Mutagenetix > Incidental Mutation

Incidental Mutation 'R5450:Snx2'

429311

Institutional Source

Beutler Lab

Gene Symbol

Snx2

Ensembl Gene

ENSMUSG00000034484

Gene Name

sorting nexin 2

Synonyms

0610030A03Rik

MMRRC Submission

043015-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5450 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53176365-53220860 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53210712 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 309 (K309R)

Ref Sequence

ENSEMBL: ENSMUSP00000039243 (fasta)

Gene Model

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

AlphaFold

Q9CWK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000037850
AA Change: K309R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039243
Gene: ENSMUSG00000034484
AA Change: K309R

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

0.1711

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (74/76)

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
4930505A04Rik	C	T	11: 30,426,349 (GRCm38)	V173M	probably damaging	Het
AF067063	A	T	13: 119,828,363 (GRCm38)	V99E	probably damaging	Het
Arhgef4	T	G	1: 34,807,324 (GRCm38)		probably benign	Het
Atg14	T	C	14: 47,551,464 (GRCm38)	N144S	probably benign	Het
Cacna1h	A	T	17: 25,383,186 (GRCm38)	M1454K	probably damaging	Het
Catsperb	A	T	12: 101,446,068 (GRCm38)	H138L	possibly damaging	Het
Ccdc129	T	A	6: 55,968,811 (GRCm38)		probably null	Het
Cd200r2	T	A	16: 44,909,571 (GRCm38)	D159E	probably benign	Het
Cd79a	G	T	7: 24,899,262 (GRCm38)	G79C	probably damaging	Het
Ceacam20	A	G	7: 19,978,208 (GRCm38)	H38R	possibly damaging	Het
Cers1	T	C	8: 70,318,297 (GRCm38)	L119P	probably damaging	Het
Ces1f	C	A	8: 93,265,795 (GRCm38)	V343L	probably benign	Het
Ces3a	G	A	8: 105,057,918 (GRCm38)	G511S	possibly damaging	Het
Cyfip2	A	G	11: 46,284,252 (GRCm38)	C98R	probably benign	Het
Cyp2j11	C	A	4: 96,339,876 (GRCm38)	V169L	probably benign	Het
Cyp4f17	A	G	17: 32,528,886 (GRCm38)	T523A	probably benign	Het
Ddx31	T	C	2: 28,886,969 (GRCm38)	S567P	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038 (GRCm38)		probably null	Het
Dsg1b	A	C	18: 20,409,064 (GRCm38)	H876P	probably damaging	Het
Edrf1	G	T	7: 133,658,610 (GRCm38)	M83I	probably damaging	Het
Eno4	T	C	19: 58,960,247 (GRCm38)	F393S	possibly damaging	Het
Eral1	C	T	11: 78,078,357 (GRCm38)	D106N	probably benign	Het
Esp18	G	T	17: 39,408,179 (GRCm38)	R23M	probably benign	Het
Fam184b	C	T	5: 45,539,801 (GRCm38)	V674I	probably benign	Het
Fbxw13	A	C	9: 109,184,157 (GRCm38)	N154K	probably benign	Het
Gtpbp6	A	G	5: 110,107,125 (GRCm38)	V130A	probably damaging	Het
Hc	T	C	2: 35,013,038 (GRCm38)	D1067G	possibly damaging	Het
Ighg1	A	T	12: 113,330,506 (GRCm38)	S6T	unknown	Het
Ikzf3	C	T	11: 98,467,086 (GRCm38)	R475H	probably damaging	Het
Kcmf1	A	T	6: 72,842,930 (GRCm38)	L311*	probably null	Het
Kmt2d	C	A	15: 98,855,086 (GRCm38)	E184D	probably damaging	Het
Lrguk	A	T	6: 34,071,061 (GRCm38)	I314F	probably damaging	Het
Maml2	A	C	9: 13,706,467 (GRCm38)	S370R	probably damaging	Het
Mroh1	C	A	15: 76,432,347 (GRCm38)		probably benign	Het
Mx1	A	T	16: 97,454,147 (GRCm38)	Y235*	probably null	Het
Olfr1269	A	G	2: 90,118,669 (GRCm38)	*310Q	probably null	Het
Pamr1	T	G	2: 102,639,317 (GRCm38)	Y403D	probably damaging	Het
Panx2	A	G	15: 89,068,959 (GRCm38)	E551G	possibly damaging	Het
Patl2	A	G	2: 122,125,281 (GRCm38)	V258A	probably benign	Het
Ppm1m	A	G	9: 106,196,842 (GRCm38)	F255L	probably benign	Het
Prpf40a	G	T	2: 53,156,926 (GRCm38)	T266N	possibly damaging	Het
Psg18	T	A	7: 18,353,425 (GRCm38)	I103F	probably benign	Het
Rpl39-ps	A	G	15: 102,635,148 (GRCm38)		noncoding transcript	Het
Rps6kb1	A	T	11: 86,532,837 (GRCm38)	F106I	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908 (GRCm38)		probably benign	Het
Sardh	G	T	2: 27,239,698 (GRCm38)	T245K	possibly damaging	Het
Shprh	T	G	10: 11,212,330 (GRCm38)	I1619S	possibly damaging	Het
Skint1	G	A	4: 112,025,532 (GRCm38)	V258I	probably benign	Het
Slc27a5	T	C	7: 12,994,942 (GRCm38)	D331G	probably benign	Het
Slc29a2	A	G	19: 5,029,275 (GRCm38)	I309V	probably benign	Het
Slc30a5	C	T	13: 100,821,172 (GRCm38)	V130I	possibly damaging	Het
Slc4a3	C	A	1: 75,552,656 (GRCm38)	A531D	probably damaging	Het
Slc6a16	C	T	7: 45,261,248 (GRCm38)	T399I	probably benign	Het
Slitrk6	T	A	14: 110,750,097 (GRCm38)	H726L	probably benign	Het
Speer4f2	T	A	5: 17,373,219 (GRCm38)	C4S	possibly damaging	Het
Sulf1	T	C	1: 12,796,907 (GRCm38)	V105A	probably benign	Het
Tmem8b	G	A	4: 43,673,992 (GRCm38)	V208I	probably benign	Het
Vmn1r47	T	C	6: 90,022,213 (GRCm38)	L109P	probably damaging	Het
Vmn1r73	C	A	7: 11,756,449 (GRCm38)	Q65K	possibly damaging	Het
Vmn1r76	T	C	7: 11,930,684 (GRCm38)	Y166C	probably damaging	Het
Vmn2r2	T	C	3: 64,126,590 (GRCm38)	T504A	probably benign	Het
Wdr75	C	A	1: 45,812,164 (GRCm38)	A300E	probably benign	Het
Yars	A	G	4: 129,197,246 (GRCm38)	E149G	possibly damaging	Het
Zbtb18	T	C	1: 177,447,205 (GRCm38)	F35L	probably damaging	Het
Zfp366	A	G	13: 99,229,585 (GRCm38)	Y418C	probably damaging	Het

