Incidental Mutation 'R2166:Napepld'
ID 235484
Institutional Source Beutler Lab
Gene Symbol Napepld
Ensembl Gene ENSMUSG00000044968
Gene Name N-acyl phosphatidylethanolamine phospholipase D
Synonyms NAPE-PLD
MMRRC Submission 040169-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2166 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 21867899-21906394 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21888230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 73 (K73I)
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: K73I

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000054458
Gene: ENSMUSG00000044968
AA Change: K73I

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: K73I

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110872
Gene: ENSMUSG00000044968
AA Change: K73I

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
Meta Mutation Damage Score 0.1102 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (42/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,716,762 (GRCm39) F779I probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Birc6 A T 17: 74,942,790 (GRCm39) T2761S probably benign Het
Cav1 A T 6: 17,339,430 (GRCm39) I141F possibly damaging Het
Cmklr2 A G 1: 63,223,107 (GRCm39) F43L probably benign Het
Gm973 A G 1: 59,565,898 (GRCm39) D39G possibly damaging Het
Gucy1a2 T A 9: 3,579,513 (GRCm39) probably null Het
Il1b A T 2: 129,206,968 (GRCm39) M264K probably damaging Het
Itpr1 A G 6: 108,365,186 (GRCm39) Y38C probably damaging Het
Kcnb2 A C 1: 15,781,540 (GRCm39) D804A possibly damaging Het
Kcnt1 T A 2: 25,781,195 (GRCm39) probably benign Het
Krt6b T C 15: 101,587,050 (GRCm39) probably null Het
Mef2a A G 7: 66,915,870 (GRCm39) V144A probably damaging Het
Mroh3 A G 1: 136,113,791 (GRCm39) M666T probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nalcn T A 14: 123,607,363 (GRCm39) Y702F probably benign Het
Or5h23 T A 16: 58,905,949 (GRCm39) K299I probably benign Het
Or8g21 G A 9: 38,906,513 (GRCm39) Q73* probably null Het
Pappa A C 4: 65,074,682 (GRCm39) D412A probably damaging Het
Plbd1 A G 6: 136,590,788 (GRCm39) probably null Het
Ppp1r10 G T 17: 36,241,481 (GRCm39) R752L unknown Het
Prep T C 10: 44,968,751 (GRCm39) probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptprz1 A G 6: 23,045,632 (GRCm39) N2134S possibly damaging Het
Rhbdl3 A G 11: 80,210,523 (GRCm39) Y92C probably damaging Het
Rtkn2 T C 10: 67,877,526 (GRCm39) S532P possibly damaging Het
Rtl1 T A 12: 109,556,988 (GRCm39) H1617L probably damaging Het
Skint6 T A 4: 112,711,649 (GRCm39) N956I probably benign Het
Slc13a2 A G 11: 78,293,901 (GRCm39) V287A probably benign Het
Slc9a2 A G 1: 40,781,928 (GRCm39) K386E probably damaging Het
Spata20 G A 11: 94,369,930 (GRCm39) H789Y probably benign Het
Stk19 A G 17: 35,051,486 (GRCm39) I23T possibly damaging Het
Tonsl A G 15: 76,521,513 (GRCm39) I293T probably benign Het
Topbp1 A G 9: 103,190,128 (GRCm39) probably null Het
Trappc2l T A 8: 123,339,901 (GRCm39) S44T probably benign Het
Tsr1 A G 11: 74,798,280 (GRCm39) probably null Het
Ugdh A G 5: 65,574,357 (GRCm39) probably benign Het
Unc119 A G 11: 78,238,161 (GRCm39) probably null Het
Zkscan14 G A 5: 145,132,944 (GRCm39) P196S probably benign Het
Zmat4 T C 8: 24,392,152 (GRCm39) L36P 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
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
Predicted Primers PCR Primer
(F):5'- TCACTAAGTAGAGGCCCATACC -3'
(R):5'- TTCAAAGCTTCTCGCCGAGG -3'

Sequencing Primer
(F):5'- TACCTCCCAGACAAACTAAGTCATG -3'
(R):5'- TATGAGGACAGCCAGTCTCCAG -3'
Posted On 2014-10-01