Mutagenetix > Incidental Mutation

Incidental Mutation 'R0826:Snx2'

78267

Institutional Source

Beutler Lab

Gene Symbol

Snx2

Ensembl Gene

ENSMUSG00000034484

Gene Name

sorting nexin 2

Synonyms

0610030A03Rik

MMRRC Submission

039006-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53309388-53353937 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53327594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 107 (T107S)

Ref Sequence

ENSEMBL: ENSMUSP00000039243 (fasta)

Gene Model

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

AlphaFold

Q9CWK8

Predicted Effect

probably benign
Transcript: ENSMUST00000037850
AA Change: T107S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000039243
Gene: ENSMUSG00000034484
AA Change: T107S

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

Meta Mutation Damage Score

0.0861

Coding Region Coverage

1x: 99.5%
3x: 98.6%
10x: 95.7%
20x: 86.3%

Validation Efficiency

100% (69/69)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4931406C07Rik	T	C	9: 15,203,292 (GRCm39)		probably null	Het
Adamts16	T	A	13: 70,916,811 (GRCm39)	D727V	possibly damaging	Het
Anxa10	A	C	8: 62,529,318 (GRCm39)	L133*	probably null	Het
Arfgef3	G	A	10: 18,465,414 (GRCm39)	T2143I	probably damaging	Het
Arhgef17	T	C	7: 100,579,950 (GRCm39)	T333A	probably benign	Het
Arhgef40	A	G	14: 52,238,450 (GRCm39)	T1310A	probably benign	Het
Atg10	C	T	13: 91,084,705 (GRCm39)		probably null	Het
Atp1a1	A	G	3: 101,492,169 (GRCm39)	F569S	probably damaging	Het
Baiap3	A	G	17: 25,464,203 (GRCm39)	W849R	possibly damaging	Het
Baz1a	A	T	12: 54,977,097 (GRCm39)	Y9*	probably null	Het
Catsperg2	C	T	7: 29,405,049 (GRCm39)	D702N	possibly damaging	Het
Clasrp	G	T	7: 19,318,226 (GRCm39)		probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Col19a1	T	C	1: 24,565,467 (GRCm39)	K288R	unknown	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cttnbp2	A	G	6: 18,405,177 (GRCm39)		probably benign	Het
Dnah1	T	A	14: 31,025,864 (GRCm39)	I828F	probably benign	Het
Dpf2	G	T	19: 5,957,155 (GRCm39)	Q23K	probably damaging	Het
Dsc3	T	A	18: 20,114,229 (GRCm39)	I342F	probably damaging	Het
Enpp3	A	G	10: 24,671,614 (GRCm39)	L460P	probably damaging	Het
Epb41l2	A	G	10: 25,380,090 (GRCm39)	E871G	probably damaging	Het
Exoc2	T	C	13: 31,040,780 (GRCm39)		probably null	Het
Fam243	G	A	16: 92,118,075 (GRCm39)	S71L	probably benign	Het
Fpr-rs7	A	T	17: 20,333,888 (GRCm39)	S201T	probably benign	Het
Gtf2ird2	T	C	5: 134,245,797 (GRCm39)	F685S	probably damaging	Het
Helz2	C	T	2: 180,882,646 (GRCm39)	R49H	possibly damaging	Het
Ica1	A	G	6: 8,667,375 (GRCm39)		probably benign	Het
Ift56	A	G	6: 38,402,049 (GRCm39)		probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kif21a	A	G	15: 90,881,744 (GRCm39)		probably null	Het
Lamb3	T	A	1: 193,013,216 (GRCm39)	C480*	probably null	Het
Lamc2	A	G	1: 153,027,828 (GRCm39)	S199P	probably damaging	Het
Lrfn3	T	C	7: 30,059,676 (GRCm39)	N183S	probably benign	Het
Lsm14a	C	A	7: 34,070,470 (GRCm39)		probably benign	Het
Mest	C	A	6: 30,742,813 (GRCm39)	H146Q	probably damaging	Het
Mmp27	T	C	9: 7,579,010 (GRCm39)	V339A	probably damaging	Het
Myo16	T	C	8: 10,426,285 (GRCm39)		probably benign	Het
Myoz1	C	T	14: 20,703,679 (GRCm39)		probably benign	Het
Nlrp5	A	G	7: 23,117,133 (GRCm39)	M286V	probably benign	Het
Optc	T	C	1: 133,832,893 (GRCm39)	K69R	probably benign	Het
Or13c3	C	T	4: 52,855,566 (GRCm39)	V316I	probably benign	Het
Or2y1c	A	T	11: 49,361,158 (GRCm39)	Y60F	probably damaging	Het
Or4a77	A	C	2: 89,487,181 (GRCm39)	N201K	possibly damaging	Het
Or8g18	C	T	9: 39,149,725 (GRCm39)	M1I	probably null	Het
Osbpl3	A	T	6: 50,323,357 (GRCm39)	M242K	probably damaging	Het
Pdzd9	T	A	7: 120,267,624 (GRCm39)	S64C	probably damaging	Het
Pik3cg	A	G	12: 32,245,672 (GRCm39)	S859P	possibly damaging	Het
Ppp1r12a	G	T	10: 108,066,414 (GRCm39)	A202S	possibly damaging	Het
Rab32	A	T	10: 10,426,611 (GRCm39)	F112I	possibly damaging	Het
Ror2	T	C	13: 53,267,253 (GRCm39)	Y394C	probably damaging	Het
Rtn3	A	G	19: 7,445,245 (GRCm39)		probably benign	Het
Sbk1	C	T	7: 125,891,007 (GRCm39)	P147L	probably damaging	Het
Shpk	T	A	11: 73,094,857 (GRCm39)	M91K	probably damaging	Het
Slco6c1	C	T	1: 97,055,826 (GRCm39)	S25N	probably benign	Het
Tle2	G	A	10: 81,422,148 (GRCm39)	V397I	possibly damaging	Het
Tmem131l	T	C	3: 83,805,724 (GRCm39)	D1573G	probably damaging	Het
Tnfrsf8	A	G	4: 145,011,708 (GRCm39)		probably benign	Het
Tpmt	T	C	13: 47,194,965 (GRCm39)	E36G	probably benign	Het
Trim30c	T	A	7: 104,032,688 (GRCm39)	T257S	probably benign	Het
Tsc2	A	G	17: 24,815,932 (GRCm39)	L150P	probably benign	Het
Upf3a	G	C	8: 13,848,338 (GRCm39)	G378A	possibly damaging	Het
Yeats2	A	T	16: 20,011,966 (GRCm39)	K514*	probably null	Het
Zfp11	A	G	5: 129,734,589 (GRCm39)	Y291H	probably benign	Het
Zfp457	T	C	13: 67,441,378 (GRCm39)	D399G	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- CGTGTTTCTCGAATTGCCATATGCTG -3'
(R):5'- CCTGCGATTATTGACTTGTGCCACC -3'

Sequencing Primer
(F):5'- GAATTGCCATATGCTGTGATTTCC -3'
(R):5'- GACTTGTGCCACCATGCC -3'

Posted On

2013-10-16