Mutagenetix > Incidental Mutation

Incidental Mutation 'R0551:Plin4'

45205

Institutional Source

Beutler Lab

Gene Symbol

Plin4

Ensembl Gene

ENSMUSG00000002831

Gene Name

perilipin 4

Synonyms

S3-12

MMRRC Submission

038743-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R0551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56100591-56109803 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56106756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 290 (T290A)

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: T290A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: T290A

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: T290A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: T290A

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

0.1290

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (77/78)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,662,641	T456S	probably benign	Het
5830473C10Rik	C	T	5: 90,572,719	P250S	probably damaging	Het
Acmsd	A	T	1: 127,766,333	K333N	probably benign	Het
Adcy2	T	A	13: 68,796,539	K241N	probably damaging	Het
Aebp1	A	G	11: 5,867,955	I77V	probably benign	Het
Ankrd35	A	G	3: 96,683,960	T521A	probably benign	Het
Arap2	C	T	5: 62,641,323		probably null	Het
Arfgap3	A	T	15: 83,343,137	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,825,825		probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Auts2	T	C	5: 131,440,469	E446G	possibly damaging	Het
Brwd1	C	T	16: 96,035,974	R886H	probably damaging	Het
Carm1	G	A	9: 21,580,491		probably null	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cfap54	A	T	10: 93,025,122	M841K	probably benign	Het
Clca4b	T	A	3: 144,928,626	T69S	probably damaging	Het
Cpox	A	G	16: 58,675,390	I357V	probably benign	Het
Diaph3	C	A	14: 86,910,100	V711L	probably benign	Het
Fabp3-ps1	T	C	10: 86,732,040		probably benign	Het
Fam120b	A	T	17: 15,431,643		probably benign	Het
Fcho1	A	G	8: 71,712,174	S488P	probably benign	Het
Flcn	A	G	11: 59,795,748		probably null	Het
Flt3l	A	G	7: 45,132,266	W234R	probably damaging	Het
Fzd7	G	T	1: 59,483,284	V109L	probably damaging	Het
G3bp1	A	G	11: 55,489,143	N101S	probably benign	Het
Gadd45g	A	G	13: 51,847,927	E143G	probably damaging	Het
Ganab	T	G	19: 8,907,280	I149S	probably benign	Het
Garnl3	A	G	2: 33,016,738	S413P	probably damaging	Het
Glis1	C	T	4: 107,568,119		probably null	Het
Gm11563	A	G	11: 99,658,713	S72P	unknown	Het
Gpd1	T	G	15: 99,720,629	I188S	possibly damaging	Het
Gria2	A	G	3: 80,732,026		probably benign	Het
H2afy2	A	G	10: 61,741,166	S308P	probably damaging	Het
Hpcal4	G	T	4: 123,189,055	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,328,668	T1364I	probably benign	Het
Kdm4a	T	C	4: 118,138,231	*1065W	probably null	Het
Klkb1	A	G	8: 45,277,966		probably null	Het
Lipo3	T	C	19: 33,580,551	D147G	probably damaging	Het
Lrp1	A	G	10: 127,571,958	S1821P	probably benign	Het
Manba	T	C	3: 135,517,973	I207T	probably damaging	Het
Mark3	T	A	12: 111,633,634	S428T	probably benign	Het
Mfsd4a	G	A	1: 132,041,919	T348I	probably damaging	Het
Mfsd7a	A	G	5: 108,444,465		probably benign	Het
Mybbp1a	A	G	11: 72,448,376	M880V	probably benign	Het
N4bp2	T	A	5: 65,820,341		probably null	Het
Nrd1	T	G	4: 109,047,708	I712S	probably damaging	Het
Nup210	G	A	6: 91,021,484	R774C	possibly damaging	Het
Obscn	G	A	11: 59,107,862	R1395*	probably null	Het
Olfr1454	T	A	19: 13,064,294	D294E	probably benign	Het
Pcdh7	T	C	5: 57,721,994	Y964H	probably damaging	Het
Ppara	T	C	15: 85,787,105		probably benign	Het
Psg21	T	G	7: 18,652,640		probably null	Het
Ptar1	C	A	19: 23,720,340	N405K	probably benign	Het
Ralgps2	A	G	1: 156,832,663		probably null	Het
Rnf6	T	A	5: 146,211,395	N271I	possibly damaging	Het
Sis	T	C	3: 72,925,407	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,352,754		probably benign	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Sntg1	C	A	1: 8,554,736	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,311,816	E567D	probably damaging	Het
Sp110	C	A	1: 85,589,100		probably benign	Het
Ssu2	A	G	6: 112,380,554	V175A	possibly damaging	Het
Stk36	G	A	1: 74,616,621	E428K	probably benign	Het
Teddm1b	A	T	1: 153,875,344	I300F	possibly damaging	Het
Thy1	T	C	9: 44,047,348	V129A	probably damaging	Het
Tiam2	T	A	17: 3,428,954	M654K	probably damaging	Het
Tmem69	T	C	4: 116,553,273	S167G	probably benign	Het
Tmem8	C	A	17: 26,120,602	Q605K	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tspan10	A	G	11: 120,444,418	D118G	probably damaging	Het
Tspo2	A	G	17: 48,448,813		probably benign	Het
Ttn	G	A	2: 76,908,328	Q4002*	probably null	Het
Tyro3	G	A	2: 119,816,904	R834Q	probably damaging	Het
Ugt2b1	T	C	5: 86,926,084	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,071,539	I200F	probably benign	Het

Other mutations in Plin4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01685:Plin4	APN	17	56107362	missense	probably damaging	0.98
IGL02121:Plin4	APN	17	56102131	missense	probably damaging	0.98
IGL02254:Plin4	APN	17	56104733	missense	probably damaging	0.98
IGL02539:Plin4	APN	17	56106680	missense	probably damaging	1.00
IGL02892:Plin4	APN	17	56105108	missense	probably damaging	1.00
IGL03051:Plin4	APN	17	56105417	missense	possibly damaging	0.91
IGL03258:Plin4	APN	17	56104371	missense	probably benign	0.05
PIT4519001:Plin4	UTSW	17	56103828	missense	probably benign	0.23
R0211:Plin4	UTSW	17	56102242	missense	probably damaging	1.00
R0365:Plin4	UTSW	17	56104667	missense	possibly damaging	0.93
R0545:Plin4	UTSW	17	56106567	missense	probably damaging	1.00
R0862:Plin4	UTSW	17	56103966	missense	probably benign	0.00
R0864:Plin4	UTSW	17	56103966	missense	probably benign	0.00
R1260:Plin4	UTSW	17	56104348	nonsense	probably null
R1650:Plin4	UTSW	17	56104931	missense	probably damaging	0.99
R1688:Plin4	UTSW	17	56109363	missense	possibly damaging	0.61
R1725:Plin4	UTSW	17	56106473	missense	probably damaging	1.00
R1803:Plin4	UTSW	17	56104931	missense	probably damaging	0.99
R1834:Plin4	UTSW	17	56103522	missense	probably damaging	0.97
R1953:Plin4	UTSW	17	56103849	missense	possibly damaging	0.49
R2860:Plin4	UTSW	17	56106668	missense	probably damaging	0.98
R2861:Plin4	UTSW	17	56106668	missense	probably damaging	0.98
R2915:Plin4	UTSW	17	56104389	missense	probably damaging	0.98
R3438:Plin4	UTSW	17	56107193	missense	probably benign	0.26
R3622:Plin4	UTSW	17	56104112	missense	possibly damaging	0.92
R3932:Plin4	UTSW	17	56106704	missense	probably benign	0.01
R4116:Plin4	UTSW	17	56102113	missense	probably benign	0.30
R4201:Plin4	UTSW	17	56104338	missense	probably damaging	1.00
R4529:Plin4	UTSW	17	56104274	missense	probably damaging	1.00
R4610:Plin4	UTSW	17	56105418	missense	probably benign	0.08
R4692:Plin4	UTSW	17	56103762	missense	probably damaging	1.00
R4693:Plin4	UTSW	17	56103762	missense	probably damaging	1.00
R4718:Plin4	UTSW	17	56106981	missense	possibly damaging	0.46
R5283:Plin4	UTSW	17	56106777	missense	probably benign	0.00
R5304:Plin4	UTSW	17	56106132	missense	probably benign	0.00
R5333:Plin4	UTSW	17	56104970	missense	probably benign	0.31
R5484:Plin4	UTSW	17	56104932	missense	possibly damaging	0.90
R5569:Plin4	UTSW	17	56102147	missense	probably benign	0.02
R5765:Plin4	UTSW	17	56102470	missense	possibly damaging	0.68
R5776:Plin4	UTSW	17	56104983	missense	probably damaging	0.99
R5828:Plin4	UTSW	17	56107064	missense	probably damaging	0.99
R5932:Plin4	UTSW	17	56106356	missense	possibly damaging	0.92
R5988:Plin4	UTSW	17	56109567	missense	probably benign	0.03
R6053:Plin4	UTSW	17	56108618	missense	probably benign	0.01
R6264:Plin4	UTSW	17	56104787	missense	possibly damaging	0.90
R6334:Plin4	UTSW	17	56103261	missense	probably benign	0.22
R6415:Plin4	UTSW	17	56103264	missense	probably damaging	1.00
R7030:Plin4	UTSW	17	56103969	missense	probably damaging	1.00
R7302:Plin4	UTSW	17	56102330	missense	probably benign	0.00
R7342:Plin4	UTSW	17	56104608	missense	probably benign	0.01
R7352:Plin4	UTSW	17	56104427	missense	probably benign	0.16
R7354:Plin4	UTSW	17	56104427	missense	probably benign	0.16
R7505:Plin4	UTSW	17	56109357	missense	possibly damaging	0.56
R7540:Plin4	UTSW	17	56104883	missense	probably damaging	0.96
R7570:Plin4	UTSW	17	56106776	missense	probably benign	0.00
R7685:Plin4	UTSW	17	56102413	missense	probably benign	0.02
R7699:Plin4	UTSW	17	56103828	missense	probably benign	0.01
R8165:Plin4	UTSW	17	56107019	missense	possibly damaging	0.92
R8309:Plin4	UTSW	17	56104437	missense	probably damaging	0.98
R8351:Plin4	UTSW	17	56106861	missense	probably benign	0.00
R8875:Plin4	UTSW	17	56104010	missense	probably benign	0.00
R9083:Plin4	UTSW	17	56109345	missense	possibly damaging	0.88
R9410:Plin4	UTSW	17	56106995	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- GACCCATCTGTGCTGTGCCTTTAG -3'
(R):5'- ACAGTTACCACAGGAGTCATGGGAG -3'

Sequencing Primer
(F):5'- ATTCATGGCCCCAGTGAGTC -3'
(R):5'- TGTGGCTAAAGGCACCATC -3'

Posted On

2013-06-11