Mutagenetix > Incidental Mutation

Incidental Mutation 'R1897:Snx2'

212090

Institutional Source

Beutler Lab

Gene Symbol

Snx2

Ensembl Gene

ENSMUSG00000034484

Gene Name

sorting nexin 2

Synonyms

0610030A03Rik

MMRRC Submission

039917-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1897 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53309388-53353937 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53330950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 138 (D138E)

Ref Sequence

ENSEMBL: ENSMUSP00000039243 (fasta)

Gene Model

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

AlphaFold

Q9CWK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000037850
AA Change: D138E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039243
Gene: ENSMUSG00000034484
AA Change: D138E

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

0.6467

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.8%

Validation Efficiency

99% (72/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	A	G	1: 155,434,564 (GRCm39)	S61G	probably damaging	Het
Acot12	A	G	13: 91,932,516 (GRCm39)	N504S	probably benign	Het
Adcy3	C	T	12: 4,223,450 (GRCm39)		probably benign	Het
Adcyap1r1	A	T	6: 55,456,179 (GRCm39)	H168L	probably damaging	Het
Adgrd1	A	G	5: 129,206,065 (GRCm39)	E213G	probably benign	Het
Aldh1l2	G	T	10: 83,338,389 (GRCm39)	T510K	probably damaging	Het
Apol7e	A	T	15: 77,602,094 (GRCm39)	M231L	probably benign	Het
Asb1	C	A	1: 91,474,647 (GRCm39)		probably null	Het
Atf7ip2	C	T	16: 10,028,948 (GRCm39)	P160L	probably damaging	Het
Atp8a1	A	G	5: 67,895,772 (GRCm39)	L554P	probably damaging	Het
Ccdc18	A	T	5: 108,343,908 (GRCm39)	M884L	probably benign	Het
Ccdc93	A	G	1: 121,418,941 (GRCm39)	I499V	probably benign	Het
Ccl20	A	G	1: 83,095,616 (GRCm39)	D60G	probably damaging	Het
Cdhr3	T	C	12: 33,095,192 (GRCm39)	T626A	possibly damaging	Het
Cep250	A	G	2: 155,818,015 (GRCm39)	E789G	probably damaging	Het
Cmpk2	T	C	12: 26,524,046 (GRCm39)	L281P	probably damaging	Het
Col6a6	A	T	9: 105,662,943 (GRCm39)	M198K	possibly damaging	Het
Crocc	G	A	4: 140,746,047 (GRCm39)	R1691C	probably damaging	Het
Csf1	C	T	3: 107,655,595 (GRCm39)	V90M	probably damaging	Het
Cul2	T	G	18: 3,414,164 (GRCm39)	M86R	probably benign	Het
Dbndd2	T	C	2: 164,330,584 (GRCm39)	F79S	probably damaging	Het
Dkk1	G	T	19: 30,526,678 (GRCm39)	N34K	possibly damaging	Het
Dnah6	T	A	6: 73,158,745 (GRCm39)	L619F	probably benign	Het
Eif2b5	T	C	16: 20,325,787 (GRCm39)	V588A	probably damaging	Het
Elf3	A	T	1: 135,184,875 (GRCm39)	Y104N	probably damaging	Het
Fahd2a	T	C	2: 127,278,530 (GRCm39)	D272G	probably damaging	Het
Fbxw15	A	T	9: 109,387,271 (GRCm39)	C188*	probably null	Het
Fbxw8	T	C	5: 118,266,941 (GRCm39)	Y174C	probably benign	Het
Gnl1	C	A	17: 36,299,584 (GRCm39)	P585Q	possibly damaging	Het
Greb1l	T	C	18: 10,498,992 (GRCm39)	S292P	probably benign	Het
Gsk3b	G	A	16: 38,037,446 (GRCm39)		probably null	Het
Hcls1	C	T	16: 36,783,005 (GRCm39)	P452L	probably damaging	Het
Hdlbp	A	T	1: 93,350,007 (GRCm39)		probably benign	Het
Hecw1	A	G	13: 14,552,525 (GRCm39)	S25P	probably damaging	Het
Hells	T	C	19: 38,928,928 (GRCm39)	V100A	probably benign	Het
Isl1	C	T	13: 116,439,866 (GRCm39)	E161K	probably benign	Het
Klra9	G	T	6: 130,162,555 (GRCm39)	N160K	possibly damaging	Het
Lama4	T	C	10: 38,936,182 (GRCm39)	V619A	probably damaging	Het
Mpc1	G	A	17: 8,515,710 (GRCm39)	R134Q	possibly damaging	Het
Myo5c	A	T	9: 75,199,523 (GRCm39)	N1377I	probably benign	Het
Myrf	T	C	19: 10,195,596 (GRCm39)	I607V	probably benign	Het
Or2g1	T	G	17: 38,107,075 (GRCm39)	S247A	probably benign	Het
Or8g53	A	T	9: 39,683,361 (GRCm39)	I245K	probably damaging	Het
Pik3c2b	A	G	1: 132,994,654 (GRCm39)	D206G	possibly damaging	Het
Pipox	A	G	11: 77,773,568 (GRCm39)	Y228H	probably damaging	Het
Pitrm1	T	A	13: 6,610,131 (GRCm39)	V401D	possibly damaging	Het
Plod1	C	T	4: 148,010,657 (GRCm39)	E265K	probably damaging	Het
Ptpn21	A	T	12: 98,646,664 (GRCm39)		probably null	Het
Qars1	C	T	9: 108,391,282 (GRCm39)	Q7*	probably null	Het
Rpap2	T	A	5: 107,780,961 (GRCm39)	V479E	possibly damaging	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Rusc2	A	G	4: 43,421,749 (GRCm39)	Y723C	probably damaging	Het
Ryr2	A	T	13: 11,765,818 (GRCm39)	M1306K	probably benign	Het
Sesn3	A	C	9: 14,219,941 (GRCm39)	Y110S	probably damaging	Het
Sgce	C	T	6: 4,691,511 (GRCm39)	V319I	probably benign	Het
Slc15a5	G	T	6: 138,056,762 (GRCm39)	F51L	possibly damaging	Het
Slit2	T	A	5: 48,395,765 (GRCm39)	C723S	probably damaging	Het
Sncaip	A	G	18: 53,027,862 (GRCm39)		probably null	Het
Spef2	A	T	15: 9,729,740 (GRCm39)	L126*	probably null	Het
Stam	T	C	2: 14,133,837 (GRCm39)	S195P	probably damaging	Het
Strn	T	C	17: 78,990,271 (GRCm39)	I82V	probably benign	Het
Synj2	T	A	17: 6,072,412 (GRCm39)	C202*	probably null	Het
Tecpr2	A	G	12: 110,899,681 (GRCm39)	D683G	probably benign	Het
Tfec	A	G	6: 16,835,307 (GRCm39)	V157A	probably damaging	Het
Tff1	T	G	17: 31,383,912 (GRCm39)	Q28P	probably benign	Het
Vmn2r86	A	G	10: 130,288,314 (GRCm39)	Y396H	probably damaging	Het
Vmn2r87	A	T	10: 130,307,829 (GRCm39)	M803K	probably damaging	Het
Vmn2r90	A	G	17: 17,953,566 (GRCm39)	K577E	probably damaging	Het
Vrk1	T	C	12: 106,002,799 (GRCm39)		probably benign	Het
Wdr20	A	G	12: 110,760,157 (GRCm39)	T348A	probably benign	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
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
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'- TGAAAATAGTAGGGTCTGTATATCTGG -3'
(R):5'- TGTGTGTAAGACCTGGCATTTAAC -3'

Sequencing Primer
(F):5'- TGCAAAAAGTAGCTTCTTCGGCG -3'
(R):5'- CTATAGGATGTAACAATCAAGC -3'

Posted On

2014-06-30