Incidental Mutation 'R5563:Plin2'
| ID |
436696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plin2
|
| Ensembl Gene |
ENSMUSG00000028494 |
| Gene Name |
perilipin 2 |
| Synonyms |
Adrp, ADPH, adipophilin, Adfp |
| MMRRC Submission |
043120-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R5563 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
86566623-86588297 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86580341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 140
(K140R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000466]
[ENSMUST00000140382]
[ENSMUST00000147097]
[ENSMUST00000149700]
|
| AlphaFold |
P43883 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000466
AA Change: K140R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000000466
Gene: ENSMUSG00000028494
AA Change: K140R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Perilipin
|
6 |
393 |
5.3e-158 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138605
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140382
AA Change: K140R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000123456
Gene: ENSMUSG00000028494
AA Change: K140R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Perilipin
|
1 |
196 |
5.2e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147097
AA Change: K51R
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000119063
Gene: ENSMUSG00000028494
AA Change: K51R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Perilipin
|
1 |
157 |
3.1e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149700
AA Change: K140R
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000123333
Gene: ENSMUSG00000028494
AA Change: K140R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Perilipin
|
1 |
196 |
5.2e-83 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154999
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| 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 belongs to the perilipin family, members of which coat intracellular lipid storage droplets. This protein is associated with the lipid globule surface membrane material, and maybe involved in development and maintenance of adipose tissue. However, it is not restricted to adipocytes as previously thought, but is found in a wide range of cultured cell lines, including fibroblasts, endothelial and epithelial cells, and tissues, such as lactating mammary gland, adrenal cortex, Sertoli and Leydig cells, and hepatocytes in alcoholic liver cirrhosis, suggesting that it may serve as a marker of lipid accumulation in diverse cell types and diseases. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygotes for null mutations are resistant to diet-induced obesity and hepatic steatosis and may exhibit altered milk composition, vision abnormalities, or small sebaceous glands. Male mice homozygous for a gene trap allele are infertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
C |
T |
5: 100,960,040 (GRCm39) |
R104H |
possibly damaging |
Het |
| Actn3 |
T |
C |
19: 4,922,344 (GRCm39) |
H101R |
probably damaging |
Het |
| Akp3 |
T |
C |
1: 87,053,646 (GRCm39) |
S174P |
probably damaging |
Het |
| Aldh5a1 |
C |
A |
13: 25,102,609 (GRCm39) |
A285S |
possibly damaging |
Het |
| Atp7b |
G |
A |
8: 22,518,730 (GRCm39) |
P36L |
possibly damaging |
Het |
| Cdh20 |
C |
T |
1: 104,875,082 (GRCm39) |
P288L |
probably benign |
Het |
| Fktn |
T |
A |
4: 53,761,327 (GRCm39) |
N481K |
probably damaging |
Het |
| Fmo5 |
C |
A |
3: 97,546,207 (GRCm39) |
H173Q |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,395,688 (GRCm39) |
R1021G |
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,525,581 (GRCm39) |
F337L |
probably benign |
Het |
| Ighv3-1 |
T |
A |
12: 113,928,206 (GRCm39) |
Y51F |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,673,944 (GRCm39) |
K569E |
possibly damaging |
Het |
| Mars1 |
T |
C |
10: 127,144,530 (GRCm39) |
Q170R |
probably benign |
Het |
| Mfsd4b2 |
C |
T |
10: 39,798,038 (GRCm39) |
E106K |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,914,185 (GRCm39) |
D285G |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,163,788 (GRCm39) |
|
probably null |
Het |
| Npat |
A |
G |
9: 53,474,427 (GRCm39) |
I740V |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,535,956 (GRCm39) |
|
probably null |
Het |
| Prdm2 |
T |
C |
4: 142,861,200 (GRCm39) |
T697A |
probably benign |
Het |
| Prkaa1 |
A |
G |
15: 5,199,437 (GRCm39) |
E179G |
probably damaging |
Het |
| Prtg |
G |
A |
9: 72,764,180 (GRCm39) |
R551H |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,284,897 (GRCm39) |
R254G |
probably benign |
Het |
| Rhpn2 |
T |
A |
7: 35,070,652 (GRCm39) |
L194H |
probably damaging |
Het |
| Sp7 |
T |
C |
15: 102,267,755 (GRCm39) |
D17G |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,188,712 (GRCm39) |
V128A |
possibly damaging |
Het |
| Uba5 |
G |
T |
9: 103,926,446 (GRCm39) |
T372K |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,321,846 (GRCm39) |
I284L |
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,871,283 (GRCm39) |
T667A |
probably damaging |
Het |
|
| Other mutations in Plin2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00826:Plin2
|
APN |
4 |
86,582,683 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02501:Plin2
|
APN |
4 |
86,582,723 (GRCm39) |
nonsense |
probably null |
|
|
IGL02551:Plin2
|
APN |
4 |
86,576,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03294:Plin2
|
APN |
4 |
86,580,315 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1484:Plin2
|
UTSW |
4 |
86,575,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2165:Plin2
|
UTSW |
4 |
86,586,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Plin2
|
UTSW |
4 |
86,586,915 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R2870:Plin2
|
UTSW |
4 |
86,586,915 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R2871:Plin2
|
UTSW |
4 |
86,586,915 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R2871:Plin2
|
UTSW |
4 |
86,586,915 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R2872:Plin2
|
UTSW |
4 |
86,586,915 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R2872:Plin2
|
UTSW |
4 |
86,586,915 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R2873:Plin2
|
UTSW |
4 |
86,586,915 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R3125:Plin2
|
UTSW |
4 |
86,575,381 (GRCm39) |
nonsense |
probably null |
|
|
R4948:Plin2
|
UTSW |
4 |
86,580,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5189:Plin2
|
UTSW |
4 |
86,575,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6229:Plin2
|
UTSW |
4 |
86,586,903 (GRCm39) |
missense |
probably benign |
|
|
R6258:Plin2
|
UTSW |
4 |
86,575,526 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6260:Plin2
|
UTSW |
4 |
86,575,526 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6391:Plin2
|
UTSW |
4 |
86,580,236 (GRCm39) |
missense |
probably null |
0.99 |
|
R6470:Plin2
|
UTSW |
4 |
86,586,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6493:Plin2
|
UTSW |
4 |
86,580,224 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6562:Plin2
|
UTSW |
4 |
86,576,832 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6706:Plin2
|
UTSW |
4 |
86,578,357 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7310:Plin2
|
UTSW |
4 |
86,586,628 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8057:Plin2
|
UTSW |
4 |
86,575,638 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8171:Plin2
|
UTSW |
4 |
86,575,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9003:Plin2
|
UTSW |
4 |
86,580,324 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9041:Plin2
|
UTSW |
4 |
86,578,504 (GRCm39) |
missense |
probably benign |
|
|
R9789:Plin2
|
UTSW |
4 |
86,576,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9800:Plin2
|
UTSW |
4 |
86,586,742 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
U24488:Plin2
|
UTSW |
4 |
86,580,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTACCCAGCTCCTCCTGAGTG -3'
(R):5'- TGAAAGAGCATGCTCAGTCC -3'
Sequencing Primer
(F):5'- TCCTCCTGAGTGAGAGGGAAGTAC -3'
(R):5'- AAGAGCATGCTCAGTCCATGTTG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation