Incidental Mutation 'R4714:Pnpla8'
| ID |
353460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnpla8
|
| Ensembl Gene |
ENSMUSG00000036257 |
| Gene Name |
patatin-like phospholipase domain containing 8 |
| Synonyms |
1200006O19Rik, iPLA2 gamma |
| MMRRC Submission |
041956-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R4714 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
44315916-44362718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44342696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 484
(F484S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043082]
[ENSMUST00000122902]
[ENSMUST00000143771]
[ENSMUST00000156082]
|
| AlphaFold |
Q8K1N1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043082
AA Change: F484S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043286
Gene: ENSMUSG00000036257
AA Change: F484S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
332 |
430 |
2e-3 |
SMART |
|
Pfam:Patatin
|
439 |
634 |
1.4e-26 |
PFAM |
|
low complexity region
|
664 |
675 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122902
AA Change: F266S
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120877
Gene: ENSMUSG00000036257
AA Change: F266S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
114 |
212 |
2e-3 |
SMART |
|
Pfam:Patatin
|
221 |
416 |
3e-27 |
PFAM |
|
low complexity region
|
446 |
457 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143771
AA Change: F484S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122560
Gene: ENSMUSG00000036257
AA Change: F484S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
332 |
430 |
3e-3 |
SMART |
|
Pfam:Patatin
|
439 |
658 |
7.3e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156082
|
| SMART Domains |
Protein: ENSMUSP00000116922
Gene: ENSMUSG00000036257
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patatin
|
5 |
84 |
2.4e-9 |
PFAM |
|
low complexity region
|
114 |
125 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218803
AA Change: F22S
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit some female-specific embryonic lethality, reduced body weight and temperature, cold intolerance, decreased exercise tolerance and decreased mitochondria function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 4930486L24Rik |
A |
G |
13: 60,992,132 (GRCm39) |
V298A |
probably damaging |
Het |
| Abca12 |
A |
G |
1: 71,360,609 (GRCm39) |
V534A |
probably benign |
Het |
| Abcb4 |
A |
G |
5: 8,980,906 (GRCm39) |
|
probably null |
Het |
| Adam30 |
A |
T |
3: 98,070,170 (GRCm39) |
S668C |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,556,252 (GRCm39) |
V196D |
probably damaging |
Het |
| Atp11b |
G |
A |
3: 35,888,543 (GRCm39) |
V738I |
probably benign |
Het |
| Cast |
C |
T |
13: 74,946,834 (GRCm39) |
V27I |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,651,780 (GRCm39) |
I3090T |
probably benign |
Het |
| Cgn |
C |
A |
3: 94,686,748 (GRCm39) |
G185W |
probably damaging |
Het |
| Champ1 |
T |
C |
8: 13,928,063 (GRCm39) |
Y74H |
probably damaging |
Het |
| Cpm |
T |
C |
10: 117,511,890 (GRCm39) |
I278T |
probably damaging |
Het |
| Dcaf15 |
T |
C |
8: 84,828,845 (GRCm39) |
T141A |
probably benign |
Het |
| Dcun1d1 |
C |
T |
3: 35,949,819 (GRCm39) |
V244M |
probably damaging |
Het |
| Defb8 |
A |
G |
8: 19,497,575 (GRCm39) |
L12P |
probably damaging |
Het |
| Dlg1 |
A |
T |
16: 31,609,079 (GRCm39) |
I225F |
probably damaging |
Het |
| Dync2h1 |
G |
T |
9: 7,118,932 (GRCm39) |
H2178N |
possibly damaging |
Het |
| Enam |
A |
G |
5: 88,651,395 (GRCm39) |
E893G |
probably damaging |
Het |
| Flt4 |
T |
A |
11: 49,518,034 (GRCm39) |
L358Q |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,284,785 (GRCm39) |
Q1202R |
probably benign |
