Mutagenetix > Incidental Mutations

Incidental Mutation 'R2860:Plin4'

476867

Institutional Source

Beutler Lab

Gene Symbol

Plin4

Ensembl Gene

ENSMUSG00000002831

Gene Name

perilipin 4

Synonyms

S3-12

MMRRC Submission

040450-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R2860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56100591-56109803 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56106668 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 319 (D319G)

Ref Sequence

ENSEMBL: ENSMUSP00000139859 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000002908
AA Change: D319G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: D319G

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: D319G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: D319G

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

0.2412

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (44/44)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 36,965,849	S2079N	probably damaging	Het
Abca13	A	G	11: 9,309,057	S2928G	probably damaging	Het
Abcc9	C	T	6: 142,626,010	V1131M	probably benign	Het
Abcd1	T	A	X: 73,737,458	L713H	probably damaging	Het
Actg1	T	C	11: 120,346,801	I52V	probably benign	Het
Ang	G	T	14: 51,101,818	D139Y	probably damaging	Het
Ano1	C	T	7: 144,590,012	G1011E	probably damaging	Het
Apoe	T	C	7: 19,697,554	Y46C	probably damaging	Het
Ash1l	T	C	3: 89,054,478	W2386R	probably damaging	Het
Asph	T	C	4: 9,598,277	D250G	probably damaging	Het
Atr	A	G	9: 95,874,243	N836S	probably benign	Het
Btg3	A	G	16: 78,364,980	V114A	probably damaging	Het
C2	T	C	17: 34,863,878	T471A	possibly damaging	Het
C4b	T	A	17: 34,734,758	S959C	probably damaging	Het
Cap1	A	T	4: 122,864,725	S221T	probably benign	Het
Capn2	A	T	1: 182,472,920		probably benign	Het
Cd38	A	G	5: 43,901,433	S130G	probably damaging	Het
Cd8b1	A	G	6: 71,334,101	R202G	probably damaging	Het
Col22a1	A	G	15: 71,815,943		probably null	Het
Cps1	A	T	1: 67,166,375	E519V	probably benign	Het
Cyp2c38	G	A	19: 39,460,694	R72W	probably benign	Het
Cyp3a16	A	T	5: 145,455,499	Y215*	probably null	Het
F5	A	T	1: 164,184,964	K482N	probably damaging	Het
Fam212a	T	C	9: 107,984,404	T238A	probably benign	Het
Fam45a	T	C	19: 60,814,794	S80P	probably benign	Het
Gab1	T	C	8: 80,784,753	M488V	probably benign	Het
Gabpb1	A	G	2: 126,653,574	I86T	probably damaging	Het
Gbx2	C	T	1: 89,929,131	R179Q	probably damaging	Het
Gm11938	C	A	11: 99,603,146	R41L	probably damaging	Het
Gpn1	A	G	5: 31,497,320	D72G	probably damaging	Het
Greb1	A	G	12: 16,711,745	S545P	probably benign	Het
Hsd3b7	T	G	7: 127,802,270	L189R	probably damaging	Het
Iglc1	T	C	16: 19,061,910		probably benign	Het
Il18r1	T	C	1: 40,498,557	V494A	possibly damaging	Het
Itsn2	C	A	12: 4,700,315		probably benign	Het
Kcnn1	T	C	8: 70,846,535	K487R	probably benign	Het
Kdf1	G	A	4: 133,528,541	E190K	probably damaging	Het
Lama3	G	T	18: 12,453,750	L723F	probably damaging	Het
Lama5	T	C	2: 180,187,247	T2034A	probably benign	Het
Maged1	G	A	X: 94,538,924	P366S	probably damaging	Het
Med14	A	G	X: 12,719,697	I521T	probably benign	Het
Mia2	A	G	12: 59,154,410	K841E	probably damaging	Het
Mrgbp	G	A	2: 180,583,410	R53Q	possibly damaging	Het
Mum1l1	G	A	X: 139,236,680	G656S	possibly damaging	Het
Nmnat2	G	A	1: 153,112,425	V267I	probably benign	Het
Olfr1305	G	T	2: 111,873,473	C127*	probably null	Het
Olfr231	A	G	1: 174,117,732	Y95H	probably damaging	Het
Olfr490	A	G	7: 108,286,962	S55P	probably damaging	Het
Olfr715b	T	A	7: 107,106,468	H131L	probably benign	Het
Opn4	A	G	14: 34,593,828		probably null	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Parp16	G	T	9: 65,233,804	D219Y	probably damaging	Het
Pitpnm2	G	C	5: 124,121,437	H1224Q	probably damaging	Het
Pkd1	C	T	17: 24,565,446	T322I	probably benign	Het
Pkhd1l1	A	C	15: 44,540,871	T2299P	probably damaging	Het
Ppp6r3	A	C	19: 3,521,782	S122R	possibly damaging	Het
Pum3	A	T	19: 27,420,125		probably benign	Het
Rims1	A	T	1: 22,432,976	F653I	probably benign	Het
Rnf113a1	A	G	X: 37,192,083	E231G	probably damaging	Het
Rnf41	T	C	10: 128,438,154	L225P	possibly damaging	Het
Ryr2	T	C	13: 11,593,093	E876G	probably damaging	Het
Slc25a10	G	A	11: 120,495,177	V115M	probably damaging	Het
Snx13	T	A	12: 35,138,117	I798N	probably benign	Het
Sri	A	T	5: 8,067,540	Q178L	probably benign	Het
Tex14	T	G	11: 87,474,417	D62E	probably damaging	Het
Tshz1	G	T	18: 84,014,980	H434Q	probably damaging	Het
Vegfd	A	G	X: 164,385,883	E57G	probably damaging	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Vmn2r59	A	G	7: 42,047,003	I105T	possibly damaging	Het
Vmn2r6	G	T	3: 64,547,339	T513N	probably benign	Het
Vmn2r72	A	T	7: 85,750,836	I335N	probably damaging	Het
Wiz	G	T	17: 32,361,706	T257K	probably damaging	Het
Xirp1	T	C	9: 120,019,815	M1V	probably null	Het
Xirp1	A	G	9: 120,018,378	S41P	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
R0551:Plin4	UTSW	17	56106756	missense	probably benign	0.03
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
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

Predicted Primers

Posted On

2017-05-15