Mutagenetix > Incidental Mutation

Incidental Mutation 'R0981:Plin5'

97224

Institutional Source

Beutler Lab

Gene Symbol

Plin5

Ensembl Gene

ENSMUSG00000011305

Gene Name

perilipin 5

Synonyms

Lsdp5, MLDP, 2310076L09Rik

Accession Numbers

Essential gene?

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

Stock #

R0981 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56418601-56424596 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 56421020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 215 (R215L)

Ref Sequence

ENSEMBL: ENSMUSP00000108695 (fasta)

Gene Model

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

AlphaFold

Q8BVZ1

Predicted Effect

probably benign
Transcript: ENSMUST00000002908

SMART Domains

Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831

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: ENSMUST00000019808
AA Change: R215L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019808
Gene: ENSMUSG00000011305
AA Change: R215L

Domain	Start	End	E-Value	Type
Pfam:Perilipin	31	383	1.2e-119	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113072
AA Change: R215L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108695
Gene: ENSMUSG00000011305
AA Change: R215L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190703

SMART Domains

Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831

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

Coding Region Coverage

1x: 99.5%
3x: 98.4%
10x: 95.4%
20x: 89.6%

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,831,257 (GRCm39)	C942S	probably damaging	Het
Alpk1	T	C	3: 127,473,051 (GRCm39)	N984S	possibly damaging	Het
Ankrd55	T	C	13: 112,459,610 (GRCm39)	V68A	possibly damaging	Het
Asap2	T	C	12: 21,315,961 (GRCm39)	S960P	probably damaging	Het
Atp2b1	T	A	10: 98,851,491 (GRCm39)	N66K	probably damaging	Het
Cckar	C	T	5: 53,863,632 (GRCm39)	G39R	probably damaging	Het
Cimap1a	A	G	7: 140,428,208 (GRCm39)	M7V	probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Cpb1	C	A	3: 20,329,654 (GRCm39)	R24L	probably benign	Het
Dlg5	T	G	14: 24,204,699 (GRCm39)	R1258S	probably damaging	Het
Fanci	A	G	7: 79,054,914 (GRCm39)	Q148R	probably benign	Het
Fcgbp	T	A	7: 27,784,535 (GRCm39)	Y198*	probably null	Het
Gapt	G	C	13: 110,490,273 (GRCm39)	T130R	probably damaging	Het
Garin5b	T	A	7: 4,760,588 (GRCm39)		probably null	Het
Glis1	A	G	4: 107,472,239 (GRCm39)	E272G	probably damaging	Het
Gm13741	T	C	2: 87,486,578 (GRCm39)	N229S	probably benign	Het
Gsdmc4	T	A	15: 63,763,922 (GRCm39)	I392F	probably damaging	Het
H2-M2	T	C	17: 37,793,521 (GRCm39)	T162A	probably benign	Het
Hk2	G	A	6: 82,720,949 (GRCm39)	R190W	probably damaging	Het
Irf1	T	C	11: 53,664,548 (GRCm39)	*52R	probably null	Het
Lman2l	T	A	1: 36,484,314 (GRCm39)	M1L	unknown	Het
Mgat1	C	T	11: 49,151,882 (GRCm39)	R122C	probably damaging	Het
Mtrf1	T	C	14: 79,639,030 (GRCm39)	L54S	probably benign	Het
Myo5c	A	T	9: 75,178,873 (GRCm39)	L676F	probably damaging	Het
Ofcc1	A	G	13: 40,226,174 (GRCm39)	I786T	probably damaging	Het
Or5p64	AGGT	A	7: 107,855,228 (GRCm39)		probably benign	Het
Or5p64	GGTAG	GG	7: 107,855,229 (GRCm39)		probably benign	Het
Pfn1	G	A	11: 70,542,964 (GRCm39)	R137C	probably benign	Het
Pgbd5	G	A	8: 125,111,032 (GRCm39)	R129*	probably null	Het
Pibf1	T	C	14: 99,388,179 (GRCm39)		probably null	Het
Pkd2l1	A	G	19: 44,142,861 (GRCm39)		probably null	Het
Prrc2c	C	T	1: 162,533,550 (GRCm39)		probably benign	Het
Rnasel	T	G	1: 153,635,345 (GRCm39)	C608G	probably benign	Het
Slc28a2	T	A	2: 122,281,465 (GRCm39)	V218D	probably damaging	Het
Snx1	T	C	9: 66,016,841 (GRCm39)	I29V	probably benign	Het
Tenm3	A	G	8: 48,752,000 (GRCm39)	W939R	probably damaging	Het
Tmem237	C	A	1: 59,157,164 (GRCm39)	R15L	probably damaging	Het
Tmx3	T	C	18: 90,555,324 (GRCm39)	V347A	probably benign	Het
Vmn1r191	T	C	13: 22,363,389 (GRCm39)	T122A	probably benign	Het
Wdfy4	G	T	14: 32,869,049 (GRCm39)	N326K	probably benign	Het
Zfp408	A	G	2: 91,475,528 (GRCm39)	L642P	probably benign	Het
Zfp808	C	A	13: 62,319,487 (GRCm39)	H239N	possibly 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
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
R5173:Plin5	UTSW	17	56,422,548 (GRCm39)	splice site	probably null
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'- ACATACTCAGTGAATGCCCCGC -3'
(R):5'- ACTACACTTCATAGGGTTTGGGGAAGG -3'

Sequencing Primer
(F):5'- GCCCTCAGCGATAGCCC -3'
(R):5'- AAAGGGGTCGATGTTGTATATCTG -3'

Posted On

2014-01-05