Mutagenetix > Incidental Mutation

Incidental Mutation 'R7810:Napepld'

601071

Institutional Source

Beutler Lab

Gene Symbol

Napepld

Ensembl Gene

ENSMUSG00000044968

Gene Name

N-acyl phosphatidylethanolamine phospholipase D

Synonyms

NAPE-PLD

MMRRC Submission

045865-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21867899-21906394 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21888263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 62 (D62V)

Ref Sequence

ENSEMBL: ENSMUSP00000054458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060899] [ENSMUST00000115217]

AlphaFold

Q8BH82

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060899
AA Change: D62V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054458
Gene: ENSMUSG00000044968
AA Change: D62V

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

possibly damaging
Transcript: ENSMUST00000115217
AA Change: D62V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110872
Gene: ENSMUSG00000044968
AA Change: D62V

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (91/92)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 44,105,045 (GRCm39)	E200G	probably benign	Het
Ankfy1	C	T	11: 72,645,281 (GRCm39)	Q787*	probably null	Het
Birc6	T	A	17: 74,855,815 (GRCm39)	H208Q	probably damaging	Het
Brsk2	T	A	7: 141,539,157 (GRCm39)		probably null	Het
Cabp5	T	A	7: 13,132,263 (GRCm39)	F11I	possibly damaging	Het
Ccdc88a	T	C	11: 29,435,964 (GRCm39)	Y1296H	probably damaging	Het
Ccdc88b	A	G	19: 6,826,454 (GRCm39)	V1087A	probably benign	Het
Cct3	C	T	3: 88,228,442 (GRCm39)	T508I	probably damaging	Het
Ceacam9	T	A	7: 16,457,658 (GRCm39)	M57K	possibly damaging	Het
Ces1f	T	C	8: 93,983,546 (GRCm39)	E487G	probably damaging	Het
Chd5	A	G	4: 152,443,032 (GRCm39)	K278E	probably damaging	Het
Cntnap3	T	A	13: 64,941,122 (GRCm39)	H286L	possibly damaging	Het
Dnai7	T	G	6: 145,140,312 (GRCm39)	D163A	probably benign	Het
Efr3a	G	T	15: 65,659,022 (GRCm39)		probably benign	Het
Fastkd2	T	A	1: 63,770,851 (GRCm39)	I69N	possibly damaging	Het
Flg2	T	C	3: 93,107,548 (GRCm39)	I11T	possibly damaging	Het
Folr2	T	C	7: 101,490,102 (GRCm39)	M84V	possibly damaging	Het
Galnt12	T	C	4: 47,113,786 (GRCm39)	F360S	probably damaging	Het
Galr2	T	C	11: 116,173,946 (GRCm39)	V192A	probably benign	Het
Gas6	A	T	8: 13,516,809 (GRCm39)	I563N	probably damaging	Het
Gbe1	T	C	16: 70,324,085 (GRCm39)	F567L	possibly damaging	Het
Gm12695	G	A	4: 96,619,608 (GRCm39)	H423Y	probably damaging	Het
Gm6902	T	C	7: 22,973,243 (GRCm39)	T95A	probably benign	Het
Gpr155	G	T	2: 73,212,296 (GRCm39)	A109D	probably damaging	Het
Hsdl1	T	C	8: 120,294,711 (GRCm39)	D5G	probably damaging	Het
Hyal1	C	T	9: 107,455,628 (GRCm39)	P313S	probably damaging	Het
Igfn1	G	A	1: 135,902,527 (GRCm39)	T390M	probably damaging	Het
Irx1	C	A	13: 72,107,917 (GRCm39)	R255L	probably benign	Het
Itga2	T	A	13: 115,002,715 (GRCm39)	T592S	probably benign	Het
Kit	C	A	5: 75,769,982 (GRCm39)	S131R	probably benign	Het
Map1b	T	C	13: 99,568,390 (GRCm39)	T1444A	unknown	Het
Mapk8ip1	C	T	2: 92,219,496 (GRCm39)	E112K	probably benign	Het
Marveld3	T	C	8: 110,681,266 (GRCm39)	I210V	probably damaging	Het
Masp1	T	A	16: 23,295,068 (GRCm39)	I398L	probably benign	Het
Mmrn1	T	C	6: 60,953,309 (GRCm39)	I530T	probably benign	Het
Mtss2	A	G	8: 111,452,833 (GRCm39)	Y26C	probably damaging	Het
Myo5a	T	A	9: 75,067,747 (GRCm39)	S600R	probably benign	Het
Myo5a	A	G	9: 75,076,292 (GRCm39)	I836V	probably benign	Het
Naaladl1	A	G	19: 6,159,694 (GRCm39)	D375G	probably damaging	Het
