Incidental Mutation 'R2363:Plin1'
| ID |
247220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plin1
|
| Ensembl Gene |
ENSMUSG00000030546 |
| Gene Name |
perilipin 1 |
| Synonyms |
perilipin B, Plin, Peri, perilipin A, 6030432J05Rik |
| MMRRC Submission |
040344-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2363 (G1)
|
| Quality Score |
128 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79370912-79382652 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 79376139 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 null
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 null
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 null
Transcript: ENSMUST00000205915
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206083
|
| Meta Mutation Damage Score |
0.9445 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
98% (51/52) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
T |
C |
2: 103,397,528 (GRCm39) |
C153R |
probably damaging |
Het |
| Adam23 |
A |
G |
1: 63,596,650 (GRCm39) |
|
probably null |
Het |
| Adpgk |
G |
T |
9: 59,222,136 (GRCm39) |
M354I |
probably benign |
Het |
| Atmin |
G |
T |
8: 117,681,653 (GRCm39) |
|
probably null |
Het |
| C1rl |
G |
A |
6: 124,486,069 (GRCm39) |
G480D |
probably benign |
Het |
| C4b |
G |
A |
17: 34,955,032 (GRCm39) |
|
probably benign |
Het |
| Cacnb1 |
G |
A |
11: 97,903,672 (GRCm39) |
T127I |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,230,210 (GRCm39) |
V1626E |
probably benign |
Het |
| Cndp2 |
C |
T |
18: 84,686,694 (GRCm39) |
G443S |
probably damaging |
Het |
| Crb1 |
A |
G |
1: 139,265,016 (GRCm39) |
I134T |
possibly damaging |
Het |
| Dnaaf3 |
T |
C |
7: 4,535,276 (GRCm39) |
|
probably null |
Het |
| Enam |
C |
T |
5: 88,651,008 (GRCm39) |
P764L |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fbln1 |
G |
A |
15: 85,111,341 (GRCm39) |
|
probably null |
Het |
| Flnb |
A |
G |
14: 7,945,950 (GRCm38) |
I2452V |
possibly damaging |
Het |
| Fmo3 |
A |
T |
1: 162,781,884 (GRCm39) |
W490R |
probably damaging |
Het |
| Gabrb1 |
C |
T |
5: 72,026,916 (GRCm39) |
R106* |
probably null |
Het |
| Galnt4 |
C |
T |
10: 98,944,923 (GRCm39) |
T216I |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Golph3 |
A |
G |
15: 12,349,649 (GRCm39) |
D223G |
probably benign |
Het |
| Herc4 |
T |
A |
10: 63,151,473 (GRCm39) |
F905I |
possibly damaging |
Het |
| Il23r |
T |
C |
6: 67,429,401 (GRCm39) |
T314A |
probably benign |
Het |
| Lrrtm4 |
T |
C |
6: 79,998,857 (GRCm39) |
W90R |
probably damaging |
Het |
| Maml2 |
C |
T |
9: 13,532,541 (GRCm39) |
T585I |
probably damaging |
Het |
| Mpp3 |
G |
A |
11: 101,911,312 (GRCm39) |
A170V |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,452,928 (GRCm39) |
K44N |
possibly damaging |
Het |
| Or10aa3 |
C |
T |
1: 173,878,814 (GRCm39) |
R292C |
probably damaging |
Het |
| Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
| Or1e17 |
A |
G |
11: 73,831,182 (GRCm39) |
T37A |
possibly damaging |
Het |
| Or4k51 |
C |
T |
2: 111,585,139 (GRCm39) |
P182S |
probably damaging |
Het |
| Or51b6 |
T |
A |
7: 103,556,267 (GRCm39) |
M207K |
probably benign |
Het |
| Or6f2 |
A |
G |
7: 139,756,878 (GRCm39) |
T282A |
probably damaging |
Het |
| Or7e165 |
T |
G |
9: 19,694,892 (GRCm39) |
I154M |
probably benign |
Het |
| Or8c10 |
T |
C |
9: 38,279,394 (GRCm39) |
I174T |
probably damaging |
Het |
| Pak1 |
T |
A |
7: 97,535,521 (GRCm39) |
V204E |
probably benign |
Het |
| Pcdhb10 |
T |
A |
18: 37,547,190 (GRCm39) |
C755* |
probably null |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,725 (GRCm39) |
Y417C |
probably damaging |
Het |
| Pkd1l3 |
G |
T |
8: 110,355,341 (GRCm39) |
W723L |
probably benign |
Het |
| Polr3a |
A |
T |
14: 24,525,960 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
T |
10: 58,314,758 (GRCm39) |
K1826I |
possibly damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,626,608 (GRCm39) |
I970V |
possibly damaging |
Het |
| Rdx |
C |
A |
9: 51,980,173 (GRCm39) |
F255L |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,267,447 (GRCm39) |
H1011L |
possibly damaging |
Het |
| Serpina6 |
T |
C |
12: 103,614,868 (GRCm39) |
D326G |
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,966 (GRCm39) |
E909G |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,047,697 (GRCm39) |
V1015D |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,920 (GRCm39) |
Y629N |
probably damaging |
Het |
| Triml1 |
A |
G |
8: 43,594,408 (GRCm39) |
S8P |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCCCCACTGGTGATAGC -3'
(R):5'- TTGCAAGCACCTCTGACAAG -3'
Sequencing Primer
(F):5'- TGGTGATAGCCAACAACAAGCTC -3'
(R):5'- CCTCTGACAAGGTTCTGGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation