Incidental Mutation 'R6125:Pnpla8'
| ID |
487358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnpla8
|
| Ensembl Gene |
ENSMUSG00000036257 |
| Gene Name |
patatin-like phospholipase domain containing 8 |
| Synonyms |
1200006O19Rik, iPLA2 gamma |
| MMRRC Submission |
044272-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R6125 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
44315916-44362718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44354772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 644
(T644M)
|
| 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: T644M
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000043286
Gene: ENSMUSG00000036257
AA Change: T644M
| 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: T426M
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000120877
Gene: ENSMUSG00000036257
AA Change: T426M
| 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
AA Change: T579M
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000122560
Gene: ENSMUSG00000036257
AA Change: T579M
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
332 |
430 |
3e-3 |
SMART |
|
Pfam:Patatin
|
439 |
658 |
7.3e-17 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000156082
AA Change: T95M
|
| SMART Domains |
Protein: ENSMUSP00000116922
Gene: ENSMUSG00000036257
AA Change: T95M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patatin
|
5 |
84 |
2.4e-9 |
PFAM |
|
low complexity region
|
114 |
125 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218803
AA Change: T117M
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.5%
|
| Validation Efficiency |
97% (65/67) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef11 |
T |
C |
3: 87,636,909 (GRCm39) |
F1023S |
probably damaging |
Het |
| Atp1a1 |
G |
A |
3: 101,498,023 (GRCm39) |
R255C |
probably damaging |
Het |
| Bbs12 |
A |
G |
3: 37,374,700 (GRCm39) |
I383V |
probably benign |
Het |
| Cacna1h |
G |
A |
17: 25,604,668 (GRCm39) |
P1215L |
probably benign |
Het |
| Calm5 |
A |
T |
13: 3,904,491 (GRCm39) |
K62* |
probably null |
Het |
| Chd8 |
T |
A |
14: 52,444,491 (GRCm39) |
H398L |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,454,217 (GRCm39) |
T88A |
probably benign |
Het |
| Dlgap2 |
A |
T |
8: 14,777,193 (GRCm39) |
H146L |
possibly damaging |
Het |
| Dop1a |
G |
A |
9: 86,403,186 (GRCm39) |
R1462H |
probably damaging |
Het |
| Dusp29 |
C |
A |
14: 21,736,758 (GRCm39) |
V115L |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,168,706 (GRCm39) |
N369S |
probably damaging |
Het |
| Fer1l4 |
A |
C |
2: 155,888,907 (GRCm39) |
V422G |
probably damaging |
Het |
| Fstl4 |
T |
C |
11: 53,077,130 (GRCm39) |
M629T |
probably benign |
Het |
| Galnt18 |
A |
G |
7: 111,084,400 (GRCm39) |
Y507H |
probably damaging |
Het |
| Gar1 |
C |
A |
3: 129,624,399 (GRCm39) |
|
probably benign |
Het |
| Gm19402 |
T |
C |
10: 77,526,507 (GRCm39) |
T29A |
probably damaging |
Het |
| Gm826 |
A |
G |
2: 160,169,034 (GRCm39) |
F92L |
unknown |
Het |
| H1f0 |
T |
A |
15: 78,913,070 (GRCm39) |
I50N |
probably damaging |
Het |
| H2-DMb1 |
A |
G |
17: 34,376,439 (GRCm39) |
Y186C |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,803,159 (GRCm39) |
N357S |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hsf2 |
T |
C |
10: 57,388,101 (GRCm39) |
V415A |
probably benign |
Het |
| Ins2 |
C |
A |
7: 142,233,430 (GRCm39) |
|
probably null |
Het |
| Kel |
A |
T |
6: 41,667,720 (GRCm39) |
F89L |
probably damaging |
Het |
| Lratd2 |
T |
C |
15: 60,695,146 (GRCm39) |
N200S |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,392,386 (GRCm39) |
D1013G |
probably benign |
Het |
| Ltbp4 |
C |
A |
7: 27,027,180 (GRCm39) |
G397C |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,982,797 (GRCm39) |
|
probably null |
Het |
| Map4k4 |
A |
G |
1: 40,043,125 (GRCm39) |
D660G |
possibly damaging |
Het |
| Mdm4 |
G |
A |
1: 132,922,248 (GRCm39) |
T298I |
possibly damaging |
Het |
| Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,215,764 (GRCm39) |
C1487S |
probably benign |
Het |
| Mtus1 |
A |
G |
8: 41,537,576 (GRCm39) |
S47P |
probably damaging |
Het |
| Nek1 |
T |
C |
8: 61,481,735 (GRCm39) |
S217P |
probably damaging |
Het |
| Or10ag59 |
T |
C |
2: 87,405,590 (GRCm39) |
I54T |
probably benign |
Het |
| Or5b123 |
C |
T |
19: 13,597,249 (GRCm39) |
A241V |
probably benign |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,679 (GRCm39) |
V585A |
possibly damaging |
Het |
| Perm1 |
A |
G |
4: 156,302,176 (GRCm39) |
E240G |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,700,585 (GRCm39) |
T1784A |
probably damaging |
Het |
| Rgs2 |
T |
C |
1: 143,879,763 (GRCm39) |
K32E |
probably damaging |
Het |
| Scyl3 |
A |
T |
1: 163,778,145 (GRCm39) |
M428L |
probably benign |
Het |
| Slc30a8 |
A |
G |
15: 52,198,530 (GRCm39) |
D325G |
probably benign |
Het |
| Slc5a9 |
G |
T |
4: 111,741,002 (GRCm39) |
T548K |
probably damaging |
Het |
| Slc9b2 |
G |
A |
3: 135,036,457 (GRCm39) |
|
probably null |
Het |
| Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,461,560 (GRCm39) |
|
probably null |
Het |
| Stk39 |
C |
A |
2: 68,222,468 (GRCm39) |
G199C |
probably damaging |
Het |
| Tbx1 |
A |
G |
16: 18,402,216 (GRCm39) |
F263L |
probably damaging |
Het |
| Tcf21 |
G |
T |
10: 22,695,665 (GRCm39) |
N46K |
probably benign |
Het |
| Tdrd9 |
T |
A |
12: 112,034,632 (GRCm39) |
M1357K |
possibly damaging |
Het |
| Tll1 |
A |
G |
8: 64,504,521 (GRCm39) |
L625P |
probably damaging |
Het |
| Tmem131 |
G |
A |
1: 36,847,387 (GRCm39) |
S1237L |
possibly damaging |
Het |
| Trdv5 |
T |
C |
14: 54,386,298 (GRCm39) |
K56E |
possibly damaging |
Het |
| Triml2 |
G |
A |
8: 43,640,659 (GRCm39) |
V172I |
probably benign |
Het |
| Trmt44 |
C |
A |
5: 35,722,842 (GRCm39) |
D409Y |
probably damaging |
Het |
| Ube2o |
C |
T |
11: 116,432,204 (GRCm39) |
A921T |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,435,576 (GRCm39) |
D404G |
possibly damaging |
Het |
| Ube4b |
T |
C |
4: 149,483,203 (GRCm39) |
T22A |
probably benign |
Het |
| Ugp2 |
A |
T |
11: 21,279,815 (GRCm39) |
F327L |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,521,172 (GRCm39) |
S910P |
probably damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,990,836 (GRCm39) |
Y842H |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,463,871 (GRCm39) |
D1368G |
possibly damaging |
Het |
| Zfp980 |
T |
A |
4: 145,429,208 (GRCm39) |
*646R |
probably null |
Het |
| Zranb3 |
T |
A |
1: 127,887,482 (GRCm39) |
N982Y |
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 |
|
|
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'- GCACGTGAATCAGCTCATTTG -3'
(R):5'- GTGGGTGATGAGCTCCTAAG -3'
Sequencing Primer
(F):5'- CACGTGAATCAGCTCATTTGAAAGG -3'
(R):5'- AACCACTCTTTCACAGTTGAGATC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation