Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03013:Nxph2'

407861

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nxph2

Ensembl Gene

ENSMUSG00000069132

Gene Name

neurexophilin 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL03013

Quality Score

Status

Chromosome

Chromosomal Location

23211258-23291985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23289945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 99 (I99T)

Ref Sequence

ENSEMBL: ENSMUSP00000100009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102945]

AlphaFold

Q61199

Predicted Effect

probably benign
Transcript: ENSMUST00000102945
AA Change: I99T

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000100009
Gene: ENSMUSG00000069132
AA Change: I99T

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Neurexophilin	50	261	7.9e-99	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
B3galt6	G	A	4: 156,076,215 (GRCm39)	Q287*	probably null	Het
C2	A	G	17: 35,091,435 (GRCm39)	V353A	probably damaging	Het
Cntnap2	A	T	6: 47,072,483 (GRCm39)	Y1017F	possibly damaging	Het
Copz1	T	A	15: 103,204,995 (GRCm39)	M118K	probably benign	Het
Dnm1	T	C	2: 32,226,296 (GRCm39)	N298D	probably benign	Het
Exog	T	C	9: 119,291,679 (GRCm39)	S295P	possibly damaging	Het
Ext2	A	T	2: 93,537,571 (GRCm39)		probably benign	Het
Garin5b	A	G	7: 4,761,632 (GRCm39)	L360S	probably benign	Het
Gpatch8	T	C	11: 102,399,023 (GRCm39)	I70V	unknown	Het
Krt5	T	A	15: 101,620,103 (GRCm39)	I205L	probably benign	Het
Leng9	A	G	7: 4,151,737 (GRCm39)	V313A	probably damaging	Het
Macrod2	A	G	2: 141,357,147 (GRCm39)	I148V	probably benign	Het
Mapk14	G	T	17: 28,947,323 (GRCm39)		probably benign	Het
Mfsd4b3-ps	A	T	10: 39,823,891 (GRCm39)	M123K	probably benign	Het
Mmp8	A	G	9: 7,561,690 (GRCm39)	D205G	probably benign	Het
Muc5b	A	T	7: 141,417,665 (GRCm39)	H3537L	possibly damaging	Het
Nde1	C	T	16: 14,009,611 (GRCm39)	P324L	probably benign	Het
Nlrp9b	A	T	7: 19,782,750 (GRCm39)	H888L	probably damaging	Het
Npy2r	A	G	3: 82,447,819 (GRCm39)	F319L	probably damaging	Het
Nup210	A	G	6: 91,030,361 (GRCm39)	V156A	probably benign	Het
Parpbp	A	G	10: 87,975,840 (GRCm39)	I91T	probably damaging	Het
Pld2	A	G	11: 70,432,003 (GRCm39)	Y75C	probably damaging	Het
Pramel12	A	G	4: 143,144,037 (GRCm39)	T128A	possibly damaging	Het
Pramel33	A	T	5: 93,630,391 (GRCm39)	S394T	probably damaging	Het
Prkcb	C	A	7: 122,226,905 (GRCm39)	D630E	probably damaging	Het
Prl3c1	T	C	13: 27,383,349 (GRCm39)	V5A	probably benign	Het
Ro60	A	G	1: 143,646,446 (GRCm39)	S100P	probably damaging	Het
Sdcbp2	A	G	2: 151,429,255 (GRCm39)	T192A	probably benign	Het
Sema6a	C	T	18: 47,381,461 (GRCm39)	A1046T	probably benign	Het
Serpinb3a	A	G	1: 106,973,813 (GRCm39)	F366S	probably damaging	Het
Serpinb9d	T	A	13: 33,380,521 (GRCm39)	W136R	probably damaging	Het
Smc2	G	T	4: 52,442,280 (GRCm39)	V66F	probably damaging	Het
Speg	A	G	1: 75,407,923 (GRCm39)	D3206G	probably damaging	Het
Syne2	C	T	12: 75,976,111 (GRCm39)	A1187V	probably benign	Het
Unc5cl	G	A	17: 48,772,049 (GRCm39)	M442I	possibly damaging	Het

Other mutations in Nxph2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Nxph2	APN	2	23,290,334 (GRCm39)	missense	probably damaging	1.00
IGL00655:Nxph2	APN	2	23,290,153 (GRCm39)	missense	possibly damaging	0.53
IGL00861:Nxph2	APN	2	23,289,974 (GRCm39)	missense	probably damaging	1.00
IGL01358:Nxph2	APN	2	23,290,086 (GRCm39)	missense	probably damaging	1.00
IGL01733:Nxph2	APN	2	23,290,137 (GRCm39)	missense	probably benign	0.00
IGL01983:Nxph2	APN	2	23,289,946 (GRCm39)	missense	probably benign	0.32
IGL02739:Nxph2	APN	2	23,289,912 (GRCm39)	missense	probably benign	0.06
IGL02983:Nxph2	APN	2	23,290,374 (GRCm39)	missense	probably damaging	1.00
R4392:Nxph2	UTSW	2	23,290,284 (GRCm39)	missense	probably damaging	0.99
R4796:Nxph2	UTSW	2	23,289,870 (GRCm39)	missense	probably benign	0.00
R4877:Nxph2	UTSW	2	23,289,846 (GRCm39)	missense	probably benign	0.00
R5038:Nxph2	UTSW	2	23,211,556 (GRCm39)	splice site	probably null
R8057:Nxph2	UTSW	2	23,290,107 (GRCm39)	missense	possibly damaging	0.89
R8461:Nxph2	UTSW	2	23,211,529 (GRCm39)	missense	unknown
R8869:Nxph2	UTSW	2	23,290,071 (GRCm39)	missense	probably damaging	1.00
R9100:Nxph2	UTSW	2	23,289,780 (GRCm39)	missense	probably benign	0.13
R9704:Nxph2	UTSW	2	23,289,723 (GRCm39)	missense	probably benign	0.00
RF004:Nxph2	UTSW	2	23,290,080 (GRCm39)	missense	probably damaging	1.00
Z1088:Nxph2	UTSW	2	23,290,229 (GRCm39)	missense	probably benign	0.10

Posted On

2016-08-02