Incidental Mutation 'R0608:Pnpla8'
ID 54429
Institutional Source Beutler Lab
Gene Symbol Pnpla8
Ensembl Gene ENSMUSG00000036257
Gene Name patatin-like phospholipase domain containing 8
Synonyms 1200006O19Rik, iPLA2 gamma
MMRRC Submission 038797-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R0608 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 44315916-44362718 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44330246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 48 (P48L)
Ref Sequence ENSEMBL: ENSMUSP00000151660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043082] [ENSMUST00000122902] [ENSMUST00000125757] [ENSMUST00000143771] [ENSMUST00000218954]
AlphaFold Q8K1N1
Predicted Effect probably benign
Transcript: ENSMUST00000043082
AA Change: P266L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000043286
Gene: ENSMUSG00000036257
AA Change: P266L

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: P48L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120877
Gene: ENSMUSG00000036257
AA Change: P48L

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: ENSMUST00000125757
Predicted Effect probably benign
Transcript: ENSMUST00000143771
AA Change: P266L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000122560
Gene: ENSMUSG00000036257
AA Change: P266L

DomainStartEndE-ValueType
SCOP:d1gw5a_ 332 430 3e-3 SMART
Pfam:Patatin 439 658 7.3e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218954
AA Change: P48L

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A G 14: 78,748,193 (GRCm39) V1398A probably benign Het
Ampd3 C A 7: 110,394,997 (GRCm39) D315E probably damaging Het
Ampd3 T A 7: 110,394,998 (GRCm39) F316I probably damaging Het
Arhgef40 A C 14: 52,234,431 (GRCm39) E911D probably damaging Het
Atxn2l A G 7: 126,100,588 (GRCm39) probably null Het
Bckdhb T G 9: 83,835,789 (GRCm39) F98V probably damaging Het
Calhm1 C T 19: 47,132,280 (GRCm39) V112I probably benign Het
Ccdc28a G A 10: 18,100,699 (GRCm39) R90C probably damaging Het
Cdc40 A T 10: 40,724,048 (GRCm39) Y247N probably benign Het
Cds1 G A 5: 101,962,299 (GRCm39) V305M probably damaging Het
Cep128 T G 12: 90,966,309 (GRCm39) probably benign Het
Cep72 A T 13: 74,186,423 (GRCm39) H249Q probably damaging Het
Cfap70 A T 14: 20,498,631 (GRCm39) Y19N probably damaging Het
Col11a1 T C 3: 114,012,364 (GRCm39) probably benign Het
Cstdc6 T C 16: 36,143,386 (GRCm39) probably null Het
Cysltr1 A G X: 105,622,261 (GRCm39) V75A possibly damaging Het
Dnaaf11 T A 15: 66,252,323 (GRCm39) M448L probably benign Het
Dnah17 G T 11: 117,981,575 (GRCm39) Y1716* probably null Het
Dnm1 T C 2: 32,225,836 (GRCm39) E383G possibly damaging Het
Dst C A 1: 34,329,437 (GRCm39) probably null Het
Edil3 T C 13: 89,332,968 (GRCm39) S375P probably damaging Het
Eme1 A G 11: 94,540,908 (GRCm39) C277R probably damaging Het
Enam T C 5: 88,640,886 (GRCm39) W183R possibly damaging Het
Fbxl6 C T 15: 76,420,953 (GRCm39) V341M probably benign Het
Fgf14 A G 14: 124,914,015 (GRCm39) S39P probably damaging Het
Fmo4 C T 1: 162,631,220 (GRCm39) R249H possibly damaging Het
Gle1 T A 2: 29,830,240 (GRCm39) D265E probably benign Het
Gml2 T C 15: 74,693,235 (GRCm39) probably null Het
Golgb1 G T 16: 36,736,692 (GRCm39) E1980* probably null Het
Hap1 A G 11: 100,240,131 (GRCm39) L555P probably damaging Het
Heca T C 10: 17,791,039 (GRCm39) D339G possibly damaging Het
Hepacam2 T C 6: 3,483,479 (GRCm39) T101A possibly damaging Het
