Incidental Mutation 'R8735:Pnpla8'
ID 662994
Institutional Source Beutler Lab
Gene Symbol Pnpla8
Ensembl Gene ENSMUSG00000036257
Gene Name patatin-like phospholipase domain containing 8
Synonyms 1200006O19Rik, iPLA2 gamma
MMRRC Submission 068583-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R8735 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 44315916-44362718 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44330222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 258 (E258G)
Ref Sequence ENSEMBL: ENSMUSP00000043286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043082] [ENSMUST00000122902] [ENSMUST00000125757] [ENSMUST00000143771] [ENSMUST00000218954]
AlphaFold Q8K1N1
Predicted Effect probably benign
Transcript: ENSMUST00000043082
AA Change: E258G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043286
Gene: ENSMUSG00000036257
AA Change: E258G

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: E40G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120877
Gene: ENSMUSG00000036257
AA Change: E40G

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: E258G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122560
Gene: ENSMUSG00000036257
AA Change: E258G

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: E40G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 99% (76/77)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik A G 2: 155,845,731 (GRCm39) F9S unknown Het
Abhd10 A G 16: 45,557,997 (GRCm39) F101L probably damaging Het
Acp2 A G 2: 91,034,651 (GRCm39) T93A probably benign Het
Adamts9 C T 6: 92,837,048 (GRCm39) probably benign Het
Aknad1 T A 3: 108,682,615 (GRCm39) probably benign Het
Ank3 A T 10: 69,822,785 (GRCm39) T485S probably benign Het
Caly G A 7: 139,652,503 (GRCm39) R82C probably damaging Het
Cfhr2 A G 1: 139,786,343 (GRCm39) L8P probably damaging Het
Cpeb2 T A 5: 43,438,775 (GRCm39) L869* probably null Het
Cxxc1 A G 18: 74,350,331 (GRCm39) K33E possibly damaging Het
Cyp17a1 T C 19: 46,659,533 (GRCm39) probably null Het
Cyp4a30b G A 4: 115,309,976 (GRCm39) W59* probably null Het
Dennd4b T C 3: 90,185,172 (GRCm39) V1204A probably damaging Het
Dpyd T A 3: 118,935,565 (GRCm39) D663E possibly damaging Het
Esrrg A T 1: 187,933,205 (GRCm39) probably benign Het
Exoc2 A C 13: 31,090,822 (GRCm39) L261V probably damaging Het
Exosc9 T C 3: 36,609,662 (GRCm39) L185S probably damaging Het
Gcnt3 T C 9: 69,941,728 (GRCm39) K280R probably benign Het
Ighv1-64 A T 12: 115,471,217 (GRCm39) M100K probably benign Het
Impdh2 G A 9: 108,441,978 (GRCm39) probably null Het
Itsn2 T A 12: 4,721,474 (GRCm39) I1068K probably damaging Het
Kif5c T C 2: 49,584,783 (GRCm39) C169R probably damaging Het
Kndc1 A G 7: 139,490,130 (GRCm39) S211G probably benign Het
Lama2 T A 10: 27,066,530 (GRCm39) E1117V probably damaging Het
Lgals4 C T 7: 28,540,921 (GRCm39) R282C probably damaging Het
Lsg1 T A 16: 30,399,865 (GRCm39) probably null Het
Mab21l4 C T 1: 93,082,208 (GRCm39) probably null Het
Msh3 A G 13: 92,411,374 (GRCm39) S608P possibly damaging Het
Mslnl T A 17: 25,964,062 (GRCm39) F464I probably benign Het
Mycbp2 T A 14: 103,460,586 (GRCm39) K1493N probably damaging Het
Myo15a A T 11: 60,401,679 (GRCm39) probably null Het
Myo1b A T 1: 51,794,896 (GRCm39) F1065I probably benign Het
Nf1 A G 11: 79,345,136 (GRCm39) probably benign Het
Nup153 C A 13: 46,881,027 (GRCm39) probably benign Het
Or4f4-ps1 T A 2: 111,330,497 (GRCm39) I300K probably damaging Het
Or5b97 A G 19: 12,878,274 (GRCm39) V290A possibly damaging Het
Osbpl7 A G 11: 96,943,194 (GRCm39) T149A probably benign Het
Parp1 A G 1: 180,396,690 (GRCm39) D31G probably benign Het
Pcdha6 T A 18: 37,101,203 (GRCm39) V132E possibly damaging Het
Pcdhb8 T A 18: 37,489,975 (GRCm39) L551Q possibly damaging Het
Pcsk9 T A 4: 106,311,808 (GRCm39) T190S probably damaging Het
Pdgfrb A T 18: 61,197,049 (GRCm39) T162S probably benign Het
Pi4ka C T 16: 17,136,234 (GRCm39) R908Q Het
Prrc2c A T 1: 162,537,127 (GRCm39) S643T unknown Het
Rnf20 T G 4: 49,655,964 (GRCm39) I970S possibly damaging Het
Robo2 A T 16: 73,755,247 (GRCm39) V758D probably damaging Het
Robo4 G A 9: 37,319,577 (GRCm39) S609N possibly damaging Het
Rrbp1 G A 2: 143,830,920 (GRCm39) Q416* probably null Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Ryr2 C A 13: 11,701,833 (GRCm39) E2941D probably damaging Het
Scd2 G T 19: 44,289,743 (GRCm39) C246F probably benign Het
Sh3rf1 G A 8: 61,825,687 (GRCm39) V561I probably benign Het
Slc4a4 T A 5: 89,280,301 (GRCm39) D366E probably damaging Het
Slfn14 T G 11: 83,174,715 (GRCm39) Q92P probably damaging Het
Slfn4 A T 11: 83,077,770 (GRCm39) Y186F probably damaging Het
Smpd4 T C 16: 17,453,410 (GRCm39) L309P possibly damaging Het
Smyd3 G T 1: 178,920,482 (GRCm39) N217K probably benign Het
Spen T C 4: 141,197,129 (GRCm39) T3547A probably benign Het
Suclg1 A T 6: 73,253,729 (GRCm39) I126F unknown Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Tmprss15 A T 16: 78,798,702 (GRCm39) I660N possibly damaging Het
Trf A T 9: 103,087,723 (GRCm39) V677D probably damaging Het
Trim36 T C 18: 46,302,452 (GRCm39) N532S probably benign Het
Trim37 T C 11: 87,037,885 (GRCm39) probably null Het
Ttn T C 2: 76,570,454 (GRCm39) N26813S probably benign Het
Vmn1r199 T A 13: 22,567,537 (GRCm39) V277D probably damaging Het
Wdfy3 T C 5: 102,077,951 (GRCm39) D873G probably benign Het
Wdr27 T C 17: 15,103,929 (GRCm39) T726A probably damaging Het
Wdr97 T C 15: 76,240,775 (GRCm39) Y488H Het
Wdtc1 A T 4: 133,031,511 (GRCm39) C236* probably null Het
Wnk4 A C 11: 101,167,092 (GRCm39) S1083R unknown Het
Wwc1 A T 11: 35,774,234 (GRCm39) I342N probably damaging Het
Zbtb40 A G 4: 136,725,957 (GRCm39) L534P probably damaging Het
Zfp62 T C 11: 49,108,227 (GRCm39) C773R probably damaging Het
Zfp709 T A 8: 72,643,027 (GRCm39) I152N probably benign Het
Zfp738 T C 13: 67,819,550 (GRCm39) Y147C probably damaging Het
Zscan18 A C 7: 12,503,625 (GRCm39) S645A probably benign Het
Zw10 A G 9: 48,988,861 (GRCm39) Y709C probably damaging 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
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
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'- CAGCCTTTTCCATTACACATACGG -3'
(R):5'- AGACACTTCCTGTTCTTCGGG -3'

Sequencing Primer
(F):5'- CATACGGTATAACCACCAGATTTG -3'
(R):5'- GCGGACTCTTGGGATCAGAC -3'
Posted On 2021-03-08