Incidental Mutation 'IGL01642:Snx2'
ID93692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx2
Ensembl Gene ENSMUSG00000034484
Gene Namesorting nexin 2
Synonyms0610030A03Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01642
Quality Score
Status
Chromosome18
Chromosomal Location53176365-53220860 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 53216447 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 427 (K427E)
Ref Sequence ENSEMBL: ENSMUSP00000039243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037850]
Predicted Effect probably damaging
Transcript: ENSMUST00000037850
AA Change: K427E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039243
Gene: ENSMUSG00000034484
AA Change: K427E

DomainStartEndE-ValueType
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat A G 11: 116,595,688 T18A possibly damaging Het
Abat A T 16: 8,600,919 I126F possibly damaging Het
Adcy6 G A 15: 98,594,509 A958V possibly damaging Het
Ago2 T C 15: 73,123,390 I447V probably benign Het
Arid1a A G 4: 133,681,844 V1784A unknown Het
Atp1b1 A G 1: 164,457,761 F33L probably benign Het
Bpnt1 G A 1: 185,354,041 V198I probably benign Het
C87414 A G 5: 93,636,295 Y437H possibly damaging Het
Clip3 G A 7: 30,298,862 M244I probably benign Het
Clip3 A T 7: 30,297,069 probably benign Het
Cyp2a22 A T 7: 26,938,759 N107K possibly damaging Het
Cyp2c23 A T 19: 44,005,556 L457Q probably damaging Het
Dbr1 A G 9: 99,575,978 Y17C probably damaging Het
Drc7 G A 8: 95,059,139 V208I probably benign Het
Dst T A 1: 34,189,389 L2021Q probably damaging Het
E2f4 C A 8: 105,301,336 P299T probably damaging Het
Eef1b2 T C 1: 63,177,831 L53P probably damaging Het
Enpp3 T C 10: 24,798,269 T378A probably damaging Het
Eps15 A G 4: 109,366,473 N302S probably benign Het
Esrrg G A 1: 188,210,915 V362M probably benign Het
Gcc2 T A 10: 58,280,612 N1014K probably benign Het
Gm3099 T A 14: 4,000,508 M114K possibly damaging Het
Gnptab C T 10: 88,436,132 T928I possibly damaging Het
Gpd2 A T 2: 57,268,071 R31* probably null Het
Impdh1 T C 6: 29,207,166 T60A possibly damaging Het
Kcnab3 A G 11: 69,330,430 E191G probably benign Het
Kcnh5 A G 12: 74,965,169 S659P probably damaging Het
Kl T C 5: 150,980,869 I362T possibly damaging Het
Kpna4 A G 3: 69,085,784 V414A probably damaging Het
Magi1 G A 6: 93,686,624 P1111S possibly damaging Het
Mb21d1 G A 9: 78,437,398 P247L probably damaging Het
Myo18a A G 11: 77,864,732 D1965G probably benign Het
Nadsyn1 G A 7: 143,797,878 P673S probably damaging Het
Naip2 A G 13: 100,160,937 S864P probably damaging Het
Olfr1330 A G 4: 118,893,461 Y126C probably damaging Het
Olfr453 G T 6: 42,744,552 V172L probably benign Het
Olfr715b A T 7: 107,106,822 I13N possibly damaging Het
Paics T A 5: 76,961,510 probably benign Het
Papss1 G T 3: 131,583,235 probably benign Het
Pax3 A G 1: 78,196,663 probably null Het
Pgbd5 T G 8: 124,384,202 Q159P probably benign Het
Pkd1 A G 17: 24,581,292 Y3009C probably damaging Het
Pla2g4d T C 2: 120,280,636 T161A probably damaging Het
Podxl2 T A 6: 88,843,547 Y521F probably damaging Het
Prmt2 C T 10: 76,222,493 G161S probably damaging Het
Rft1 C T 14: 30,676,868 T265I probably damaging Het
Rims2 T A 15: 39,457,796 L736M probably damaging Het
Slf1 C T 13: 77,049,915 A747T probably benign Het
Tmem131l A T 3: 83,938,050 D424E possibly damaging Het
Tmem2 T A 19: 21,823,901 I794N probably damaging Het
Tnxb A G 17: 34,718,514 T3826A probably damaging Het
Tpp2 T C 1: 43,954,653 Y233H probably damaging Het
Ubl4b C A 3: 107,554,831 E38* probably null Het
Usp5 A T 6: 124,820,453 I486N probably damaging Het
Vmn1r193 A C 13: 22,219,624 L66R probably damaging Het
Vps13b T C 15: 35,792,072 I2162T probably benign Het
Wdr66 T C 5: 123,288,698 V383A possibly damaging Het
Wipf2 T C 11: 98,890,824 V63A probably benign Het
Zfp735 G T 11: 73,710,479 C83F possibly damaging Het
Zfyve26 T C 12: 79,261,574 probably null Het
Other mutations in Snx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Snx2 APN 18 53216400 missense possibly damaging 0.95
IGL00861:Snx2 APN 18 53210797 splice site probably null
IGL01116:Snx2 APN 18 53194423 splice site probably benign
IGL02178:Snx2 APN 18 53199785 missense possibly damaging 0.61
IGL02368:Snx2 APN 18 53189721 missense probably benign
IGL02597:Snx2 APN 18 53210372 missense probably benign 0.09
IGL02964:Snx2 APN 18 53194558 missense probably benign 0.00
IGL03372:Snx2 APN 18 53216391 missense probably damaging 1.00
blanched UTSW 18 53194444 missense probably damaging 0.98
bleached UTSW 18 53197925 splice site probably null
R0332:Snx2 UTSW 18 53212911 missense probably benign 0.01
R0723:Snx2 UTSW 18 53210372 missense probably benign 0.09
R0746:Snx2 UTSW 18 53197889 missense possibly damaging 0.90
R0826:Snx2 UTSW 18 53194522 missense probably benign 0.00
R0894:Snx2 UTSW 18 53176416 missense probably benign
R0970:Snx2 UTSW 18 53210690 splice site probably benign
R1897:Snx2 UTSW 18 53197878 missense probably damaging 0.99
R2049:Snx2 UTSW 18 53194444 missense probably damaging 0.98
R2910:Snx2 UTSW 18 53199874 missense probably damaging 0.99
R2911:Snx2 UTSW 18 53199874 missense probably damaging 0.99
R4460:Snx2 UTSW 18 53176444 missense probably benign 0.31
R5225:Snx2 UTSW 18 53189712 missense possibly damaging 0.91
R5352:Snx2 UTSW 18 53197925 splice site probably null
R5450:Snx2 UTSW 18 53210712 missense probably damaging 0.99
R5576:Snx2 UTSW 18 53210750 missense probably benign 0.33
R5965:Snx2 UTSW 18 53194462 nonsense probably null
R6063:Snx2 UTSW 18 53209625 nonsense probably null
R6222:Snx2 UTSW 18 53199824 nonsense probably null
R6291:Snx2 UTSW 18 53209665 critical splice donor site probably null
R6890:Snx2 UTSW 18 53212879 missense probably damaging 1.00
R7380:Snx2 UTSW 18 53194568 missense probably benign
Posted On2013-12-09