Ift88 T C 14: 57,733,678 (GRCm39) V707A probably benign Het
Kdm3a C T 6: 71,597,030 (GRCm39) G252D probably benign Het
Klhl11 A G 11: 100,363,068 (GRCm39) Y163H probably damaging Het
Kntc1 A T 5: 123,924,137 (GRCm39) N1008Y probably damaging Het
Lrp2 G T 2: 69,316,587 (GRCm39) N2131K probably benign Het
Magi3 C G 3: 103,924,873 (GRCm39) G1092A probably damaging Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Minar2 A G 18: 59,195,531 (GRCm39) probably null Het
Mrps26 G T 2: 130,405,778 (GRCm39) R27L possibly damaging Het
Myof T C 19: 37,904,952 (GRCm39) D1624G probably damaging Het
Naif1 T C 2: 32,344,908 (GRCm39) M204T probably benign Het
Ndufb8 T C 19: 44,538,784 (GRCm39) E179G possibly damaging Het
Neb A T 2: 52,216,769 (GRCm39) D135E probably benign Het
Nlrp6 C T 7: 140,503,399 (GRCm39) Q502* probably null Het
Nploc4 A G 11: 120,304,507 (GRCm39) L238P probably damaging Het
Obi1 T C 14: 104,716,963 (GRCm39) Y470C probably damaging Het
Or4d2 G A 11: 87,784,022 (GRCm39) H243Y probably damaging Het
Parp4 T A 14: 56,839,861 (GRCm39) V523E probably damaging Het
Pdgfra T C 5: 75,324,438 (GRCm39) Y98H probably damaging Het
Plcz1 C T 6: 139,936,459 (GRCm39) R590H probably damaging Het
Pnliprp1 T A 19: 58,726,628 (GRCm39) Y328* probably null Het
Rab44 T A 17: 29,366,317 (GRCm39) probably null Het
Ranbp2 T C 10: 58,329,720 (GRCm39) I3031T probably damaging Het
Sbno1 T C 5: 124,522,604 (GRCm39) D1072G probably damaging Het
Senp7 A G 16: 55,944,236 (GRCm39) T187A possibly damaging Het
Serpinh1 A G 7: 98,998,601 (GRCm39) C10R unknown Het
Sh2d4a A G 8: 68,799,346 (GRCm39) Y405C possibly damaging Het
Slc26a7 T C 4: 14,621,317 (GRCm39) D23G probably benign Het
Slc7a7 A G 14: 54,615,259 (GRCm39) L246P probably damaging Het
Spire1 T C 18: 67,661,945 (GRCm39) R163G probably damaging Het
Stxbp2 T A 8: 3,682,559 (GRCm39) D49E probably damaging Het
Susd2 C T 10: 75,474,069 (GRCm39) A509T probably benign Het
Sycp2 A G 2: 178,024,197 (GRCm39) F396L probably damaging Het
Syne2 T C 12: 76,010,587 (GRCm39) L2499P probably damaging Het
Syt10 C A 15: 89,711,144 (GRCm39) A130S probably benign Het
Sytl4 A T X: 132,862,936 (GRCm39) D16E probably benign Het
Tab2 C T 10: 7,795,883 (GRCm39) V126I probably damaging Het
Tecpr1 T C 5: 144,148,317 (GRCm39) T363A probably damaging Het
Terb2 A G 2: 122,016,816 (GRCm39) D16G probably benign Het
Tm2d2 A G 8: 25,510,552 (GRCm39) E137G probably benign Het
Trim30d T A 7: 104,121,692 (GRCm39) H201L probably damaging Het
Tspan3 A G 9: 56,054,669 (GRCm39) probably null Het
Ttn A T 2: 76,617,667 (GRCm39) L16268Q probably damaging Het
Ttn A T 2: 76,626,529 (GRCm39) probably null Het
Ubap2 T A 4: 41,218,319 (GRCm39) T263S probably benign Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Zeb2 A T 2: 44,886,138 (GRCm39) M973K possibly damaging Het
Zfp229 A G 17: 21,965,615 (GRCm39) E615G probably damaging Het
Zfp655 T A 5: 145,180,867 (GRCm39) S242T possibly damaging Het
Zfp788 T A 7: 41,297,705 (GRCm39) F62I possibly damaging Het
Zmynd8 A G 2: 165,629,078 (GRCm39) probably null 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
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
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'- TTAGCACTTCTGCTCCCAAGGGAC -3'
(R):5'- GCCTTTTCTTGCTGAAGTAGCACAC -3'

Sequencing Primer
(F):5'- TTAAGCAAGCCGTCGAGTCTC -3'
(R):5'- TGAAGTAGCACACGCTTTTTC -3'
Posted On 2013-07-11