Incidental Mutation 'R6523:Pnpla5'
ID521553
Institutional Source Beutler Lab
Gene Symbol Pnpla5
Ensembl Gene ENSMUSG00000018868
Gene Namepatatin-like phospholipase domain containing 5
SynonymsGS2L, 4833426H19Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #R6523 (G1)
Quality Score225.009
Status Validated
Chromosome15
Chromosomal Location84112356-84123175 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 84115711 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 329 (R329L)
Ref Sequence ENSEMBL: ENSMUSP00000155268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019012] [ENSMUST00000230566]
Predicted Effect possibly damaging
Transcript: ENSMUST00000019012
AA Change: R329L

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000019012
Gene: ENSMUSG00000018868
AA Change: R329L

DomainStartEndE-ValueType
Pfam:Patatin 12 180 2.6e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000230566
AA Change: R329L

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 A G 1: 173,332,553 probably null Het
Alg2 A T 4: 47,472,071 S246T possibly damaging Het
Ankfy1 G A 11: 72,730,482 R198Q possibly damaging Het
Arid4a A G 12: 71,067,341 probably null Het
AU040320 G A 4: 126,868,760 probably null Het
B430306N03Rik A G 17: 48,319,165 T129A possibly damaging Het
Blvrb C A 7: 27,465,717 probably null Het
Ccdc175 T C 12: 72,144,791 N337S probably benign Het
Ccdc28b A C 4: 129,620,987 F110V probably damaging Het
Cd200 A G 16: 45,400,270 Y16H probably benign Het
Cfh T G 1: 140,101,707 E950A possibly damaging Het
Clec3a A T 8: 114,425,605 Y117F probably damaging Het
CN725425 A G 15: 91,231,581 S9G probably benign Het
Coasy T A 11: 101,086,118 W535R probably damaging Het
Cox4i1 T A 8: 120,672,741 S30R probably benign Het
Csnk1a1 G A 18: 61,555,758 S3N probably benign Het
Dcst2 C G 3: 89,373,501 L669V probably benign Het
Ddx58 T A 4: 40,205,947 T882S probably benign Het
Dnah14 A G 1: 181,643,621 I1346V probably benign Het
Fbxw24 G A 9: 109,604,980 R421* probably null Het
Fstl5 G A 3: 76,536,334 V329I probably benign Het
Gli3 T C 13: 15,713,650 probably null Het
Gm13128 T C 4: 144,331,648 V275A probably benign Het
Gna11 A T 10: 81,544,854 I25N probably damaging Het
Greb1 C T 12: 16,684,373 V1539I possibly damaging Het
Hipk3 T A 2: 104,439,408 T479S possibly damaging Het
Hspa1b A G 17: 34,957,191 I606T probably benign Het
Idnk T A 13: 58,163,643 F141L probably damaging Het
Ifit3 A G 19: 34,588,155 N367S probably benign Het
Kcnn1 A T 8: 70,846,525 D448E possibly damaging Het
Krt14 T C 11: 100,205,097 T212A possibly damaging Het
Ldlr G A 9: 21,737,253 C285Y probably damaging Het
Mark3 G A 12: 111,627,235 V234I probably damaging Het
Meikin T A 11: 54,398,501 Y233* probably null Het
Muc20 T C 16: 32,793,450 D519G possibly damaging Het
Nalcn T A 14: 123,317,843 H876L probably benign Het
Ncaph A T 2: 127,105,889 I698K probably damaging Het
Nipal1 A T 5: 72,667,608 I215F probably damaging Het
Nrde2 A T 12: 100,134,405 D607E possibly damaging Het
Nt5dc2 T C 14: 31,135,705 F217S probably damaging Het
Ntsr2 T A 12: 16,656,696 S156T probably benign Het
Olfr1464-ps1 A C 19: 13,282,364 D231E probably benign Het
Olfr271-ps1 A T 4: 52,935,500 I261N probably damaging Het
Olfr481 A C 7: 108,081,555 T254P probably benign Het
Pfas A T 11: 68,990,457 I1028K probably benign Het
Rhot2 A G 17: 25,839,420 V393A possibly damaging Het
Rnase9 T A 14: 51,039,227 Y98F possibly damaging Het
Sacs C A 14: 61,202,961 L819I probably damaging Het
Sall3 C T 18: 80,973,188 M508I possibly damaging Het
Scube3 G A 17: 28,162,388 C301Y probably damaging Het
Sgo2b G T 8: 63,927,504 H765N probably benign Het
Sh3gl1 A T 17: 56,017,617 Y344N possibly damaging Het
Slc15a2 A G 16: 36,752,321 V635A probably benign Het
Slc1a4 T A 11: 20,332,114 Y40F probably damaging Het
Slc4a10 A T 2: 62,286,961 K755* probably null Het
Slco1a5 C T 6: 142,266,395 G38R probably damaging Het
Snx25 T A 8: 46,055,855 D564V probably damaging Het
Soga1 G A 2: 157,060,343 Q251* probably null Het
Spon1 T A 7: 113,886,785 D189E probably benign Het
Sptbn5 T C 2: 120,065,614 probably null Het
Ssbp2 A G 13: 91,693,051 I317V probably benign Het
Stil AAGATTTCCAG A 4: 115,032,714 probably null Het
Strn3 A T 12: 51,643,098 probably null Het
Tcaf2 A T 6: 42,643,019 F25I probably benign Het
Themis C T 10: 28,781,898 T154I possibly damaging Het
Ttn T C 2: 76,796,046 R13176G probably damaging Het
Utp4 G A 8: 106,898,463 V125M probably damaging Het
Vmn1r119 T A 7: 21,011,852 M202L possibly damaging Het
Zfp292 G C 4: 34,816,301 F329L probably benign Het
Zfp541 C T 7: 16,095,520 P1281L probably damaging Het
Zfp616 A T 11: 74,083,142 Q79L possibly damaging Het
Other mutations in Pnpla5
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4151001:Pnpla5 UTSW 15 84118626 missense probably damaging 1.00
R0038:Pnpla5 UTSW 15 84122513 missense probably damaging 1.00
R0038:Pnpla5 UTSW 15 84122513 missense probably damaging 1.00
R0135:Pnpla5 UTSW 15 84113949 missense probably damaging 1.00
R0321:Pnpla5 UTSW 15 84120719 missense probably damaging 1.00
R0322:Pnpla5 UTSW 15 84120719 missense probably damaging 1.00
R0384:Pnpla5 UTSW 15 84120719 missense probably damaging 1.00
R0385:Pnpla5 UTSW 15 84120719 missense probably damaging 1.00
R0386:Pnpla5 UTSW 15 84120719 missense probably damaging 1.00
R0801:Pnpla5 UTSW 15 84113920 missense probably benign 0.45
R6410:Pnpla5 UTSW 15 84120679 missense probably damaging 1.00
R6425:Pnpla5 UTSW 15 84122635 intron probably null
Z1088:Pnpla5 UTSW 15 84123071 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTCTTTTGGTAGAGCCTACTCAG -3'
(R):5'- TGGAGATGCTGAGGTTCACATAC -3'

Sequencing Primer
(F):5'- TACTCAGGCACTCCATGGG -3'
(R):5'- GATGCTGAGGTTCACATACTATCTTC -3'
Posted On2018-06-06