Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01358:Nxph2'

75606

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 #

IGL01358

Quality Score

Status

Chromosome

Chromosomal Location

23211258-23291985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23290086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 146 (N146S)

Ref Sequence

ENSEMBL: ENSMUSP00000100009 (fasta)

Gene Model

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

AlphaFold

Q61199

Predicted Effect

probably damaging
Transcript: ENSMUST00000102945
AA Change: N146S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100009
Gene: ENSMUSG00000069132
AA Change: N146S

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	G	7: 27,335,579 (GRCm39)	Y316C	probably damaging	Het
Atp6v0a4	T	G	6: 38,051,145 (GRCm39)	D411A	probably damaging	Het
Calr3	A	T	8: 73,181,057 (GRCm39)	Y178*	probably null	Het
Ces1e	A	G	8: 93,940,778 (GRCm39)	L298P	probably damaging	Het
Clk3	T	C	9: 57,661,875 (GRCm39)	T391A	probably damaging	Het
Cr2	A	G	1: 194,842,128 (GRCm39)	I275T	probably damaging	Het
Cul9	G	T	17: 46,849,240 (GRCm39)	P635H	probably damaging	Het
Dhx33	G	A	11: 70,884,687 (GRCm39)	Q40*	probably null	Het
Dscam	A	T	16: 96,411,543 (GRCm39)	S1778T	possibly damaging	Het
Dsg2	T	A	18: 20,734,850 (GRCm39)	Y943N	probably damaging	Het
Eml1	A	T	12: 108,480,727 (GRCm39)	T398S	probably benign	Het
Epha3	G	A	16: 63,416,109 (GRCm39)		probably benign	Het
Hacl1	A	T	14: 31,348,374 (GRCm39)	M200K	probably benign	Het
Ighmbp2	T	A	19: 3,318,817 (GRCm39)	S420C	probably damaging	Het
Kcnt1	T	A	2: 25,806,017 (GRCm39)	I1200N	probably damaging	Het
Kctd21	T	A	7: 96,996,581 (GRCm39)	L18Q	probably damaging	Het
Krt78	A	C	15: 101,854,698 (GRCm39)	S1038A	probably benign	Het
Lrp2	C	A	2: 69,382,814 (GRCm39)		probably benign	Het
Lrrc41	T	A	4: 115,932,784 (GRCm39)	V60D	probably benign	Het
Mafk	T	C	5: 139,786,248 (GRCm39)	S149P	probably damaging	Het
Mest	T	A	6: 30,746,330 (GRCm39)		probably benign	Het
Nlrp1b	G	A	11: 71,072,682 (GRCm39)	T387I	possibly damaging	Het
Notch3	C	T	17: 32,363,721 (GRCm39)	D1140N	probably damaging	Het
Olfm1	T	C	2: 28,119,507 (GRCm39)	C381R	probably damaging	Het
Or56b1b	T	A	7: 108,164,409 (GRCm39)	R198W	probably benign	Het
Or5p81	C	T	7: 108,266,869 (GRCm39)	P82L	possibly damaging	Het
Parp11	C	T	6: 127,448,526 (GRCm39)	Q48*	probably null	Het
Pgc	T	C	17: 48,041,591 (GRCm39)	V175A	probably benign	Het
Pira12	A	G	7: 3,898,686 (GRCm39)	V254A	probably benign	Het
Plxna1	G	T	6: 89,299,732 (GRCm39)	T1679N	probably damaging	Het
Pnpt1	G	T	11: 29,088,425 (GRCm39)	L229F	possibly damaging	Het
Ppp1r12b	A	T	1: 134,819,897 (GRCm39)	L282Q	probably damaging	Het
Rag2	C	A	2: 101,460,365 (GRCm39)	A225D	possibly damaging	Het
Ralgps1	T	C	2: 33,033,061 (GRCm39)	D456G	possibly damaging	Het
Rasgrf2	T	A	13: 92,130,749 (GRCm39)	T170S	probably benign	Het
Rel	C	T	11: 23,711,155 (GRCm39)	S4N	probably benign	Het
Rims3	C	T	4: 120,748,700 (GRCm39)	S307F	possibly damaging	Het
Rnf123	A	G	9: 107,946,381 (GRCm39)	L290P	probably damaging	Het
Rtn4r	G	T	16: 17,969,260 (GRCm39)	M229I	possibly damaging	Het
Rusc2	G	A	4: 43,426,116 (GRCm39)	R1407Q	probably damaging	Het
Sec23ip	A	T	7: 128,354,521 (GRCm39)	Q259L	possibly damaging	Het
Slc24a4	G	A	12: 102,189,894 (GRCm39)	C204Y	probably benign	Het
Slc27a3	T	C	3: 90,293,859 (GRCm39)	T542A	probably damaging	Het
Smarcal1	A	T	1: 72,655,724 (GRCm39)	I668F	possibly damaging	Het
Snap91	C	A	9: 86,688,613 (GRCm39)	V311F	probably damaging	Het
Sp8	T	A	12: 118,812,705 (GRCm39)	S187T	probably damaging	Het
Tcerg1	T	C	18: 42,657,342 (GRCm39)	S275P	unknown	Het
Vwce	T	A	19: 10,641,773 (GRCm39)	V833D	possibly damaging	Het
Zbtb8b	A	G	4: 129,327,052 (GRCm39)	S38P	probably damaging	Het
Zfp598	T	C	17: 24,900,398 (GRCm39)		probably benign	Het
Zkscan4	G	A	13: 21,668,475 (GRCm39)	E309K	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
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
IGL03013:Nxph2	APN	2	23,289,945 (GRCm39)	missense	probably benign	0.08
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

2013-10-07