Incidental Mutation 'R8482:Pnpla8'
| ID |
657579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnpla8
|
| Ensembl Gene |
ENSMUSG00000036257 |
| Gene Name |
patatin-like phospholipase domain containing 8 |
| Synonyms |
1200006O19Rik, iPLA2 gamma |
| MMRRC Submission |
067926-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R8482 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
44315916-44362718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44330410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 321
(S321P)
|
| 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: S321P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043286
Gene: ENSMUSG00000036257
AA Change: S321P
| 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: S103P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120877
Gene: ENSMUSG00000036257
AA Change: S103P
| 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: S321P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122560
Gene: ENSMUSG00000036257
AA Change: S321P
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (49/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
A |
7: 78,746,492 (GRCm39) |
V711I |
probably benign |
Het |
| Adprh |
A |
T |
16: 38,267,871 (GRCm39) |
M138K |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,591,107 (GRCm39) |
|
probably benign |
Het |
| Atg9a |
G |
A |
1: 75,162,870 (GRCm39) |
T410M |
probably damaging |
Het |
| Atxn1 |
A |
T |
13: 45,721,426 (GRCm39) |
S156R |
possibly damaging |
Het |
| Bptf |
T |
C |
11: 106,934,524 (GRCm39) |
T2850A |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,852,581 (GRCm39) |
Y386F |
probably damaging |
Het |
| Ccdc97 |
T |
C |
7: 25,414,427 (GRCm39) |
D109G |
probably damaging |
Het |
| Chd5 |
C |
T |
4: 152,441,147 (GRCm39) |
R196* |
probably null |
Het |
| Clec4a2 |
T |
C |
6: 123,100,630 (GRCm39) |
|
probably null |
Het |
| Col13a1 |
A |
G |
10: 61,720,477 (GRCm39) |
I317T |
probably damaging |
Het |
| D630003M21Rik |
G |
T |
2: 158,058,852 (GRCm39) |
S349R |
probably benign |
Het |
| Eml5 |
C |
A |
12: 98,842,560 (GRCm39) |
L179F |
probably damaging |
Het |
| Entrep1 |
T |
A |
19: 23,965,866 (GRCm39) |
N211I |
probably damaging |
Het |
| Ets2 |
A |
T |
16: 95,516,019 (GRCm39) |
M200L |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,158,263 (GRCm39) |
T1116A |
probably benign |
Het |
| Fhit |
A |
G |
14: 10,751,616 (GRCm38) |
V24A |
probably benign |
Het |
| Gm6685 |
T |
C |
11: 28,289,195 (GRCm39) |
N207S |
probably benign |
Het |
| Hdc |
G |
A |
2: 126,436,125 (GRCm39) |
T582M |
probably benign |
Het |
| Hmgxb4 |
G |
A |
8: 75,756,222 (GRCm39) |
C575Y |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,090,527 (GRCm39) |
S1164T |
probably benign |
Het |
| Ldb1 |
C |
A |
19: 46,024,709 (GRCm39) |
D5Y |
probably null |
Het |
| Lpcat1 |
G |
A |
13: 73,659,044 (GRCm39) |
R320H |
probably benign |
Het |
| Lrfn4 |
T |
C |
19: 4,664,333 (GRCm39) |
D67G |
probably damaging |
Het |
| Myo15b |
C |
T |
11: 115,774,083 (GRCm39) |
Q550* |
probably null |
Het |
| Myo18b |
C |
A |
5: 113,019,489 (GRCm39) |
E43* |
probably null |
Het |
| Neurl1a |
T |
C |
19: 47,241,719 (GRCm39) |
C271R |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,532,827 (GRCm39) |
S690G |
probably damaging |
Het |
| Ngly1 |
T |
C |
14: 16,310,377 (GRCm38) |
S501P |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 70,999,901 (GRCm39) |
|
probably null |
Het |
| Npw |
A |
G |
17: 24,876,396 (GRCm39) |
W172R |
probably benign |
Het |
| Nudt8 |
T |
C |
19: 4,050,849 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
A |
T |
1: 81,219,352 (GRCm39) |
Y458F |
probably damaging |
Het |
| Or10ag56 |
G |
A |
2: 87,139,726 (GRCm39) |
V198I |
probably benign |
Het |
| Osbpl5 |
T |
A |
7: 143,258,731 (GRCm39) |
T280S |
probably benign |
Het |
| Pex1 |
A |
T |
5: 3,662,923 (GRCm39) |
I505F |
probably benign |
Het |
| Pfkm |
A |
G |
15: 98,029,864 (GRCm39) |
E756G |
probably benign |
Het |
| Pkd2l2 |
A |
G |
18: 34,558,166 (GRCm39) |
I282V |
possibly damaging |
Het |
| Prxl2a |
C |
T |
14: 40,719,723 (GRCm39) |
E164K |
probably benign |
Het |
| Qdpr |
G |
T |
5: 45,596,688 (GRCm39) |
Q159K |
probably benign |
Het |
| Rac2 |
T |
C |
15: 78,450,206 (GRCm39) |
M45V |
probably benign |
Het |
| Rnaset2b |
G |
A |
17: 7,263,908 (GRCm39) |
|
probably null |
Het |
| Rpl38 |
T |
A |
11: 114,563,114 (GRCm39) |
*71R |
probably null |
Het |
| Sacs |
G |
T |
14: 61,440,404 (GRCm39) |
V817L |
probably benign |
Het |
| Selenot |
T |
C |
3: 58,495,889 (GRCm39) |
F133S |
probably damaging |
Het |
| Sgcg |
G |
A |
14: 61,477,856 (GRCm39) |
L78F |
probably damaging |
Het |
| Slc19a1 |
A |
G |
10: 76,885,497 (GRCm39) |
R466G |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,309,451 (GRCm39) |
T1736A |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,674,511 (GRCm39) |
I1854V |
probably benign |
Het |
| Zfp652 |
T |
C |
11: 95,643,719 (GRCm39) |
S306P |
probably damaging |
Het |
| Zfp998 |
C |
T |
13: 66,579,797 (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 |
|
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 |
|
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'- GACTCGGAATCTCCCCTAGAAG -3'
(R):5'- TGAACTAAGGCTCGAGTTCTG -3'
Sequencing Primer
(F):5'- TCGGAATCTCCCCTAGAAGTTAAAG -3'
(R):5'- GAACTAAGGCTCGAGTTCTGTTATC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation