Incidental Mutation 'R1120:Pnpla8'
ID |
95536 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pnpla8
|
Ensembl Gene |
ENSMUSG00000036257 |
Gene Name |
patatin-like phospholipase domain containing 8 |
Synonyms |
1200006O19Rik, iPLA2 gamma |
MMRRC Submission |
039193-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R1120 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
44315916-44362718 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44351730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 568
(T568A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043286
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043082]
[ENSMUST00000122902]
[ENSMUST00000143771]
[ENSMUST00000156082]
|
AlphaFold |
Q8K1N1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043082
AA Change: T568A
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000043286 Gene: ENSMUSG00000036257 AA Change: T568A
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: T350A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000120877 Gene: ENSMUSG00000036257 AA Change: T350A
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: ENSMUST00000143771
|
SMART Domains |
Protein: ENSMUSP00000122560 Gene: ENSMUSG00000036257
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
AA Change: T19A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000116922 Gene: ENSMUSG00000036257 AA Change: T19A
Domain | Start | End | E-Value | Type |
Pfam:Patatin
|
5 |
84 |
2.4e-9 |
PFAM |
low complexity region
|
114 |
125 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218803
|
Meta Mutation Damage Score |
0.0858 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
Validation Efficiency |
100% (40/40) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
T |
G |
5: 24,613,818 (GRCm39) |
|
probably null |
Het |
Akp3 |
A |
T |
1: 87,053,159 (GRCm39) |
Q77L |
probably damaging |
Het |
Blm |
A |
G |
7: 80,131,214 (GRCm39) |
L878S |
probably damaging |
Het |
Cabin1 |
A |
G |
10: 75,561,550 (GRCm39) |
Y984H |
probably damaging |
Het |
Cadps2 |
T |
C |
6: 23,838,793 (GRCm39) |
Q86R |
probably damaging |
Het |
Cd2 |
C |
T |
3: 101,194,804 (GRCm39) |
D95N |
probably damaging |
Het |
Cd36 |
A |
G |
5: 17,990,826 (GRCm39) |
I438T |
possibly damaging |
Het |
Crhbp |
G |
T |
13: 95,578,593 (GRCm39) |
T176K |
probably benign |
Het |
D630045J12Rik |
G |
T |
6: 38,171,705 (GRCm39) |
T821K |
probably damaging |
Het |
Disp1 |
T |
C |
1: 182,880,139 (GRCm39) |
D288G |
probably benign |
Het |
Dsc3 |
A |
G |
18: 20,120,034 (GRCm39) |
V208A |
probably benign |
Het |
Eef1e1 |
A |
T |
13: 38,842,910 (GRCm39) |
N20K |
probably damaging |
Het |
Ercc5 |
A |
G |
1: 44,201,001 (GRCm39) |
D187G |
probably damaging |
Het |
Etl4 |
T |
A |
2: 20,811,514 (GRCm39) |
M1199K |
probably benign |
Het |
Fnbp1 |
A |
T |
2: 30,926,606 (GRCm39) |
Y433N |
probably damaging |
Het |
Fxyd3 |
A |
G |
7: 30,770,803 (GRCm39) |
|
probably benign |
Het |
Hfm1 |
A |
T |
5: 107,052,084 (GRCm39) |
|
probably benign |
Het |
Irak2 |
T |
A |
6: 113,652,720 (GRCm39) |
|
probably benign |
Het |
Jpt2 |
T |
C |
17: 25,179,585 (GRCm39) |
M1V |
probably null |
Het |
Knl1 |
A |
G |
2: 118,892,856 (GRCm39) |
R51G |
probably damaging |
Het |
Krtap8-1 |
A |
G |
16: 89,284,753 (GRCm39) |
Y15H |
probably benign |
Het |
Lrba |
A |
T |
3: 86,202,499 (GRCm39) |
D250V |
probably damaging |
Het |
Mgat4a |
A |
G |
1: 37,491,662 (GRCm39) |
S357P |
probably damaging |
Het |
Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
Or4a27 |
A |
G |
2: 88,559,281 (GRCm39) |
Y221H |
probably damaging |
Het |
Or4c109 |
A |
G |
2: 88,818,423 (GRCm39) |
M41T |
possibly damaging |
Het |
Or9k2 |
A |
G |
10: 129,998,406 (GRCm39) |
L263P |
probably damaging |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Ptprn |
A |
G |
1: 75,234,825 (GRCm39) |
I254T |
probably benign |
Het |
Rab5b |
A |
C |
10: 128,515,483 (GRCm39) |
N188K |
probably benign |
Het |
Samd5 |
A |
G |
10: 9,504,792 (GRCm39) |
V154A |
possibly damaging |
Het |
Smarcb1 |
A |
G |
10: 75,757,157 (GRCm39) |
F25L |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,665,141 (GRCm39) |
Y1847* |
probably null |
Het |
Smpd4 |
T |
C |
16: 17,456,350 (GRCm39) |
|
probably benign |
Het |
Tex14 |
T |
A |
11: 87,429,502 (GRCm39) |
|
probably benign |
Het |
Tnfrsf26 |
G |
A |
7: 143,171,651 (GRCm39) |
R101C |
probably damaging |
Het |
Trmu |
A |
G |
15: 85,774,486 (GRCm39) |
K37E |
possibly damaging |
Het |
Tsen54 |
C |
T |
11: 115,705,839 (GRCm39) |
A52V |
probably damaging |
Het |
Ubb |
T |
C |
11: 62,443,009 (GRCm39) |
I13T |
possibly damaging |
Het |
Vmn2r101 |
A |
T |
17: 19,797,723 (GRCm39) |
|
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- acagaatgaggctcCTTGCATTTAACAA -3'
(R):5'- GGACTCTGTTCTACTTTACACCCGACTT -3'
Sequencing Primer
(F):5'- CTTTTTAACTCTCTAGGTAGCTGC -3'
(R):5'- GCCTTCATGCTGACTGAAAC -3'
|
Posted On |
2014-01-05 |