Mutagenetix > Incidental Mutation

Incidental Mutation 'R2915:Plin4'

254867

Institutional Source

Beutler Lab

Gene Symbol

Plin4

Ensembl Gene

ENSMUSG00000002831

Gene Name

perilipin 4

Synonyms

S3-12

MMRRC Submission

040502-MU

Accession Numbers

Essential gene?

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

Stock #

R2915 (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 56104389 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 881 (T881S)

Ref Sequence

ENSEMBL: ENSMUSP00000139859 (fasta)

Gene Model

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

AlphaFold

O88492

Predicted Effect

probably damaging
Transcript: ENSMUST00000002908
AA Change: T881S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: T881S

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 damaging
Transcript: ENSMUST00000190703
AA Change: T881S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: T881S

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: ENSMUST00000224101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225208

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

0.1552

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Arhgap11a	A	G	2: 113,833,508	V810A	probably damaging	Het
B3gnt6	T	C	7: 98,193,593	N387D	probably benign	Het
Col5a2	C	G	1: 45,413,496	G358R	probably damaging	Het
Cracr2a	A	G	6: 127,611,505	K209R	probably damaging	Het
Dmkn	A	G	7: 30,765,316	N32S	unknown	Het
Dusp13	T	A	14: 21,740,137	N47I	probably damaging	Het
Elmo2	A	G	2: 165,297,653		probably benign	Het
Ephb6	T	C	6: 41,614,238	F110L	probably damaging	Het
Gabrb2	T	A	11: 42,591,907	N197K	probably benign	Het
Gdnf	T	A	15: 7,815,649	V41E	possibly damaging	Het
Gm21915	A	G	9: 40,670,787	I59V	possibly damaging	Het
Gprin2	C	T	14: 34,195,081	G244D	possibly damaging	Het
Grin2d	T	C	7: 45,833,357		probably benign	Het
Ice2	A	G	9: 69,410,840	D241G	probably benign	Het
Mios	C	T	6: 8,214,935	R44C	possibly damaging	Het
Nlrp5-ps	T	C	7: 14,586,711		noncoding transcript	Het
Nyap2	C	T	1: 81,087,471	R67*	probably null	Het
Olfr1031	T	A	2: 85,992,045	V76E	probably damaging	Het
Olfr1094	T	C	2: 86,829,226	I158T	probably benign	Het
Olfr1306	G	T	2: 111,912,719	D70E	probably damaging	Het
Olfr1428	G	A	19: 12,108,625	P81L	probably benign	Het
Olfr27	G	T	9: 39,144,466	R122L	possibly damaging	Het
Otop2	G	A	11: 115,329,146	A271T	probably benign	Het
Otulin	A	G	15: 27,619,630		probably benign	Het
Pax1	A	G	2: 147,368,428	Y361C	probably damaging	Het
Pcdhb12	A	T	18: 37,437,640	N613I	probably damaging	Het
Plekha5	A	G	6: 140,589,199	K173E	probably damaging	Het
Poli	A	G	18: 70,522,700		probably null	Het
Prex2	T	A	1: 11,169,853	F898I	probably damaging	Het
Prr14l	A	T	5: 32,829,768	H794Q	probably benign	Het
Prss1	A	T	6: 41,462,611	I93F	probably benign	Het
Ptpro	C	T	6: 137,414,241		probably benign	Het
Rad1	T	C	15: 10,486,642	C42R	probably damaging	Het
Rnf20	A	G	4: 49,638,769	E197G	probably benign	Het
Setx	A	G	2: 29,172,324	E2260G	probably damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Six2	A	G	17: 85,685,188	S296P	probably damaging	Het
Smg1	T	A	7: 118,210,879		probably benign	Het
Spred2	T	C	11: 19,998,215	V41A	probably damaging	Het
Ssu2	A	T	6: 112,377,605	C219*	probably null	Het
Tbc1d9b	T	A	11: 50,149,736	V360D	possibly damaging	Het
Tdrd9	G	A	12: 112,040,461	D920N	probably damaging	Het
Tyrp1	A	G	4: 80,837,455	T154A	possibly damaging	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Wac	A	C	18: 7,926,131	M596L	possibly damaging	Het
Zfhx2	G	T	14: 55,064,557	P1990Q	probably damaging	Het
Zfp853	T	C	5: 143,289,577	E96G	unknown	Het
Zzef1	G	A	11: 72,910,326		probably null	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
R2860:Plin4	UTSW	17	56106668	missense	probably damaging	0.98
R2861:Plin4	UTSW	17	56106668	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'- AGACTTGGTGGTATCCAGGC -3'
(R):5'- GTCTGTGGTCATGGGCACTAAG -3'

Sequencing Primer
(F):5'- GTGGTATCCAGGCCTCCTTG -3'
(R):5'- TGGTCATGGGCACTAAGGACAC -3'

Posted On

2014-12-29