Incidental Mutation 'IGL02083:Napepld'
ID283435
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Napepld
Ensembl Gene ENSMUSG00000044968
Gene NameN-acyl phosphatidylethanolamine phospholipase D
SynonymsNAPE-PLD
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02083
Quality Score
Status
Chromosome5
Chromosomal Location21662901-21701396 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 21676067 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 110 (Y110C)
Ref Sequence ENSEMBL: ENSMUSP00000110872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060899] [ENSMUST00000115217]
Predicted Effect probably damaging
Transcript: ENSMUST00000060899
AA Change: Y110C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054458
Gene: ENSMUSG00000044968
AA Change: Y110C

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 damaging
Transcript: ENSMUST00000115217
AA Change: Y110C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110872
Gene: ENSMUSG00000044968
AA Change: Y110C

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A C 11: 69,889,510 L36V possibly damaging Het
Atp13a3 T C 16: 30,347,706 T540A possibly damaging Het
Bend5 A C 4: 111,459,767 I376L probably benign Het
Ccdc138 T C 10: 58,544,914 probably benign Het
Cdh10 T A 15: 18,986,889 I402N possibly damaging Het
Cfap44 T C 16: 44,437,162 V1020A probably damaging Het
Chd2 A T 7: 73,481,068 S749T possibly damaging Het
Doxl2 G A 6: 48,976,260 G373D probably damaging Het
Enpp3 T A 10: 24,776,794 D755V probably damaging Het
Fmo6 T A 1: 162,920,464 K344* probably null Het
Gabbr1 A G 17: 37,070,065 T767A possibly damaging Het
Gjd3 A G 11: 98,982,761 S86P probably damaging Het
Grin1 A G 2: 25,298,501 V432A possibly damaging Het
Igf2r A T 17: 12,693,192 C1849* probably null Het
Jcad G T 18: 4,680,266 probably benign Het
Mrgpra4 A T 7: 47,981,060 C264* probably null Het
Nat6 G T 9: 107,583,599 R231L probably benign Het
Ncapd3 A G 9: 27,051,821 E474G probably damaging Het
Pkhd1 T A 1: 20,201,227 D3034V probably damaging Het
Plxnc1 T C 10: 94,922,725 T370A possibly damaging Het
Ptger4 C T 15: 5,243,174 R13H probably benign Het
Scg2 T A 1: 79,436,224 T261S probably benign Het
Sfswap T C 5: 129,539,791 V433A probably benign Het
Sipa1l3 A G 7: 29,387,261 Y635H probably damaging Het
Sp5 C A 2: 70,476,414 P148T possibly damaging Het
Tlr5 A G 1: 182,973,884 N251S possibly damaging Het
Tmem87a A T 2: 120,397,380 N95K probably damaging Het
Unc45b C T 11: 82,922,919 T384M probably damaging Het
Unc5c T C 3: 141,714,647 L117P probably damaging Het
Vcan T C 13: 89,725,565 N57D probably damaging Het
Zcchc8 G T 5: 123,700,918 T519K probably damaging Het
Zfp729b G A 13: 67,595,230 T72I probably benign Het
Other mutations in Napepld
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Napepld APN 5 21683193 missense probably benign 0.11
IGL01659:Napepld APN 5 21675716 missense probably damaging 0.99
IGL01726:Napepld APN 5 21675659 missense possibly damaging 0.93
IGL02425:Napepld APN 5 21683442 missense probably benign 0.19
R1763:Napepld UTSW 5 21683410 missense probably benign 0.00
R1903:Napepld UTSW 5 21665272 missense probably damaging 0.97
R2166:Napepld UTSW 5 21683232 missense possibly damaging 0.48
R3861:Napepld UTSW 5 21683289 missense probably benign 0.32
R4899:Napepld UTSW 5 21683440 missense probably benign 0.00
R5629:Napepld UTSW 5 21675903 missense probably benign 0.01
R5794:Napepld UTSW 5 21683431 missense possibly damaging 0.93
R6273:Napepld UTSW 5 21665322 missense probably benign 0.01
R7619:Napepld UTSW 5 21675848 missense probably damaging 1.00
R7810:Napepld UTSW 5 21683265 missense possibly damaging 0.86
R7846:Napepld UTSW 5 21675723 missense probably benign 0.13
R7852:Napepld UTSW 5 21683173 missense probably benign 0.00
R8050:Napepld UTSW 5 21665321 missense probably benign 0.00
Posted On2015-04-16