)	N153K	probably damaging	Het
Exoc6b	T	G	6: 85,003,159 (GRCm38)		probably benign	Het
Ezr	C	T	17: 6,739,722 (GRCm38)	E502K	possibly damaging	Het
Fbxw11	T	A	11: 32,711,859 (GRCm38)	Y66N	possibly damaging	Het
Frem2	A	G	3: 53,547,807 (GRCm38)	L2116S	possibly damaging	Het
Fry	T	C	5: 150,386,104 (GRCm38)	L671P	probably damaging	Het
Galnt7	A	G	8: 57,545,769 (GRCm38)	I262T	probably damaging	Het
Glp1r	T	C	17: 30,931,247 (GRCm38)	F381S	probably benign	Het
Gm3867	T	C	9: 36,257,271 (GRCm38)		noncoding transcript	Het
Gm5662	T	C	12: 88,271,774 (GRCm38)	N72S	probably benign	Het
Gm8741	G	T	17: 35,336,086 (GRCm38)		noncoding transcript	Het
Golgb1	A	G	16: 36,918,625 (GRCm38)	D2442G	probably damaging	Het
Gp1bb	A	T	16: 18,621,143 (GRCm38)	L67Q	probably damaging	Het
Gstm7	G	A	3: 107,926,919 (GRCm38)	T206I	possibly damaging	Het
Hist1h2bf	A	T	13: 23,574,057 (GRCm38)	V45E	possibly damaging	Het
Hs3st5	A	T	10: 36,828,806 (GRCm38)	D35V	probably benign	Het
Hspa13	T	C	16: 75,761,302 (GRCm38)	H125R	probably benign	Het
Hspa1a	T	G	17: 34,971,180 (GRCm38)	H249P	probably damaging	Het
Igkv10-95	A	T	6: 68,680,578 (GRCm38)	Q6L	probably damaging	Het
Il1rap	T	A	16: 26,714,776 (GRCm38)	L474H	probably benign	Het
Ipo11	T	A	13: 106,879,737 (GRCm38)	Y489F	probably benign	Het
Itga5	A	G	15: 103,350,832 (GRCm38)	Y723H	probably damaging	Het
Itih2	T	C	2: 10,105,160 (GRCm38)	N594S	probably damaging	Het
Itk	T	A	11: 46,336,515 (GRCm38)	Q427L	probably benign	Het
Kif26b	A	G	1: 178,679,355 (GRCm38)	Y332C	probably damaging	Het
Kmt2c	G	A	5: 25,354,384 (GRCm38)	R1086W	probably damaging	Het
Ktn1	T	A	14: 47,726,179 (GRCm38)		probably benign	Het
Lars2	T	A	9: 123,418,693 (GRCm38)	I305N	probably damaging	Het
Lgmn	G	T	12: 102,400,124 (GRCm38)		probably benign	Het
Ltbp4	C	T	7: 27,306,700 (GRCm38)	E1453K	probably damaging	Het
Lypd8	G	A	11: 58,386,849 (GRCm38)	M152I	probably benign	Het
Man2a1	T	A	17: 64,712,459 (GRCm38)	S773T	probably benign	Het
Map2k6	T	G	11: 110,499,474 (GRCm38)	L278R	probably damaging	Het
Mbtps1	A	T	8: 119,535,347 (GRCm38)	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,028,592 (GRCm38)	V60M	probably damaging	Het
Mical3	C	A	6: 120,934,838 (GRCm38)	E1083*	probably null	Het
Mms19	A	G	19: 41,945,496 (GRCm38)	V811A	possibly damaging	Het
Mrc2	G	A	11: 105,348,431 (GRCm38)		probably null	Het
Mslnl	G	A	17: 25,742,934 (GRCm38)	V128M	probably damaging	Het
Mtcl1	T	A	17: 66,377,887 (GRCm38)	H520L	probably benign	Het
Mymk	A	T	2: 27,062,707 (GRCm38)	F130I	probably damaging	Het
Myo1f	C	T	17: 33,582,332 (GRCm38)	R333C	probably damaging	Het
Myo9a	T	A	9: 59,871,882 (GRCm38)	H1640Q	probably benign	Het
