Incidental Mutation 'R1120:Pnpla8'
ID 95536
Institutional Source Beutler Lab
Gene Symbol Pnpla8
Ensembl Gene ENSMUSG00000036257
Gene Name patatin-like phospholipase domain containing 8
Synonyms 1200006O19Rik, iPLA2 gamma
MMRRC Submission 039193-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R1120 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 44315916-44362718 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44351730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 568 (T568A)
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: T568A

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000043286
Gene: ENSMUSG00000036257
AA Change: T568A

DomainStartEndE-ValueType
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: T350A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000120877
Gene: ENSMUSG00000036257
AA Change: T350A

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000122560
Gene: ENSMUSG00000036257

DomainStartEndE-ValueType
SCOP:d1gw5a_ 332 430 3e-3 SMART
Pfam:Patatin 439 658 7.3e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156082
AA Change: T19A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000116922
Gene: ENSMUSG00000036257
AA Change: T19A

DomainStartEndE-ValueType
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 0.0858 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (40/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T G 5: 24,613,818 (GRCm39) probably null Het
Akp3 A T 1: 87,053,159 (GRCm39) Q77L probably damaging Het
Blm A G 7: 80,131,214 (GRCm39) L878S probably damaging Het
Cabin1 A G 10: 75,561,550 (GRCm39) Y984H probably damaging Het
Cadps2 T C 6: 23,838,793 (GRCm39) Q86R probably damaging Het
Cd2 C T 3: 101,194,804 (GRCm39) D95N probably damaging Het
Cd36 A G 5: 17,990,826 (GRCm39) I438T possibly damaging Het
Crhbp G T 13: 95,578,593 (GRCm39) T176K probably benign Het
D630045J12Rik G T 6: 38,171,705 (GRCm39) T821K probably damaging Het
Disp1 T C 1: 182,880,139 (GRCm39) D288G probably benign Het
Dsc3 A G 18: 20,120,034 (GRCm39) V208A probably benign Het
Eef1e1 A T 13: 38,842,910 (GRCm39) N20K probably damaging Het
Ercc5 A G 1: 44,201,001 (GRCm39) D187G probably damaging Het
Etl4 T A 2: 20,811,514 (GRCm39) M1199K probably benign Het
Fnbp1 A T 2: 30,926,606 (GRCm39) Y433N probably damaging Het
Fxyd3 A G 7: 30,770,803 (GRCm39) probably benign Het
Hfm1 A T 5: 107,052,084 (GRCm39) probably benign Het
Irak2 T A 6: 113,652,720 (GRCm39) probably benign Het
Jpt2 T C 17: 25,179,585 (GRCm39) M1V probably null Het
Knl1 A G 2: 118,892,856 (GRCm39) R51G probably damaging Het
Krtap8-1 A G 16: 89,284,753 (GRCm39) Y15H probably benign Het
Lrba A T 3: 86,202,499 (GRCm39) D250V probably damaging Het
Mgat4a A G 1: 37,491,662 (GRCm39) S357P probably damaging Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Or4a27 A G 2: 88,559,281 (GRCm39) Y221H probably damaging Het
Or4c109 A G 2: 88,818,423 (GRCm39) M41T possibly damaging Het
Or9k2 A G 10: 129,998,406 (GRCm39) L263P probably damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Ptprn A G 1: 75,234,825 (GRCm39) I254T probably benign Het
Rab5b A C 10: 128,515,483 (GRCm39) N188K probably benign Het
Samd5 A G 10: 9,504,792 (GRCm39) V154A possibly damaging Het
Smarcb1 A G 10: 75,757,157 (GRCm39) F25L probably benign Het
Smchd1 A T 17: 71,665,141 (GRCm39) Y1847* probably null Het
Smpd4 T C 16: 17,456,350 (GRCm39) probably benign Het
Tex14 T A 11: 87,429,502 (GRCm39) probably benign Het
Tnfrsf26 G A 7: 143,171,651 (GRCm39) R101C probably damaging Het
Trmu A G 15: 85,774,486 (GRCm39) K37E possibly damaging Het
Tsen54 C T 11: 115,705,839 (GRCm39) A52V probably damaging Het
Ubb T C 11: 62,443,009 (GRCm39) I13T possibly damaging Het
Vmn2r101 A T 17: 19,797,723 (GRCm39) probably benign Het
Other mutations in Pnpla8
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- acagaatgaggctcCTTGCATTTAACAA -3'
(R):5'- GGACTCTGTTCTACTTTACACCCGACTT -3'

Sequencing Primer
(F):5'- CTTTTTAACTCTCTAGGTAGCTGC -3'
(R):5'- GCCTTCATGCTGACTGAAAC -3'
Posted On 2014-01-05