Incidental Mutation 'R4411:Pnpla8'
ID 327930
Institutional Source Beutler Lab
Gene Symbol Pnpla8
Ensembl Gene ENSMUSG00000036257
Gene Name patatin-like phospholipase domain containing 8
Synonyms 1200006O19Rik, iPLA2 gamma
MMRRC Submission 041693-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R4411 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 44315916-44362718 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44330225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 41 (V41A)
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: V259A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043286
Gene: ENSMUSG00000036257
AA Change: V259A

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: V41A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120877
Gene: ENSMUSG00000036257
AA Change: V41A

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: V259A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122560
Gene: ENSMUSG00000036257
AA Change: V259A

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: V41A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0590 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 95% (62/65)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,042,781 (GRCm39) I423V probably benign Het
Abl2 T C 1: 156,457,652 (GRCm39) V306A possibly damaging Het
Adcy4 T C 14: 56,006,900 (GRCm39) Y1006C probably damaging Het
Adprhl1 T C 8: 13,296,114 (GRCm39) K144E probably benign Het
Arid5b T C 10: 67,932,519 (GRCm39) R885G probably damaging Het
Atp9a A T 2: 168,503,853 (GRCm39) V613E probably damaging Het
Atxn7l1 G T 12: 33,244,886 (GRCm39) probably benign Het
Brd8 C A 18: 34,756,497 (GRCm39) probably benign Het
Bsnd C T 4: 106,343,868 (GRCm39) R146H probably benign Het
C4b C T 17: 34,947,838 (GRCm39) R1659H probably damaging Het
Duox1 G A 2: 122,168,115 (GRCm39) R1080H probably benign Het
Eml2 T C 7: 18,916,326 (GRCm39) probably null Het
Fbxo44 G A 4: 148,238,065 (GRCm39) R221C probably damaging Het
Frem1 T C 4: 82,881,481 (GRCm39) D166G probably damaging Het
Galnt5 T C 2: 57,889,207 (GRCm39) L269P probably benign Het
Gigyf2 A G 1: 87,364,582 (GRCm39) E954G probably damaging Het
Gpc6 T C 14: 118,188,590 (GRCm39) V408A probably benign Het
Hspg2 A G 4: 137,289,535 (GRCm39) T3832A probably benign Het
Ift88 A G 14: 57,715,436 (GRCm39) N493S probably damaging Het
Ighv1-76 A T 12: 115,811,731 (GRCm39) C41S probably damaging Het
Igkv12-46 G A 6: 69,741,930 (GRCm39) T16I probably benign Het
Igkv3-9 G T 6: 70,565,547 (GRCm39) V49F probably damaging Het
Isoc2b A T 7: 4,852,433 (GRCm39) probably benign Het
Lcp2 T A 11: 34,037,173 (GRCm39) probably benign Het
Lmntd1 A G 6: 145,373,003 (GRCm39) probably null Het
Mdm2 A T 10: 117,545,694 (GRCm39) probably null Het
Mrgprx3-ps T C 7: 46,959,746 (GRCm39) noncoding transcript Het
Msh2 T C 17: 88,025,032 (GRCm39) S637P probably damaging Het
Myo5b T C 18: 74,831,345 (GRCm39) F765S possibly damaging Het
Nav2 T A 7: 49,047,857 (GRCm39) N91K probably benign Het
Ndor1 G A 2: 25,138,492 (GRCm39) P363S probably benign Het
Npr3 G C 15: 11,905,235 (GRCm39) T164R probably benign Het
Pcdhb5 T C 18: 37,455,050 (GRCm39) S477P possibly damaging Het
Pde3b GTGATGATGATGATGATGATGATGATG GTGATGATGATGATGATGATGATG 7: 114,133,984 (GRCm39) probably benign Het
Pnpla7 G A 2: 24,941,716 (GRCm39) W13* probably null Het
Prdm2 A T 4: 142,860,240 (GRCm39) S1017T probably benign Het
Prdm5 T A 6: 65,878,771 (GRCm39) Y108* probably null Het
Rab34 T A 11: 78,079,592 (GRCm39) probably null Het
Skic3 A G 13: 76,275,623 (GRCm39) E410G possibly damaging Het
Smpd5 G T 15: 76,179,112 (GRCm39) R160L possibly damaging Het
Spmip10 A G 18: 56,727,720 (GRCm39) T65A probably benign Het
Srrm2 A G 17: 24,029,442 (GRCm39) probably benign Het
Taf5 T A 19: 47,059,453 (GRCm39) V199D probably damaging Het
Tas2r114 C T 6: 131,666,585 (GRCm39) V148I probably benign Het
Tas2r136 C A 6: 132,754,972 (GRCm39) V52L probably damaging Het
Tnfrsf25 G A 4: 152,202,843 (GRCm39) probably benign Het
Tpd52l1 T C 10: 31,255,315 (GRCm39) T11A possibly damaging Het
Trmt1l G A 1: 151,327,905 (GRCm39) E472K probably benign Het
Ttc17 T C 2: 94,173,098 (GRCm39) K766E probably damaging Het
Ttn C T 2: 76,560,633 (GRCm39) R29256Q probably damaging Het
Ttn T C 2: 76,572,414 (GRCm39) I26160V probably damaging Het
Ubxn6 A T 17: 56,376,303 (GRCm39) V311E probably damaging Het
Usp2 T C 9: 44,002,360 (GRCm39) S351P probably damaging Het
Usp7 C A 16: 8,526,778 (GRCm39) D187Y probably damaging Het
Vmn1r115 C T 7: 20,578,207 (GRCm39) R235K probably benign Het
Vmn2r50 A C 7: 9,784,235 (GRCm39) F80V probably damaging Het
Vmn2r58 T A 7: 41,511,360 (GRCm39) K481M possibly damaging Het
Vmn2r86 A G 10: 130,288,469 (GRCm39) I344T possibly damaging Het
Zfp455 A T 13: 67,355,389 (GRCm39) N219I 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
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'- CAGCCTTTTCCATTACACATACGG -3'
(R):5'- AGACACTTCCTGTTCTTCGGG -3'

Sequencing Primer
(F):5'- CATACGGTATAACCACCAGATTTG -3'
(R):5'- GCGGACTCTTGGGATCAGAC -3'
Posted On 2015-07-07