Incidental Mutation 'R8050:Napepld'
ID 618983
Institutional Source Beutler Lab
Gene Symbol Napepld
Ensembl Gene ENSMUSG00000044968
Gene Name N-acyl phosphatidylethanolamine phospholipase D
Synonyms NAPE-PLD
MMRRC Submission 067487-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8050 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 21867899-21906394 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 21870319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 366 (E366D)
Ref Sequence ENSEMBL: ENSMUSP00000054458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060899] [ENSMUST00000072896] [ENSMUST00000095495] [ENSMUST00000115217] [ENSMUST00000148873]
AlphaFold Q8BH82
Predicted Effect probably benign
Transcript: ENSMUST00000060899
AA Change: E366D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000054458
Gene: ENSMUSG00000044968
AA Change: E366D

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: ENSMUST00000072896
SMART Domains Protein: ENSMUSP00000072669
Gene: ENSMUSG00000038525

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Arm_2 48 300 2e-104 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095495
SMART Domains Protein: ENSMUSP00000093149
Gene: ENSMUSG00000038525

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Arm_2 48 234 6.5e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115217
AA Change: E366D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000110872
Gene: ENSMUSG00000044968
AA Change: E366D

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
Predicted Effect probably benign
Transcript: ENSMUST00000148873
SMART Domains Protein: ENSMUSP00000120269
Gene: ENSMUSG00000038525

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Arm_2 38 286 4.7e-113 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik T A 7: 43,900,677 (GRCm39) V194E possibly damaging Het
Adgrv1 T C 13: 81,561,296 (GRCm39) N5406S probably damaging Het
Arhgef38 T A 3: 132,843,323 (GRCm39) R416* probably null Het
Asb7 T A 7: 66,328,932 (GRCm39) Q36L probably benign Het
Bbof1 G A 12: 84,457,991 (GRCm39) M85I probably benign Het
Bin1 T G 18: 32,539,198 (GRCm39) F44V probably damaging Het
Bnc2 C A 4: 84,210,573 (GRCm39) V599L probably benign Het
Bnip3l A G 14: 67,226,651 (GRCm39) S181P probably damaging Het
Btnl9 A G 11: 49,066,442 (GRCm39) L374P probably benign Het
Cd109 T C 9: 78,571,633 (GRCm39) I424T probably benign Het
Cdhr2 G A 13: 54,882,035 (GRCm39) V1162M probably damaging Het
Dgkb G A 12: 38,174,216 (GRCm39) E181K probably benign Het
Dnase1 A T 16: 3,855,861 (GRCm39) D64V probably damaging Het
E130308A19Rik T C 4: 59,719,767 (GRCm39) I433T probably damaging Het
Ecsit C T 9: 21,987,592 (GRCm39) R149H probably benign Het
Eif1ad8 G A 12: 87,563,911 (GRCm39) R82Q possibly damaging Het
Enpep A T 3: 129,099,165 (GRCm39) V437E probably damaging Het
Esrp1 A T 4: 11,338,767 (GRCm39) V679D probably damaging Het
Fa2h T A 8: 112,074,817 (GRCm39) probably null Het
Fabp1 G A 6: 71,176,956 (GRCm39) E16K probably damaging Het
Fstl5 T A 3: 76,614,810 (GRCm39) S624T probably benign Het
Gemin5 G A 11: 58,019,686 (GRCm39) R1128W probably benign Het
H2bc8 T C 13: 23,755,841 (GRCm39) S79P probably damaging Het
Hps3 T C 3: 20,057,492 (GRCm39) H896R probably benign Het
Hsf1 T A 15: 76,382,481 (GRCm39) I284K probably benign Het
Igkv3-2 T A 6: 70,675,988 (GRCm39) I99N probably damaging Het
Iqub T A 6: 24,503,784 (GRCm39) I163F possibly damaging Het
Jak2 T C 19: 29,275,732 (GRCm39) I724T probably damaging Het
Kbtbd3 A T 9: 4,330,408 (GRCm39) T261S probably benign Het
Kctd20 G T 17: 29,171,732 (GRCm39) probably null Het
Kif28 C T 1: 179,537,014 (GRCm39) V490M probably benign Het
Kif9 T C 9: 110,348,208 (GRCm39) L677P probably damaging Het
Klhl18 T C 9: 110,257,829 (GRCm39) Y537C probably damaging Het
Mmut T A 17: 41,254,784 (GRCm39) I331K probably benign Het
Myo5a T A 9: 75,089,228 (GRCm39) S1119R probably damaging Het
Nbea A G 3: 55,895,402 (GRCm39) V1540A probably damaging Het
Neb T A 2: 52,111,738 (GRCm39) I130L probably benign Het
Opcml T C 9: 28,724,640 (GRCm39) V146A probably damaging Het
Or2g7 T C 17: 38,378,370 (GRCm39) S103P probably damaging Het
Or2r11 A T 6: 42,437,764 (GRCm39) L63H probably damaging Het
Or7e178 C T 9: 20,225,941 (GRCm39) D92N probably damaging Het
Pappa2 A C 1: 158,675,970 (GRCm39) C925W probably damaging Het
Parp12 T A 6: 39,066,038 (GRCm39) N562Y probably damaging Het
Patj C A 4: 98,427,201 (GRCm39) H1198Q probably benign Het
Pcyox1 T A 6: 86,366,128 (GRCm39) K362M possibly damaging Het
Pcyt2 T C 11: 120,501,765 (GRCm39) Y350C probably benign Het
Pkd1 A T 17: 24,784,617 (GRCm39) T388S probably benign Het
Prl3d1 T A 13: 27,284,011 (GRCm39) Y193* probably null Het
Psme1 A T 14: 55,817,056 (GRCm39) D15V possibly damaging Het
Qrsl1 G A 10: 43,750,631 (GRCm39) R476C probably damaging Het
Ranbp2 A G 10: 58,315,441 (GRCm39) N2054D probably damaging Het
Serpinb1c T A 13: 33,066,052 (GRCm39) K298* probably null Het
Slc22a27 A T 19: 7,857,532 (GRCm39) M355K probably benign Het
Spp1 T A 5: 104,588,280 (GRCm39) H227Q probably benign Het
Stam2 T A 2: 52,609,785 (GRCm39) N75I probably damaging Het
Tacc1 T C 8: 25,659,230 (GRCm39) T579A probably benign Het
Tbx3 A G 5: 119,821,132 (GRCm39) D734G probably benign Het
Tmem233 G T 5: 116,221,141 (GRCm39) S35* probably null Het
Trim43c A T 9: 88,722,390 (GRCm39) E12V probably damaging Het
Trio A G 15: 27,891,540 (GRCm39) S463P unknown Het
Uggt2 A T 14: 119,263,834 (GRCm39) D1065E probably damaging Het
Usp1 A G 4: 98,817,150 (GRCm39) N114S probably benign Het
Usp34 A G 11: 23,396,787 (GRCm39) E2377G Het
Virma T A 4: 11,528,643 (GRCm39) H1243Q probably benign Het
Vmn2r3 A T 3: 64,178,714 (GRCm39) V517D probably damaging Het
Zfp931 T C 2: 177,709,889 (GRCm39) K166E probably damaging Het
Zp3 T A 5: 136,011,604 (GRCm39) Y141N 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
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
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'- CACACTTGCAGAAATTGTTTCCATG -3'
(R):5'- GCTTCCGTTGGGTAAGAAGACG -3'

Sequencing Primer
(F):5'- GCAGAAATTGTTTCCATGTGAAAAG -3'
(R):5'- GTCTGATTTGCAAATGGTTCATTC -3'
Posted On 2020-01-23