Incidental Mutation 'IGL02368:Snx2'
ID290799
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 #IGL02368
Quality Score
Status
Chromosome18
Chromosomal Location53176365-53220860 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 53189721 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 59 (S59P)
Ref Sequence ENSEMBL: ENSMUSP00000039243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037850]
Predicted Effect probably benign
Transcript: ENSMUST00000037850
AA Change: S59P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039243
Gene: ENSMUSG00000034484
AA Change: S59P

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik A G 18: 68,949,989 probably benign Het
Abca17 C A 17: 24,287,793 V1196L probably benign Het
Aldh4a1 G A 4: 139,648,200 W540* probably null Het
Antxr2 G A 5: 97,949,198 P352L probably damaging Het
Atic C T 1: 71,564,565 probably benign Het
Cfhr1 A G 1: 139,547,813 probably benign Het
Clspn T C 4: 126,566,107 S207P probably benign Het
Depdc1b A C 13: 108,363,579 T209P probably benign Het
Exosc3 A G 4: 45,319,671 I117T probably damaging Het
Eya2 T A 2: 165,763,718 D347E probably damaging Het
Gm10748 G T 3: 5,215,001 probably benign Het
Gm17079 T C 14: 51,693,067 N107S possibly damaging Het
Gpr68 A G 12: 100,878,767 F173L probably damaging Het
Hgf G T 5: 16,564,794 V89F possibly damaging Het
Igsf10 A T 3: 59,328,231 S1510T probably benign Het
Il4 A T 11: 53,612,636 N22K probably damaging Het
Izumo2 T G 7: 44,708,837 L32R probably damaging Het
Mark2 A G 19: 7,284,490 L359P probably damaging Het
Myo15b A G 11: 115,877,002 K1376R probably benign Het
Ncam1 G A 9: 49,543,083 R543* probably null Het
Pax2 A G 19: 44,835,409 N347S possibly damaging Het
Ppargc1a A G 5: 51,474,156 L377P probably benign Het
Pum3 A G 19: 27,425,957 V48A probably benign Het
Rad1 T C 15: 10,493,251 Y255H probably benign Het
Rimbp2 C T 5: 128,788,154 probably null Het
Rpn2 A G 2: 157,302,408 N330S probably benign Het
Rptn A G 3: 93,397,171 S604G probably benign Het
Rragc A G 4: 123,921,111 D200G probably benign Het
Slco4a1 T G 2: 180,473,128 F615V probably damaging Het
Timp4 A T 6: 115,246,399 probably null Het
Tln2 A G 9: 67,240,810 probably benign Het
Txnrd1 C A 10: 82,895,974 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
IGL01642:Snx2 APN 18 53216447 missense probably damaging 0.99
IGL02178:Snx2 APN 18 53199785 missense possibly damaging 0.61
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 On2015-04-16