Other mutations in Snx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Snx2	APN	18	53,216,400 (GRCm38)	missense	possibly damaging	0.95
IGL00861:Snx2	APN	18	53,210,797 (GRCm38)	splice site	probably null
IGL01116:Snx2	APN	18	53,194,423 (GRCm38)	splice site	probably benign
IGL01642:Snx2	APN	18	53,216,447 (GRCm38)	missense	probably damaging	0.99
IGL02178:Snx2	APN	18	53,199,785 (GRCm38)	missense	possibly damaging	0.61
IGL02368:Snx2	APN	18	53,189,721 (GRCm38)	missense	probably benign
IGL02597:Snx2	APN	18	53,210,372 (GRCm38)	missense	probably benign	0.09
IGL02964:Snx2	APN	18	53,194,558 (GRCm38)	missense	probably benign	0.00
IGL03372:Snx2	APN	18	53,216,391 (GRCm38)	missense	probably damaging	1.00
blanched	UTSW	18	53,194,444 (GRCm38)	missense	probably damaging	0.98
bleached	UTSW	18	53,197,925 (GRCm38)	splice site	probably null
R0332:Snx2	UTSW	18	53,212,911 (GRCm38)	missense	probably benign	0.01
R0723:Snx2	UTSW	18	53,210,372 (GRCm38)	missense	probably benign	0.09
R0746:Snx2	UTSW	18	53,197,889 (GRCm38)	missense	possibly damaging	0.90
R0826:Snx2	UTSW	18	53,194,522 (GRCm38)	missense	probably benign	0.00
R0894:Snx2	UTSW	18	53,176,416 (GRCm38)	missense	probably benign
R0970:Snx2	UTSW	18	53,210,690 (GRCm38)	splice site	probably benign
R1897:Snx2	UTSW	18	53,197,878 (GRCm38)	missense	probably damaging	0.99
R2049:Snx2	UTSW	18	53,194,444 (GRCm38)	missense	probably damaging	0.98
R2910:Snx2	UTSW	18	53,199,874 (GRCm38)	missense	probably damaging	0.99
R2911:Snx2	UTSW	18	53,199,874 (GRCm38)	missense	probably damaging	0.99
R4460:Snx2	UTSW	18	53,176,444 (GRCm38)	missense	probably benign	0.31
R5225:Snx2	UTSW	18	53,189,712 (GRCm38)	missense	possibly damaging	0.91
R5352:Snx2	UTSW	18	53,197,925 (GRCm38)	splice site	probably null
R5576:Snx2	UTSW	18	53,210,750 (GRCm38)	missense	probably benign	0.33
R5965:Snx2	UTSW	18	53,194,462 (GRCm38)	nonsense	probably null
R6063:Snx2	UTSW	18	53,209,625 (GRCm38)	nonsense	probably null
R6222:Snx2	UTSW	18	53,199,824 (GRCm38)	nonsense	probably null
R6291:Snx2	UTSW	18	53,209,665 (GRCm38)	critical splice donor site	probably null
R6890:Snx2	UTSW	18	53,212,879 (GRCm38)	missense	probably damaging	1.00
R7380:Snx2	UTSW	18	53,194,568 (GRCm38)	missense	probably benign
R8081:Snx2	UTSW	18	53,216,387 (GRCm38)	missense	probably benign	0.13
R8363:Snx2	UTSW	18	53,197,864 (GRCm38)	nonsense	probably null
R9451:Snx2	UTSW	18	53,210,343 (GRCm38)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- CTTATTGAGTTCAGTTCTCAGCTAC -3'
(R):5'- TTCTGTTTTGAGACAGCCTAGC -3'

Sequencing Primer
(F):5'- TACATCAGTTGACCACCGTGG -3'
(R):5'- TTTTGAGACAGCCTAGCGTCAGAC -3'

Posted On

2016-09-06