Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Plin4'

44793

Institutional Source

Beutler Lab

Gene Symbol

Plin4

Ensembl Gene

ENSMUSG00000002831

Gene Name

perilipin 4

Synonyms

S3-12

MMRRC Submission

038737-MU

Accession Numbers

Essential gene?

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

Stock #

R0545 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

56100591-56109803 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56106567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 353 (T353S)

Ref Sequence

ENSEMBL: ENSMUSP00000139859 (fasta)

Gene Model

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

AlphaFold

O88492

Predicted Effect

probably damaging
Transcript: ENSMUST00000002908
AA Change: T353S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: T353S

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 damaging
Transcript: ENSMUST00000190703
AA Change: T353S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: T353S

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

0.0932

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,542,376	R76H	probably damaging	Het
4932438A13Rik	G	A	3: 36,987,690		probably benign	Het
Adnp2	T	C	18: 80,129,401	I598V	probably benign	Het
Ago3	T	C	4: 126,417,232	N63D	probably damaging	Het
Alkbh7	C	T	17: 56,999,012	R138*	probably null	Het
Atp6ap1l	T	C	13: 90,883,663	H300R	probably benign	Het
BC051076	C	T	5: 87,963,490		noncoding transcript	Het
Bpifb9a	T	A	2: 154,261,950	C104*	probably null	Het
Cacna2d2	T	C	9: 107,525,223	L826P	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,947,188	D526G	probably damaging	Het
Cdh23	T	A	10: 60,331,291	T1861S	probably benign	Het
Ces2f	A	C	8: 104,950,036	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,941,097		probably benign	Het
Chpf2	T	C	5: 24,590,324	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,933,772	R332W	probably damaging	Het
Cma2	A	T	14: 55,973,113	M86L	probably benign	Het
Cog6	A	T	3: 52,996,075	M134K	probably damaging	Het
Col1a1	A	G	11: 94,951,594	D1446G	unknown	Het
Cpne8	T	A	15: 90,497,075	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,605,182	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,886,661	L16R	probably damaging	Het
Dysf	T	C	6: 84,099,461	S603P	probably damaging	Het
Epha5	A	G	5: 84,067,358		probably null	Het
Ercc3	T	C	18: 32,245,902	S270P	probably damaging	Het
F10	T	A	8: 13,048,249	C151S	probably damaging	Het
Gpr180	T	G	14: 118,160,046	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,041,633	E32G	possibly damaging	Het
Ikzf5	T	C	7: 131,392,500	T133A	possibly damaging	Het
Itch	G	T	2: 155,182,298	G274*	probably null	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Lama3	T	A	18: 12,561,701	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,812,705	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,350,758	D197G	probably benign	Het
Mfap2	A	G	4: 141,014,185		probably benign	Het
Mfhas1	A	G	8: 35,589,048	K226E	probably damaging	Het
Morc1	A	G	16: 48,565,657	R548G	probably benign	Het
Mrgprb5	T	C	7: 48,168,885	N34S	probably benign	Het
Mroh4	T	C	15: 74,625,427	T182A	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,167,037	F743L	possibly damaging	Het
Notch4	A	C	17: 34,583,433	D1276A	probably damaging	Het
Olfr139	A	G	11: 74,045,047	C76R	possibly damaging	Het
Olfr215	T	A	6: 116,582,656	I97L	probably benign	Het
Olfr394	A	T	11: 73,888,017	Y118*	probably null	Het
Olfr799	T	A	10: 129,647,349	C74S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357	T827A	probably benign	Het
Prlr	C	T	15: 10,317,566	T40I	probably damaging	Het
Psme3	T	C	11: 101,319,904		probably benign	Het
Pygb	A	T	2: 150,815,706	D363V	probably benign	Het
Rsph6a	C	T	7: 19,054,946	Q68*	probably null	Het
Serpini2	A	G	3: 75,258,138	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,851,888		probably benign	Het
Skint7	A	C	4: 111,980,198	M58L	probably benign	Het
Slco3a1	G	T	7: 74,320,553	Y435*	probably null	Het
Stk17b	T	C	1: 53,762,583		probably benign	Het
Tinag	T	A	9: 77,031,710	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,958,799	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,759,097	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,053,613	V41F	probably benign	Het
Washc5	C	T	15: 59,342,093	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,806,813	T352A	probably damaging	Het
Zan	A	C	5: 137,396,177	C4467G	unknown	Het
Zc3h7a	T	C	16: 11,152,333		probably benign	Het
Zfp729a	C	A	13: 67,620,226	C628F	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
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
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'- CACTGTGTCCTTTGTACCCATGAGC -3'
(R):5'- ACGTGGCTAAAGGTGTTGTCCAGG -3'

Sequencing Primer
(F):5'- TTGTACCCATGAGCACAGACTTG -3'
(R):5'- TGGCCTGGACACTACCAAG -3'

Posted On

2013-06-11