Incidental Mutation 'IGL02425:Napepld'
ID 292876
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Napepld
Ensembl Gene ENSMUSG00000044968
Gene Name N-acyl phosphatidylethanolamine phospholipase D
Synonyms NAPE-PLD
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02425
Quality Score
Status
Chromosome 5
Chromosomal Location 21867899-21906394 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21888440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 3 (E3G)
Ref Sequence ENSEMBL: ENSMUSP00000110872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060899] [ENSMUST00000115217]
AlphaFold Q8BH82
Predicted Effect probably benign
Transcript: ENSMUST00000060899
AA Change: E3G

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000054458
Gene: ENSMUSG00000044968
AA Change: E3G

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 probably benign
Transcript: ENSMUST00000115217
AA Change: E3G

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000110872
Gene: ENSMUSG00000044968
AA Change: E3G

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
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
8430423G03Rik A G 5: 148,887,472 (GRCm39) probably benign Het
Adam4 C T 12: 81,468,102 (GRCm39) R173H probably benign Het
Akap12 A G 10: 4,306,034 (GRCm39) E948G possibly damaging Het
Akr1c12 T C 13: 4,323,749 (GRCm39) Y184C probably damaging Het
Avil T C 10: 126,854,316 (GRCm39) V761A probably benign Het
Bahd1 T A 2: 118,749,645 (GRCm39) F480L probably benign Het
Bicral T C 17: 47,119,380 (GRCm39) T714A probably benign Het
Cert1 T C 13: 96,746,390 (GRCm39) I263T probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2d34 C T 15: 82,502,480 (GRCm39) V219I probably benign Het
Dsn1 A G 2: 156,838,667 (GRCm39) V316A probably damaging Het
Errfi1 T A 4: 150,950,813 (GRCm39) F80L probably benign Het
Fam221b A G 4: 43,660,642 (GRCm39) probably null Het
Fgd6 G A 10: 93,910,064 (GRCm39) G790R probably benign Het
Fn1 T C 1: 71,680,302 (GRCm39) probably benign Het
Gldn T A 9: 54,246,005 (GRCm39) Y519N probably damaging Het
Il18r1 T C 1: 40,530,381 (GRCm39) probably benign Het
Itpr2 A G 6: 146,292,819 (GRCm39) V380A probably damaging Het
Kcnab1 T C 3: 65,209,600 (GRCm39) Y154H possibly damaging Het
Lama1 T C 17: 68,118,480 (GRCm39) V2564A probably benign Het
Lca5 T C 9: 83,281,774 (GRCm39) T337A probably damaging Het
Lrp1 A G 10: 127,407,756 (GRCm39) probably null Het
Moxd1 A G 10: 24,155,334 (GRCm39) N245S probably benign Het
Nr1d2 T C 14: 18,222,011 (GRCm38) T87A probably benign Het
Nudt4 T A 10: 95,385,245 (GRCm39) T149S probably benign Het
Rad18 A T 6: 112,597,859 (GRCm39) D219E probably damaging Het
Ryr2 T C 13: 11,760,560 (GRCm39) I1508V probably damaging Het
Setx G A 2: 29,038,420 (GRCm39) S1635N probably benign Het
Slc6a19 A G 13: 73,839,919 (GRCm39) V121A probably benign Het
Snapc4 T C 2: 26,258,212 (GRCm39) D736G probably damaging Het
Spink5 T C 18: 44,123,811 (GRCm39) probably null Het
Strip1 T C 3: 107,521,962 (GRCm39) I739V probably benign Het
Tmem161a T C 8: 70,629,577 (GRCm39) probably null Het
Top1mt T C 15: 75,547,970 (GRCm39) T39A probably benign Het
Trpm1 T C 7: 63,890,175 (GRCm39) M926T probably damaging Het
Ttn T A 2: 76,587,624 (GRCm39) K19744* probably null Het
Vmn2r26 A G 6: 124,038,777 (GRCm39) E784G probably damaging Het
Wnk1 A G 6: 119,940,415 (GRCm39) F774S probably damaging Het
Zfp317 T A 9: 19,554,909 (GRCm39) Y101* probably null 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
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
R5794:Napepld UTSW 5 21,888,429 (GRCm39) missense possibly damaging 0.93
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
Posted On 2015-04-16