Mutagenetix > Incidental Mutation

Incidental Mutation 'R8927:Nxpe3'

679630

Institutional Source

Beutler Lab

Gene Symbol

Nxpe3

Ensembl Gene

ENSMUSG00000075033

Gene Name

neurexophilin and PC-esterase domain family, member 3

Synonyms

Fam55c, LOC208684, LOC385658

MMRRC Submission

068771-MU

Accession Numbers

Essential gene?

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

Stock #

R8927 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55660316-55715648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 55669997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 369 (E369D)

Ref Sequence

ENSEMBL: ENSMUSP00000097296 (fasta)

Gene Model

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

AlphaFold

B9EKK6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099705
AA Change: E369D

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097296
Gene: ENSMUSG00000075033
AA Change: E369D

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,165,805 (GRCm39)	R190*	probably null	Het
Aldh7a1	A	T	18: 56,660,060 (GRCm39)	S529T	probably benign	Het
Carmil2	T	G	8: 106,415,130 (GRCm39)	Y214*	probably null	Het
Ccdc136	A	G	6: 29,406,109 (GRCm39)	I152V	probably damaging	Het
Ccdc88c	T	C	12: 100,932,676 (GRCm39)	D285G	possibly damaging	Het
Clec4a3	T	A	6: 122,946,328 (GRCm39)	F191I	probably damaging	Het
Dennd6b	AGCTGGGGTCCCGC	AGC	15: 89,069,780 (GRCm39)		probably null	Het
Dlg5	A	T	14: 24,206,547 (GRCm39)	S1222T		Het
Dnaaf9	T	A	2: 130,579,300 (GRCm39)	R777*	probably null	Het
Dnah14	T	G	1: 181,508,321 (GRCm39)	L1833W	probably damaging	Het
Dsg2	T	C	18: 20,725,535 (GRCm39)	W549R	probably damaging	Het
Ezh2	A	T	6: 47,510,713 (GRCm39)	V632E	possibly damaging	Het
Fam83a	G	A	15: 57,873,313 (GRCm39)	V381M	probably benign	Het
Fmo2	T	C	1: 162,704,398 (GRCm39)	T503A	probably benign	Het
Foxo1	T	C	3: 52,252,703 (GRCm39)	F289L	probably damaging	Het
Gckr	A	G	5: 31,456,903 (GRCm39)	E96G	probably damaging	Het
Gm18596	G	A	10: 77,578,162 (GRCm39)	A104V	unknown	Het
Gm21680	A	T	5: 26,176,347 (GRCm39)	N83K	probably damaging	Het
Gnb5	T	C	9: 75,252,236 (GRCm39)	V393A	possibly damaging	Het
Grin2b	T	G	6: 135,749,339 (GRCm39)	Q621P	probably damaging	Het
Gtsf2	T	C	15: 103,352,783 (GRCm39)	I79V	probably benign	Het
Itga1	T	C	13: 115,105,055 (GRCm39)	I1040V	probably benign	Het
Kif2b	C	T	11: 91,468,023 (GRCm39)	E87K	probably benign	Het
Klk1b8	G	A	7: 43,604,206 (GRCm39)	G225S	probably damaging	Het
L3mbtl3	A	T	10: 26,220,084 (GRCm39)	C94S	unknown	Het
Man2c1	T	G	9: 57,048,456 (GRCm39)	Y872*	probably null	Het
Mical3	T	A	6: 120,984,325 (GRCm39)	M832L	probably benign	Het
Mrc2	A	G	11: 105,216,334 (GRCm39)	D41G	probably benign	Het
Nedd1	T	A	10: 92,558,258 (GRCm39)		probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Notch3	C	T	17: 32,372,792 (GRCm39)	R593Q	probably benign	Het
Obscn	T	A	11: 58,977,695 (GRCm39)	T1802S	possibly damaging	Het
Or1e33	A	T	11: 73,738,406 (GRCm39)	F182I	probably benign	Het
Or2a7	T	C	6: 43,151,669 (GRCm39)	F250L	probably benign	Het
Or4k51	A	T	2: 111,585,107 (GRCm39)	H171L	probably benign	Het
Or9s14	A	G	1: 92,536,438 (GRCm39)	N293S	probably damaging	Het
Oscar	A	C	7: 3,614,747 (GRCm39)	V75G	probably benign	Het
Pcdhb17	G	A	18: 37,620,372 (GRCm39)	A721T	probably benign	Het
Pcnx2	T	C	8: 126,614,659 (GRCm39)	Y264C	probably benign	Het
Pear1	G	T	3: 87,661,890 (GRCm39)	A495D	probably damaging	Het
Plekhf1	C	A	7: 37,920,998 (GRCm39)	R190L	probably damaging	Het
Plppr5	T	C	3: 117,369,532 (GRCm39)	V63A	probably benign	Het
Pyroxd1	T	A	6: 142,300,437 (GRCm39)	F189Y	probably damaging	Het
Rab13	C	T	3: 90,128,120 (GRCm39)		probably benign	Het
Rptor	C	T	11: 119,782,036 (GRCm39)	T1121I	probably benign	Het
Scgb2b7	T	C	7: 31,404,602 (GRCm39)	S33G	probably benign	Het
Slc25a36	A	G	9: 96,982,126 (GRCm39)		probably null	Het
Smtn	T	A	11: 3,479,477 (GRCm39)	H530L	possibly damaging	Het
Srrt	C	T	5: 137,297,070 (GRCm39)	C411Y	probably benign	Het
Stag1	C	A	9: 100,587,298 (GRCm39)	P7Q	possibly damaging	Het
Tarm1	G	A	7: 3,537,719 (GRCm39)	T248I	possibly damaging	Het
Tektl1	T	C	10: 78,588,258 (GRCm39)	Y184C	probably damaging	Het
Trim6	C	T	7: 103,881,655 (GRCm39)	A328V	probably benign	Het
Vmn1r189	T	C	13: 22,286,811 (GRCm39)	I9V	probably benign	Het
Vmn2r93	A	G	17: 18,546,500 (GRCm39)	T791A	probably damaging	Het
Vsig10l	A	G	7: 43,116,020 (GRCm39)	T454A	probably benign	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
IGL02750:Nxpe3	APN	16	55,680,738 (GRCm39)	missense	probably benign	0.21
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGAACCTCGTGACAACCTC -3'
(R):5'- GAATCTTATGATAGATCCCTTCCCC -3'

Sequencing Primer
(F):5'- TCCACCAAAGCAAGACTCTG -3'
(R):5'- CTGATGACTTAGAAGTATCTCAAGGC -3'

Posted On

2021-08-02