Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01685:Plin4'

103921

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plin4

Ensembl Gene

ENSMUSG00000002831

Gene Name

perilipin 4

Synonyms

S3-12

Accession Numbers

Essential gene?

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

Stock #

IGL01685

Quality Score

Status

Chromosome

Chromosomal Location

56407591-56416803 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56414362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 88 (K88E)

Ref Sequence

ENSEMBL: ENSMUSP00000139859 (fasta)

Gene Model

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

AlphaFold

O88492

Predicted Effect

probably damaging
Transcript: ENSMUST00000002908
AA Change: K88E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: K88E

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

probably damaging
Transcript: ENSMUST00000190703
AA Change: K88E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: K88E

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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	G	T	15: 94,301,327 (GRCm39)	R66S	possibly damaging	Het
Adamtsl4	A	G	3: 95,591,905 (GRCm39)	V61A	possibly damaging	Het
Arnt	A	G	3: 95,381,992 (GRCm39)	Y195C	probably damaging	Het
Brd3	A	G	2: 27,349,500 (GRCm39)	I351T	probably damaging	Het
Cd28	T	A	1: 60,802,307 (GRCm39)	Y75*	probably null	Het
Cyfip2	A	G	11: 46,098,315 (GRCm39)		probably benign	Het
Dip2a	T	G	10: 76,163,583 (GRCm39)	E39A	probably damaging	Het
Dst	T	C	1: 34,209,533 (GRCm39)	V1200A	probably damaging	Het
Dync2h1	A	G	9: 7,142,297 (GRCm39)	L1216P	probably damaging	Het
Ecm2	A	T	13: 49,682,374 (GRCm39)	I468F	probably damaging	Het
Gucy1b1	C	A	3: 81,942,592 (GRCm39)	V517F	probably benign	Het
H2-T23	T	C	17: 36,343,536 (GRCm39)	Q9R	probably benign	Het
Huwe1	T	C	X: 150,681,666 (GRCm39)		probably benign	Het
Hydin	A	T	8: 111,081,665 (GRCm39)	K354*	probably null	Het
Ighv14-2	A	T	12: 113,958,121 (GRCm39)	S107T	probably damaging	Het
Klk1b8	A	C	7: 43,604,294 (GRCm39)	K254T	possibly damaging	Het
Lama3	T	A	18: 12,586,937 (GRCm39)		probably benign	Het
Macroh2a2	C	T	10: 61,593,550 (GRCm39)	S42N	probably damaging	Het
Mbd6	G	T	10: 127,120,601 (GRCm39)		probably benign	Het
Mob1a	A	T	6: 83,309,485 (GRCm39)	E32D	probably benign	Het
Mrps27	A	T	13: 99,551,428 (GRCm39)	Q397L	possibly damaging	Het
Or8b3	T	C	9: 38,314,317 (GRCm39)	I46T	possibly damaging	Het
Pcdhb18	A	C	18: 37,624,984 (GRCm39)	K771N	probably benign	Het
Pcdhgc5	T	G	18: 37,954,808 (GRCm39)	L694R	probably damaging	Het
Pi4ka	A	T	16: 17,143,066 (GRCm39)	D815E	probably benign	Het
Rint1	A	T	5: 23,992,832 (GRCm39)		probably benign	Het
Ssbp1	A	G	6: 40,453,699 (GRCm39)	T82A	probably damaging	Het
Trpm5	A	T	7: 142,636,091 (GRCm39)	S558T	probably benign	Het
Tti1	A	G	2: 157,842,705 (GRCm39)	S775P	probably benign	Het
Zic3	T	C	X: 57,077,088 (GRCm39)	V183A	probably benign	Het

Other mutations in Plin4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4718:Plin4	UTSW	17	56,413,981 (GRCm39)	missense	possibly damaging	0.46
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

Posted On

2014-01-21