Incidental Mutation 'IGL02665:Pnpla3'
ID |
302704 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pnpla3
|
Ensembl Gene |
ENSMUSG00000041653 |
Gene Name |
patatin-like phospholipase domain containing 3 |
Synonyms |
Adpn |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02665
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
84052038-84071437 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84055406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 104
(D104G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043826
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045289]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045289
AA Change: D104G
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000043826 Gene: ENSMUSG00000041653 AA Change: D104G
Domain | Start | End | E-Value | Type |
Pfam:Patatin
|
10 |
179 |
4.1e-17 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184924
|
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 is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal energy, glucose, and lipid homeostasis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cenpc1 |
T |
C |
5: 86,194,262 (GRCm39) |
N168S |
probably benign |
Het |
Cep295 |
A |
G |
9: 15,237,928 (GRCm39) |
|
probably benign |
Het |
Defb20 |
A |
G |
2: 152,321,496 (GRCm39) |
Y91C |
probably damaging |
Het |
Dio2 |
T |
C |
12: 90,696,427 (GRCm39) |
D187G |
possibly damaging |
Het |
Fat4 |
G |
A |
3: 39,056,985 (GRCm39) |
R4227Q |
probably benign |
Het |
Fsip2 |
G |
A |
2: 82,823,407 (GRCm39) |
G6380D |
probably damaging |
Het |
Gm5916 |
A |
T |
9: 36,039,962 (GRCm39) |
F9I |
possibly damaging |
Het |
Havcr2 |
T |
A |
11: 46,370,221 (GRCm39) |
V216E |
probably benign |
Het |
Hdac7 |
G |
A |
15: 97,694,838 (GRCm39) |
|
probably benign |
Het |
Itgb8 |
T |
C |
12: 119,130,600 (GRCm39) |
|
probably benign |
Het |
Kyat3 |
A |
G |
3: 142,440,227 (GRCm39) |
|
probably null |
Het |
Lcn3 |
G |
A |
2: 25,656,416 (GRCm39) |
A99T |
possibly damaging |
Het |
Lox |
T |
A |
18: 52,658,316 (GRCm39) |
|
probably benign |
Het |
Lrrc7 |
A |
G |
3: 157,866,742 (GRCm39) |
S1000P |
probably damaging |
Het |
Muc5ac |
T |
C |
7: 141,344,823 (GRCm39) |
F98S |
possibly damaging |
Het |
Nsd1 |
T |
C |
13: 55,443,996 (GRCm39) |
Y1835H |
probably damaging |
Het |
Rab3ip |
T |
A |
10: 116,773,453 (GRCm39) |
Q120L |
probably benign |
Het |
Ranbp6 |
T |
A |
19: 29,790,301 (GRCm39) |
Q17L |
possibly damaging |
Het |
Serpinb9g |
T |
C |
13: 33,679,086 (GRCm39) |
C319R |
possibly damaging |
Het |
Ska3 |
T |
C |
14: 58,059,529 (GRCm39) |
K99E |
probably damaging |
Het |
Srcap |
T |
A |
7: 127,140,075 (GRCm39) |
S1330R |
probably damaging |
Het |
Vmn2r82 |
T |
A |
10: 79,215,205 (GRCm39) |
M396K |
probably damaging |
Het |
Vmn2r87 |
T |
G |
10: 130,333,049 (GRCm39) |
D67A |
probably benign |
Het |
|
Other mutations in Pnpla3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01510:Pnpla3
|
APN |
15 |
84,055,273 (GRCm39) |
splice site |
probably benign |
|
IGL01969:Pnpla3
|
APN |
15 |
84,063,425 (GRCm39) |
missense |
probably benign |
|
IGL03005:Pnpla3
|
APN |
15 |
84,058,469 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03037:Pnpla3
|
APN |
15 |
84,056,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R0136:Pnpla3
|
UTSW |
15 |
84,058,679 (GRCm39) |
critical splice donor site |
probably null |
|
R0666:Pnpla3
|
UTSW |
15 |
84,063,506 (GRCm39) |
missense |
probably benign |
|
R1544:Pnpla3
|
UTSW |
15 |
84,065,247 (GRCm39) |
missense |
probably benign |
0.36 |
R4226:Pnpla3
|
UTSW |
15 |
84,063,391 (GRCm39) |
missense |
probably benign |
0.02 |
R4227:Pnpla3
|
UTSW |
15 |
84,063,391 (GRCm39) |
missense |
probably benign |
0.02 |
R6178:Pnpla3
|
UTSW |
15 |
84,065,132 (GRCm39) |
missense |
probably benign |
0.32 |
R6332:Pnpla3
|
UTSW |
15 |
84,056,983 (GRCm39) |
critical splice donor site |
probably null |
|
R8871:Pnpla3
|
UTSW |
15 |
84,063,509 (GRCm39) |
missense |
probably benign |
0.11 |
R9262:Pnpla3
|
UTSW |
15 |
84,055,363 (GRCm39) |
missense |
probably benign |
0.03 |
X0026:Pnpla3
|
UTSW |
15 |
84,056,929 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Pnpla3
|
UTSW |
15 |
84,070,278 (GRCm39) |
missense |
possibly damaging |
0.69 |
Z1177:Pnpla3
|
UTSW |
15 |
84,055,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |