Incidental Mutation 'R0063:Pnpla8'
| ID |
16464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnpla8
|
| Ensembl Gene |
ENSMUSG00000036257 |
| Gene Name |
patatin-like phospholipase domain containing 8 |
| Synonyms |
1200006O19Rik, iPLA2 gamma |
| MMRRC Submission |
038355-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R0063 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
44315916-44362718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44329615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 56
(C56S)
|
| 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: C56S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043286
Gene: ENSMUSG00000036257
AA Change: C56S
| 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 damaging
Transcript: ENSMUST00000125757
AA Change: C56S
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143771
AA Change: C56S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000122560
Gene: ENSMUSG00000036257
AA Change: C56S
| 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
|
| Meta Mutation Damage Score |
0.3711 |
| Coding Region Coverage |
- 1x: 89.1%
- 3x: 86.1%
- 10x: 78.0%
- 20x: 64.7%
|
| Validation Efficiency |
99% (86/87) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
C |
T |
16: 4,678,912 (GRCm39) |
R245* |
probably null |
Het |
| 4930563I02Rik |
T |
A |
14: 60,333,477 (GRCm39) |
|
probably benign |
Het |
| Acss1 |
T |
C |
2: 150,469,212 (GRCm39) |
T435A |
probably damaging |
Het |
| Aoc2 |
T |
A |
11: 101,216,897 (GRCm39) |
S327T |
probably damaging |
Het |
| Arid5a |
T |
A |
1: 36,357,645 (GRCm39) |
Y252N |
probably damaging |
Het |
| AU040320 |
T |
C |
4: 126,733,465 (GRCm39) |
Y662H |
probably damaging |
Het |
| Bcam |
C |
T |
7: 19,500,773 (GRCm39) |
V134I |
probably benign |
Het |
| Btbd16 |
A |
T |
7: 130,424,896 (GRCm39) |
T426S |
probably benign |
Het |
| Cap2 |
T |
C |
13: 46,791,508 (GRCm39) |
|
probably benign |
Het |
| Capn8 |
T |
A |
1: 182,429,677 (GRCm39) |
D299E |
probably damaging |
Het |
| Cdipt |
G |
A |
7: 126,578,772 (GRCm39) |
V160I |
probably benign |
Het |
| Cyb5r3 |
T |
C |
15: 83,046,137 (GRCm39) |
T60A |
probably benign |
Het |
| Dazl |
T |
C |
17: 152,705,859 (NCBIm37) |
T212A |
probably damaging |
Het |
| Dgkb |
T |
G |
12: 38,654,112 (GRCm39) |
S744A |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,647,111 (GRCm39) |
|
probably null |
Het |
| Ece2 |
A |
G |
16: 20,461,067 (GRCm39) |
T442A |
probably benign |
Het |
| Elapor2 |
T |
C |
5: 9,490,709 (GRCm39) |
|
probably benign |
Het |
| Emid1 |
A |
T |
11: 5,139,704 (GRCm38) |
|
probably benign |
Het |
| Eml3 |
C |
A |
19: 8,915,842 (GRCm39) |
A644D |
probably damaging |
Het |
| Foxp1 |
A |
G |
6: 98,921,684 (GRCm39) |
|
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,252,857 (GRCm39) |
N75S |
probably damaging |
Het |
| Irs1 |
T |
A |
1: 82,266,580 (GRCm39) |
E545D |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,661,762 (GRCm39) |
|
probably benign |
Het |
| Nat8f2 |
A |
T |
6: 85,844,815 (GRCm39) |
S182R |
possibly damaging |
Het |
| Nrcam |
G |
T |
12: 44,596,811 (GRCm39) |
V343F |
possibly damaging |
Het |
| Pdk2 |
T |
C |
11: 94,923,306 (GRCm39) |
H106R |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,282,174 (GRCm39) |
T2889I |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,392,633 (GRCm39) |
L1656H |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,327,247 (GRCm39) |
T394S |
probably benign |
Het |
| Prdm8 |
G |
T |
5: 98,332,453 (GRCm39) |
R118L |
probably damaging |
Het |
| Prkce |
T |
C |
17: 86,789,539 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,139,763 (GRCm39) |
Y163N |
probably damaging |
Het |
| Rbbp8 |
T |
A |
18: 11,867,614 (GRCm39) |
|
probably benign |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Slc2a2 |
T |
C |
3: 28,771,589 (GRCm39) |
M173T |
probably damaging |
Het |
| Slc2a8 |
T |
A |
2: 32,870,011 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
C |
T |
1: 36,858,209 (GRCm39) |
V713I |
probably benign |
Het |
| Tmem89 |
A |
G |
9: 108,743,880 (GRCm39) |
N60S |
probably benign |
Het |
| Trio |
G |
T |
15: 27,881,523 (GRCm39) |
|
probably benign |
Het |
| Tulp2 |
T |
C |
7: 45,170,284 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,244,542 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,401,656 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,339,427 (GRCm39) |
D556G |
probably damaging |
Het |
| Xrn1 |
T |
C |
9: 95,851,588 (GRCm39) |
L202P |
probably damaging |
Het |
| Zfp354a |
A |
T |
11: 50,960,398 (GRCm39) |
H203L |
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 |
|
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 |
2013-01-20 |
Incidental Mutation