Incidental Mutation 'R5794:Napepld'
ID 447113
Institutional Source Beutler Lab
Gene Symbol Napepld
Ensembl Gene ENSMUSG00000044968
Gene Name N-acyl phosphatidylethanolamine phospholipase D
Synonyms NAPE-PLD
MMRRC Submission 043385-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5794 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 21867899-21906394 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21888429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 7 (S7C)
Ref Sequence ENSEMBL: ENSMUSP00000110872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060899] [ENSMUST00000115217]
AlphaFold Q8BH82
Predicted Effect possibly damaging
Transcript: ENSMUST00000060899
AA Change: S7C

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054458
Gene: ENSMUSG00000044968
AA Change: S7C

DomainStartEndE-ValueType
low complexity region 25 45 N/A INTRINSIC
Pfam:Lactamase_B_3 126 343 1.5e-14 PFAM
Pfam:Lactamase_B_2 142 344 2.7e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115217
AA Change: S7C

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110872
Gene: ENSMUSG00000044968
AA Change: S7C

DomainStartEndE-ValueType
low complexity region 25 45 N/A INTRINSIC
Pfam:Lactamase_B_3 126 343 1.3e-13 PFAM
Pfam:Lactamase_B_2 142 344 1.4e-39 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NAPEPLD is a phospholipase D type enzyme that catalyzes the release of N-acylethanolamine (NAE) from N-acyl-phosphatidylethanolamine (NAPE) in the second step of the biosynthesis of N-acylethanolamine (Okamoto et al., 2004 [PubMed 14634025]).[supplied by OMIM, Oct 2008]
PHENOTYPE: Mice homozygous for a null mutation are viable and healthy, but have abnormal brain levels of N-acyl ethanolamines and N-acyl phosphatidylethanolamines. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aftph T C 11: 20,676,955 (GRCm39) probably null Het
Ank2 T C 3: 126,723,669 (GRCm39) N923S probably benign Het
Ano6 A T 15: 95,792,405 (GRCm39) T76S probably benign Het
Carmil1 G T 13: 24,276,533 (GRCm39) N204K probably damaging Het
Cep126 T G 9: 8,103,440 (GRCm39) N190T possibly damaging Het
Clasrp A T 7: 19,325,034 (GRCm39) D198E probably damaging Het
Cma1 T C 14: 56,181,977 (GRCm39) T18A probably benign Het
Ece1 A G 4: 137,683,844 (GRCm39) I565M probably damaging Het
Etl4 T A 2: 20,811,323 (GRCm39) F1135L probably damaging Het
Fbxw20 T C 9: 109,052,358 (GRCm39) N325S probably damaging Het
Fbxw20 A T 9: 109,062,668 (GRCm39) C53S possibly damaging Het
Gnb2 T C 5: 137,526,961 (GRCm39) D203G probably benign Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hoxd9 T A 2: 74,529,617 (GRCm39) F291Y probably damaging Het
Igf2r T C 17: 12,928,332 (GRCm39) S1004G probably benign Het
Irgm1 T C 11: 48,757,064 (GRCm39) Y249C probably damaging Het
Kcnh3 A C 15: 99,130,855 (GRCm39) I491L probably benign Het
Kctd10 G A 5: 114,505,398 (GRCm39) R199W probably damaging Het
Klk1b4 A T 7: 43,859,069 (GRCm39) N29I probably damaging Het
Klrc1 C T 6: 129,652,317 (GRCm39) R188Q probably damaging Het
Krt32 C A 11: 99,975,812 (GRCm39) C275F probably damaging Het
Krt73 T A 15: 101,703,264 (GRCm39) T449S probably benign Het
Nfia G T 4: 97,671,838 (GRCm39) V183L possibly damaging Het
Or5g27 T C 2: 85,409,685 (GRCm39) V34A probably benign Het
Or6c3 A C 10: 129,309,295 (GRCm39) I245L possibly damaging Het
Psma3 A G 12: 71,037,271 (GRCm39) T111A probably benign Het
Psmd11 T A 11: 80,362,318 (GRCm39) D125E probably benign Het
Rabgap1 T A 2: 37,392,914 (GRCm39) D523E probably benign Het
Rttn G T 18: 89,013,693 (GRCm39) R454L probably benign Het
Serpine2 T C 1: 79,799,156 (GRCm39) N33D probably benign Het
Six4 A T 12: 73,159,124 (GRCm39) S271T possibly damaging Het
Smoc2 T A 17: 14,589,310 (GRCm39) C260S possibly damaging Het
Snai2 A T 16: 14,524,590 (GRCm39) Y32F probably benign Het
Tapt1 C T 5: 44,334,476 (GRCm39) G505D probably benign Het
Thap12 T A 7: 98,365,600 (GRCm39) D589E probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r116 T C 17: 23,604,942 (GRCm39) I85T probably damaging Het
Zfp592 G T 7: 80,674,781 (GRCm39) V582L probably benign Het
Zfp827 T C 8: 79,797,071 (GRCm39) W386R probably damaging Het
Other mutations in Napepld
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Napepld APN 5 21,888,191 (GRCm39) missense probably benign 0.11
IGL01659:Napepld APN 5 21,880,714 (GRCm39) missense probably damaging 0.99
IGL01726:Napepld APN 5 21,880,657 (GRCm39) missense possibly damaging 0.93
IGL02083:Napepld APN 5 21,881,065 (GRCm39) missense probably damaging 1.00
IGL02425:Napepld APN 5 21,888,440 (GRCm39) missense probably benign 0.19
R1763:Napepld UTSW 5 21,888,408 (GRCm39) missense probably benign 0.00
R1903:Napepld UTSW 5 21,870,270 (GRCm39) missense probably damaging 0.97
R2166:Napepld UTSW 5 21,888,230 (GRCm39) missense possibly damaging 0.48
R3861:Napepld UTSW 5 21,888,287 (GRCm39) missense probably benign 0.32
R4899:Napepld UTSW 5 21,888,438 (GRCm39) missense probably benign 0.00
R5629:Napepld UTSW 5 21,880,901 (GRCm39) missense probably benign 0.01
R6273:Napepld UTSW 5 21,870,320 (GRCm39) missense probably benign 0.01
R7619:Napepld UTSW 5 21,880,846 (GRCm39) missense probably damaging 1.00
R7810:Napepld UTSW 5 21,888,263 (GRCm39) missense possibly damaging 0.86
R7846:Napepld UTSW 5 21,880,721 (GRCm39) missense probably benign 0.13
R7852:Napepld UTSW 5 21,888,171 (GRCm39) missense probably benign 0.00
R8050:Napepld UTSW 5 21,870,319 (GRCm39) missense probably benign 0.00
R9348:Napepld UTSW 5 21,875,490 (GRCm39) missense probably benign 0.06
R9617:Napepld UTSW 5 21,875,561 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGAGCACATTCGGGATGGAG -3'
(R):5'- GTTTTGCAGCCAGAAGTTTTGAATC -3'

Sequencing Primer
(F):5'- GTTGGCCATGGGTTAACAAATCTCC -3'
(R):5'- GCAGCCAGAAGTTTTGAATCAATAC -3'
Posted On 2016-12-15