Mutagenetix > Incidental Mutation

Incidental Mutation 'R6516:Plin3'

520763

Institutional Source

Beutler Lab

Gene Symbol

Plin3

Ensembl Gene

ENSMUSG00000024197

Gene Name

perilipin 3

Synonyms

M6prbp1, 1300012C15Rik, Tip47

MMRRC Submission

044643-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R6516 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56585962-56597511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56593223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 113 (P113L)

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: P113L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019726
Gene: ENSMUSG00000024197
AA Change: P113L

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	A	T	1: 161,780,235 (GRCm39)	V93E	probably benign	Het
Adam18	A	G	8: 25,164,703 (GRCm39)	L4P	probably damaging	Het
Adcy8	A	T	15: 64,571,236 (GRCm39)	Y1136N	probably damaging	Het
Adgrl3	A	G	5: 81,613,119 (GRCm39)	Y184C	probably damaging	Het
Ankrd6	G	A	4: 32,836,427 (GRCm39)	R43W	probably damaging	Het
Ano8	G	T	8: 71,934,424 (GRCm39)		probably null	Het
Arhgap31	A	G	16: 38,429,766 (GRCm39)	F370L	possibly damaging	Het
C7	A	G	15: 5,086,563 (GRCm39)	V26A	probably damaging	Het
Cimap1a	G	A	7: 140,428,718 (GRCm39)	G128S	probably damaging	Het
Clec4a2	C	A	6: 123,116,365 (GRCm39)	Q153K	probably damaging	Het
Cyp2c67	T	A	19: 39,605,873 (GRCm39)	D341V	probably damaging	Het
Ddo	T	A	10: 40,507,741 (GRCm39)	V46E	probably damaging	Het
Deup1	A	C	9: 15,521,910 (GRCm39)	M85R	probably damaging	Het
Dmxl2	A	T	9: 54,323,960 (GRCm39)	S1141R	probably damaging	Het
Dnah2	A	G	11: 69,356,212 (GRCm39)	F2147L	probably benign	Het
Dock10	T	C	1: 80,518,178 (GRCm39)	E1298G	probably damaging	Het
Dock4	T	A	12: 40,781,898 (GRCm39)	V701E	possibly damaging	Het
Dthd1	A	T	5: 62,996,607 (GRCm39)	K447N	probably benign	Het
Eno2	G	T	6: 124,738,672 (GRCm39)		probably null	Het
Fastkd5	T	A	2: 130,456,221 (GRCm39)	T790S	possibly damaging	Het
Fer1l4	C	T	2: 155,877,119 (GRCm39)	V1139M	probably damaging	Het
Gpbp1	A	T	13: 111,589,636 (GRCm39)	H111Q	probably benign	Het
Grk3	A	T	5: 113,109,415 (GRCm39)		probably benign	Het
Itpr3	C	T	17: 27,310,344 (GRCm39)	A403V	probably benign	Het
Kcnc2	A	G	10: 112,297,905 (GRCm39)	T610A	probably benign	Het
Kcnh1	T	A	1: 192,101,089 (GRCm39)	D560E	possibly damaging	Het
Klc4	A	T	17: 46,953,181 (GRCm39)	N116K	probably damaging	Het
Krba1	C	T	6: 48,390,206 (GRCm39)	Q656*	probably null	Het
Mchr1	A	G	15: 81,122,069 (GRCm39)	Y273C	probably damaging	Het
Myh15	T	A	16: 48,957,996 (GRCm39)	C938S	probably benign	Het
Nutm1	T	C	2: 112,081,562 (GRCm39)	E367G	probably damaging	Het
Or10a3n	A	T	7: 108,492,972 (GRCm39)	I214K	probably damaging	Het
Or4e2	A	T	14: 52,688,586 (GRCm39)	T239S	probably damaging	Het
Or5w18	A	T	2: 87,633,114 (GRCm39)	Y127F	possibly damaging	Het
Or8b48	A	G	9: 38,492,768 (GRCm39)	N65S	probably damaging	Het
Pikfyve	G	T	1: 65,304,940 (GRCm39)	M1697I	probably benign	Het
Plcd1	A	G	9: 118,905,271 (GRCm39)	S147P	probably damaging	Het
Pum3	C	A	19: 27,403,408 (GRCm39)	S31I	probably benign	Het
Robo1	T	C	16: 72,821,241 (GRCm39)	V1327A	probably benign	Het
Rpl15-ps6	A	G	15: 52,341,200 (GRCm39)		noncoding transcript	Het
Rpl34	G	A	3: 130,522,716 (GRCm39)	P50L	probably benign	Het
Scnn1b	T	C	7: 121,511,335 (GRCm39)	S341P	probably damaging	Het
Sh3bp5	A	T	14: 31,097,629 (GRCm39)	M362K	possibly damaging	Het
Slc24a5	A	G	2: 124,930,027 (GRCm39)	T443A	probably benign	Het
Slc25a12	T	C	2: 71,154,427 (GRCm39)	Y81C	probably damaging	Het
Slc43a3	A	G	2: 84,788,105 (GRCm39)	T496A	probably benign	Het
Smap2	C	T	4: 120,840,303 (GRCm39)		probably null	Het
Sptbn5	T	A	2: 119,878,431 (GRCm39)		probably benign	Het
Taar5	A	G	10: 23,847,564 (GRCm39)	S321G	possibly damaging	Het
Tbx21	T	C	11: 96,990,782 (GRCm39)	I299V	possibly damaging	Het
Tcerg1	T	C	18: 42,663,957 (GRCm39)		probably null	Het
Tenm3	G	C	8: 48,870,257 (GRCm39)	Q179E	probably benign	Het
Tmem176a	T	G	6: 48,821,002 (GRCm39)		probably null	Het
Tmem236	T	C	2: 14,200,791 (GRCm39)	S119P	probably benign	Het
Tmprss11a	C	T	5: 86,567,987 (GRCm39)	V247M	probably damaging	Het
Tnks1bp1	T	C	2: 84,901,071 (GRCm39)	S1593P	probably damaging	Het
Ttc9b	T	A	7: 27,355,412 (GRCm39)	D227E	probably benign	Het
Usp33	A	C	3: 152,079,053 (GRCm39)	Q435P	probably benign	Het
Vti1a	C	T	19: 55,369,390 (GRCm39)	A94V	probably damaging	Het
Wdr3	A	G	3: 100,052,992 (GRCm39)	Y587H	probably damaging	Het
Wwc1	G	A	11: 35,758,129 (GRCm39)	A739V	probably benign	Het
Zfp628	C	G	7: 4,923,201 (GRCm39)	Y474*	probably null	Het
Zfp820	A	T	17: 22,038,354 (GRCm39)	C325S	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
R4426:Plin3	UTSW	17	56,593,555 (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
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'- GGATCCAGAGGGCATTCTTGAC -3'
(R):5'- AGTGAGTTGAGGACCCCAAG -3'

Sequencing Primer
(F):5'- TTGACTGAATGTGGCCAACC -3'
(R):5'- GCCTCTCATTTGGAAGGAATCAC -3'

Posted On

2018-06-06