Incidental Mutation 'R6425:Pnpla5'
ID 518307
Institutional Source Beutler Lab
Gene Symbol Pnpla5
Ensembl Gene ENSMUSG00000018868
Gene Name patatin-like phospholipase domain containing 5
Synonyms GS2L, 4833426H19Rik
MMRRC Submission 044564-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6425 (G1)
Quality Score 196.009
Status Validated
Chromosome 15
Chromosomal Location 83996557-84007376 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 84006836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019012] [ENSMUST00000230566]
AlphaFold Q32LZ8
Predicted Effect probably null
Transcript: ENSMUST00000019012
SMART Domains Protein: ENSMUSP00000019012
Gene: ENSMUSG00000018868

DomainStartEndE-ValueType
Pfam:Patatin 12 180 2.6e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000230566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231019
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (41/41)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,220,058 (GRCm39) T3A possibly damaging Het
Ash1l A G 3: 88,891,087 (GRCm39) T989A probably damaging Het
Atp6v0a2 T A 5: 124,790,194 (GRCm39) L459Q probably damaging Het
Atp6v0a4 A T 6: 38,027,446 (GRCm39) V788D possibly damaging Het
Auh G A 13: 52,995,080 (GRCm39) R162C probably damaging Het
Begain C A 12: 108,999,320 (GRCm39) G689C probably damaging Het
Brcc3dc A C 10: 108,535,757 (GRCm39) M66R possibly damaging Het
Cd300lg T C 11: 101,937,749 (GRCm39) F193S probably benign Het
Cenpf T G 1: 189,392,095 (GRCm39) N579T probably benign Het
Cfap65 T C 1: 74,966,868 (GRCm39) H273R probably benign Het
Col6a6 T C 9: 105,576,064 (GRCm39) T2099A probably benign Het
Dock1 A G 7: 134,765,110 (GRCm39) K1701E possibly damaging Het
Dtl T C 1: 191,278,735 (GRCm39) I376V probably benign Het
F830045P16Rik C A 2: 129,302,500 (GRCm39) C364F probably damaging Het
Fancl C T 11: 26,349,680 (GRCm39) L63F probably damaging Het
Gli2 A T 1: 118,763,624 (GRCm39) L1509* probably null Het
Glyr1 A T 16: 4,854,350 (GRCm39) probably null Het
Igkv6-32 A T 6: 70,051,284 (GRCm39) M24K probably damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Klhl18 T C 9: 110,275,749 (GRCm39) E133G possibly damaging Het
Lgals4 A T 7: 28,533,885 (GRCm39) K20* probably null Het
Myo9b A G 8: 71,786,272 (GRCm39) D646G probably damaging Het
Pcdhb3 T C 18: 37,435,528 (GRCm39) L498P possibly damaging Het
Pcdhgb4 T C 18: 37,854,640 (GRCm39) V345A possibly damaging Het
Pdc T C 1: 150,209,123 (GRCm39) V202A probably benign Het
Pfas T C 11: 68,881,897 (GRCm39) I929M probably benign Het
Plxna1 G T 6: 89,311,647 (GRCm39) R953S probably benign Het
Psmd1 T C 1: 85,998,350 (GRCm39) probably null Het
Rbm47 C T 5: 66,180,159 (GRCm39) G452S probably damaging Het
Reln G A 5: 22,116,018 (GRCm39) Q2997* probably null Het
Rrn3 A G 16: 13,629,465 (GRCm39) T594A probably benign Het
Slc25a35 G A 11: 68,859,591 (GRCm39) A35T possibly damaging Het
Slc33a1 A G 3: 63,871,484 (GRCm39) V43A probably benign Het
Sorcs3 T C 19: 48,752,746 (GRCm39) probably null Het
Tbk1 A G 10: 121,399,867 (GRCm39) M319T probably benign Het
Tmem132c T A 5: 127,630,329 (GRCm39) M622K possibly damaging Het
Tshz1 A T 18: 84,033,688 (GRCm39) F240Y probably damaging Het
Ube2b A T 11: 51,882,244 (GRCm39) L73* probably null Het
Vipas39 A G 12: 87,288,063 (GRCm39) V449A probably damaging Het
Zfp870 T C 17: 33,102,045 (GRCm39) N429S possibly damaging 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
R0801:Pnpla5 UTSW 15 83,998,121 (GRCm39) missense probably benign 0.45
R6410:Pnpla5 UTSW 15 84,004,880 (GRCm39) missense probably damaging 1.00
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'- AGGCTAGAATATGGCAGTTGTCAG -3'
(R):5'- CTTTGAATCTGAGGACCCCTGC -3'

Sequencing Primer
(F):5'- GGCAGTTGTCAGGAAGATTTTCATAC -3'
(R):5'- CTATCTCTAAAGATGGGATCCTGGC -3'
Posted On 2018-05-24