Mutagenetix > Incidental Mutation

Incidental Mutation 'R3438:Plin4'

267298

Institutional Source

Beutler Lab

Gene Symbol

Plin4

Ensembl Gene

ENSMUSG00000002831

Gene Name

perilipin 4

Synonyms

S3-12

MMRRC Submission

040656-MU

Accession Numbers

Essential gene?

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

Stock #

R3438 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56407591-56416803 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56414193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 144 (V144A)

Ref Sequence

ENSEMBL: ENSMUSP00000139859 (fasta)

Gene Model

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

AlphaFold

O88492

Predicted Effect

probably benign
Transcript: ENSMUST00000002908
AA Change: V144A

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: V144A

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 benign
Transcript: ENSMUST00000190703
AA Change: V144A

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: V144A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (37/38)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017G19Rik	A	G	3: 40,575,673 (GRCm39)		noncoding transcript	Het
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Ampd3	T	C	7: 110,402,433 (GRCm39)	I479T	probably damaging	Het
Aoah	G	A	13: 21,101,242 (GRCm39)	R254K	probably benign	Het
Appbp2	T	C	11: 85,088,966 (GRCm39)	E358G	probably damaging	Het
Col6a5	A	G	9: 105,752,991 (GRCm39)	S2294P	possibly damaging	Het
Cux1	T	C	5: 136,340,414 (GRCm39)	E632G	probably damaging	Het
Cyp7a1	T	C	4: 6,272,769 (GRCm39)	N148S	probably damaging	Het
Dgkz	A	T	2: 91,764,395 (GRCm39)		probably benign	Het
Dlgap1	A	T	17: 70,823,356 (GRCm39)	S114C	probably damaging	Het
Dmtn	T	A	14: 70,850,156 (GRCm39)	I263F	probably damaging	Het
Gigyf2	C	A	1: 87,368,302 (GRCm39)	H1029N	probably damaging	Het
Gm10770	T	A	2: 150,021,469 (GRCm39)		probably null	Het
Gnb1l	A	G	16: 18,371,117 (GRCm39)	T203A	probably benign	Het
Kng2	T	C	16: 22,830,821 (GRCm39)	I163V	probably benign	Het
Lamc1	T	C	1: 153,102,161 (GRCm39)	D1479G	probably benign	Het
Larp7-ps	A	C	4: 92,079,919 (GRCm39)	V23G	possibly damaging	Het
Lhx4	T	A	1: 155,578,230 (GRCm39)	D304V	probably benign	Het
Mybl1	G	T	1: 9,757,870 (GRCm39)	T143K	probably damaging	Het
Notch3	C	T	17: 32,372,564 (GRCm39)	C630Y	probably damaging	Het
Oas1e	T	C	5: 120,933,475 (GRCm39)	E30G	probably damaging	Het
Or4c114	T	C	2: 88,904,707 (GRCm39)	I243V	probably benign	Het
Or8b55	T	G	9: 38,727,512 (GRCm39)	F238V	probably damaging	Het
Or9e1	G	T	11: 58,732,698 (GRCm39)	G253*	probably null	Het
Otoa	A	G	7: 120,759,566 (GRCm39)	E1056G	possibly damaging	Het
Sec16b	T	C	1: 157,384,328 (GRCm39)		probably benign	Het
Stk31	A	G	6: 49,414,455 (GRCm39)	S485G	probably benign	Het
Tanc2	C	T	11: 105,748,401 (GRCm39)	P511L	probably damaging	Het
Utrn	T	C	10: 12,357,062 (GRCm39)	D309G	probably damaging	Het
Vpreb3	C	T	10: 75,779,056 (GRCm39)		probably benign	Het
Vsx2	A	T	12: 84,616,985 (GRCm39)	Q90L	probably 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
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

Predicted Primers

PCR Primer
(F):5'- ACTGTGTCCTTAGTGCCCATG -3'
(R):5'- ACAGCATAGAGGGACTTTTGTGG -3'

Sequencing Primer
(F):5'- TTAGTGCCCATGACCACAGACTTG -3'
(R):5'- TTCCTCATTAGACAGCTGGAGAC -3'

Posted On

2015-02-18