Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02750:Nxpe3'

306232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nxpe3

Ensembl Gene

ENSMUSG00000075033

Gene Name

neurexophilin and PC-esterase domain family, member 3

Synonyms

Fam55c, LOC208684, LOC385658

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

IGL02750

Quality Score

Status

Chromosome

Chromosomal Location

55660316-55715648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 55680738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 285 (V285L)

Ref Sequence

ENSEMBL: ENSMUSP00000097296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099705]

AlphaFold

B9EKK6

Predicted Effect

probably benign
Transcript: ENSMUST00000099705
AA Change: V285L

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097296
Gene: ENSMUSG00000075033
AA Change: V285L

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:Neurexophilin	73	284	2.9e-64	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neurexophilin family of neuropeptide-like glycoproteins. The encoded protein contains a variable N-terminal domain, a highly conserved neurexophilin and PC-esterase (NXPE) central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein binds alpha neurexins, a group of presynaptic transmembrane receptors that promote adhesion between dendrites and axons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl1	T	C	9: 14,460,087 (GRCm39)	K884R	probably benign	Het
Ano3	T	A	2: 110,496,329 (GRCm39)		probably benign	Het
Baz2b	C	A	2: 59,799,002 (GRCm39)	S374I	possibly damaging	Het
Brd4	G	A	17: 32,417,353 (GRCm39)		probably benign	Het
Cd3g	C	A	9: 44,882,608 (GRCm39)		probably benign	Het
Ckmt1	C	T	2: 121,194,096 (GRCm39)		probably benign	Het
Clcnkb	T	C	4: 141,132,673 (GRCm39)		probably null	Het
Dkkl1	C	T	7: 44,859,536 (GRCm39)		probably null	Het
Ehmt1	G	A	2: 24,753,881 (GRCm39)	T161I	probably damaging	Het
Ern2	A	G	7: 121,780,629 (GRCm39)		probably benign	Het
Fmnl2	T	C	2: 52,993,709 (GRCm39)	I368T	possibly damaging	Het
Gabra5	G	T	7: 57,157,739 (GRCm39)	S25Y	probably benign	Het
Gemin7	C	T	7: 19,299,344 (GRCm39)	V84M	probably null	Het
Gm17654	A	G	14: 43,815,656 (GRCm39)		probably benign	Het
Grk6	T	C	13: 55,599,356 (GRCm39)	F186S	probably damaging	Het
Gtf2ird2	A	G	5: 134,245,731 (GRCm39)	H663R	probably damaging	Het
Gtf3c1	T	A	7: 125,275,684 (GRCm39)	I581F	probably damaging	Het
Herc2	T	A	7: 55,854,127 (GRCm39)		probably benign	Het
Hook3	A	T	8: 26,585,782 (GRCm39)		probably benign	Het
Ints4	T	A	7: 97,166,964 (GRCm39)		probably null	Het
Kpna6	T	C	4: 129,555,170 (GRCm39)	N20D	probably damaging	Het
Krtap29-1	T	C	11: 99,869,510 (GRCm39)	S124G	probably benign	Het
Krtap4-16	C	A	11: 99,742,106 (GRCm39)	R98L	possibly damaging	Het
Lrrc28	T	C	7: 67,181,431 (GRCm39)	D268G	probably damaging	Het
Mcm6	T	A	1: 128,271,209 (GRCm39)	Q470L	probably damaging	Het
Neb	T	C	2: 52,181,067 (GRCm39)	H1180R	probably benign	Het
Or10al2	T	A	17: 37,983,500 (GRCm39)	C195*	probably null	Het
Or14a260	T	A	7: 85,984,752 (GRCm39)	N284I	probably damaging	Het
Or4k37	A	G	2: 111,159,633 (GRCm39)	R290G	probably damaging	Het
Pdcd1	A	G	1: 93,967,269 (GRCm39)		probably benign	Het
Pnkp	A	G	7: 44,509,611 (GRCm39)		probably benign	Het
Pou4f2	A	T	8: 79,161,692 (GRCm39)	F304I	probably damaging	Het
Rita1	G	A	5: 120,747,716 (GRCm39)	T194M	possibly damaging	Het
Rnpc3	T	C	3: 113,415,588 (GRCm39)	T150A	possibly damaging	Het
Sema3b	T	C	9: 107,480,363 (GRCm39)	T168A	probably benign	Het
Skint5	T	A	4: 113,396,559 (GRCm39)	M1205L	unknown	Het
Sox13	A	C	1: 133,311,534 (GRCm39)	I566S	probably benign	Het
Tbc1d32	T	C	10: 56,074,587 (GRCm39)	T209A	possibly damaging	Het
Tonsl	G	T	15: 76,517,589 (GRCm39)	P710Q	probably damaging	Het
Trpm5	T	C	7: 142,628,221 (GRCm39)	H1018R	possibly damaging	Het
Ubr2	A	T	17: 47,280,208 (GRCm39)	M647K	probably benign	Het
Ubr7	A	T	12: 102,737,537 (GRCm39)	T395S	possibly damaging	Het
Uri1	G	A	7: 37,666,906 (GRCm39)	R176*	probably null	Het
Vmn1r188	A	T	13: 22,272,900 (GRCm39)	I285F	probably damaging	Het
Vmn2r116	T	A	17: 23,616,608 (GRCm39)		probably benign	Het
Vmn2r2	C	A	3: 64,024,823 (GRCm39)	C586F	probably damaging	Het
Vmn2r96	T	A	17: 18,802,851 (GRCm39)	W62R	probably benign	Het
Zfp24	A	T	18: 24,150,410 (GRCm39)	S167T	possibly damaging	Het
Zfp462	A	G	4: 55,060,236 (GRCm39)	K1254R	probably null	Het

Other mutations in Nxpe3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:Nxpe3	APN	16	55,664,595 (GRCm39)	missense	probably damaging	0.98
IGL01743:Nxpe3	APN	16	55,670,128 (GRCm39)	missense	probably benign	0.00
IGL02355:Nxpe3	APN	16	55,710,949 (GRCm39)	missense	probably benign	0.11
IGL02362:Nxpe3	APN	16	55,710,949 (GRCm39)	missense	probably benign	0.11
IGL02792:Nxpe3	APN	16	55,686,535 (GRCm39)	missense	probably damaging	0.98
IGL03383:Nxpe3	APN	16	55,670,076 (GRCm39)	missense	probably benign	0.00
R0126:Nxpe3	UTSW	16	55,686,592 (GRCm39)	missense	possibly damaging	0.94
R0348:Nxpe3	UTSW	16	55,686,898 (GRCm39)	missense	probably benign	0.01
R0526:Nxpe3	UTSW	16	55,686,880 (GRCm39)	missense	possibly damaging	0.86
R1752:Nxpe3	UTSW	16	55,686,837 (GRCm39)	missense	probably benign
R1830:Nxpe3	UTSW	16	55,686,444 (GRCm39)	missense	probably damaging	1.00
R2285:Nxpe3	UTSW	16	55,686,588 (GRCm39)	missense	probably damaging	1.00
R3196:Nxpe3	UTSW	16	55,670,078 (GRCm39)	missense	probably damaging	0.99
R4863:Nxpe3	UTSW	16	55,669,996 (GRCm39)	missense	probably damaging	1.00
R4922:Nxpe3	UTSW	16	55,680,687 (GRCm39)	missense	probably benign
R5308:Nxpe3	UTSW	16	55,686,834 (GRCm39)	missense	probably benign	0.43
R5338:Nxpe3	UTSW	16	55,686,706 (GRCm39)	missense	possibly damaging	0.52
R5539:Nxpe3	UTSW	16	55,711,034 (GRCm39)	missense	possibly damaging	0.92
R5780:Nxpe3	UTSW	16	55,686,804 (GRCm39)	missense	probably damaging	1.00
R5877:Nxpe3	UTSW	16	55,686,564 (GRCm39)	missense	probably damaging	1.00
R6769:Nxpe3	UTSW	16	55,686,471 (GRCm39)	missense	probably damaging	1.00
R6771:Nxpe3	UTSW	16	55,686,471 (GRCm39)	missense	probably damaging	1.00
R6841:Nxpe3	UTSW	16	55,664,685 (GRCm39)	missense	possibly damaging	0.65
R7660:Nxpe3	UTSW	16	55,664,690 (GRCm39)	missense	probably damaging	0.96
R8900:Nxpe3	UTSW	16	55,665,023 (GRCm39)	missense	probably damaging	0.98
R8925:Nxpe3	UTSW	16	55,669,997 (GRCm39)	missense	possibly damaging	0.51
R8927:Nxpe3	UTSW	16	55,669,997 (GRCm39)	missense	possibly damaging	0.51
R9599:Nxpe3	UTSW	16	55,664,855 (GRCm39)	missense	probably damaging	1.00
Z1177:Nxpe3	UTSW	16	55,686,585 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16