Incidental Mutation 'R3030:Plin3'
| ID |
264712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plin3
|
| Ensembl Gene |
ENSMUSG00000024197 |
| Gene Name |
perilipin 3 |
| Synonyms |
M6prbp1, 1300012C15Rik, Tip47 |
| MMRRC Submission |
040546-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R3030 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
56585962-56597511 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56591184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 199
(K199E)
|
| 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: K199E
PolyPhen 2
Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000019726
Gene: ENSMUSG00000024197
AA Change: K199E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Perilipin
|
19 |
415 |
1.5e-166 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,477,682 (GRCm39) |
H1202Y |
possibly damaging |
Het |
| Acad8 |
G |
T |
9: 26,890,355 (GRCm39) |
H287N |
probably benign |
Het |
| Aimp2 |
T |
C |
5: 143,843,509 (GRCm39) |
Y27C |
probably damaging |
Het |
| Cd59a |
A |
T |
2: 103,941,160 (GRCm39) |
D46V |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cyp4f17 |
T |
C |
17: 32,725,950 (GRCm39) |
S28P |
possibly damaging |
Het |
| Dytn |
T |
A |
1: 63,672,678 (GRCm39) |
E575V |
probably benign |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fbln2 |
G |
A |
6: 91,210,697 (GRCm39) |
E214K |
probably damaging |
Het |
| H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
| Helb |
A |
T |
10: 119,925,487 (GRCm39) |
C963* |
probably null |
Het |
| Hspb1 |
C |
T |
5: 135,918,267 (GRCm39) |
Q205* |
probably null |
Het |
| Itpkc |
G |
A |
7: 26,911,733 (GRCm39) |
|
probably null |
Het |
| Kndc1 |
G |
T |
7: 139,481,123 (GRCm39) |
A70S |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
G |
A |
7: 5,330,747 (GRCm39) |
R550C |
probably damaging |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Ppp4r4 |
A |
G |
12: 103,573,215 (GRCm39) |
M705V |
probably benign |
Het |
| Slc22a3 |
T |
C |
17: 12,676,521 (GRCm39) |
I291V |
probably benign |
Het |
| Smarca2 |
A |
C |
19: 26,729,429 (GRCm39) |
N100T |
possibly damaging |
Het |
| Tmem260 |
T |
C |
14: 48,722,458 (GRCm39) |
F331S |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,220,598 (GRCm39) |
Q2445R |
possibly damaging |
Het |
| Umod |
A |
G |
7: 119,076,062 (GRCm39) |
S235P |
probably benign |
Het |
| Vdr |
T |
C |
15: 97,755,444 (GRCm39) |
T360A |
probably benign |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,402 (GRCm39) |
S236P |
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 |
|
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 |
|
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 |
2015-02-05 |
Incidental Mutation