Incidental Mutation 'R6983:Pnpla8'
ID 542804
Institutional Source Beutler Lab
Gene Symbol Pnpla8
Ensembl Gene ENSMUSG00000036257
Gene Name patatin-like phospholipase domain containing 8
Synonyms 1200006O19Rik, iPLA2 gamma
MMRRC Submission 045090-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R6983 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 44315916-44362718 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44330030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 194 (I194K)
Ref Sequence ENSEMBL: ENSMUSP00000043286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043082] [ENSMUST00000122902] [ENSMUST00000125757] [ENSMUST00000143771] [ENSMUST00000218954]
AlphaFold Q8K1N1
Predicted Effect possibly damaging
Transcript: ENSMUST00000043082
AA Change: I194K

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043286
Gene: ENSMUSG00000036257
AA Change: I194K

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
SMART Domains Protein: ENSMUSP00000120877
Gene: ENSMUSG00000036257

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 possibly damaging
Transcript: ENSMUST00000143771
AA Change: I194K

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000122560
Gene: ENSMUSG00000036257
AA Change: I194K

DomainStartEndE-ValueType
SCOP:d1gw5a_ 332 430 3e-3 SMART
Pfam:Patatin 439 658 7.3e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218954
Meta Mutation Damage Score 0.2721 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (65/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,953,686 (GRCm39) V530A probably benign Het
Adgrg6 T C 10: 14,307,439 (GRCm39) N816D probably damaging Het
Aebp2 T C 6: 140,583,389 (GRCm39) F288L possibly damaging Het
Afdn T C 17: 14,101,583 (GRCm39) S1024P probably damaging Het
Akap6 A C 12: 52,934,436 (GRCm39) K643Q probably damaging Het
Atg2a A T 19: 6,310,070 (GRCm39) D1751V probably damaging Het
Best2 T A 8: 85,736,405 (GRCm39) I253F probably benign Het
Bmp1 G T 14: 70,745,647 (GRCm39) P55T probably damaging Het
C1s1 C A 6: 124,517,855 (GRCm39) V42F possibly damaging Het
Ccdc115 A G 1: 34,478,122 (GRCm39) probably null Het
Cdc42bpg C T 19: 6,371,698 (GRCm39) P1326S probably damaging Het
Cdhr3 G A 12: 33,092,379 (GRCm39) T744I probably benign Het
Cit T G 5: 116,132,150 (GRCm39) L1745R probably damaging Het
Commd6 A T 14: 101,874,488 (GRCm39) S39T probably damaging Het
Crot T G 5: 9,028,280 (GRCm39) Y223S probably benign Het
Crybg1 G T 10: 43,875,338 (GRCm39) A590D probably damaging Het
Cwf19l2 G A 9: 3,477,817 (GRCm39) E841K probably damaging Het
Dennd4c T C 4: 86,717,730 (GRCm39) Y576H probably damaging Het
Diaph1 A T 18: 38,022,822 (GRCm39) V749E probably damaging Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
F5 A T 1: 164,021,698 (GRCm39) D1391V probably damaging Het
Foxf2 T A 13: 31,811,180 (GRCm39) M373K probably benign Het
Fstl1 A T 16: 37,651,980 (GRCm39) E287D probably benign Het
Gltpd2 T C 11: 70,411,110 (GRCm39) Y134H probably damaging Het
Hemgn T A 4: 46,395,997 (GRCm39) H413L possibly damaging Het
Herc2 G A 7: 55,756,201 (GRCm39) R747H possibly damaging Het
Hykk T C 9: 54,853,793 (GRCm39) S372P probably benign Het
Inava A G 1: 136,147,894 (GRCm39) S353P possibly damaging Het
Ints10 T C 8: 69,246,703 (GRCm39) V11A probably damaging Het
Khdrbs1 A G 4: 129,614,635 (GRCm39) V306A probably benign Het
Lamtor2 G A 3: 88,460,146 (GRCm39) Q9* probably null Het
Lonp2 T A 8: 87,350,876 (GRCm39) V22E probably damaging Het
Mad1l1 T C 5: 140,179,739 (GRCm39) E383G probably damaging Het
Man2b1 T A 8: 85,817,700 (GRCm39) probably null Het
Mtch1 T C 17: 29,557,750 (GRCm39) I243V probably damaging Het
Myo18a T A 11: 77,736,341 (GRCm39) M1546K probably benign Het
Ntf3 T C 6: 126,078,808 (GRCm39) T233A probably damaging Het
Omg T C 11: 79,392,764 (GRCm39) S365G probably benign Het
Or52ad1 C T 7: 102,996,022 (GRCm39) V38I probably benign Het
Otol1 T A 3: 69,935,374 (GRCm39) N455K probably damaging Het
Pakap T A 4: 57,709,973 (GRCm39) V306D probably damaging Het
Pde4dip A T 3: 97,625,552 (GRCm39) Y1349N probably damaging Het
Pitpnm2 A G 5: 124,271,469 (GRCm39) L368P probably damaging Het
Podn T C 4: 107,881,470 (GRCm39) probably null Het
Potefam1 A G 2: 111,058,595 (GRCm39) probably null Het
Pramel6 A T 2: 87,339,923 (GRCm39) E229V possibly damaging Het
Ptpro C T 6: 137,426,915 (GRCm39) P262L probably damaging Het
Rnf122 A T 8: 31,608,488 (GRCm39) T19S probably benign Het
Shank2 T A 7: 143,635,585 (GRCm39) Y320N possibly damaging Het
Slc2a9 A C 5: 38,549,064 (GRCm39) I243S probably damaging Het
Slc5a6 A T 5: 31,197,749 (GRCm39) M130K probably benign Het
Stx5a A G 19: 8,732,533 (GRCm39) probably benign Het
Tbr1 G T 2: 61,642,079 (GRCm39) G185V probably damaging Het
Tg A G 15: 66,565,207 (GRCm39) D1183G probably benign Het
Thbs1 A T 2: 117,950,433 (GRCm39) I689F probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Trub2 A T 2: 29,677,796 (GRCm39) probably benign Het
Ttn A G 2: 76,597,306 (GRCm39) V19869A probably damaging Het
Tufm T C 7: 126,088,607 (GRCm39) V303A possibly damaging Het
Vezf1 T C 11: 87,964,145 (GRCm39) I99T possibly damaging Het
Vmn2r1 T C 3: 63,989,118 (GRCm39) V19A probably benign Het
Xpc C T 6: 91,481,005 (GRCm39) R289K probably damaging Het
Zfp811 T A 17: 33,016,406 (GRCm39) K545* probably null Het
Zmiz2 G A 11: 6,352,413 (GRCm39) D623N 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
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'- CGGTTAGCTCAATTTAAGCCAAGTTC -3'
(R):5'- TAGGGGAGATTCCGAGTCTG -3'

Sequencing Primer
(F):5'- GCCAAGTTCTCGAATATTAAGAAAAG -3'
(R):5'- AGATTCCGAGTCTGGCCTGTC -3'
Posted On 2018-11-28