Incidental Mutation 'IGL00235:Pnpla8'
ID |
2192 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pnpla8
|
Ensembl Gene |
ENSMUSG00000036257 |
Gene Name |
patatin-like phospholipase domain containing 8 |
Synonyms |
1200006O19Rik, iPLA2 gamma |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
IGL00235
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
44315916-44362718 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44329852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 135
(R135G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122560
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043082]
[ENSMUST00000122902]
[ENSMUST00000125757]
[ENSMUST00000143771]
[ENSMUST00000218954]
|
AlphaFold |
Q8K1N1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043082
AA Change: R135G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000043286 Gene: ENSMUSG00000036257 AA Change: R135G
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 |
probably benign
Transcript: ENSMUST00000122902
|
SMART Domains |
Protein: ENSMUSP00000120877 Gene: ENSMUSG00000036257
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 benign
Transcript: ENSMUST00000125757
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143771
AA Change: R135G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000122560 Gene: ENSMUSG00000036257 AA Change: R135G
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: ENSMUST00000218954
|
Coding Region Coverage |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
G |
A |
16: 35,073,583 (GRCm39) |
E454K |
possibly damaging |
Het |
Agl |
T |
C |
3: 116,565,132 (GRCm39) |
H1039R |
probably benign |
Het |
Akap3 |
T |
C |
6: 126,842,694 (GRCm39) |
F438L |
probably benign |
Het |
Casp1 |
A |
T |
9: 5,299,872 (GRCm39) |
|
probably benign |
Het |
Cnih2 |
G |
T |
19: 5,148,301 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
G |
A |
7: 105,407,950 (GRCm39) |
R1961C |
probably damaging |
Het |
Defb21 |
G |
A |
2: 152,416,712 (GRCm39) |
V63I |
probably benign |
Het |
Elovl6 |
T |
A |
3: 129,422,025 (GRCm39) |
N105K |
probably benign |
Het |
Fam83e |
A |
T |
7: 45,376,493 (GRCm39) |
E402V |
probably benign |
Het |
Fat4 |
T |
A |
3: 39,036,398 (GRCm39) |
I3350N |
probably damaging |
Het |
Gmpr2 |
C |
A |
14: 55,913,171 (GRCm39) |
F149L |
probably damaging |
Het |
Gucy1b2 |
C |
A |
14: 62,643,694 (GRCm39) |
V636F |
probably damaging |
Het |
Hapln1 |
A |
C |
13: 89,756,261 (GRCm39) |
Y355S |
probably benign |
Het |
Hoxb13 |
G |
T |
11: 96,085,468 (GRCm39) |
C67F |
possibly damaging |
Het |
Hspa12b |
T |
A |
2: 130,976,040 (GRCm39) |
I14N |
probably damaging |
Het |
Ighe |
C |
A |
12: 113,235,135 (GRCm39) |
V342L |
unknown |
Het |
Ighv1-49 |
A |
T |
12: 115,019,076 (GRCm39) |
S21T |
possibly damaging |
Het |
Klhl17 |
A |
G |
4: 156,318,319 (GRCm39) |
I101T |
possibly damaging |
Het |
Lrrd1 |
T |
G |
5: 3,900,573 (GRCm39) |
L293V |
possibly damaging |
Het |
Lyrm4 |
T |
A |
13: 36,276,865 (GRCm39) |
K44M |
probably damaging |
Het |
Med15 |
G |
T |
16: 17,498,590 (GRCm39) |
P101T |
probably damaging |
Het |
Mgat4c |
A |
T |
10: 102,224,581 (GRCm39) |
H265L |
probably damaging |
Het |
Mme |
T |
A |
3: 63,247,465 (GRCm39) |
I250N |
possibly damaging |
Het |
Mxra8 |
C |
A |
4: 155,927,020 (GRCm39) |
T318N |
probably benign |
Het |
Nlrp9b |
G |
A |
7: 19,757,203 (GRCm39) |
V147I |
probably benign |
Het |
Npepl1 |
G |
T |
2: 173,962,341 (GRCm39) |
V336L |
probably damaging |
Het |
Or1e23 |
G |
A |
11: 73,407,236 (GRCm39) |
S263L |
possibly damaging |
Het |
Pank2 |
T |
C |
2: 131,116,089 (GRCm39) |
I169T |
possibly damaging |
Het |
Pgap6 |
T |
C |
17: 26,336,493 (GRCm39) |
S204P |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,419,415 (GRCm39) |
H2960L |
probably damaging |
Het |
Prdm8 |
T |
G |
5: 98,331,202 (GRCm39) |
V18G |
probably damaging |
Het |
Rhox7b |
G |
T |
X: 36,978,539 (GRCm39) |
P231T |
probably damaging |
Het |
Rnf121 |
A |
T |
7: 101,714,322 (GRCm39) |
|
probably benign |
Het |
Skap1 |
T |
C |
11: 96,380,736 (GRCm39) |
F45S |
probably damaging |
Het |
Slc4a5 |
T |
A |
6: 83,262,881 (GRCm39) |
L791Q |
probably damaging |
Het |
Ssh1 |
T |
C |
5: 114,080,637 (GRCm39) |
D931G |
probably damaging |
Het |
Txndc16 |
T |
C |
14: 45,399,807 (GRCm39) |
Y382C |
probably damaging |
Het |
Uhrf2 |
T |
C |
19: 30,051,346 (GRCm39) |
F307L |
probably benign |
Het |
Zfhx2 |
C |
A |
14: 55,300,714 (GRCm39) |
A2346S |
probably benign |
Het |
|
Other mutations in Pnpla8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R4714:Pnpla8
|
UTSW |
12 |
44,342,696 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
|
Posted On |
2011-12-09 |