Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00861:Snx2'

14178

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snx2

Ensembl Gene

ENSMUSG00000034484

Gene Name

sorting nexin 2

Synonyms

0610030A03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00861

Quality Score

Status

Chromosome

Chromosomal Location

53309388-53353937 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 53343869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037850]

AlphaFold

Q9CWK8

Predicted Effect

probably null
Transcript: ENSMUST00000037850

SMART Domains

Protein: ENSMUSP00000039243
Gene: ENSMUSG00000034484

Domain	Start	End	E-Value	Type
Pfam:Sorting_nexin	2	134	1.6e-29	PFAM
PX	138	265	1.4e-38	SMART
Pfam:Vps5	281	514	2.2e-90	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 belongs to the sorting nexin family whose members contain the phosphoinositide-binding phox (PX) domain. The encoded protein is a component of the retromer complex which plays a role in protein sorting in the endocytic pathway. This protein may form oligomeric complexes with other family members. Alternate splicing results in multiple transcript variants of this gene. Pseudogenes associated with this gene are located on chromosomes 1 and 7. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous mutant mice are viable and fertile and do not exhibit any apparent abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adm2	G	A	15: 89,207,488 (GRCm39)		probably benign	Het
Ambra1	T	A	2: 91,601,271 (GRCm39)	D189E	possibly damaging	Het
Atg16l1	G	A	1: 87,702,560 (GRCm39)	G274S	probably damaging	Het
Cdh20	C	A	1: 109,988,718 (GRCm39)		probably benign	Het
Chat	T	C	14: 32,170,980 (GRCm39)	Y173C	probably damaging	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Ctnnd1	T	C	2: 84,434,096 (GRCm39)	D874G	probably damaging	Het
Dbt	G	A	3: 116,339,763 (GRCm39)	G384S	probably benign	Het
Depdc5	T	C	5: 33,125,158 (GRCm39)		probably null	Het
Eef1b2	G	A	1: 63,217,665 (GRCm39)	G91R	probably damaging	Het
Fut10	G	T	8: 31,725,733 (GRCm39)	V163F	probably damaging	Het
Glmn	A	T	5: 107,718,005 (GRCm39)	M304K	possibly damaging	Het
Klra6	A	G	6: 130,000,663 (GRCm39)	V47A	possibly damaging	Het
Lgi2	T	C	5: 52,695,463 (GRCm39)	K491E	probably benign	Het
Lrrc72	T	A	12: 36,271,507 (GRCm39)	Q138L	probably benign	Het
Nherf4	A	G	9: 44,160,933 (GRCm39)	L211P	possibly damaging	Het
Nxph2	T	A	2: 23,289,974 (GRCm39)	F109I	probably damaging	Het
Oosp3	A	G	19: 11,689,004 (GRCm39)	D84G	probably benign	Het
Poc1b	C	T	10: 98,965,514 (GRCm39)	R106C	probably benign	Het
Ptk2	A	G	15: 73,134,396 (GRCm39)	S568P	probably damaging	Het
Slc4a5	A	G	6: 83,276,453 (GRCm39)	I1093V	probably benign	Het
Washc5	G	T	15: 59,209,125 (GRCm39)	T1033K	probably damaging	Het

Other mutations in Snx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Snx2	APN	18	53,349,472 (GRCm39)	missense	possibly damaging	0.95
IGL01116:Snx2	APN	18	53,327,495 (GRCm39)	splice site	probably benign
IGL01642:Snx2	APN	18	53,349,519 (GRCm39)	missense	probably damaging	0.99
IGL02178:Snx2	APN	18	53,332,857 (GRCm39)	missense	possibly damaging	0.61
IGL02368:Snx2	APN	18	53,322,793 (GRCm39)	missense	probably benign
IGL02597:Snx2	APN	18	53,343,444 (GRCm39)	missense	probably benign	0.09
IGL02964:Snx2	APN	18	53,327,630 (GRCm39)	missense	probably benign	0.00
IGL03372:Snx2	APN	18	53,349,463 (GRCm39)	missense	probably damaging	1.00
blanched	UTSW	18	53,327,516 (GRCm39)	missense	probably damaging	0.98
bleached	UTSW	18	53,330,997 (GRCm39)	splice site	probably null
R0332:Snx2	UTSW	18	53,345,983 (GRCm39)	missense	probably benign	0.01
R0723:Snx2	UTSW	18	53,343,444 (GRCm39)	missense	probably benign	0.09
R0746:Snx2	UTSW	18	53,330,961 (GRCm39)	missense	possibly damaging	0.90
R0826:Snx2	UTSW	18	53,327,594 (GRCm39)	missense	probably benign	0.00
R0894:Snx2	UTSW	18	53,309,488 (GRCm39)	missense	probably benign
R0970:Snx2	UTSW	18	53,343,762 (GRCm39)	splice site	probably benign
R1897:Snx2	UTSW	18	53,330,950 (GRCm39)	missense	probably damaging	0.99
R2049:Snx2	UTSW	18	53,327,516 (GRCm39)	missense	probably damaging	0.98
R2910:Snx2	UTSW	18	53,332,946 (GRCm39)	missense	probably damaging	0.99
R2911:Snx2	UTSW	18	53,332,946 (GRCm39)	missense	probably damaging	0.99
R4460:Snx2	UTSW	18	53,309,516 (GRCm39)	missense	probably benign	0.31
R5225:Snx2	UTSW	18	53,322,784 (GRCm39)	missense	possibly damaging	0.91
R5352:Snx2	UTSW	18	53,330,997 (GRCm39)	splice site	probably null
R5450:Snx2	UTSW	18	53,343,784 (GRCm39)	missense	probably damaging	0.99
R5576:Snx2	UTSW	18	53,343,822 (GRCm39)	missense	probably benign	0.33
R5965:Snx2	UTSW	18	53,327,534 (GRCm39)	nonsense	probably null
R6063:Snx2	UTSW	18	53,342,697 (GRCm39)	nonsense	probably null
R6222:Snx2	UTSW	18	53,332,896 (GRCm39)	nonsense	probably null
R6291:Snx2	UTSW	18	53,342,737 (GRCm39)	critical splice donor site	probably null
R6890:Snx2	UTSW	18	53,345,951 (GRCm39)	missense	probably damaging	1.00
R7380:Snx2	UTSW	18	53,327,640 (GRCm39)	missense	probably benign
R8081:Snx2	UTSW	18	53,349,459 (GRCm39)	missense	probably benign	0.13
R8363:Snx2	UTSW	18	53,330,936 (GRCm39)	nonsense	probably null
R9451:Snx2	UTSW	18	53,343,415 (GRCm39)	missense	probably benign	0.37

Posted On

2012-12-06