Incidental Mutation 'IGL00231:Plin1'
ID |
2341 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Plin1
|
Ensembl Gene |
ENSMUSG00000030546 |
Gene Name |
perilipin 1 |
Synonyms |
perilipin B, Plin, Peri, perilipin A, 6030432J05Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00231
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
79370912-79382652 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 79376408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032762]
[ENSMUST00000178257]
[ENSMUST00000205413]
[ENSMUST00000205747]
[ENSMUST00000205915]
|
AlphaFold |
Q8CGN5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032762
|
SMART Domains |
Protein: ENSMUSP00000032762 Gene: ENSMUSG00000030546
Domain | Start | End | E-Value | Type |
Pfam:Perilipin
|
14 |
399 |
7.5e-117 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178257
|
SMART Domains |
Protein: ENSMUSP00000136996 Gene: ENSMUSG00000030546
Domain | Start | End | E-Value | Type |
Pfam:Perilipin
|
7 |
400 |
1.2e-123 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205413
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205553
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205747
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205915
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206083
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009] PHENOTYPE: Homozygous inactivation of this gene leads to increased lean body mass and altered adipocyte lipolysis, leptin production and susceptibility to diet-induced obesity. Increased oxygen and food consumption, impaired cold adaptation, and altered glucose andblood homeostasis have also been observed. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
A |
G |
4: 86,303,877 (GRCm39) |
T1346A |
probably benign |
Het |
Ccdc102a |
T |
C |
8: 95,638,266 (GRCm39) |
|
probably null |
Het |
Cgrrf1 |
T |
C |
14: 47,069,779 (GRCm39) |
F16S |
probably damaging |
Het |
Clybl |
T |
C |
14: 122,616,610 (GRCm39) |
|
probably benign |
Het |
Cubn |
T |
C |
2: 13,386,660 (GRCm39) |
E1535G |
possibly damaging |
Het |
Dmrtc1b |
C |
A |
X: 101,757,233 (GRCm39) |
P226H |
probably benign |
Het |
Dnah17 |
G |
A |
11: 117,979,040 (GRCm39) |
A1784V |
possibly damaging |
Het |
Dnajc24 |
A |
G |
2: 105,832,348 (GRCm39) |
Y12H |
probably damaging |
Het |
Drd1 |
T |
C |
13: 54,207,486 (GRCm39) |
T236A |
probably benign |
Het |
Ep400 |
A |
T |
5: 110,835,707 (GRCm39) |
V1934D |
unknown |
Het |
Flt1 |
A |
G |
5: 147,517,110 (GRCm39) |
|
probably null |
Het |
Fut8 |
A |
G |
12: 77,495,262 (GRCm39) |
K284R |
probably benign |
Het |
Hcn1 |
A |
G |
13: 118,112,529 (GRCm39) |
E831G |
probably damaging |
Het |
Inpp5j |
A |
T |
11: 3,450,009 (GRCm39) |
|
probably benign |
Het |
Insig2 |
A |
G |
1: 121,233,676 (GRCm39) |
Y213H |
probably damaging |
Het |
Kcnh4 |
G |
A |
11: 100,647,821 (GRCm39) |
|
probably benign |
Het |
Kifc2 |
T |
A |
15: 76,551,662 (GRCm39) |
|
probably benign |
Het |
Krt75 |
T |
C |
15: 101,481,081 (GRCm39) |
E231G |
probably benign |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mfsd4b2 |
T |
A |
10: 39,801,057 (GRCm39) |
|
probably benign |
Het |
Micall2 |
T |
A |
5: 139,703,311 (GRCm39) |
|
probably null |
Het |
Or10ag2 |
A |
G |
2: 87,248,910 (GRCm39) |
T173A |
possibly damaging |
Het |
Or8s5 |
C |
T |
15: 98,238,054 (GRCm39) |
S256N |
possibly damaging |
Het |
Osbp2 |
C |
T |
11: 3,676,561 (GRCm39) |
D287N |
possibly damaging |
Het |
Ppl |
T |
C |
16: 4,907,409 (GRCm39) |
N962S |
probably benign |
Het |
Psg25 |
C |
T |
7: 18,260,106 (GRCm39) |
|
probably benign |
Het |
Ptprt |
A |
T |
2: 161,652,544 (GRCm39) |
D601E |
probably benign |
Het |
S100a7l2 |
A |
G |
3: 90,995,665 (GRCm39) |
M79T |
probably benign |
Het |
Sbno2 |
C |
A |
10: 79,900,340 (GRCm39) |
|
probably benign |
Het |
Sntg2 |
T |
C |
12: 30,326,720 (GRCm39) |
D147G |
probably benign |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Stam2 |
T |
A |
2: 52,596,418 (GRCm39) |
I307F |
possibly damaging |
Het |
Tbx21 |
T |
G |
11: 96,989,749 (GRCm39) |
E481A |
probably damaging |
Het |
Tsc2 |
G |
A |
17: 24,827,081 (GRCm39) |
T876I |
probably damaging |
Het |
Wdfy4 |
T |
C |
14: 32,824,496 (GRCm39) |
I1308V |
possibly damaging |
Het |
Wdr37 |
C |
T |
13: 8,870,541 (GRCm39) |
V143I |
probably damaging |
Het |
Wdr43 |
T |
G |
17: 71,959,809 (GRCm39) |
Y550D |
probably damaging |
Het |
Wnk4 |
A |
G |
11: 101,159,574 (GRCm39) |
D593G |
possibly damaging |
Het |
|
Other mutations in Plin1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03248:Plin1
|
APN |
7 |
79,372,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R0408:Plin1
|
UTSW |
7 |
79,372,394 (GRCm39) |
missense |
probably damaging |
0.97 |
R1163:Plin1
|
UTSW |
7 |
79,379,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R1524:Plin1
|
UTSW |
7 |
79,376,338 (GRCm39) |
missense |
probably benign |
0.07 |
R2004:Plin1
|
UTSW |
7 |
79,375,378 (GRCm39) |
critical splice donor site |
probably benign |
|
R2363:Plin1
|
UTSW |
7 |
79,376,139 (GRCm39) |
critical splice donor site |
probably null |
|
R5115:Plin1
|
UTSW |
7 |
79,379,692 (GRCm39) |
unclassified |
probably benign |
|
R5226:Plin1
|
UTSW |
7 |
79,372,447 (GRCm39) |
missense |
probably damaging |
0.99 |
R5354:Plin1
|
UTSW |
7 |
79,375,469 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5492:Plin1
|
UTSW |
7 |
79,375,460 (GRCm39) |
nonsense |
probably null |
|
R5545:Plin1
|
UTSW |
7 |
79,376,257 (GRCm39) |
missense |
probably benign |
0.27 |
R5647:Plin1
|
UTSW |
7 |
79,371,320 (GRCm39) |
missense |
probably benign |
0.25 |
R6191:Plin1
|
UTSW |
7 |
79,371,347 (GRCm39) |
missense |
probably benign |
0.00 |
R6299:Plin1
|
UTSW |
7 |
79,371,224 (GRCm39) |
missense |
probably benign |
0.04 |
R7126:Plin1
|
UTSW |
7 |
79,376,412 (GRCm39) |
splice site |
probably null |
|
R7203:Plin1
|
UTSW |
7 |
79,373,192 (GRCm39) |
missense |
probably damaging |
0.98 |
R8125:Plin1
|
UTSW |
7 |
79,379,599 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8190:Plin1
|
UTSW |
7 |
79,373,028 (GRCm39) |
missense |
probably benign |
0.00 |
R8407:Plin1
|
UTSW |
7 |
79,373,051 (GRCm39) |
missense |
probably benign |
|
R9374:Plin1
|
UTSW |
7 |
79,372,544 (GRCm39) |
missense |
probably benign |
0.17 |
R9499:Plin1
|
UTSW |
7 |
79,372,544 (GRCm39) |
missense |
probably benign |
0.17 |
Z1177:Plin1
|
UTSW |
7 |
79,371,299 (GRCm39) |
missense |
probably benign |
0.43 |
|
Posted On |
2011-12-09 |