Incidental Mutation 'R0801:Pnpla5'
ID 76296
Institutional Source Beutler Lab
Gene Symbol Pnpla5
Ensembl Gene ENSMUSG00000018868
Gene Name patatin-like phospholipase domain containing 5
Synonyms GS2L, 4833426H19Rik
MMRRC Submission 038981-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R0801 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 83996557-84007376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83998121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 374 (M374V)
Ref Sequence ENSEMBL: ENSMUSP00000155268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019012] [ENSMUST00000230566]
AlphaFold Q32LZ8
Predicted Effect probably benign
Transcript: ENSMUST00000019012
AA Change: M374V

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000019012
Gene: ENSMUSG00000018868
AA Change: M374V

DomainStartEndE-ValueType
Pfam:Patatin 12 180 2.6e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000230566
AA Change: M374V

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.1179 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.2%
  • 10x: 97.6%
  • 20x: 94.7%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the patatin-like phospholipase family; its encoded protein has been shown to inhibit transacylation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik A G 10: 43,050,987 (GRCm39) K94E possibly damaging Het
Aldh16a1 A T 7: 44,796,900 (GRCm39) C228S probably benign Het
Arnt G T 3: 95,401,157 (GRCm39) R702L possibly damaging Het
Ccdc174 A G 6: 91,872,313 (GRCm39) E314G possibly damaging Het
Ccdc81 T C 7: 89,536,866 (GRCm39) probably null Het
Ccdc92 T C 5: 124,913,335 (GRCm39) T65A probably benign Het
Cenpm A T 15: 82,118,667 (GRCm39) I149N probably benign Het
Cfap44 C T 16: 44,242,849 (GRCm39) S751L probably benign Het
Cntrl A G 2: 35,065,107 (GRCm39) probably benign Het
Col1a2 A G 6: 4,531,316 (GRCm39) T762A unknown Het
Crebbp T C 16: 3,906,140 (GRCm39) K1621E probably damaging Het
Cux1 T A 5: 136,355,783 (GRCm39) I374L probably damaging Het
Dgkq A T 5: 108,808,586 (GRCm39) probably null Het
Dis3l T C 9: 64,226,436 (GRCm39) I365V probably benign Het
Dock2 T C 11: 34,599,620 (GRCm39) R320G probably damaging Het
Dst A G 1: 34,209,470 (GRCm39) N853S probably damaging Het
Egf T C 3: 129,496,234 (GRCm39) probably benign Het
Eif2ak2 T A 17: 79,173,778 (GRCm39) R267* probably null Het
Ern2 A G 7: 121,780,085 (GRCm39) probably benign Het
Ero1b A G 13: 12,596,568 (GRCm39) S123G probably benign Het
Fam13a G T 6: 58,960,997 (GRCm39) N118K probably benign Het
Gcn1 T A 5: 115,729,065 (GRCm39) M792K probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Irf3 C T 7: 44,650,058 (GRCm39) probably benign Het
Map2k5 T A 9: 63,265,261 (GRCm39) probably benign Het
Mcf2l T A 8: 13,064,020 (GRCm39) probably benign Het
Mdga2 A T 12: 66,533,507 (GRCm39) I878K probably damaging Het
Mdn1 T C 4: 32,668,895 (GRCm39) S318P probably benign Het
Or13a19 G A 7: 139,902,831 (GRCm39) C73Y probably damaging Het
Or5aq1b G A 2: 86,902,407 (GRCm39) Q24* probably null Het
Pklr G A 3: 89,052,829 (GRCm39) W527* probably null Het
Ptprn G T 1: 75,228,909 (GRCm39) H835Q probably damaging Het
R3hdm4 A G 10: 79,749,191 (GRCm39) probably benign Het
Rgs8 T A 1: 153,546,557 (GRCm39) C19S probably damaging Het
Smarca4 C A 9: 21,553,850 (GRCm39) Q575K possibly damaging Het
Srgap1 A T 10: 121,643,780 (GRCm39) F612L probably damaging Het
Svil A G 18: 5,099,443 (GRCm39) R1256G probably benign Het
Tox4 T C 14: 52,517,335 (GRCm39) S22P probably benign Het
Ttc39d A G 17: 80,523,644 (GRCm39) Y101C probably damaging Het
Usb1 T C 8: 96,060,168 (GRCm39) probably null Het
Vps13a T C 19: 16,664,020 (GRCm39) probably benign Het
Vps26a G A 10: 62,294,857 (GRCm39) probably benign Het
Zfp638 T A 6: 83,949,220 (GRCm39) probably benign Het
Other mutations in Pnpla5
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4151001:Pnpla5 UTSW 15 84,002,827 (GRCm39) missense probably damaging 1.00
R0038:Pnpla5 UTSW 15 84,006,714 (GRCm39) missense probably damaging 1.00
R0038:Pnpla5 UTSW 15 84,006,714 (GRCm39) missense probably damaging 1.00
R0135:Pnpla5 UTSW 15 83,998,150 (GRCm39) missense probably damaging 1.00
R0321:Pnpla5 UTSW 15 84,004,920 (GRCm39) missense probably damaging 1.00
R0322:Pnpla5 UTSW 15 84,004,920 (GRCm39) missense probably damaging 1.00
R0384:Pnpla5 UTSW 15 84,004,920 (GRCm39) missense probably damaging 1.00
R0385:Pnpla5 UTSW 15 84,004,920 (GRCm39) missense probably damaging 1.00
R0386:Pnpla5 UTSW 15 84,004,920 (GRCm39) missense probably damaging 1.00
R6410:Pnpla5 UTSW 15 84,004,880 (GRCm39) missense probably damaging 1.00
R6425:Pnpla5 UTSW 15 84,006,836 (GRCm39) splice site probably null
R6523:Pnpla5 UTSW 15 83,999,912 (GRCm39) missense possibly damaging 0.49
R8790:Pnpla5 UTSW 15 84,002,819 (GRCm39) missense probably damaging 1.00
R9030:Pnpla5 UTSW 15 83,998,087 (GRCm39) missense possibly damaging 0.76
Z1088:Pnpla5 UTSW 15 84,007,272 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TAGATCCCAGATACCGGATGGCAC -3'
(R):5'- AGATGATCTTGCTCAACCTGGGCAC -3'

Sequencing Primer
(F):5'- GGACACTAGATGGATACTGTGC -3'
(R):5'- TCAACCTGGGCACTCAGC -3'
Posted On 2013-10-16