Mutagenetix > Incidental Mutation

Incidental Mutation 'R5173:Plin5'

398947

Institutional Source

Beutler Lab

Gene Symbol

Plin5

Ensembl Gene

ENSMUSG00000011305

Gene Name

perilipin 5

Synonyms

Lsdp5, MLDP, 2310076L09Rik

MMRRC Submission

042753-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R5173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56418601-56424596 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to G at 56422548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019808] [ENSMUST00000041357] [ENSMUST00000113072]

AlphaFold

Q8BVZ1

Predicted Effect

probably null
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: ENSMUST00000041357

SMART Domains

Protein: ENSMUSP00000038048
Gene: ENSMUSG00000037095

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
LRR	84	107	1.86e0	SMART
LRR_TYP	108	131	3.63e-3	SMART
LRR	133	155	5.89e1	SMART
LRR_TYP	156	179	1.45e-2	SMART
LRR_TYP	180	203	8.47e-4	SMART
LRR	205	227	2.08e1	SMART
LRR	229	251	1.91e1	SMART
LRR	252	275	5.34e-1	SMART
LRRCT	292	342	9.69e-9	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113072

SMART Domains

Protein: ENSMUSP00000108695
Gene: ENSMUSG00000011305

Domain	Start	End	E-Value	Type
Pfam:Perilipin	27	384	2.3e-128	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (50/50)

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 PLIN5, coat intracellular lipid storage droplets and protect them from lipolytic degradation (Dalen et al., 2007 [PubMed 17234449]).[supplied by OMIM, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit excessive fatty acid oxidation, abnormal lipid levels in organs depending on fed or fasted state, increased oxygen consumption and activity in the dark phase, and decreased cardiac muscle contractility in aged mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	AC	A	11: 9,632,032 (GRCm39)		probably null	Het
Abca6	A	T	11: 110,082,546 (GRCm39)	F1142L	probably benign	Het
Ap1g1	T	A	8: 110,577,764 (GRCm39)		probably null	Het
Apob	T	C	12: 8,058,238 (GRCm39)	V2207A	probably benign	Het
Cenpp	CAAACCTGAAAA	CAAA	13: 49,618,258 (GRCm39)		probably null	Het
Chd3	A	G	11: 69,260,069 (GRCm39)		probably benign	Het
Coch	C	A	12: 51,643,290 (GRCm39)	Y103*	probably null	Het
Cul3	A	T	1: 80,259,133 (GRCm39)	D382E	possibly damaging	Het
Cul5	T	C	9: 53,554,034 (GRCm39)	T291A	probably benign	Het
Dab1	T	C	4: 104,545,645 (GRCm39)		probably null	Het
Dmtf1	A	G	5: 9,190,356 (GRCm39)		probably benign	Het
Dpp4	T	C	2: 62,217,474 (GRCm39)	Y41C	probably damaging	Het
Eif2ak4	A	G	2: 118,238,841 (GRCm39)	I45M	probably damaging	Het
Epn3	T	C	11: 94,386,923 (GRCm39)	K149R	probably damaging	Het
Flnc	A	G	6: 29,455,537 (GRCm39)	E2029G	probably damaging	Het
Gm5799	A	G	14: 43,782,116 (GRCm39)	N96S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Grik5	T	C	7: 24,762,319 (GRCm39)	H224R	possibly damaging	Het
Lpar6	A	T	14: 73,476,537 (GRCm39)	E166V	probably benign	Het
Mical1	T	C	10: 41,360,985 (GRCm39)	L683P	probably damaging	Het
Mis18bp1	T	C	12: 65,196,149 (GRCm39)	I538M	possibly damaging	Het
Mobp	A	G	9: 119,997,311 (GRCm39)	R77G	possibly damaging	Het
Muc21	G	T	17: 35,931,633 (GRCm39)		probably benign	Het
Mylk	A	G	16: 34,797,383 (GRCm39)	H1614R	probably benign	Het
Or2y16	T	C	11: 49,334,713 (GRCm39)	F12L	probably benign	Het
Or4p18	G	A	2: 88,233,266 (GRCm39)	T4I	probably benign	Het
Or7c19	T	C	8: 85,957,205 (GRCm39)	L27P	probably damaging	Het
Osbpl1a	C	T	18: 12,895,697 (GRCm39)	V390I	probably benign	Het
Pcdha7	C	A	18: 37,107,705 (GRCm39)	D243E	probably benign	Het
Pi4ka	A	T	16: 17,168,770 (GRCm39)	N653K	possibly damaging	Het
Plod1	A	G	4: 148,000,758 (GRCm39)		probably benign	Het
Psd3	T	C	8: 68,149,641 (GRCm39)	K372E	probably damaging	Het
Psmd11	C	T	11: 80,351,566 (GRCm39)	T263I	probably benign	Het
Ptprt	A	T	2: 161,769,676 (GRCm39)	N396K	probably benign	Het
Rab39	T	C	9: 53,597,800 (GRCm39)	E155G	probably damaging	Het
Rimbp2	T	C	5: 128,874,712 (GRCm39)	D293G	probably benign	Het
Rnf220	T	C	4: 117,146,471 (GRCm39)		probably benign	Het
Rnmt	C	T	18: 68,454,430 (GRCm39)		probably benign	Het
Slc10a1	T	A	12: 81,002,802 (GRCm39)	I279F	probably damaging	Het
Sp140l1	G	A	1: 85,078,288 (GRCm39)	R54*	probably null	Het
Taar6	A	G	10: 23,861,250 (GRCm39)	Y99H	probably damaging	Het
Tas2r144	T	A	6: 42,193,048 (GRCm39)	F263I	probably benign	Het
Tex15	T	A	8: 34,061,768 (GRCm39)	N399K	possibly damaging	Het
Tlr9	T	A	9: 106,103,151 (GRCm39)	V814D	possibly damaging	Het
Tmem53	T	A	4: 117,122,908 (GRCm39)		probably benign	Het
Ubap2l	T	C	3: 89,928,337 (GRCm39)	I511V	possibly damaging	Het
Vmn2r60	T	C	7: 41,844,935 (GRCm39)	M766T	probably damaging	Het
Zfp462	T	C	4: 55,011,115 (GRCm39)	V1027A	probably damaging	Het

Other mutations in Plin5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0304:Plin5	UTSW	17	56,422,597 (GRCm39)	missense	probably damaging	1.00
R0981:Plin5	UTSW	17	56,421,020 (GRCm39)	missense	probably damaging	1.00
R1966:Plin5	UTSW	17	56,419,186 (GRCm39)	missense	probably damaging	1.00
R2153:Plin5	UTSW	17	56,423,836 (GRCm39)	missense	probably benign	0.02
R2368:Plin5	UTSW	17	56,422,588 (GRCm39)	missense	probably damaging	1.00
R4809:Plin5	UTSW	17	56,423,855 (GRCm39)	missense	probably benign	0.00
R5315:Plin5	UTSW	17	56,421,066 (GRCm39)	missense	probably benign	0.15
R5836:Plin5	UTSW	17	56,422,549 (GRCm39)	critical splice donor site	probably null
R7129:Plin5	UTSW	17	56,422,174 (GRCm39)	missense	probably null
R7510:Plin5	UTSW	17	56,420,975 (GRCm39)	missense	probably damaging	0.97
R8305:Plin5	UTSW	17	56,422,221 (GRCm39)	missense	probably benign	0.00
R9190:Plin5	UTSW	17	56,419,462 (GRCm39)	missense	probably damaging	1.00
R9248:Plin5	UTSW	17	56,419,324 (GRCm39)	missense	probably damaging	0.99
R9723:Plin5	UTSW	17	56,423,290 (GRCm39)	missense	probably damaging	1.00
X0028:Plin5	UTSW	17	56,423,324 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACCCCTAACAGTCCTTGAGAAG -3'
(R):5'- TGCTAGAATGCCACAGATCCC -3'

Sequencing Primer
(F):5'- CCTAACAGTCCTTGAGAAGAAATC -3'
(R):5'- AGATCCCCTGTGGTCTCAC -3'

Posted On

2016-07-06