Incidental Mutation 'IGL01477:Pnpla8'
ID |
88484 |
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 # |
IGL01477
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
44315916-44362718 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44330441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 331
(D331G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122560
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043082]
[ENSMUST00000122902]
[ENSMUST00000125757]
[ENSMUST00000143771]
[ENSMUST00000218954]
|
AlphaFold |
Q8K1N1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043082
AA Change: D331G
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000043286 Gene: ENSMUSG00000036257 AA Change: D331G
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
AA Change: D113G
PolyPhen 2
Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000120877 Gene: ENSMUSG00000036257 AA Change: D113G
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 damaging
Transcript: ENSMUST00000143771
AA Change: D331G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000122560 Gene: ENSMUSG00000036257 AA Change: D331G
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armh3 |
A |
G |
19: 45,967,043 (GRCm39) |
F33S |
probably damaging |
Het |
Aven |
T |
C |
2: 112,460,277 (GRCm39) |
S132P |
probably benign |
Het |
Cadps2 |
G |
A |
6: 23,263,672 (GRCm39) |
T1233M |
probably damaging |
Het |
Cdh16 |
T |
C |
8: 105,345,140 (GRCm39) |
E383G |
probably damaging |
Het |
Cxxc1 |
A |
G |
18: 74,352,985 (GRCm39) |
K432E |
possibly damaging |
Het |
Elapor2 |
A |
T |
5: 9,487,756 (GRCm39) |
K547N |
probably damaging |
Het |
Eprs1 |
G |
T |
1: 185,143,572 (GRCm39) |
|
probably benign |
Het |
Etv4 |
T |
C |
11: 101,667,954 (GRCm39) |
D74G |
possibly damaging |
Het |
Glb1l |
A |
T |
1: 75,185,350 (GRCm39) |
I120N |
probably damaging |
Het |
Grpel1 |
G |
A |
5: 36,627,986 (GRCm39) |
R89Q |
probably damaging |
Het |
Ifi44 |
C |
T |
3: 151,451,635 (GRCm39) |
|
probably benign |
Het |
Ikzf3 |
T |
C |
11: 98,379,683 (GRCm39) |
H195R |
probably damaging |
Het |
Mug2 |
A |
G |
6: 122,058,643 (GRCm39) |
|
probably benign |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Or8c17 |
T |
A |
9: 38,180,615 (GRCm39) |
S269T |
possibly damaging |
Het |
Pcnx1 |
A |
T |
12: 82,020,015 (GRCm39) |
K1346I |
probably damaging |
Het |
Pcnx2 |
C |
T |
8: 126,512,044 (GRCm39) |
V1421I |
probably damaging |
Het |
Ppp1r3a |
A |
T |
6: 14,718,345 (GRCm39) |
N856K |
probably damaging |
Het |
Ptk7 |
T |
C |
17: 46,887,806 (GRCm39) |
D542G |
possibly damaging |
Het |
Slc4a2 |
A |
G |
5: 24,635,154 (GRCm39) |
|
probably benign |
Het |
Smarce1 |
C |
T |
11: 99,101,013 (GRCm39) |
G373E |
possibly damaging |
Het |
Speg |
A |
G |
1: 75,368,541 (GRCm39) |
N697S |
probably damaging |
Het |
Supt5 |
T |
C |
7: 28,016,689 (GRCm39) |
H731R |
possibly damaging |
Het |
Tmod2 |
T |
C |
9: 75,502,283 (GRCm39) |
H68R |
probably benign |
Het |
Vmn2r68 |
A |
C |
7: 84,882,691 (GRCm39) |
C354G |
probably damaging |
Het |
Zfp277 |
A |
T |
12: 40,370,675 (GRCm39) |
Y425N |
probably benign |
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 |
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 |
2013-11-18 |