Incidental Mutation 'R5115:Plin1'
| ID |
394149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plin1
|
| Ensembl Gene |
ENSMUSG00000030546 |
| Gene Name |
perilipin 1 |
| Synonyms |
perilipin B, Plin, Peri, perilipin A, 6030432J05Rik |
| MMRRC Submission |
042703-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5115 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79370912-79382652 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
AGGCCACCAGGGGGTGGGC to AGGC
at 79379692 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: ENSMUST00000205747
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205915
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206083
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.2%
|
| Validation Efficiency |
100% (47/47) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
C |
T |
11: 54,231,324 (GRCm39) |
|
probably null |
Het |
| Asic1 |
C |
T |
15: 99,569,933 (GRCm39) |
L85F |
probably damaging |
Het |
| Atic |
G |
A |
1: 71,596,434 (GRCm39) |
|
probably null |
Het |
| Atp1b2 |
T |
C |
11: 69,494,299 (GRCm39) |
T65A |
probably damaging |
Het |
| C2cd6 |
T |
A |
1: 59,090,420 (GRCm39) |
I446L |
probably benign |
Het |
| Cep83 |
A |
G |
10: 94,604,751 (GRCm39) |
H488R |
probably benign |
Het |
| Cwc15 |
A |
G |
9: 14,419,192 (GRCm39) |
I163V |
probably benign |
Het |
| Cyp11b2 |
A |
T |
15: 74,727,277 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
G |
11: 55,187,159 (GRCm39) |
V1229A |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,174,303 (GRCm39) |
D1851G |
probably damaging |
Het |
| Golga7 |
A |
T |
8: 23,735,986 (GRCm39) |
|
probably null |
Het |
| Gsdmc2 |
A |
T |
15: 63,699,617 (GRCm39) |
H270Q |
probably benign |
Het |
| Kdm4a |
G |
T |
4: 118,019,778 (GRCm39) |
P326Q |
possibly damaging |
Het |
| Kng1 |
G |
A |
16: 22,888,032 (GRCm39) |
R209H |
possibly damaging |
Het |
| Mfn1 |
T |
C |
3: 32,618,456 (GRCm39) |
|
probably null |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Nlrc5 |
G |
A |
8: 95,203,447 (GRCm39) |
V516I |
possibly damaging |
Het |
| Nrbp1 |
T |
G |
5: 31,401,059 (GRCm39) |
Y96* |
probably null |
Het |
| Papola |
T |
C |
12: 105,793,219 (GRCm39) |
V513A |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,263,276 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,608,444 (GRCm39) |
Q3082R |
probably benign |
Het |
| Rbfox1 |
A |
G |
16: 7,227,636 (GRCm39) |
S405G |
probably damaging |
Het |
| Recql |
T |
C |
6: 142,304,285 (GRCm39) |
|
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,113,651 (GRCm39) |
E365G |
probably damaging |
Het |
| Slc17a5 |
A |
G |
9: 78,484,394 (GRCm39) |
V122A |
probably benign |
Het |
| Sprr2b |
G |
T |
3: 92,224,862 (GRCm39) |
C36F |
unknown |
Het |
| Stk36 |
T |
C |
1: 74,674,986 (GRCm39) |
I1307T |
probably damaging |
Het |
| Tmc6 |
G |
A |
11: 117,666,014 (GRCm39) |
T300I |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,831,510 (GRCm39) |
|
probably benign |
Het |
| Vmn1r71 |
T |
A |
7: 10,481,885 (GRCm39) |
M202L |
probably benign |
Het |
| Zfp276 |
A |
G |
8: 123,991,716 (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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCCTAAGATACCCCAGGC -3'
(R):5'- TAATAGCTCGTGAGAAGGTTGAGTG -3'
Sequencing Primer
(F):5'- CTGTGAGACGATCAGACAGACC -3'
(R):5'- GGGGGTGGAAGCATCTGATTC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation