Incidental Mutation 'R2964:Pnpla2'
| ID |
255975 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnpla2
|
| Ensembl Gene |
ENSMUSG00000025509 |
| Gene Name |
patatin-like phospholipase domain containing 2 |
| Synonyms |
0610039C21Rik, desnutrin, 1110001C14Rik, Atgl |
| MMRRC Submission |
040520-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.501)
|
| Stock # |
R2964 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
141035111-141040656 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 141038391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 215
(L215F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026583]
[ENSMUST00000053670]
[ENSMUST00000064151]
[ENSMUST00000164016]
[ENSMUST00000164924]
[ENSMUST00000169665]
[ENSMUST00000165194]
[ENSMUST00000170879]
[ENSMUST00000167491]
[ENSMUST00000172215]
[ENSMUST00000165487]
|
| AlphaFold |
Q8BJ56 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026583
|
| SMART Domains |
Protein: ENSMUSP00000026583
Gene: ENSMUSG00000025509
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patatin
|
10 |
69 |
4.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053670
|
| SMART Domains |
Protein: ENSMUSP00000055899
Gene: ENSMUSG00000048200
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
EFh
|
32 |
60 |
2.71e0 |
SMART |
|
EFh
|
66 |
94 |
2.63e0 |
SMART |
|
low complexity region
|
108 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
167 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
346 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064151
AA Change: L249F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065116
Gene: ENSMUSG00000025509
AA Change: L249F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patatin
|
10 |
179 |
1.8e-15 |
PFAM |
|
low complexity region
|
409 |
425 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097947
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163674
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164016
AA Change: L249F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127149
Gene: ENSMUSG00000025509
AA Change: L249F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patatin
|
10 |
179 |
3.3e-15 |
PFAM |
|
low complexity region
|
243 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164924
|
| SMART Domains |
Protein: ENSMUSP00000129632
Gene: ENSMUSG00000025509
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patatin
|
10 |
69 |
4.5e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169665
AA Change: L215F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127983
Gene: ENSMUSG00000025509
AA Change: L215F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patatin
|
10 |
249 |
3.4e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211564
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165194
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170879
|
| SMART Domains |
Protein: ENSMUSP00000129946
Gene: ENSMUSG00000048200
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
EFh
|
32 |
60 |
2.71e0 |
SMART |
|
EFh
|
66 |
94 |
2.63e0 |
SMART |
|
low complexity region
|
108 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
167 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
287 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169723
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167491
|
| SMART Domains |
Protein: ENSMUSP00000127957
Gene: ENSMUSG00000048200
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
EFh
|
32 |
60 |
2.71e0 |
SMART |
|
EFh
|
66 |
94 |
2.63e0 |
SMART |
|
low complexity region
|
108 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
167 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172215
|
| SMART Domains |
Protein: ENSMUSP00000132793
Gene: ENSMUSG00000048200
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
EFh
|
32 |
60 |
2.71e0 |
SMART |
|
EFh
|
66 |
94 |
2.63e0 |
SMART |
|
low complexity region
|
108 |
126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165487
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for this targeted mutation have defects in lipolysis and altered energy metabolism. Triglyceride accumulation in cardiac muscle leads to severe cardiac dysfunction and mortality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
T |
7: 41,275,829 (GRCm39) |
R511* |
probably null |
Het |
| Acox3 |
T |
C |
5: 35,762,611 (GRCm39) |
I495T |
possibly damaging |
Het |
| Acsl3 |
A |
G |
1: 78,672,011 (GRCm39) |
S302G |
probably benign |
Het |
| Ap1s1 |
T |
C |
5: 137,066,357 (GRCm39) |
D148G |
probably damaging |
Het |
| Asprv1 |
T |
A |
6: 86,605,348 (GRCm39) |
C65S |
probably damaging |
Het |
| Cdkal1 |
A |
G |
13: 29,628,018 (GRCm39) |
S39P |
unknown |
Het |
| Chrna2 |
T |
C |
14: 66,386,817 (GRCm39) |
V321A |
possibly damaging |
Het |
| Chsy1 |
G |
A |
7: 65,821,912 (GRCm39) |
G716R |
probably damaging |
Het |
| Col13a1 |
G |
A |
10: 61,797,110 (GRCm39) |
R106W |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,813,154 (GRCm39) |
V2355A |
probably damaging |
Het |
| Cwh43 |
T |
C |
5: 73,565,679 (GRCm39) |
|
probably benign |
Het |
| Dbi |
C |
T |
1: 120,047,846 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,607,460 (GRCm39) |
|
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
| Fstl3 |
T |
C |
10: 79,617,057 (GRCm39) |
V200A |
probably benign |
Het |
| Gpr45 |
G |
A |
1: 43,071,668 (GRCm39) |
D104N |
possibly damaging |
Het |
| Gsdma2 |
T |
C |
11: 98,548,085 (GRCm39) |
S184P |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,386,538 (GRCm39) |
|
probably null |
Het |
| H2-T22 |
A |
G |
17: 36,351,537 (GRCm39) |
L231S |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,155,426 (GRCm39) |
C322R |
probably benign |
Het |
| Ing1 |
T |
A |
8: 11,611,641 (GRCm39) |
S26R |
probably benign |
Het |
| Kif3a |
A |
T |
11: 53,469,757 (GRCm39) |
I123F |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,444,489 (GRCm39) |
E1127G |
probably damaging |
Het |
| Ltf |
G |
T |
9: 110,857,540 (GRCm39) |
C443F |
possibly damaging |
Het |
| Mdc1 |
A |
T |
17: 36,164,529 (GRCm39) |
Q1359L |
possibly damaging |
Het |
| Mdga1 |
A |
T |
17: 30,071,442 (GRCm39) |
I393N |
probably damaging |
Het |
| Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,345,067 (GRCm39) |
V509A |
possibly damaging |
Het |
| Nav2 |
C |
T |
7: 49,206,780 (GRCm39) |
T1535I |
probably damaging |
Het |
| Nlrp4d |
G |
T |
7: 10,112,256 (GRCm39) |
S626* |
probably null |
Het |
| Nup188 |
T |
A |
2: 30,215,358 (GRCm39) |
I732K |
probably damaging |
Het |
| Oprm1 |
T |
C |
10: 6,738,914 (GRCm39) |
S14P |
probably damaging |
Het |
| Or1j12 |
T |
C |
2: 36,342,779 (GRCm39) |
F61L |
probably damaging |
Het |
| Or1l8 |
G |
A |
2: 36,817,419 (GRCm39) |
R236C |
probably benign |
Het |
| Or5b101 |
C |
T |
19: 13,005,412 (GRCm39) |
A94T |
probably benign |
Het |
| Pigr |
G |
A |
1: 130,769,272 (GRCm39) |
V28M |
probably damaging |
Het |
| Pth |
T |
C |
7: 112,985,136 (GRCm39) |
H79R |
probably benign |
Het |
| Rasal1 |
T |
A |
5: 120,809,685 (GRCm39) |
L530Q |
probably damaging |
Het |
| Sdccag8 |
A |
T |
1: 176,775,937 (GRCm39) |
K616M |
possibly damaging |
Het |
| Slc4a5 |
C |
T |
6: 83,273,651 (GRCm39) |
T997I |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Trav7d-4 |
C |
T |
14: 53,007,584 (GRCm39) |
Q26* |
probably null |
Het |
| Zcchc8 |
A |
G |
5: 123,858,930 (GRCm39) |
S22P |
probably benign |
Het |
|
| Other mutations in Pnpla2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02267:Pnpla2
|
APN |
7 |
141,038,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02622:Pnpla2
|
APN |
7 |
141,035,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0334:Pnpla2
|
UTSW |
7 |
141,039,433 (GRCm39) |
splice site |
probably null |
|
|
R1145:Pnpla2
|
UTSW |
7 |
141,035,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1145:Pnpla2
|
UTSW |
7 |
141,035,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1171:Pnpla2
|
UTSW |
7 |
141,038,794 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1435:Pnpla2
|
UTSW |
7 |
141,037,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1774:Pnpla2
|
UTSW |
7 |
141,039,481 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1866:Pnpla2
|
UTSW |
7 |
141,035,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1967:Pnpla2
|
UTSW |
7 |
141,039,345 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2153:Pnpla2
|
UTSW |
7 |
141,039,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2443:Pnpla2
|
UTSW |
7 |
141,037,982 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2923:Pnpla2
|
UTSW |
7 |
141,035,380 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2966:Pnpla2
|
UTSW |
7 |
141,038,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4576:Pnpla2
|
UTSW |
7 |
141,037,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:Pnpla2
|
UTSW |
7 |
141,037,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Pnpla2
|
UTSW |
7 |
141,038,574 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4677:Pnpla2
|
UTSW |
7 |
141,038,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Pnpla2
|
UTSW |
7 |
141,038,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Pnpla2
|
UTSW |
7 |
141,039,204 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5334:Pnpla2
|
UTSW |
7 |
141,039,406 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6331:Pnpla2
|
UTSW |
7 |
141,039,198 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7361:Pnpla2
|
UTSW |
7 |
141,037,344 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7959:Pnpla2
|
UTSW |
7 |
141,037,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8066:Pnpla2
|
UTSW |
7 |
141,039,581 (GRCm39) |
makesense |
probably null |
|
|
R8354:Pnpla2
|
UTSW |
7 |
141,038,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8454:Pnpla2
|
UTSW |
7 |
141,038,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9267:Pnpla2
|
UTSW |
7 |
141,036,503 (GRCm39) |
intron |
probably benign |
|
|
R9342:Pnpla2
|
UTSW |
7 |
141,035,331 (GRCm39) |
nonsense |
probably null |
|
|
X0020:Pnpla2
|
UTSW |
7 |
141,039,573 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCTGACTAAGCCAGCAC -3'
(R):5'- GGCTGCAATTGATCCTCCTC -3'
Sequencing Primer
(F):5'- TCTGAGCCCTGGGATGACAG -3'
(R):5'- TGCCATCAGAGGTTATGG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation