Mutagenetix > Incidental Mutation

Incidental Mutation 'R3872:Plin3'

276643

Institutional Source

Beutler Lab

Gene Symbol

Plin3

Ensembl Gene

ENSMUSG00000024197

Gene Name

perilipin 3

Synonyms

M6prbp1, 1300012C15Rik, Tip47

MMRRC Submission

040790-MU

Accession Numbers

Essential gene?

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

Stock #

R3872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56585962-56597511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56591181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 200 (S200P)

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: S200P

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

SMART Domains

Protein: ENSMUSP00000019726
Gene: ENSMUSG00000024197
AA Change: S200P

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

Meta Mutation Damage Score

0.9083

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (61/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,901,045 (GRCm39)	E1117G	possibly damaging	Het
Abca5	T	A	11: 110,201,059 (GRCm39)	Y447F	probably damaging	Het
Akap12	G	A	10: 4,307,590 (GRCm39)	V1467I	probably benign	Het
Baz2a	T	A	10: 127,959,979 (GRCm39)	M1419K	probably damaging	Het
Bhmt-ps1	T	C	4: 26,369,201 (GRCm39)		noncoding transcript	Het
Cabcoco1	T	C	10: 68,352,108 (GRCm39)	Y68C	probably damaging	Het
Car12	C	A	9: 66,624,834 (GRCm39)		probably benign	Het
Cic	T	C	7: 24,971,124 (GRCm39)	V285A	possibly damaging	Het
Col19a1	A	G	1: 24,614,408 (GRCm39)		probably benign	Het
Col6a4	T	C	9: 105,890,858 (GRCm39)	N1812S	possibly damaging	Het
Cry1	T	C	10: 84,969,024 (GRCm39)		probably null	Het
Dlgap4	T	C	2: 156,591,267 (GRCm39)	S818P	probably benign	Het
Dlx5	G	T	6: 6,878,209 (GRCm39)	P274T	probably benign	Het
Dnah2	A	G	11: 69,320,174 (GRCm39)	I3965T	probably damaging	Het
Dnah5	A	G	15: 28,411,656 (GRCm39)	K3675R	possibly damaging	Het
Dpp6	A	G	5: 27,926,056 (GRCm39)	Y710C	probably damaging	Het
Dsc3	C	A	18: 20,104,565 (GRCm39)	K587N	probably damaging	Het
Eif1ad10	T	C	12: 88,216,476 (GRCm39)	D132G	unknown	Het
Epcam	C	A	17: 87,947,354 (GRCm39)	T36K	possibly damaging	Het
Epha2	T	C	4: 141,035,716 (GRCm39)	W51R	probably damaging	Het
Eya4	A	T	10: 23,031,870 (GRCm39)	I251N	probably damaging	Het
Fbxo21	G	A	5: 118,138,394 (GRCm39)	V447I	possibly damaging	Het
Firrm	A	T	1: 163,814,533 (GRCm39)	S137T	probably damaging	Het
Frg2f1	T	A	4: 119,388,155 (GRCm39)	T115S	possibly damaging	Het
Hecw2	A	T	1: 53,871,916 (GRCm39)		probably benign	Het
Igfals	G	A	17: 25,100,579 (GRCm39)	V557I	possibly damaging	Het
Iqca1	A	T	1: 90,017,203 (GRCm39)	Y411N	probably damaging	Het
Itpa	T	G	2: 130,522,930 (GRCm39)	S176A	probably damaging	Het
Klhl1	A	G	14: 96,755,615 (GRCm39)	F47L	probably benign	Het
Krt26	T	C	11: 99,225,570 (GRCm39)	K304E	probably damaging	Het
Krt34	T	C	11: 99,932,243 (GRCm39)	H27R	probably benign	Het
Mia3	T	C	1: 183,138,342 (GRCm39)	E791G	probably benign	Het
Mroh2b	A	T	15: 4,954,543 (GRCm39)	K669*	probably null	Het
Msmo1	C	T	8: 65,175,497 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,226,867 (GRCm39)	T1387A	probably benign	Het
Myo1g	C	T	11: 6,464,886 (GRCm39)	V463I	possibly damaging	Het
Or12d12	T	A	17: 37,610,870 (GRCm39)	T148S	probably benign	Het
Or4f6	T	C	2: 111,838,668 (GRCm39)	T288A	possibly damaging	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or5l13	T	A	2: 87,779,874 (GRCm39)	R234S	probably damaging	Het
Pde10a	C	A	17: 8,975,923 (GRCm39)	T16K	possibly damaging	Het
Pfas	T	C	11: 68,891,089 (GRCm39)	T310A	probably damaging	Het
Phb2	G	A	6: 124,693,394 (GRCm39)		probably null	Het
Plxna1	C	A	6: 89,309,674 (GRCm39)	E1087*	probably null	Het
Rnf17	G	T	14: 56,712,870 (GRCm39)	R779L	possibly damaging	Het
Sacs	C	T	14: 61,385,517 (GRCm39)	T6M	probably benign	Het
Scfd1	A	G	12: 51,438,979 (GRCm39)	Y147C	probably damaging	Het
Septin1	T	C	7: 126,814,447 (GRCm39)		probably benign	Het
Septin5	A	G	16: 18,441,723 (GRCm39)	L344P	probably damaging	Het
Sgsh	A	G	11: 119,241,773 (GRCm39)	L111P	probably damaging	Het
Slc35f1	A	G	10: 52,898,006 (GRCm39)	D139G	possibly damaging	Het
Sod3	A	G	5: 52,525,631 (GRCm39)	Y110C	probably damaging	Het
Stk35	T	C	2: 129,652,495 (GRCm39)	V332A	possibly damaging	Het
Tacc2	C	T	7: 130,224,152 (GRCm39)	T279M	probably benign	Het
Tdo2	T	C	3: 81,875,393 (GRCm39)	E187G	probably benign	Het
Tmem150b	A	T	7: 4,727,360 (GRCm39)	Y48*	probably null	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vmn2r60	C	T	7: 41,785,878 (GRCm39)	S227L	probably benign	Het
Vps33a	C	T	5: 123,669,255 (GRCm39)	V549I	probably benign	Het
Zfp788	T	A	7: 41,298,868 (GRCm39)	Y449*	probably null	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
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
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'- GCCAACCATGAGGAATCGAG -3'
(R):5'- CAGTGTCTAGTGCGAAGGAAAC -3'

Sequencing Primer
(F):5'- GGTACTCATTGCAAAGCCTG -3'
(R):5'- AGGAAACAGTGGCCACCCG -3'

Posted On

2015-04-06