Mutagenetix > Incidental Mutation

Incidental Mutation 'R5352:Snx2'

423880

Institutional Source

Beutler Lab

Gene Symbol

Snx2

Ensembl Gene

ENSMUSG00000034484

Gene Name

sorting nexin 2

Synonyms

0610030A03Rik

MMRRC Submission

042931-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5352 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53309388-53353937 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 53330997 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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (66/66)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	T	G	16: 14,436,565 (GRCm39)	L206*	probably null	Het
Adgrv1	T	C	13: 81,642,776 (GRCm39)	Y3218C	probably damaging	Het
Agtpbp1	G	A	13: 59,621,560 (GRCm39)	T41M	probably damaging	Het
Akap6	A	T	12: 52,842,880 (GRCm39)	E76V	probably damaging	Het
Ank2	C	A	3: 127,292,640 (GRCm39)		probably benign	Het
Atp6ap1l	A	C	13: 91,031,875 (GRCm39)	L269R	probably damaging	Het
Blk	A	G	14: 63,613,420 (GRCm39)	S363P	probably damaging	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Btnl9	T	C	11: 49,069,667 (GRCm39)	N204S	probably benign	Het
Cc2d2a	G	T	5: 43,863,555 (GRCm39)	W672C	probably damaging	Het
Ccnf	A	G	17: 24,462,247 (GRCm39)		probably null	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Chst1	A	G	2: 92,443,710 (GRCm39)	T61A	possibly damaging	Het
Col6a4	G	A	9: 105,938,743 (GRCm39)	T1325I	probably damaging	Het
Col7a1	A	C	9: 108,790,479 (GRCm39)	T976P	unknown	Het
Corin	C	T	5: 72,462,376 (GRCm39)	S811N	probably benign	Het
Dnal1	T	C	12: 84,183,322 (GRCm39)	V27A	possibly damaging	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
F830045P16Rik	T	A	2: 129,314,821 (GRCm39)	H152L	probably damaging	Het
Flnc	A	G	6: 29,449,317 (GRCm39)	S1405G	possibly damaging	Het
Foxj1	T	C	11: 116,224,905 (GRCm39)	N154S	possibly damaging	Het
Gm12183	T	C	11: 48,642,989 (GRCm39)		noncoding transcript	Het
Gm27047	G	A	6: 130,607,982 (GRCm39)		noncoding transcript	Het
Grm5	A	G	7: 87,724,058 (GRCm39)	I783V	probably damaging	Het
Hk1	A	T	10: 62,140,549 (GRCm39)	S113T	probably damaging	Het
Iqca1	A	T	1: 90,057,918 (GRCm39)	N260K	probably benign	Het
Iws1	A	T	18: 32,216,457 (GRCm39)	K399M	probably damaging	Het
Kdm4d	A	G	9: 14,375,654 (GRCm39)	I68T	probably damaging	Het
Man2a1	T	C	17: 65,038,241 (GRCm39)	I75T	probably damaging	Het
Med13	T	A	11: 86,192,294 (GRCm39)	I824L	possibly damaging	Het
Meioc	A	T	11: 102,566,139 (GRCm39)	E585V	probably benign	Het
Mrgpre	A	C	7: 143,334,831 (GRCm39)	F224C	probably damaging	Het
Muc5b	T	A	7: 141,418,295 (GRCm39)	F3747Y	possibly damaging	Het
Nherf2	C	T	17: 24,861,229 (GRCm39)	R66H	probably damaging	Het
Nlrp4e	T	C	7: 23,052,598 (GRCm39)	V839A	probably benign	Het
Nup210	A	T	6: 91,046,298 (GRCm39)	V545E	probably damaging	Het
Ola1	T	C	2: 72,929,674 (GRCm39)	T310A	probably damaging	Het
Pdxdc1	T	C	16: 13,658,175 (GRCm39)	N516S	probably benign	Het
Phlpp1	A	G	1: 106,100,455 (GRCm39)	D241G	probably benign	Het
Ppp1r36	T	C	12: 76,474,857 (GRCm39)	V85A	probably damaging	Het
Rasa3	A	C	8: 13,681,778 (GRCm39)	L57R	possibly damaging	Het
Rp1	T	C	1: 4,417,321 (GRCm39)	S1264G	probably benign	Het
Rprd1b	A	G	2: 157,900,656 (GRCm39)	E247G	probably damaging	Het
Sag	G	T	1: 87,740,715 (GRCm39)	V46L	probably benign	Het
Sat2	A	T	11: 69,513,141 (GRCm39)	I17F	probably damaging	Het
Slc39a6	A	T	18: 24,734,093 (GRCm39)	Y199N	probably benign	Het
Thbs4	T	C	13: 92,900,098 (GRCm39)	D466G	probably damaging	Het
Tmem208	A	G	8: 106,055,063 (GRCm39)	D91G	probably damaging	Het
Tmf1	A	G	6: 97,153,770 (GRCm39)	L101P	probably damaging	Het
Tnni1	A	G	1: 135,733,330 (GRCm39)	T51A	probably benign	Het
Tor3a	T	G	1: 156,501,763 (GRCm39)	E38A	probably damaging	Het
Trim31	T	A	17: 37,210,810 (GRCm39)	D147E	possibly damaging	Het
Vmn1r48	G	T	6: 90,013,129 (GRCm39)	A232E	probably benign	Het
Vmn1r89	T	G	7: 12,953,284 (GRCm39)	F7V	probably benign	Het
Zfp160	A	G	17: 21,247,114 (GRCm39)	T555A	probably benign	Het
Zfp981	C	A	4: 146,621,462 (GRCm39)	T129K	probably benign	Het
Zfpm2	T	A	15: 40,733,938 (GRCm39)	F106I	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
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
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'- TGTGGGTATAGGCCAAGCATTTA -3'
(R):5'- CATGTAAGCATTCATGCCATCAC -3'

Sequencing Primer
(F):5'- TGATCCTGGTTAGAGAGATG -3'
(R):5'- CTGAAATCCAAATGCTTGGG -3'

Posted On

2016-08-04