Nedd9	A	C	13: 41,465,483 (GRCm39)	I719S	possibly damaging	Het
Nes	T	A	3: 87,882,923 (GRCm39)	M394K	probably benign	Het
Nlrc5	A	T	8: 95,231,772 (GRCm39)	Y1288F	possibly damaging	Het
Nlrp14	T	A	7: 106,791,782 (GRCm39)	C822*	probably null	Het
Noa1	A	C	5: 77,457,071 (GRCm39)	L278R	probably damaging	Het
Nop16	A	G	13: 54,737,889 (GRCm39)		probably benign	Het
Odr4	T	C	1: 150,268,659 (GRCm39)		probably benign	Het
Or11h7	A	T	14: 50,891,450 (GRCm39)	Y252F	probably benign	Het
Or5b12	A	G	19: 12,897,229 (GRCm39)	V148A	probably benign	Het
Osbpl10	C	T	9: 114,890,962 (GRCm39)	H117Y	probably benign	Het
Oxct1	A	T	15: 4,077,058 (GRCm39)	E130D	probably benign	Het
Padi2	A	G	4: 140,676,575 (GRCm39)	E571G	possibly damaging	Het
Pcdhac2	G	A	18: 37,278,717 (GRCm39)	V566M	probably benign	Het
Pdcd11	G	A	19: 47,086,659 (GRCm39)	E222K	possibly damaging	Het
Pira12	C	A	7: 3,897,204 (GRCm39)	C544F	probably damaging	Het
Plekha2	A	G	8: 25,578,356 (GRCm39)		probably null	Het
Pogz	T	C	3: 94,777,418 (GRCm39)	L366P	probably benign	Het
Ppp4r3b	A	G	11: 29,138,086 (GRCm39)	I145V	probably benign	Het
Prkcd	A	G	14: 30,320,407 (GRCm39)		probably null	Het
Ptprk	T	A	10: 28,468,853 (GRCm39)	H1438Q	probably damaging	Het
Rbm4	A	T	19: 4,842,650 (GRCm39)	V63E	possibly damaging	Het
Sbk2	T	A	7: 4,961,938 (GRCm39)	H116L	probably damaging	Het
Sdk1	A	G	5: 141,923,434 (GRCm39)	T352A	probably benign	Het
Septin9	T	A	11: 117,250,264 (GRCm39)	C529*	probably null	Het
Setx	T	A	2: 29,038,663 (GRCm39)	V1716D	probably benign	Het
Slc19a3	C	T	1: 82,997,162 (GRCm39)	V349I	probably benign	Het
Slc27a4	C	A	2: 29,695,722 (GRCm39)	R86S	probably benign	Het
Slc4a8	A	G	15: 100,696,059 (GRCm39)	H613R	possibly damaging	Het
Smoc2	A	G	17: 14,545,884 (GRCm39)	R58G	probably damaging	Het
Sphkap	T	A	1: 83,254,021 (GRCm39)	N1243Y	probably damaging	Het
Srsf5	T	C	12: 80,996,720 (GRCm39)	S261P	unknown	Het
Tab1	A	T	15: 80,042,999 (GRCm39)	T398S	possibly damaging	Het
Tas2r131	T	A	6: 132,934,705 (GRCm39)	T35S	probably benign	Het
Tasor2	T	C	13: 3,625,714 (GRCm39)	K1412R	possibly damaging	Het
Tigd4	T	A	3: 84,502,310 (GRCm39)	V409E	possibly damaging	Het
Tlr12	T	C	4: 128,510,501 (GRCm39)	Q583R	probably benign	Het
Tmprss9	T	A	10: 80,733,145 (GRCm39)	C894S	unknown	Het
Topaz1	T	A	9: 122,578,250 (GRCm39)	S387T	probably benign	Het
Tsfm	T	C	10: 126,847,558 (GRCm39)	R178G	probably benign	Het
Ttll13	T	C	7: 79,902,875 (GRCm39)	I181T	probably damaging	Het
Ttyh3	T	A	5: 140,610,896 (GRCm39)	K97N		Het
Ubr4	A	G	4: 139,142,394 (GRCm39)	E38G		Het
Ugt2b37	T	C	5: 87,402,118 (GRCm39)	Y171C	probably damaging	Het
Unc5b	C	A	10: 60,601,020 (GRCm39)	M935I	probably benign	Het
Usp34	T	C	11: 23,362,314 (GRCm39)	S1606P		Het
Vmn1r195	T	C	13: 22,463,244 (GRCm39)	L238P	probably damaging	Het
Vmn2r85	T	A	10: 130,261,081 (GRCm39)	M419L	probably benign	Het
Washc2	G	T	6: 116,236,020 (GRCm39)	A1164S	probably benign	Het
Wdfy3	A	T	5: 102,042,940 (GRCm39)	M1937K	probably benign	Het
Wdfy3	A	T	5: 102,099,265 (GRCm39)	L261*	probably null	Het
Wdr64	A	T	1: 175,559,092 (GRCm39)	Y285F	probably benign	Het
Wtap	A	G	17: 13,199,797 (GRCm39)	L62P	probably damaging	Het
Zfp1007	A	C	5: 109,825,170 (GRCm39)	Y93*	probably null	Het
Zfp94	C	A	7: 24,002,498 (GRCm39)	V315F	probably benign	Het
Zhx1	A	T	15: 57,911,798 (GRCm39)		probably null	Het

Other mutations in Napepld

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TTCAAAGCTTCTCGCCGAG -3'

Sequencing Primer
(F):5'- TACCTCCCAGACAAACTAAGTCATG -3'
(R):5'- GATGAGTATGAGGACAGCCAGTCTC -3'

Posted On

2019-11-26