Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00836:Snx2'

14177

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 #

IGL00836

Quality Score

Status

Chromosome

Chromosomal Location

53309388-53353937 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53349472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 411 (M411K)

Ref Sequence

ENSEMBL: ENSMUSP00000039243 (fasta)

Gene Model

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

AlphaFold

Q9CWK8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037850
AA Change: M411K

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039243
Gene: ENSMUSG00000034484
AA Change: M411K

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
Ccdc18	G	A	5: 108,328,391 (GRCm39)	S697N	probably benign	Het
Cyp2c29	A	G	19: 39,313,434 (GRCm39)	D310G	probably damaging	Het
Cyp4f13	G	A	17: 33,160,138 (GRCm39)	H79Y	probably benign	Het
Dtna	T	C	18: 23,730,545 (GRCm39)	S311P	probably benign	Het
Dynlrb2	A	G	8: 117,241,572 (GRCm39)	T39A	probably benign	Het
Erc2	T	C	14: 27,762,478 (GRCm39)	I747T	probably damaging	Het
Herc6	G	A	6: 57,596,534 (GRCm39)	M491I	probably damaging	Het
Klra3	A	T	6: 130,304,107 (GRCm39)	I195N	probably benign	Het
Lama3	A	G	18: 12,605,285 (GRCm39)	I1080V	probably benign	Het
Pls1	A	G	9: 95,643,475 (GRCm39)	V508A	possibly damaging	Het
Prdm10	C	A	9: 31,241,165 (GRCm39)		probably benign	Het
Rnase1	T	A	14: 51,383,003 (GRCm39)	Y117F	probably benign	Het
S100pbp	A	T	4: 129,075,901 (GRCm39)	N141K	possibly damaging	Het
Sin3a	T	A	9: 57,014,629 (GRCm39)		probably null	Het
Slc2a2	G	A	3: 28,772,890 (GRCm39)	A228T	possibly damaging	Het
Smurf2	A	G	11: 106,743,462 (GRCm39)	Y182H	probably benign	Het
Stx17	T	C	4: 48,158,955 (GRCm39)	S90P	possibly damaging	Het
Stxbp5l	A	T	16: 37,028,462 (GRCm39)	S534T	possibly damaging	Het
Tacc2	A	G	7: 130,360,898 (GRCm39)	D2730G	probably damaging	Het
Timm8b	A	G	9: 50,516,294 (GRCm39)	D49G	possibly damaging	Het
Ufd1	G	T	16: 18,646,468 (GRCm39)		probably benign	Het
Zfp974	T	C	7: 27,610,315 (GRCm39)	E470G	possibly damaging	Het

Other mutations in Snx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Snx2	APN	18	53,343,869 (GRCm39)	splice site	probably null
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