Incidental Mutation 'R2392:Pnpla8'
ID |
247826 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pnpla8
|
Ensembl Gene |
ENSMUSG00000036257 |
Gene Name |
patatin-like phospholipase domain containing 8 |
Synonyms |
1200006O19Rik, iPLA2 gamma |
MMRRC Submission |
040360-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R2392 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
44315916-44362718 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44358287 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 746
(L746I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043286
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043082]
[ENSMUST00000122902]
[ENSMUST00000143771]
[ENSMUST00000156082]
|
AlphaFold |
Q8K1N1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043082
AA Change: L746I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043286 Gene: ENSMUSG00000036257 AA Change: L746I
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 damaging
Transcript: ENSMUST00000122902
AA Change: L528I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120877 Gene: ENSMUSG00000036257 AA Change: L528I
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: ENSMUST00000143771
AA Change: L681I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000122560 Gene: ENSMUSG00000036257 AA Change: L681I
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
|
SMART Domains |
Protein: ENSMUSP00000116922 Gene: ENSMUSG00000036257
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 |
0.4407 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
96% (53/55) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,297,264 (GRCm39) |
S2409T |
probably damaging |
Het |
Acap2 |
A |
G |
16: 30,958,458 (GRCm39) |
F120S |
probably damaging |
Het |
Akr1c6 |
A |
G |
13: 4,484,477 (GRCm39) |
|
probably null |
Het |
Bptf |
C |
A |
11: 106,963,573 (GRCm39) |
A1874S |
probably damaging |
Het |
Ccnl1 |
A |
G |
3: 65,856,173 (GRCm39) |
V244A |
probably damaging |
Het |
Cenpe |
T |
G |
3: 134,953,874 (GRCm39) |
L1628R |
probably damaging |
Het |
Cfap54 |
A |
G |
10: 92,860,873 (GRCm39) |
|
probably null |
Het |
Chchd7 |
T |
A |
4: 3,943,381 (GRCm39) |
|
probably null |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Crybg2 |
G |
T |
4: 133,799,925 (GRCm39) |
V362L |
probably benign |
Het |
Ddx11 |
T |
A |
17: 66,456,968 (GRCm39) |
V791E |
probably damaging |
Het |
Disp1 |
G |
A |
1: 182,868,731 (GRCm39) |
P1230S |
probably benign |
Het |
Elp5 |
T |
C |
11: 69,865,928 (GRCm39) |
H116R |
probably benign |
Het |
Epb42 |
T |
C |
2: 120,860,468 (GRCm39) |
E177G |
possibly damaging |
Het |
F13a1 |
T |
A |
13: 37,127,971 (GRCm39) |
I336F |
possibly damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fcsk |
A |
G |
8: 111,616,356 (GRCm39) |
M453T |
probably benign |
Het |
Hacd2 |
A |
T |
16: 34,926,748 (GRCm39) |
E249V |
probably benign |
Het |
Hnrnpf |
C |
A |
6: 117,901,829 (GRCm39) |
A371D |
possibly damaging |
Het |
Jmjd1c |
A |
G |
10: 67,065,683 (GRCm39) |
T1703A |
probably damaging |
Het |
Kcnj13 |
G |
A |
1: 87,314,622 (GRCm39) |
T200I |
possibly damaging |
Het |
Kif1b |
G |
A |
4: 149,305,077 (GRCm39) |
T949M |
possibly damaging |
Het |
Klhl35 |
G |
A |
7: 99,123,031 (GRCm39) |
A552T |
possibly damaging |
Het |
Krt74 |
A |
G |
15: 101,665,236 (GRCm39) |
|
noncoding transcript |
Het |
Krtap14 |
T |
A |
16: 88,622,597 (GRCm39) |
|
probably null |
Het |
Lrrc45 |
A |
G |
11: 120,610,365 (GRCm39) |
N492S |
probably benign |
Het |
Lrrcc1 |
T |
A |
3: 14,601,580 (GRCm39) |
N114K |
probably damaging |
Het |
Mfsd2b |
T |
C |
12: 4,915,164 (GRCm39) |
D375G |
possibly damaging |
Het |
Mgat4a |
A |
G |
1: 37,537,785 (GRCm39) |
L44P |
probably damaging |
Het |
Mttp |
A |
C |
3: 137,800,782 (GRCm39) |
D774E |
probably damaging |
Het |
Myo5a |
T |
C |
9: 75,116,521 (GRCm39) |
V1554A |
probably benign |
Het |
Nes |
C |
T |
3: 87,883,250 (GRCm39) |
A503V |
probably benign |
Het |
Nme8 |
A |
G |
13: 19,873,113 (GRCm39) |
|
probably null |
Het |
Nr4a1 |
A |
G |
15: 101,172,075 (GRCm39) |
D583G |
possibly damaging |
Het |
Or12d17 |
A |
G |
17: 37,777,310 (GRCm39) |
Y71C |
probably damaging |
Het |
Or5k14 |
A |
G |
16: 58,692,797 (GRCm39) |
S239P |
probably damaging |
Het |
Ppp1r7 |
A |
T |
1: 93,282,063 (GRCm39) |
I205F |
probably benign |
Het |
Psd4 |
C |
A |
2: 24,284,679 (GRCm39) |
P181Q |
probably damaging |
Het |
Ripor2 |
G |
A |
13: 24,890,206 (GRCm39) |
V694I |
probably benign |
Het |
Scn10a |
A |
G |
9: 119,456,268 (GRCm39) |
S1185P |
possibly damaging |
Het |
Sec23b |
T |
A |
2: 144,427,507 (GRCm39) |
|
probably null |
Het |
Slfn2 |
A |
G |
11: 82,956,154 (GRCm39) |
N12S |
possibly damaging |
Het |
Slfn4 |
A |
G |
11: 83,076,248 (GRCm39) |
K38R |
possibly damaging |
Het |
Smarca2 |
G |
T |
19: 26,618,050 (GRCm39) |
|
probably null |
Het |
Taar4 |
A |
G |
10: 23,837,172 (GRCm39) |
T261A |
possibly damaging |
Het |
Tbl2 |
A |
G |
5: 135,185,368 (GRCm39) |
D159G |
probably benign |
Het |
Tmem120a |
T |
C |
5: 135,770,892 (GRCm39) |
E55G |
probably damaging |
Het |
Ttc21b |
A |
G |
2: 66,037,794 (GRCm39) |
|
probably null |
Het |
Vill |
A |
T |
9: 118,896,628 (GRCm39) |
|
probably benign |
Het |
Vmn2r28 |
A |
T |
7: 5,487,130 (GRCm39) |
M511K |
probably damaging |
Het |
Vmn2r81 |
A |
T |
10: 79,110,516 (GRCm39) |
D543V |
probably damaging |
Het |
Wdr95 |
A |
G |
5: 149,504,135 (GRCm39) |
T314A |
probably benign |
Het |
Zbtb8b |
A |
G |
4: 129,326,982 (GRCm39) |
I61T |
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 |
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 |
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'- CATATCATGCTTGATGGCCTGTTG -3'
(R):5'- GGATGGAGCTGTTCAAAGCATTATC -3'
Sequencing Primer
(F):5'- GTTGCCTTCTGACACGTACTTTAG -3'
(R):5'- CTAAGTGTCATGTTGAATCACACCG -3'
|
Posted On |
2014-11-11 |