Mutagenetix > Incidental Mutation

Incidental Mutation 'R9190:Plin5'

697709

Institutional Source

Beutler Lab

Gene Symbol

Plin5

Ensembl Gene

ENSMUSG00000011305

Gene Name

perilipin 5

Synonyms

Lsdp5, MLDP, 2310076L09Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9190 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56418601-56424596 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56419462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 320 (V320A)

Ref Sequence

ENSEMBL: ENSMUSP00000019808 (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: V320A

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

SMART Domains

Protein: ENSMUSP00000019808
Gene: ENSMUSG00000011305
AA Change: V320A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113072
AA Change: V320A

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

SMART Domains

Protein: ENSMUSP00000108695
Gene: ENSMUSG00000011305
AA Change: V320A

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (52/52)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,642,880 (GRCm39)	T183I	possibly damaging	Het
Abca13	T	A	11: 9,241,886 (GRCm39)	S1250T	probably damaging	Het
Adamts12	T	A	15: 11,336,446 (GRCm39)	S1510R	probably benign	Het
Adcy5	T	A	16: 35,089,364 (GRCm39)	C520*	probably null	Het
Arhgap21	A	T	2: 20,858,983 (GRCm39)	M1237K	probably null	Het
Atp8b4	T	A	2: 126,225,607 (GRCm39)	N541I	probably damaging	Het
Bbs12	G	T	3: 37,375,223 (GRCm39)	R557L	probably damaging	Het
Bcl7c	T	C	7: 127,266,200 (GRCm39)	T183A	probably benign	Het
Brd7	A	G	8: 89,081,274 (GRCm39)	S192P	probably damaging	Het
Calhm3	G	A	19: 47,146,121 (GRCm39)	A28V	probably benign	Het
Ccdc113	A	G	8: 96,263,101 (GRCm39)	N37S	probably damaging	Het
Cdh5	T	G	8: 104,867,337 (GRCm39)	V538G	probably damaging	Het
Cfap43	T	C	19: 47,726,293 (GRCm39)	E1639G	possibly damaging	Het
Clca3a2	C	T	3: 144,796,599 (GRCm39)	V203I	probably benign	Het
Clstn2	A	G	9: 97,414,815 (GRCm39)	F360L	probably damaging	Het
Cnst	GTGACACGCTTG	GTG	1: 179,407,039 (GRCm39)		probably benign	Het
Cog2	T	C	8: 125,260,058 (GRCm39)	Y234H	probably damaging	Het
Ddhd2	T	C	8: 26,244,495 (GRCm39)	S44G	probably benign	Het
Dync2i2	G	T	2: 29,922,211 (GRCm39)	H417N	probably benign	Het
Farp1	A	G	14: 121,492,988 (GRCm39)	E530G	probably damaging	Het
Fhad1	C	T	4: 141,646,058 (GRCm39)		probably null	Het
Foxj3	T	A	4: 119,477,538 (GRCm39)	C449*	probably null	Het
Fsbp	G	C	4: 11,584,005 (GRCm39)	V235L	probably benign	Het
Fuom	T	C	7: 139,681,252 (GRCm39)	E73G	probably benign	Het
Gm5134	A	G	10: 75,844,645 (GRCm39)	H667R	probably damaging	Het
Igsf21	A	G	4: 139,756,028 (GRCm39)	I361T	probably damaging	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Kmt2d	A	T	15: 98,749,896 (GRCm39)	V2599E	unknown	Het
Lama1	T	A	17: 68,111,514 (GRCm39)	M2255K		Het
Litafd	C	A	16: 8,501,647 (GRCm39)	P50T		Het
Lrrc32	A	G	7: 98,148,234 (GRCm39)	H338R	probably benign	Het
Map1b	C	A	13: 99,571,914 (GRCm39)	R269L	probably damaging	Het
Ms4a5	T	A	19: 11,256,733 (GRCm39)	I55F	probably damaging	Het
Muc5b	G	C	7: 141,411,939 (GRCm39)	L1628F	unknown	Het
Myo6	A	G	9: 80,195,384 (GRCm39)	Q918R	unknown	Het
Or1e25	T	A	11: 73,493,877 (GRCm39)	M157K	probably benign	Het
Or2t48	A	G	11: 58,420,161 (GRCm39)	V217A	possibly damaging	Het
Or5m11b	T	A	2: 85,805,884 (GRCm39)	I99N	possibly damaging	Het
Or9i1b	T	G	19: 13,896,967 (GRCm39)	N194K	probably benign	Het
Pals2	A	G	6: 50,157,219 (GRCm39)	R296G	probably damaging	Het
Ptx4	A	T	17: 25,342,257 (GRCm39)	Q244L	possibly damaging	Het
Rab3gap1	A	G	1: 127,858,495 (GRCm39)	T535A	probably benign	Het
Ranbp2	T	C	10: 58,313,117 (GRCm39)	F1279S	probably damaging	Het
Rgl1	T	C	1: 152,428,362 (GRCm39)	H254R	probably damaging	Het
Rida	C	T	15: 34,487,909 (GRCm39)	A69T	probably damaging	Het
Scn2a	T	C	2: 65,511,346 (GRCm39)	F131L	probably benign	Het
Septin1	T	C	7: 126,816,092 (GRCm39)	I141V	probably benign	Het
Slc10a6	A	G	5: 103,765,571 (GRCm39)	S171P	probably damaging	Het
Slc18a1	A	G	8: 69,519,790 (GRCm39)		probably null	Het
Slc38a6	T	C	12: 73,388,526 (GRCm39)	S247P	possibly damaging	Het
Tet2	A	T	3: 133,187,147 (GRCm39)	I1094K	possibly damaging	Het
Tmem234	C	T	4: 129,501,333 (GRCm39)	S138L	probably benign	Het
Trpv1	T	A	11: 73,145,148 (GRCm39)		probably null	Het
Vmn2r60	T	A	7: 41,844,935 (GRCm39)	M766K	probably damaging	Het
Vmn2r84	T	C	10: 130,226,843 (GRCm39)	N332D	probably benign	Het
Zfp292	A	T	4: 34,819,563 (GRCm39)	I258N	probably damaging	Het
Zxdc	A	G	6: 90,375,773 (GRCm39)	K750E	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
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
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'- GGCATCATTGTGTGCTTGCC -3'
(R):5'- CTAAGGCAGGCCAAAGCTTC -3'

Sequencing Primer
(F):5'- AGGATCTGCAGACTCAGCCTC -3'
(R):5'- GCAGGCCAAAGCTTCCATTAAATG -3'

Posted On

2022-02-07