Incidental Mutation 'R6135:Pnpla8'
| ID |
488306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnpla8
|
| Ensembl Gene |
ENSMUSG00000036257 |
| Gene Name |
patatin-like phospholipase domain containing 8 |
| Synonyms |
1200006O19Rik, iPLA2 gamma |
| MMRRC Submission |
044282-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R6135 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
44315916-44362718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 44329670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 74
(N74T)
|
| 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: N74T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000043286
Gene: ENSMUSG00000036257
AA Change: N74T
| 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
AA Change: N74T
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143771
AA Change: N74T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000122560
Gene: ENSMUSG00000036257
AA Change: N74T
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (55/55) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,402,335 (GRCm39) |
E95G |
probably damaging |
Het |
| Abca4 |
C |
T |
3: 121,932,096 (GRCm39) |
T250I |
possibly damaging |
Het |
| Ahi1 |
G |
A |
10: 20,845,020 (GRCm39) |
R375H |
probably benign |
Het |
| Aimp1 |
T |
C |
3: 132,377,844 (GRCm39) |
K174E |
probably benign |
Het |
| Aire |
A |
G |
10: 77,878,801 (GRCm39) |
L82P |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,259,656 (GRCm39) |
V760D |
possibly damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Carf |
C |
T |
1: 60,187,122 (GRCm39) |
S540F |
probably damaging |
Het |
| Ccdc171 |
T |
A |
4: 83,473,087 (GRCm39) |
M172K |
probably benign |
Het |
| Chpt1 |
A |
T |
10: 88,318,145 (GRCm39) |
V199E |
possibly damaging |
Het |
| Cldn16 |
G |
A |
16: 26,293,018 (GRCm39) |
D65N |
possibly damaging |
Het |
| Cnga3 |
G |
A |
1: 37,271,318 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,244,246 (GRCm39) |
T440A |
unknown |
Het |
| Creb3l3 |
A |
G |
10: 80,921,552 (GRCm39) |
I331T |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,832,379 (GRCm39) |
T1410A |
probably benign |
Het |
| Dnm1 |
T |
A |
2: 32,223,075 (GRCm39) |
|
probably null |
Het |
| Fhl5 |
A |
T |
4: 25,214,716 (GRCm39) |
Y20* |
probably null |
Het |
| Fignl1 |
T |
C |
11: 11,752,557 (GRCm39) |
D166G |
probably benign |
Het |
| Ghr |
T |
C |
15: 3,355,447 (GRCm39) |
I279V |
probably benign |
Het |
| Gm1979 |
T |
G |
5: 26,205,298 (GRCm39) |
S180R |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,189,292 (GRCm39) |
V1232A |
possibly damaging |
Het |
| Ifnar1 |
A |
G |
16: 91,298,508 (GRCm39) |
|
probably null |
Het |
| Inpp5d |
A |
G |
1: 87,548,119 (GRCm39) |
|
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnh2 |
T |
A |
5: 24,526,791 (GRCm39) |
S1002C |
probably damaging |
Het |
| Krt87 |
T |
A |
15: 101,385,415 (GRCm39) |
E319V |
probably damaging |
Het |
| Lbp |
A |
G |
2: 158,159,469 (GRCm39) |
I201V |
probably benign |
Het |
| Man1a2 |
G |
A |
3: 100,592,248 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,188,326 (GRCm39) |
T996A |
possibly damaging |
Het |
| Nat10 |
A |
G |
2: 103,573,661 (GRCm39) |
L319P |
probably damaging |
Het |
| Nelfa |
A |
G |
5: 34,056,620 (GRCm39) |
|
probably null |
Het |
| Or5b97 |
A |
C |
19: 12,878,803 (GRCm39) |
Y114D |
probably damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,138,870 (GRCm39) |
N166K |
probably damaging |
Het |
| Pcdha6 |
C |
A |
18: 37,102,269 (GRCm39) |
N487K |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,415,460 (GRCm39) |
D91G |
possibly damaging |
Het |
| Pigp |
A |
G |
16: 94,171,065 (GRCm39) |
F22L |
probably benign |
Het |
| Ppargc1b |
T |
C |
18: 61,448,980 (GRCm39) |
K114R |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,693,430 (GRCm39) |
D645G |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,332,854 (GRCm39) |
V2688I |
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,622,951 (GRCm39) |
H557R |
probably damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,267,545 (GRCm39) |
P1044S |
probably damaging |
Het |
| Rrp9 |
G |
A |
9: 106,360,221 (GRCm39) |
D210N |
probably damaging |
Het |
| Scin |
G |
T |
12: 40,129,807 (GRCm39) |
Q329K |
possibly damaging |
Het |
| Scn7a |
T |
A |
2: 66,534,244 (GRCm39) |
H477L |
probably benign |
Het |
| Slc26a8 |
A |
T |
17: 28,888,914 (GRCm39) |
M195K |
probably benign |
Het |
| Spata13 |
A |
G |
14: 60,993,877 (GRCm39) |
K1110E |
probably damaging |
Het |
| Spata24 |
T |
A |
18: 35,793,503 (GRCm39) |
E103V |
probably damaging |
Het |
| Srek1 |
T |
C |
13: 103,910,894 (GRCm39) |
N25S |
probably damaging |
Het |
| Strada |
T |
C |
11: 106,064,140 (GRCm39) |
Y59C |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,626,831 (GRCm39) |
W1143R |
probably damaging |
Het |
| Trip12 |
A |
T |
1: 84,738,559 (GRCm39) |
D765E |
probably benign |
Het |
| Ttbk2 |
G |
A |
2: 120,580,798 (GRCm39) |
R444C |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,644,303 (GRCm39) |
I4555N |
possibly damaging |
Het |
| Vcan |
C |
T |
13: 89,838,045 (GRCm39) |
E2500K |
probably benign |
Het |
| Vps16 |
A |
G |
2: 130,280,573 (GRCm39) |
Y200C |
possibly damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,693,668 (GRCm39) |
H2719L |
probably damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,311,653 (GRCm39) |
D347G |
possibly damaging |
Het |
| Zfp653 |
G |
A |
9: 21,969,558 (GRCm39) |
T236I |
probably damaging |
Het |
| Zscan4-ps1 |
A |
T |
7: 10,799,913 (GRCm39) |
H325Q |
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 |
|
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 |
|
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'- AATGCAAGAAGTCTTTGTGGGAAAC -3'
(R):5'- ACTCGACGGCTTGCTTAAC -3'
Sequencing Primer
(F):5'- TCTTTGTGGGAAACAGAGAAGC -3'
(R):5'- CTTTTCTTAATATTCGAGAACTTGGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation