Incidental Mutation 'R4226:Pnpla3'
| ID |
320055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnpla3
|
| Ensembl Gene |
ENSMUSG00000041653 |
| Gene Name |
patatin-like phospholipase domain containing 3 |
| Synonyms |
Adpn |
| MMRRC Submission |
041046-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4226 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
84052038-84071437 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 84063391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 256
(N256K)
|
| 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: N256K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000043826
Gene: ENSMUSG00000041653
AA Change: N256K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patatin
|
10 |
179 |
4.1e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229976
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231124
|
| Meta Mutation Damage Score |
0.0739 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
A |
5: 146,441,690 (GRCm39) |
V279E |
possibly damaging |
Het |
| Ache |
T |
C |
5: 137,289,152 (GRCm39) |
V286A |
possibly damaging |
Het |
| Amotl1 |
T |
C |
9: 14,504,974 (GRCm39) |
N115S |
probably benign |
Het |
| Aoah |
A |
T |
13: 21,163,696 (GRCm39) |
Y333F |
possibly damaging |
Het |
| Ap4m1 |
A |
T |
5: 138,171,079 (GRCm39) |
R74* |
probably null |
Het |
| Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,926,835 (GRCm39) |
|
probably null |
Het |
| Capn11 |
A |
G |
17: 45,953,392 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
T |
A |
5: 21,527,756 (GRCm39) |
I187L |
probably benign |
Het |
| Cfh |
A |
T |
1: 140,036,664 (GRCm39) |
C360S |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,050,490 (GRCm39) |
N2249D |
probably damaging |
Het |
| Cyb5r4 |
T |
G |
9: 86,939,282 (GRCm39) |
I355S |
probably damaging |
Het |
| Dnm1l |
A |
T |
16: 16,132,251 (GRCm39) |
H653Q |
possibly damaging |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Gm16503 |
C |
T |
4: 147,625,725 (GRCm39) |
S73L |
unknown |
Het |
| Hnrnpll |
A |
T |
17: 80,357,234 (GRCm39) |
|
probably null |
Het |
| Igf1r |
T |
A |
7: 67,844,826 (GRCm39) |
Y866* |
probably null |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Mc1r |
A |
G |
8: 124,134,595 (GRCm39) |
N116S |
possibly damaging |
Het |
| Micu2 |
T |
C |
14: 58,169,742 (GRCm39) |
K203E |
possibly damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,409,387 (GRCm39) |
W36* |
probably null |
Het |
| Nsd1 |
C |
T |
13: 55,408,214 (GRCm39) |
T1286I |
probably damaging |
Het |
| Or2a56 |
A |
G |
6: 42,932,689 (GRCm39) |
T86A |
probably benign |
Het |
| Or51l14 |
T |
C |
7: 103,100,784 (GRCm39) |
M80T |
probably benign |
Het |
| Polh |
A |
G |
17: 46,483,520 (GRCm39) |
S582P |
probably benign |
Het |
| Rnaseh2a |
G |
A |
8: 85,686,702 (GRCm39) |
T149I |
possibly damaging |
Het |
| Ryr1 |
A |
C |
7: 28,761,576 (GRCm39) |
Y3190* |
probably null |
Het |
| Sec31b |
T |
A |
19: 44,520,149 (GRCm39) |
M212L |
probably benign |
Het |
| Smc4 |
A |
G |
3: 68,938,800 (GRCm39) |
E950G |
probably benign |
Het |
| Tlr1 |
A |
T |
5: 65,083,060 (GRCm39) |
S506T |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmem236 |
G |
T |
2: 14,179,437 (GRCm39) |
E13* |
probably null |
Het |
| Tmprss6 |
C |
T |
15: 78,330,899 (GRCm39) |
V43M |
probably damaging |
Het |
| Vegfc |
A |
G |
8: 54,612,445 (GRCm39) |
Y156C |
probably damaging |
Het |
| Vmn1r39 |
T |
C |
6: 66,781,703 (GRCm39) |
H205R |
possibly damaging |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,422,240 (GRCm39) |
N2793D |
unknown |
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 |
|
|
IGL02665:Pnpla3
|
APN |
15 |
84,055,406 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGCTGAGGAAGGCCAAG -3'
(R):5'- TACATGACAAACAGCAGGTGGC -3'
Sequencing Primer
(F):5'- TCGTTCAGAGTCGCACAG -3'
(R):5'- TGGCATGCCCTGAGCTCATC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation