Incidental Mutation 'IGL03248:Plin1'
| ID |
414495 |
| 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 # |
IGL03248
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
79370912-79382652 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79372382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 86
(V86I)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032762]
[ENSMUST00000178257]
[ENSMUST00000205747]
[ENSMUST00000205915]
|
| AlphaFold |
Q8CGN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032762
AA Change: V397I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032762
Gene: ENSMUSG00000030546
AA Change: V397I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Perilipin
|
14 |
399 |
7.5e-117 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178257
AA Change: V397I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136996
Gene: ENSMUSG00000030546
AA Change: V397I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Perilipin
|
7 |
400 |
1.2e-123 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205553
AA Change: V86I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205747
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205915
AA Change: V397I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
C |
9: 122,197,290 (GRCm39) |
F116S |
probably damaging |
Het |
| Accsl |
A |
G |
2: 93,693,129 (GRCm39) |
|
probably benign |
Het |
| Adgrl2 |
T |
A |
3: 148,523,036 (GRCm39) |
E165V |
probably damaging |
Het |
| Alb |
T |
C |
5: 90,609,573 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 14,978,847 (GRCm39) |
V38A |
probably benign |
Het |
| Astn2 |
A |
G |
4: 65,664,530 (GRCm39) |
|
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,159,235 (GRCm39) |
R154H |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,868,844 (GRCm39) |
Y112H |
probably benign |
Het |
| Chrna5 |
C |
T |
9: 54,911,923 (GRCm39) |
T241I |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,530,206 (GRCm39) |
S1215G |
probably benign |
Het |
| Ddx21 |
C |
T |
10: 62,427,769 (GRCm39) |
R378Q |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 30,991,846 (GRCm39) |
L3052Q |
probably damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,861,016 (GRCm39) |
T445K |
probably benign |
Het |
| Ercc4 |
T |
C |
16: 12,945,457 (GRCm39) |
W291R |
probably damaging |
Het |
| Flvcr1 |
A |
G |
1: 190,757,939 (GRCm39) |
W76R |
probably damaging |
Het |
| Frmd3 |
A |
G |
4: 74,046,455 (GRCm39) |
I132V |
possibly damaging |
Het |
| Gnb4 |
T |
C |
3: 32,639,324 (GRCm39) |
D323G |
probably damaging |
Het |
| Hnrnpc |
G |
A |
14: 52,312,896 (GRCm39) |
|
probably benign |
Het |
| Hnrnpl |
T |
C |
7: 28,513,505 (GRCm39) |
S202P |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,321,921 (GRCm39) |
F4524L |
probably damaging |
Het |
| Iars2 |
A |
G |
1: 185,023,629 (GRCm39) |
|
probably benign |
Het |
| Ino80d |
A |
G |
1: 63,107,341 (GRCm39) |
|
probably null |
Het |
| Itga8 |
C |
A |
2: 12,137,327 (GRCm39) |
A13S |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 65,020,606 (GRCm39) |
F794S |
probably damaging |
Het |
| Mpp7 |
T |
C |
18: 7,403,269 (GRCm39) |
D347G |
probably benign |
Het |
| Nup93 |
T |
C |
8: 95,032,716 (GRCm39) |
L411P |
probably damaging |
Het |
| Or51f23 |
C |
T |
7: 102,452,846 (GRCm39) |
Q54* |
probably null |
Het |
| Rgs6 |
A |
G |
12: 83,099,324 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
C |
T |
5: 93,100,399 (GRCm39) |
P1473S |
probably benign |
Het |
| Slc12a8 |
A |
G |
16: 33,371,397 (GRCm39) |
I178V |
probably damaging |
Het |
| Slc20a2 |
T |
A |
8: 23,048,999 (GRCm39) |
S219T |
probably benign |
Het |
| Tasor |
C |
T |
14: 27,198,649 (GRCm39) |
T1327I |
probably damaging |
Het |
| Tfeb |
T |
C |
17: 48,097,920 (GRCm39) |
M36T |
probably benign |
Het |
| Trim33 |
G |
A |
3: 103,218,289 (GRCm39) |
|
probably benign |
Het |
| Trnau1ap |
A |
G |
4: 132,049,114 (GRCm39) |
Y30H |
probably damaging |
Het |
| Tulp1 |
T |
C |
17: 28,578,298 (GRCm39) |
K276E |
possibly damaging |
Het |
| Uvssa |
T |
A |
5: 33,549,160 (GRCm39) |
I340N |
probably damaging |
Het |
| Vmn1r32 |
T |
A |
6: 66,529,897 (GRCm39) |
N293I |
possibly damaging |
Het |
| Xpc |
T |
C |
6: 91,481,565 (GRCm39) |
N250S |
probably damaging |
Het |
| Ybey |
T |
C |
10: 76,304,161 (GRCm39) |
I14V |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,673,182 (GRCm39) |
Y1411H |
probably damaging |
Het |
|
| Other mutations in Plin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Plin1
|
APN |
7 |
79,376,408 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation