Incidental Mutation 'R5492:Plin1'
ID |
432118 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plin1
|
Ensembl Gene |
ENSMUSG00000030546 |
Gene Name |
perilipin 1 |
Synonyms |
perilipin B, Plin, Peri, perilipin A, 6030432J05Rik |
MMRRC Submission |
043053-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5492 (G1)
|
Quality Score |
147 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
79370912-79382652 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 79375460 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 151
(R151*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032762]
[ENSMUST00000178257]
[ENSMUST00000205413]
[ENSMUST00000205747]
[ENSMUST00000205915]
|
AlphaFold |
Q8CGN5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032762
AA Change: R230*
|
SMART Domains |
Protein: ENSMUSP00000032762 Gene: ENSMUSG00000030546 AA Change: R230*
Domain | Start | End | E-Value | Type |
Pfam:Perilipin
|
14 |
399 |
7.5e-117 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000178257
AA Change: R230*
|
SMART Domains |
Protein: ENSMUSP00000136996 Gene: ENSMUSG00000030546 AA Change: R230*
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 null
Transcript: ENSMUST00000205915
AA Change: R230*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206083
AA Change: R151*
|
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.5%
- 20x: 89.3%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
C |
T |
1: 11,615,431 (GRCm39) |
R135C |
probably damaging |
Het |
Abcd2 |
A |
G |
15: 91,073,176 (GRCm39) |
Y328H |
probably benign |
Het |
Abcg4 |
T |
C |
9: 44,189,355 (GRCm39) |
T381A |
probably benign |
Het |
Adamts12 |
A |
G |
15: 11,336,384 (GRCm39) |
N1490D |
probably benign |
Het |
Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
Armc8 |
G |
T |
9: 99,409,184 (GRCm39) |
C169* |
probably null |
Het |
Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
Bsn |
G |
A |
9: 107,989,714 (GRCm39) |
P2013S |
probably damaging |
Het |
Cdc16 |
A |
G |
8: 13,813,915 (GRCm39) |
|
probably null |
Het |
Cmtr1 |
T |
A |
17: 29,909,316 (GRCm39) |
F408L |
probably damaging |
Het |
Col4a2 |
C |
T |
8: 11,488,608 (GRCm39) |
R1104W |
possibly damaging |
Het |
Drg2 |
A |
C |
11: 60,352,422 (GRCm39) |
H208P |
probably damaging |
Het |
Frem3 |
A |
T |
8: 81,339,306 (GRCm39) |
D533V |
probably damaging |
Het |
Gm9930 |
T |
A |
10: 9,410,337 (GRCm39) |
|
noncoding transcript |
Het |
Haus5 |
A |
G |
7: 30,358,380 (GRCm39) |
V305A |
possibly damaging |
Het |
Hint3 |
C |
A |
10: 30,494,245 (GRCm39) |
R30L |
probably benign |
Het |
Hltf |
T |
A |
3: 20,152,231 (GRCm39) |
|
probably null |
Het |
Hmcn2 |
T |
A |
2: 31,310,318 (GRCm39) |
L3304Q |
probably benign |
Het |
Hspa2 |
A |
G |
12: 76,451,308 (GRCm39) |
M1V |
probably null |
Het |
Htr5b |
T |
C |
1: 121,455,387 (GRCm39) |
T178A |
possibly damaging |
Het |
Ighv1-11 |
A |
G |
12: 114,576,084 (GRCm39) |
S44P |
probably damaging |
Het |
Larp1b |
C |
T |
3: 40,924,334 (GRCm39) |
R104W |
probably damaging |
Het |
Map3k2 |
A |
G |
18: 32,361,189 (GRCm39) |
T550A |
probably damaging |
Het |
Map4 |
T |
A |
9: 109,881,450 (GRCm39) |
S105T |
possibly damaging |
Het |
Mgam |
T |
C |
6: 40,733,297 (GRCm39) |
C691R |
probably damaging |
Het |
Mms19 |
A |
G |
19: 41,944,270 (GRCm39) |
I310T |
possibly damaging |
Het |
Myh2 |
A |
C |
11: 67,071,701 (GRCm39) |
K506T |
probably benign |
Het |
Ngdn |
T |
C |
14: 55,260,509 (GRCm39) |
V239A |
probably benign |
Het |
Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
Rdh16f2 |
G |
T |
10: 127,702,623 (GRCm39) |
E67* |
probably null |
Het |
Slc25a36 |
A |
C |
9: 96,982,259 (GRCm39) |
C25W |
probably damaging |
Het |
Stk31 |
G |
A |
6: 49,375,177 (GRCm39) |
A49T |
probably damaging |
Het |
Tigar |
T |
A |
6: 127,066,167 (GRCm39) |
T124S |
possibly damaging |
Het |
Tsn |
A |
G |
1: 118,232,443 (GRCm39) |
V144A |
probably damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
Zfp943 |
T |
A |
17: 22,212,056 (GRCm39) |
C381S |
probably damaging |
Het |
Zfyve19 |
A |
T |
2: 119,039,595 (GRCm39) |
|
probably benign |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTTCCAAGACAGAAGGGAC -3'
(R):5'- CCCAAAATGTCACATGTATGAGTG -3'
Sequencing Primer
(F):5'- CTAGGAAACCCACAGAGCAGG -3'
(R):5'- GTTGTCTGAATGCCTGAAAAAGCC -3'
|
Posted On |
2016-10-05 |