Mutagenetix > Incidental Mutation

Incidental Mutation 'R7225:Plin3'

562122

Institutional Source

Beutler Lab

Gene Symbol

Plin3

Ensembl Gene

ENSMUSG00000024197

Gene Name

perilipin 3

Synonyms

M6prbp1, 1300012C15Rik, Tip47

MMRRC Submission

045297-MU

Accession Numbers

Essential gene?

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

Stock #

R7225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56585962-56597511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56593541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 58 (T58A)

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

possibly damaging
Transcript: ENSMUST00000019726
AA Change: T58A

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000019726
Gene: ENSMUSG00000024197
AA Change: T58A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,637,299 (GRCm39)		probably benign	Het
5730480H06Rik	T	A	5: 48,537,575 (GRCm39)		probably null	Het
Actn4	A	T	7: 28,598,124 (GRCm39)	V492D	probably damaging	Het
Alpk2	T	C	18: 65,438,270 (GRCm39)	E1041G	probably benign	Het
Asap1	G	A	15: 64,002,099 (GRCm39)	T404M	probably damaging	Het
Cd22	C	T	7: 30,577,059 (GRCm39)	A83T	not run	Het
Cdan1	T	C	2: 120,555,393 (GRCm39)	T783A	probably benign	Het
Cdh9	C	T	15: 16,856,159 (GRCm39)	S733F	probably damaging	Het
Cfap54	A	G	10: 92,740,236 (GRCm39)	F2282S	unknown	Het
Chst9	T	C	18: 15,585,718 (GRCm39)	K282E	probably damaging	Het
Clcn1	G	A	6: 42,270,396 (GRCm39)	D232N	probably damaging	Het
Clpb	T	A	7: 101,360,672 (GRCm39)	L234Q	probably damaging	Het
Cluh	T	G	11: 74,557,232 (GRCm39)		probably null	Het
Cnp	C	T	11: 100,471,413 (GRCm39)	Q352*	probably null	Het
Cyfip1	AGTGT	AGT	7: 55,577,937 (GRCm39)		probably null	Het
Dtx3	C	T	10: 127,027,358 (GRCm39)	C272Y	probably damaging	Het
Dync2h1	A	G	9: 7,142,756 (GRCm39)	I1156T	probably benign	Het
Epg5	T	A	18: 78,055,917 (GRCm39)	V1697E	probably benign	Het
Exoc3l4	A	G	12: 111,390,058 (GRCm39)	D211G	probably benign	Het
Fank1	A	G	7: 133,454,988 (GRCm39)	K36R	probably benign	Het
Fat4	T	C	3: 39,034,325 (GRCm39)	I2659T	possibly damaging	Het
Fer1l5	T	C	1: 36,460,033 (GRCm39)	W1893R	possibly damaging	Het
Gorasp2	T	A	2: 70,514,391 (GRCm39)	L256Q	probably damaging	Het
Gpc5	T	G	14: 115,789,710 (GRCm39)	V528G	probably damaging	Het
Gria2	T	A	3: 80,709,938 (GRCm39)		probably benign	Het
Htatip2	A	G	7: 49,420,604 (GRCm39)	E150G	possibly damaging	Het
Jak3	C	A	8: 72,138,155 (GRCm39)	Q869K	probably benign	Het
Jmjd1c	T	C	10: 67,061,844 (GRCm39)	V1218A	probably benign	Het
Kcnf1	A	G	12: 17,225,694 (GRCm39)	C176R	possibly damaging	Het
Kcnq4	A	G	4: 120,604,111 (GRCm39)	V88A	probably benign	Het
Lmod3	T	A	6: 97,224,345 (GRCm39)	D492V	probably benign	Het
Lurap1l	A	C	4: 80,829,718 (GRCm39)	S43R	probably benign	Het
Mamdc4	T	C	2: 25,455,558 (GRCm39)	H890R	possibly damaging	Het
Mertk	T	G	2: 128,643,482 (GRCm39)	N960K	possibly damaging	Het
Nudt9	C	A	5: 104,212,966 (GRCm39)	D346E	probably benign	Het
Obi1	T	C	14: 104,717,294 (GRCm39)	T360A	probably benign	Het
Opa1	A	G	16: 29,432,857 (GRCm39)		probably null	Het
Or5an1	A	T	19: 12,260,831 (GRCm39)	T140S	probably benign	Het
Oxr1	C	T	15: 41,677,004 (GRCm39)	P187L	not run	Het
Paxbp1	T	C	16: 90,823,956 (GRCm39)	E564G	probably damaging	Het
Pcdhb13	C	T	18: 37,577,490 (GRCm39)	R623C	possibly damaging	Het
Pkhd1l1	G	T	15: 44,410,337 (GRCm39)	V2615F	probably damaging	Het
Por	A	G	5: 135,761,441 (GRCm39)	D309G	probably benign	Het
Ppp2r5e	T	C	12: 75,515,353 (GRCm39)	K261R	probably damaging	Het
Ptpn18	C	T	1: 34,511,927 (GRCm39)	T366I	possibly damaging	Het
Ptprz1	G	A	6: 23,000,928 (GRCm39)	G1006E	possibly damaging	Het
Rpl12	C	T	2: 32,851,909 (GRCm39)		probably benign	Het
Rpsa	T	G	9: 119,960,222 (GRCm39)	F262V	probably benign	Het
Sh3pxd2a	G	T	19: 47,255,828 (GRCm39)	N991K	probably damaging	Het
Shank2	T	A	7: 143,838,762 (GRCm39)	N19K	probably benign	Het
Sik1	T	C	17: 32,073,274 (GRCm39)	T61A	probably benign	Het
Sipa1l3	A	C	7: 29,098,853 (GRCm39)	V472G	probably damaging	Het
Sirt6	A	G	10: 81,458,315 (GRCm39)	S313P	probably benign	Het
Slc12a7	A	G	13: 73,912,081 (GRCm39)		probably benign	Het
Sox13	A	T	1: 133,314,862 (GRCm39)	V266E	probably benign	Het
Spag9	T	C	11: 93,988,184 (GRCm39)	C833R	probably damaging	Het
Tcof1	T	C	18: 60,961,520 (GRCm39)	T812A	unknown	Het
Tnfsf4	A	G	1: 161,244,821 (GRCm39)	D170G	possibly damaging	Het
Tshz3	A	G	7: 36,469,082 (GRCm39)	N357S	probably damaging	Het
Txk	C	T	5: 72,858,057 (GRCm39)	D418N	probably damaging	Het
Ube2j2	A	G	4: 156,033,773 (GRCm39)		probably null	Het
Vmn2r84	G	A	10: 130,222,552 (GRCm39)	P556L	probably damaging	Het
Zfp1007	T	C	5: 109,825,015 (GRCm39)	H145R	possibly damaging	Het
Zfp442	T	C	2: 150,250,925 (GRCm39)	N326D	probably benign	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
R6516:Plin3	UTSW	17	56,593,223 (GRCm39)	missense	probably damaging	0.99
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'- TCACGGTAAATGCCCTCAATG -3'
(R):5'- TAGCCCAGCTGATCTATCCC -3'

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

Posted On

2019-06-26