Incidental Mutation 'R9348:Napepld'
ID 707908
Institutional Source Beutler Lab
Gene Symbol Napepld
Ensembl Gene ENSMUSG00000044968
Gene Name N-acyl phosphatidylethanolamine phospholipase D
Synonyms NAPE-PLD
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9348 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 21867899-21906394 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21875490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 351 (N351K)
Ref Sequence ENSEMBL: ENSMUSP00000054458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060899] [ENSMUST00000115217]
AlphaFold Q8BH82
Predicted Effect probably benign
Transcript: ENSMUST00000060899
AA Change: N351K

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000054458
Gene: ENSMUSG00000044968
AA Change: N351K

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: N351K

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000110872
Gene: ENSMUSG00000044968
AA Change: N351K

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 C T 8: 41,208,953 (GRCm39) P740S probably benign Het
Arfgef1 G T 1: 10,283,419 (GRCm39) H163Q probably benign Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Atp6v1h T A 1: 5,187,699 (GRCm39) D222E probably damaging Het
Auts2 T C 5: 131,490,155 (GRCm39) T165A Het
BC034090 A G 1: 155,099,049 (GRCm39) S579P probably benign Het
Bpifb9b T A 2: 154,160,766 (GRCm39) S546T probably benign Het
C4b C T 17: 34,952,159 (GRCm39) V1229I probably benign Het
Cadps2 T C 6: 23,344,262 (GRCm39) D895G probably benign Het
Cby2 A G 14: 75,820,838 (GRCm39) S296P probably damaging Het
Cep112 T C 11: 108,328,076 (GRCm39) S51P probably damaging Het
Cep164 T C 9: 45,717,708 (GRCm39) H545R unknown Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
Crlf1 T A 8: 70,951,316 (GRCm39) I65K probably benign Het
Crybg3 T C 16: 59,421,256 (GRCm39) M1V probably null Het
Cyb5d1 T A 11: 69,285,830 (GRCm39) I69L probably damaging Het
D430041D05Rik T C 2: 104,088,337 (GRCm39) D213G probably benign Het
Dennd5a C G 7: 109,498,930 (GRCm39) probably null Het
Dennd5a T A 7: 109,498,942 (GRCm39) M998L probably benign Het
E2f1 T A 2: 154,402,755 (GRCm39) E382D probably benign Het
Enpep T A 3: 129,102,772 (GRCm39) T395S probably benign Het
Gm20939 A G 17: 95,182,977 (GRCm39) E71G probably damaging Het
Hs1bp3 T A 12: 8,386,273 (GRCm39) V225E probably benign Het
Icam5 T C 9: 20,943,427 (GRCm39) M1T probably null Het
Ifi205 T C 1: 173,844,997 (GRCm39) I262V probably benign Het
Iqce T C 5: 140,677,380 (GRCm39) Y147C probably damaging Het
Kcnh2 C T 5: 24,538,003 (GRCm39) G120E probably damaging Het
Kif3c A G 12: 3,417,505 (GRCm39) T509A probably benign Het
Ndufaf3 C A 9: 108,443,357 (GRCm39) probably null Het
Nlrp9b C T 7: 19,757,336 (GRCm39) T191I probably damaging Het
Oog2 T C 4: 143,921,789 (GRCm39) L233P probably damaging Het
Or1a1b T A 11: 74,097,289 (GRCm39) Y251F probably damaging Het
Or2g1 T C 17: 38,106,992 (GRCm39) I219T probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or2w1 T A 13: 21,317,131 (GRCm39) F62Y possibly damaging Het
Preb A G 5: 31,112,995 (GRCm39) F416L probably benign Het
Prickle2 C T 6: 92,397,243 (GRCm39) V217I probably benign Het
Prss45 T A 9: 110,668,278 (GRCm39) I157N probably damaging Het
Ranbp17 T C 11: 33,429,232 (GRCm39) T338A probably benign Het
Snd1 T C 6: 28,745,206 (GRCm39) F517S probably damaging Het
Srpk2 A T 5: 23,719,671 (GRCm39) F578I probably damaging Het
Stx2 A T 5: 129,076,601 (GRCm39) D27E probably benign Het
Tgfbrap1 A G 1: 43,093,695 (GRCm39) I599T probably benign Het
Trim25 G T 11: 88,900,167 (GRCm39) E305* probably null Het
Ttll7 T A 3: 146,673,768 (GRCm39) I821N probably benign Het
Wdfy3 A G 5: 102,089,358 (GRCm39) L612P probably damaging Het
Zcchc9 T A 13: 91,954,186 (GRCm39) D23V Het
Zfp141 C A 7: 42,124,814 (GRCm39) E553* probably null Het
Zfyve26 T C 12: 79,315,231 (GRCm39) D1415G possibly damaging Het
Zpbp2 C T 11: 98,442,141 (GRCm39) probably benign 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
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
R9617:Napepld UTSW 5 21,875,561 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGAGAGTGAGCCATGACGATTC -3'
(R):5'- AGCAATCATTTGGATTTGGCTG -3'

Sequencing Primer
(F):5'- CGATTCATGTTCTACATCACACAGAG -3'
(R):5'- GATTTGGCTGTTCGCAAACAC -3'
Posted On 2022-04-18