Nav1	A	G	1: 135,592,448 (GRCm38)		probably benign	Het
Ncbp3	G	T	11: 73,079,018 (GRCm38)	G564C	probably damaging	Het
Ncoa4	A	T	14: 32,176,725 (GRCm38)	I501L	probably benign	Het
Ngp	T	A	9: 110,420,815 (GRCm38)	N60K	possibly damaging	Het
Npc1l1	G	T	11: 6,228,215 (GRCm38)	D398E	probably damaging	Het
Nphs2	T	A	1: 156,326,131 (GRCm38)	M264K	probably damaging	Het
Olfr1193	T	G	2: 88,678,179 (GRCm38)	V101G	probably benign	Het
Olfr1193	G	A	2: 88,677,896 (GRCm38)	V14I	probably benign	Het
Olfr145	T	A	9: 37,898,326 (GRCm38)	S307R	probably benign	Het
Olfr58	T	A	9: 19,783,146 (GRCm38)	Y4*	probably null	Het
Patz1	A	G	11: 3,306,241 (GRCm38)	Y509C	probably damaging	Het
Pax8	G	A	2: 24,421,583 (GRCm38)	P447S	probably damaging	Het
Pde11a	A	G	2: 76,158,333 (GRCm38)	V488A	probably benign	Het
Pex11g	C	T	8: 3,465,899 (GRCm38)	V45M	probably benign	Het
Pik3ip1	T	A	11: 3,333,327 (GRCm38)	S142R	probably damaging	Het
Pitpnm2	C	G	5: 124,125,371 (GRCm38)	A819P	probably damaging	Het
Pla2g4e	T	G	2: 120,186,382 (GRCm38)	H226P	possibly damaging	Het
Ppp3cb	T	C	14: 20,520,646 (GRCm38)	N339S	possibly damaging	Het
Rev1	T	C	1: 38,053,649 (GRCm38)	E1202G	probably damaging	Het
Rngtt	T	A	4: 33,339,133 (GRCm38)		probably benign	Het
Serpinb12	T	A	1: 106,949,153 (GRCm38)	D66E	probably benign	Het
Sgsm1	A	T	5: 113,255,307 (GRCm38)	F958Y	probably damaging	Het
Slc35e2	T	C	4: 155,617,649 (GRCm38)	F290S	probably benign	Het
Sorl1	C	T	9: 42,031,914 (GRCm38)	V889M	possibly damaging	Het
Sptlc3	G	A	2: 139,636,680 (GRCm38)	V520I	probably benign	Het
Stam	A	T	2: 14,115,858 (GRCm38)	H53L	probably damaging	Het
Stox2	A	G	8: 47,192,935 (GRCm38)	S497P	probably damaging	Het
Tarbp1	A	G	8: 126,474,330 (GRCm38)	Y246H	probably damaging	Het
Tbx15	A	G	3: 99,352,367 (GRCm38)	Y518C	probably damaging	Het
Tdrd5	T	A	1: 156,284,374 (GRCm38)	T479S	probably benign	Het
Tescl	T	C	7: 24,333,258 (GRCm38)	E214G	probably damaging	Het
Tex10	T	C	4: 48,452,946 (GRCm38)	D671G	probably benign	Het
Tmem132d	A	G	5: 127,984,296 (GRCm38)	V414A	probably benign	Het
Tmem41b	T	A	7: 109,974,734 (GRCm38)		probably benign	Het
Tnfrsf18	A	G	4: 156,021,880 (GRCm38)		probably benign	Het
Tulp4	T	A	17: 6,198,833 (GRCm38)	D42E	probably damaging	Het
Ubtd1	A	G	19: 42,033,664 (GRCm38)	N125S	probably damaging	Het
Ubxn4	T	A	1: 128,255,449 (GRCm38)	F68I	probably benign	Het
Urb1	A	G	16: 90,776,271 (GRCm38)	S958P	probably benign	Het
Vash2	T	C	1: 190,960,301 (GRCm38)	S226G	probably benign	Het
Vmn2r120	C	T	17: 57,509,120 (GRCm38)	G745E	probably damaging	Het
Vmn2r58	T	A	7: 41,837,693 (GRCm38)	I593F	probably benign	Het
Zfp398	T	C	6: 47,840,427 (GRCm38)	L67P	probably damaging	Het
Zfp607b	T	A	7: 27,703,695 (GRCm38)	H525Q	probably damaging	Het
Zfp629	T	C	7: 127,612,320 (GRCm38)	T106A	probably benign	Het
Zfp980	G	A	4: 145,702,083 (GRCm38)	G461S	probably benign	Het
Zic5	T	A	14: 122,464,800 (GRCm38)	D173V	probably damaging	Het
Zranb2	G	A	3: 157,541,884 (GRCm38)		probably benign	Het

Other mutations in Plin4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01685:Plin4	APN	17	56,107,362 (GRCm38)	missense	probably damaging	0.98
IGL02121:Plin4	APN	17	56,102,131 (GRCm38)	missense	probably damaging	0.98
IGL02254:Plin4	APN	17	56,104,733 (GRCm38)	missense	probably damaging	0.98
IGL02539:Plin4	APN	17	56,106,680 (GRCm38)	missense	probably damaging	1.00
IGL02892:Plin4	APN	17	56,105,108 (GRCm38)	missense	probably damaging	1.00
IGL03051:Plin4	APN	17	56,105,417 (GRCm38)	missense	possibly damaging	0.91
IGL03258:Plin4	APN	17	56,104,371 (GRCm38)	missense	probably benign	0.05
PIT4519001:Plin4	UTSW	17	56,103,828 (GRCm38)	missense	probably benign	0.23
R0211:Plin4	UTSW	17	56,102,242 (GRCm38)	missense	probably damaging	1.00
R0365:Plin4	UTSW	17	56,104,667 (GRCm38)	missense	possibly damaging	0.93
R0545:Plin4	UTSW	17	56,106,567 (GRCm38)	missense	probably damaging	1.00
R0551:Plin4	UTSW	17	56,106,756 (GRCm38)	missense	probably benign	0.03
R0862:Plin4	UTSW	17	56,103,966 (GRCm38)	missense	probably benign	0.00
R0864:Plin4	UTSW	17	56,103,966 (GRCm38)	missense	probably benign	0.00
R1260:Plin4	UTSW	17	56,104,348 (GRCm38)	nonsense	probably null
R1650:Plin4	UTSW	17	56,104,931 (GRCm38)	missense	probably damaging	0.99
R1688:Plin4	UTSW	17	56,109,363 (GRCm38)	missense	possibly damaging	0.61
R1725:Plin4	UTSW	17	56,106,473 (GRCm38)	missense	probably damaging	1.00
R1803:Plin4	UTSW	17	56,104,931 (GRCm38)	missense	probably damaging	0.99
R1834:Plin4	UTSW	17	56,103,522 (GRCm38)	missense	probably damaging	0.97
R1953:Plin4	UTSW	17	56,103,849 (GRCm38)	missense	possibly damaging	0.49
R2860:Plin4	UTSW	17	56,106,668 (GRCm38)	missense	probably damaging	0.98
R2861:Plin4	UTSW	17	56,106,668 (GRCm38)	missense	probably damaging	0.98
R2915:Plin4	UTSW	17	56,104,389 (GRCm38)	missense	probably damaging	0.98
R3438:Plin4	UTSW	17	56,107,193 (GRCm38)	missense	probably benign	0.26
R3622:Plin4	UTSW	17	56,104,112 (GRCm38)	missense	possibly damaging	0.92
R3932:Plin4	UTSW	17	56,106,704 (GRCm38)	missense	probably benign	0.01
R4116:Plin4	UTSW	17	56,102,113 (GRCm38)	missense	probably benign	0.30
R4201:Plin4	UTSW	17	56,104,338 (GRCm38)	missense	probably damaging	1.00
R4529:Plin4	UTSW	17	56,104,274 (GRCm38)	missense	probably damaging	1.00
R4692:Plin4	UTSW	17	56,103,762 (GRCm38)	missense	probably damaging	1.00
R4693:Plin4	UTSW	17	56,103,762 (GRCm38)	missense	probably damaging	1.00
R4718:Plin4	UTSW	17	56,106,981 (GRCm38)	missense	possibly damaging	0.46
R5283:Plin4	UTSW	17	56,106,777 (GRCm38)	missense	probably benign	0.00
R5304:Plin4	UTSW	17	56,106,132 (GRCm38)	missense	probably benign	0.00
R5333:Plin4	UTSW	17	56,104,970 (GRCm38)	missense	probably benign	0.31
R5484:Plin4	UTSW	17	56,104,932 (GRCm38)	missense	possibly damaging	0.90
R5569:Plin4	UTSW	17	56,102,147 (GRCm38)	missense	probably benign	0.02
R5765:Plin4	UTSW	17	56,102,470 (GRCm38)	missense	possibly damaging	0.68
R5776:Plin4	UTSW	17	56,104,983 (GRCm38)	missense	probably damaging	0.99
R5828:Plin4	UTSW	17	56,107,064 (GRCm38)	missense	probably damaging	0.99
R5932:Plin4	UTSW	17	56,106,356 (GRCm38)	missense	possibly damaging	0.92
R5988:Plin4	UTSW	17	56,109,567 (GRCm38)	missense	probably benign	0.03
R6053:Plin4	UTSW	17	56,108,618 (GRCm38)	missense	probably benign	0.01
R6264:Plin4	UTSW	17	56,104,787 (GRCm38)	missense	possibly damaging	0.90
R6334:Plin4	UTSW	17	56,103,261 (GRCm38)	missense	probably benign	0.22
R6415:Plin4	UTSW	17	56,103,264 (GRCm38)	missense	probably damaging	1.00
R7030:Plin4	UTSW	17	56,103,969 (GRCm38)	missense	probably damaging	1.00
R7302:Plin4	UTSW	17	56,102,330 (GRCm38)	missense	probably benign	0.00
R7342:Plin4	UTSW	17	56,104,608 (GRCm38)	missense	probably benign	0.01
R7352:Plin4	UTSW	17	56,104,427 (GRCm38)	missense	probably benign	0.16
R7354:Plin4	UTSW	17	56,104,427 (GRCm38)	missense	probably benign	0.16
R7505:Plin4	UTSW	17	56,109,357 (GRCm38)	missense	possibly damaging	0.56
R7540:Plin4	UTSW	17	56,104,883 (GRCm38)	missense	probably damaging	0.96
R7570:Plin4	UTSW	17	56,106,776 (GRCm38)	missense	probably benign	0.00
R7685:Plin4	UTSW	17	56,102,413 (GRCm38)	missense	probably benign	0.02
R7699:Plin4	UTSW	17	56,103,828 (GRCm38)	missense	probably benign	0.01
R8165:Plin4	UTSW	17	56,107,019 (GRCm38)	missense	possibly damaging	0.92
R8309:Plin4	UTSW	17	56,104,437 (GRCm38)	missense	probably damaging	0.98
R8351:Plin4	UTSW	17	56,106,861 (GRCm38)	missense	probably benign	0.00
R8875:Plin4	UTSW	17	56,104,010 (GRCm38)	missense	probably benign	0.00
R9083:Plin4	UTSW	17	56,109,345 (GRCm38)	missense	possibly damaging	0.88
R9410:Plin4	UTSW	17	56,106,995 (GRCm38)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- TCCTTTGTACCCATGAGCACAG -3'
(R):5'- AGGACAATGTATATGCTGGGGTC -3'

Sequencing Primer
(F):5'- TTGTACCCATGAGCACAGACTTGG -3'
(R):5'- TGTGGCCAAAGGTACCATC -3'

Posted On

2015-09-25