Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00848:Napepld'

12232

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 #

IGL00848

Quality Score

Status

Chromosome

Chromosomal Location

21867899-21906394 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21888191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 86 (M86K)

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: M86K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000054458
Gene: ENSMUSG00000044968
AA Change: M86K

Domain	Start	End	E-Value	Type
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: M86K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110872
Gene: ENSMUSG00000044968
AA Change: M86K

Domain	Start	End	E-Value	Type
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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,370,237 (GRCm39)	F508L	probably damaging	Het
Adgra3	C	T	5: 50,159,291 (GRCm39)	G320R	probably damaging	Het
Arhgef40	G	A	14: 52,224,884 (GRCm39)	V10M	probably damaging	Het
Birc6	C	T	17: 75,003,388 (GRCm39)	Q4739*	probably null	Het
Cdcp3	A	G	7: 130,848,453 (GRCm39)	E869G	probably damaging	Het
Cdh20	C	T	1: 104,861,981 (GRCm39)	H54Y	probably benign	Het
Cep112	A	G	11: 108,362,886 (GRCm39)	D202G	probably damaging	Het
Cfhr2	T	A	1: 139,758,970 (GRCm39)	T27S	probably benign	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Copa	T	A	1: 171,938,255 (GRCm39)	C523S	possibly damaging	Het
Copz1	T	A	15: 103,207,176 (GRCm39)		probably benign	Het
Crybg1	A	C	10: 43,843,814 (GRCm39)		probably null	Het
Cyp3a11	A	T	5: 145,799,275 (GRCm39)	I304N	probably damaging	Het
Eif2d	C	T	1: 131,092,173 (GRCm39)	Q315*	probably null	Het
Fgfr4	A	G	13: 55,306,983 (GRCm39)	E224G	probably damaging	Het
Fndc3b	A	T	3: 27,505,658 (GRCm39)	L870Q	probably damaging	Het
Glt8d2	C	T	10: 82,497,999 (GRCm39)		probably null	Het
Gpat3	A	T	5: 101,041,010 (GRCm39)	M357L	probably benign	Het
Hrnr	A	T	3: 93,230,204 (GRCm39)	K147N	unknown	Het
Kbtbd3	T	A	9: 4,331,184 (GRCm39)	S519R	probably damaging	Het
Kcnv1	A	G	15: 44,976,624 (GRCm39)	I221T	probably benign	Het
Khdrbs2	C	T	1: 32,511,833 (GRCm39)	A266V	probably benign	Het
Lmtk2	A	G	5: 144,113,216 (GRCm39)	E1312G	probably benign	Het
Mos	T	C	4: 3,871,459 (GRCm39)	N119S	probably damaging	Het
Mtpap	C	T	18: 4,380,717 (GRCm39)	H132Y	probably benign	Het
Myo18b	G	A	5: 113,019,351 (GRCm39)	T642I	probably damaging	Het
Myo5c	A	G	9: 75,196,463 (GRCm39)	E1303G	probably benign	Het
Nvl	T	A	1: 180,932,690 (GRCm39)	D709V	probably damaging	Het
Pak1ip1	A	T	13: 41,166,099 (GRCm39)	E341D	probably benign	Het
Pgghg	G	A	7: 140,522,317 (GRCm39)	G32D	probably damaging	Het
Phlpp1	G	A	1: 106,303,985 (GRCm39)	R1096H	probably damaging	Het
Phlpp1	C	T	1: 106,267,178 (GRCm39)	T697M	probably damaging	Het
Piwil4	T	G	9: 14,638,707 (GRCm39)	T273P	probably damaging	Het
Pkd2l1	A	T	19: 44,180,718 (GRCm39)		probably benign	Het
Polr3b	A	G	10: 84,516,241 (GRCm39)	D623G	probably damaging	Het
Pop1	A	G	15: 34,508,875 (GRCm39)	T317A	probably benign	Het
Prune2	A	T	19: 17,096,482 (GRCm39)	K662I	probably damaging	Het
Ptger4	T	C	15: 5,264,589 (GRCm39)	I356V	probably benign	Het
Rhbdd1	T	C	1: 82,318,165 (GRCm39)	L16P	possibly damaging	Het
Rps11	C	T	7: 44,772,925 (GRCm39)	R22Q	probably benign	Het
Sfxn2	A	T	19: 46,578,596 (GRCm39)	I204F	probably damaging	Het
Slc26a9	C	T	1: 131,685,266 (GRCm39)	S365F	probably damaging	Het
Slc47a2	C	T	11: 61,193,059 (GRCm39)	V565M	probably benign	Het
Spns1	T	C	7: 125,970,414 (GRCm39)		probably null	Het
Stk3	T	A	15: 35,114,768 (GRCm39)	E48V	possibly damaging	Het
Svs3b	T	C	2: 164,098,021 (GRCm39)	E100G	probably damaging	Het
Tjp1	T	C	7: 64,952,942 (GRCm39)	Q1464R	probably benign	Het
Tspan10	T	C	11: 120,335,096 (GRCm39)	S69P	probably benign	Het
Usp32	T	C	11: 84,942,007 (GRCm39)		probably benign	Het
Vps45	G	T	3: 95,964,285 (GRCm39)		probably benign	Het
Zfp106	A	T	2: 120,343,208 (GRCm39)	N1790K	probably damaging	Het
Zfp704	A	T	3: 9,630,299 (GRCm39)	S21T	possibly damaging	Het

Other mutations in Napepld

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06