Mutagenetix > Incidental Mutation

Incidental Mutation 'R4426:Plin3'

328204

Institutional Source

Beutler Lab

Gene Symbol

Plin3

Ensembl Gene

ENSMUSG00000024197

Gene Name

perilipin 3

Synonyms

M6prbp1, 1300012C15Rik, Tip47

MMRRC Submission

041697-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R4426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56585962-56597511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56593555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 53 (Y53C)

Ref Sequence

ENSEMBL: ENSMUSP00000019726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019726]

AlphaFold

Q9DBG5

PDB Structure

Crystal Structure of the C-terminus of TIP47 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000019726
AA Change: Y53C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000019726
Gene: ENSMUSG00000024197
AA Change: Y53C

Domain	Start	End	E-Value	Type
Pfam:Perilipin	19	415	1.5e-166	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domains of both cation-independent and cation-dependent MPRs, and is required for endosome-to-Golgi transport. This protein also binds directly to the GTPase RAB9 (RAB9A), a member of the RAS oncogene family. The interaction with RAB9 has been shown to increase the affinity of this protein for its cargo. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for a null mutation display enhanced cold tolerance and increased beige adipocyte formation and thermogenic activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Albfm1	G	T	5: 90,720,642 (GRCm39)	C271F	probably damaging	Het
Arhgef39	C	T	4: 43,497,112 (GRCm39)	G293E	possibly damaging	Het
Atp8a1	A	C	5: 67,932,171 (GRCm39)	I206S	probably benign	Het
Cacnb2	A	T	2: 14,980,026 (GRCm39)	R290*	probably null	Het
Ccdc137	T	C	11: 120,351,074 (GRCm39)	S159P	probably damaging	Het
Chil5	A	G	3: 105,926,943 (GRCm39)	S231P	probably damaging	Het
Cic	C	T	7: 24,993,433 (GRCm39)		probably benign	Het
Csmd3	A	G	15: 47,532,581 (GRCm39)	V2434A	possibly damaging	Het
Csnk1a1	A	G	18: 61,718,381 (GRCm39)		probably benign	Het
Eif4e1b	T	C	13: 54,932,296 (GRCm39)	S49P	probably benign	Het
Far1	C	A	7: 113,149,208 (GRCm39)	P194Q	probably benign	Het
Fut4	T	C	9: 14,662,677 (GRCm39)	T206A	possibly damaging	Het
Galnt7	G	T	8: 58,005,606 (GRCm39)	S209*	probably null	Het
Gas2l1	A	G	11: 5,013,908 (GRCm39)	V184A	probably benign	Het
Herc1	T	C	9: 66,403,287 (GRCm39)	L4402P	probably damaging	Het
Hoxa13	C	A	6: 52,237,714 (GRCm39)		probably benign	Het
Ighv1-9	T	A	12: 114,547,416 (GRCm39)	K42*	probably null	Het
Kif20a	C	T	18: 34,764,994 (GRCm39)	R743W	probably damaging	Het
Lama2	G	A	10: 27,298,554 (GRCm39)	R181C	probably damaging	Het
Lrp2	G	T	2: 69,336,692 (GRCm39)	T1360K	probably benign	Het
Map4k1	G	A	7: 28,688,020 (GRCm39)	V177I	probably damaging	Het
Nbea	G	A	3: 55,989,800 (GRCm39)	T352I	probably damaging	Het
Nde1	A	G	16: 14,006,200 (GRCm39)	T82A	possibly damaging	Het
Nes	A	G	3: 87,883,349 (GRCm39)	E536G	probably damaging	Het
Nms	C	T	1: 38,978,377 (GRCm39)	P4L	probably benign	Het
Nrip1	T	C	16: 76,088,293 (GRCm39)	Q1088R	possibly damaging	Het
Nwd1	A	G	8: 73,393,423 (GRCm39)	K229E	probably damaging	Het
Or51f1d	T	C	7: 102,701,018 (GRCm39)	L171P	probably damaging	Het
Or52ad1	A	G	7: 102,995,290 (GRCm39)	Y282H	probably damaging	Het
Pcdhac2	T	A	18: 37,277,796 (GRCm39)	S259T	probably benign	Het
Pdcd5	T	C	7: 35,345,605 (GRCm39)	D102G	possibly damaging	Het
Pgm1	T	C	4: 99,819,337 (GRCm39)	V169A	probably benign	Het
Pitpnm2	C	T	5: 124,280,186 (GRCm39)	E121K	probably benign	Het
Poc1b	T	C	10: 98,991,001 (GRCm39)		probably null	Het
Polr2c	A	T	8: 95,590,090 (GRCm39)	N232Y	probably damaging	Het
Ppp1r9b	A	T	11: 94,892,150 (GRCm39)	R188S	possibly damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rab3gap2	G	A	1: 184,967,539 (GRCm39)	S141N	probably damaging	Het
Radx	T	C	X: 138,381,645 (GRCm39)	V134A	possibly damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rnf166	A	G	8: 123,196,979 (GRCm39)	L91P	probably damaging	Het
Robo2	T	A	16: 73,745,154 (GRCm39)	M200L	probably damaging	Het
Rp1	A	T	1: 4,418,147 (GRCm39)	H988Q	probably benign	Het
Sbno2	T	C	10: 79,908,192 (GRCm39)	K69R	probably null	Het
Sgce	G	A	6: 4,691,459 (GRCm39)	A295V	probably damaging	Het
Shc3	C	G	13: 51,634,130 (GRCm39)		probably null	Het
Slc44a1	T	C	4: 53,563,286 (GRCm39)	V671A	probably benign	Het
Sptbn4	A	C	7: 27,123,223 (GRCm39)	L233R	probably damaging	Het
Stx5a	A	G	19: 8,727,104 (GRCm39)	T252A	probably benign	Het
Timd6	T	A	11: 46,475,247 (GRCm39)	F147L	probably benign	Het
Tmem87b	C	T	2: 128,688,670 (GRCm39)	A485V	probably benign	Het
Tns1	A	G	1: 74,024,908 (GRCm39)	I403T	probably damaging	Het
Ttll10	G	C	4: 156,133,018 (GRCm39)	T22R	possibly damaging	Het
Uevld	A	T	7: 46,589,890 (GRCm39)	S293T	probably benign	Het
Utp18	T	C	11: 93,757,264 (GRCm39)	N467D	probably damaging	Het
Vmn1r39	A	T	6: 66,782,345 (GRCm39)		probably null	Het
Vmn2r106	A	G	17: 20,505,641 (GRCm39)	S18P	probably benign	Het
Vmn2r61	A	T	7: 41,950,157 (GRCm39)	H859L	probably benign	Het
Vmn2r61	T	C	7: 41,950,159 (GRCm39)	S860P	probably benign	Het
Vmn2r72	G	A	7: 85,387,036 (GRCm39)	R843*	probably null	Het
Vwc2	A	G	11: 11,104,235 (GRCm39)	T256A	probably damaging	Het
Zfp715	T	C	7: 42,960,516 (GRCm39)	D25G	probably damaging	Het

Other mutations in Plin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Plin3	APN	17	56,586,814 (GRCm39)	missense	probably damaging	1.00
IGL01522:Plin3	APN	17	56,587,799 (GRCm39)	nonsense	probably null
IGL01793:Plin3	APN	17	56,588,540 (GRCm39)	missense	probably benign
IGL02355:Plin3	APN	17	56,593,636 (GRCm39)	missense	probably benign	0.24
IGL02362:Plin3	APN	17	56,593,636 (GRCm39)	missense	probably benign	0.24
R0053:Plin3	UTSW	17	56,586,892 (GRCm39)	missense	probably damaging	1.00
R0053:Plin3	UTSW	17	56,586,892 (GRCm39)	missense	probably damaging	1.00
R1458:Plin3	UTSW	17	56,591,337 (GRCm39)	missense	probably benign	0.05
R1900:Plin3	UTSW	17	56,586,824 (GRCm39)	missense	possibly damaging	0.47
R2107:Plin3	UTSW	17	56,591,391 (GRCm39)	missense	probably benign	0.01
R2173:Plin3	UTSW	17	56,586,891 (GRCm39)	missense	possibly damaging	0.77
R3030:Plin3	UTSW	17	56,591,184 (GRCm39)	missense	possibly damaging	0.64
R3808:Plin3	UTSW	17	56,593,275 (GRCm39)	missense	probably damaging	1.00
R3872:Plin3	UTSW	17	56,591,181 (GRCm39)	missense	probably damaging	1.00
R5991:Plin3	UTSW	17	56,593,576 (GRCm39)	missense	probably damaging	0.99
R6261:Plin3	UTSW	17	56,588,488 (GRCm39)	nonsense	probably null
R6516:Plin3	UTSW	17	56,593,223 (GRCm39)	missense	probably damaging	0.99
R7225:Plin3	UTSW	17	56,593,541 (GRCm39)	missense	possibly damaging	0.46
R7574:Plin3	UTSW	17	56,591,192 (GRCm39)	missense	possibly damaging	0.95
R7786:Plin3	UTSW	17	56,586,757 (GRCm39)	missense	probably benign	0.04
R8325:Plin3	UTSW	17	56,593,268 (GRCm39)	missense	probably benign	0.04
R8738:Plin3	UTSW	17	56,593,490 (GRCm39)	missense	probably benign	0.03
R9229:Plin3	UTSW	17	56,591,315 (GRCm39)	missense	probably damaging	1.00
R9495:Plin3	UTSW	17	56,587,824 (GRCm39)	missense	probably benign	0.27
R9511:Plin3	UTSW	17	56,591,225 (GRCm39)	missense	probably damaging	0.98
R9514:Plin3	UTSW	17	56,587,824 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- ACGGTAAATGCCCTCAATGG -3'
(R):5'- TAGCCCAGCTGATCTATCCC -3'

Sequencing Primer
(F):5'- CCTCAATGGTGGGCAGAGAC -3'
(R):5'- TGAGCTTCTCACCTGGTC -3'

Posted On

2015-07-07