Het |
| Ghr |
T |
A |
15: 3,349,879 (GRCm39) |
D433V |
possibly damaging |
Het |
| Grm7 |
G |
A |
6: 111,057,383 (GRCm39) |
D328N |
possibly damaging |
Het |
| Haus4 |
T |
C |
14: 54,779,577 (GRCm39) |
D349G |
probably benign |
Het |
| Helz |
T |
C |
11: 107,517,542 (GRCm39) |
|
probably null |
Het |
| Hif3a |
A |
G |
7: 16,790,196 (GRCm39) |
L69P |
probably damaging |
Het |
| Ifit1 |
A |
G |
19: 34,625,563 (GRCm39) |
E233G |
probably damaging |
Het |
| Kcnc2 |
T |
C |
10: 112,291,733 (GRCm39) |
F307S |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 41,000,771 (GRCm39) |
V2151E |
possibly damaging |
Het |
| Lrp5 |
T |
C |
19: 3,709,454 (GRCm39) |
N92S |
probably damaging |
Het |
| Metrnl |
C |
T |
11: 121,606,839 (GRCm39) |
A216V |
probably damaging |
Het |
| Msh2 |
A |
G |
17: 88,026,217 (GRCm39) |
T732A |
probably damaging |
Het |
| Necab2 |
T |
C |
8: 120,194,334 (GRCm39) |
L270P |
probably damaging |
Het |
| Noc3l |
T |
C |
19: 38,804,157 (GRCm39) |
K74E |
probably benign |
Het |
| Oas2 |
A |
T |
5: 120,871,537 (GRCm39) |
L702Q |
probably damaging |
Het |
| Or1j1 |
A |
T |
2: 36,703,047 (GRCm39) |
I19N |
probably benign |
Het |
| Or2n1d |
A |
C |
17: 38,646,731 (GRCm39) |
I228L |
possibly damaging |
Het |
| Or4k1 |
A |
G |
14: 50,377,436 (GRCm39) |
I220T |
possibly damaging |
Het |
| Or4k6 |
C |
A |
14: 50,475,824 (GRCm39) |
V173L |
possibly damaging |
Het |
| Or6c216 |
A |
T |
10: 129,678,814 (GRCm39) |
N32K |
probably damaging |
Het |
| Pax6 |
A |
G |
2: 105,525,745 (GRCm39) |
H376R |
possibly damaging |
Het |
| Pnkd |
C |
T |
1: 74,390,941 (GRCm39) |
R376C |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,782,573 (GRCm39) |
H909Q |
probably benign |
Het |
| Rasip1 |
CGG |
CGGG |
7: 45,281,820 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
A |
T |
5: 66,182,395 (GRCm39) |
Y413N |
probably damaging |
Het |
| Rnf123 |
A |
G |
9: 107,929,638 (GRCm39) |
|
probably null |
Het |
| Ruvbl1 |
T |
A |
6: 88,461,412 (GRCm39) |
M259K |
possibly damaging |
Het |
| Sohlh2 |
A |
G |
3: 55,097,950 (GRCm39) |
H134R |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,248,330 (GRCm39) |
D447G |
possibly damaging |
Het |
| Tank |
C |
T |
2: 61,480,573 (GRCm39) |
P370S |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,544,131 (GRCm39) |
E2049G |
probably damaging |
Het |
| Tnik |
A |
G |
3: 28,648,226 (GRCm39) |
H426R |
possibly damaging |
Het |
| Trpm6 |
C |
A |
19: 18,831,564 (GRCm39) |
S1476R |
possibly damaging |
Het |
| Trpm7 |
G |
A |
2: 126,682,703 (GRCm39) |
Q389* |
probably null |
Het |
| Ttc28 |
G |
A |
5: 111,433,095 (GRCm39) |
R2043Q |
possibly damaging |
Het |
| Tymp |
A |
G |
15: 89,260,510 (GRCm39) |
S103P |
probably damaging |
Het |
| Usp40 |
C |
T |
1: 87,894,901 (GRCm39) |
|
probably null |
Het |
| Vmn1r202 |
T |
A |
13: 22,685,977 (GRCm39) |
N147Y |
probably damaging |
Het |
| Vmn2r89 |
T |
C |
14: 51,689,688 (GRCm39) |
S64P |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,727,220 (GRCm39) |
D229E |
probably benign |
Het |
| Vps52 |
A |
G |
17: 34,180,153 (GRCm39) |
I354V |
probably benign |
Het |
| Zbtb8os |
T |
C |
4: 129,235,557 (GRCm39) |
F90L |
probably damaging |
Het |
| Zfp36l1 |
T |
C |
12: 80,157,270 (GRCm39) |
D37G |
possibly damaging |
Het |
| Zfp467 |
A |
G |
6: 48,404,751 (GRCm39) |
S109P |
unknown |
Het |
| Zzef1 |
T |
A |
11: 72,728,038 (GRCm39) |
C535S |
probably damaging |
Het |
|
| Other mutations in Pnpla8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Pnpla8
|
APN |
12 |
44,329,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01477:Pnpla8
|
APN |
12 |
44,330,441 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01963:Pnpla8
|
APN |
12 |
44,342,816 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02877:Pnpla8
|
APN |
12 |
44,330,248 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03085:Pnpla8
|
APN |
12 |
44,358,305 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03335:Pnpla8
|
APN |
12 |
44,329,947 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03396:Pnpla8
|
APN |
12 |
44,330,309 (GRCm39) |
missense |
probably benign |
0.01 |
|
Bantamweight
|
UTSW |
12 |
44,351,730 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
featherweight
|
UTSW |
12 |
44,342,753 (GRCm39) |
nonsense |
probably null |
|
|
freerange
|
UTSW |
12 |
44,330,030 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Goldengloves
|
UTSW |
12 |
44,335,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Pnpla8
|
UTSW |
12 |
44,329,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Pnpla8
|
UTSW |
12 |
44,329,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0172:Pnpla8
|
UTSW |
12 |
44,358,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0524:Pnpla8
|
UTSW |
12 |
44,330,401 (GRCm39) |
nonsense |
probably null |
|
|
R0608:Pnpla8
|
UTSW |
12 |
44,330,246 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0811:Pnpla8
|
UTSW |
12 |
44,330,188 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0812:Pnpla8
|
UTSW |
12 |
44,330,188 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1120:Pnpla8
|
UTSW |
12 |
44,351,730 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2127:Pnpla8
|
UTSW |
12 |
44,354,840 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2392:Pnpla8
|
UTSW |
12 |
44,358,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4411:Pnpla8
|
UTSW |
12 |
44,330,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5446:Pnpla8
|
UTSW |
12 |
44,337,368 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5585:Pnpla8
|
UTSW |
12 |
44,329,847 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5752:Pnpla8
|
UTSW |
12 |
44,329,670 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5914:Pnpla8
|
UTSW |
12 |
44,342,753 (GRCm39) |
nonsense |
probably null |
|
|
R6125:Pnpla8
|
UTSW |
12 |
44,354,772 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6135:Pnpla8
|
UTSW |
12 |
44,329,670 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6224:Pnpla8
|
UTSW |
12 |
44,329,811 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6905:Pnpla8
|
UTSW |
12 |
44,330,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6933:Pnpla8
|
UTSW |
12 |
44,330,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6983:Pnpla8
|
UTSW |
12 |
44,330,030 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7334:Pnpla8
|
UTSW |
12 |
44,358,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7529:Pnpla8
|
UTSW |
12 |
44,329,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7996:Pnpla8
|
UTSW |
12 |
44,329,766 (GRCm39) |
nonsense |
probably null |
|
|
R8263:Pnpla8
|
UTSW |
12 |
44,342,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8401:Pnpla8
|
UTSW |
12 |
44,335,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8482:Pnpla8
|
UTSW |
12 |
44,330,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8531:Pnpla8
|
UTSW |
12 |
44,358,368 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8735:Pnpla8
|
UTSW |
12 |
44,330,222 (GRCm39) |
missense |
probably benign |
|
|
R9433:Pnpla8
|
UTSW |
12 |
44,330,305 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9729:Pnpla8
|
UTSW |
12 |
44,330,657 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1176:Pnpla8
|
UTSW |
12 |
44,342,773 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTTTATATGCCCCAGTACAGG -3'
(R):5'- AAGGGATTGAAACTCACTTGAGGATC -3'
Sequencing Primer
(F):5'- TAGCATTGCAAATGTAAACGAGC -3'
(R):5'- GAAACTCACTTGAGGATCTTTTCC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation