Incidental Mutation 'R0332:Snx2'
ID 35955
Institutional Source Beutler Lab
Gene Symbol Snx2
Ensembl Gene ENSMUSG00000034484
Gene Name sorting nexin 2
Synonyms 0610030A03Rik
MMRRC Submission 038541-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0332 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 53309388-53353937 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53345983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 389 (F389L)
Ref Sequence ENSEMBL: ENSMUSP00000039243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037850]
AlphaFold Q9CWK8
Predicted Effect probably benign
Transcript: ENSMUST00000037850
AA Change: F389L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000039243
Gene: ENSMUSG00000034484
AA Change: F389L

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
Meta Mutation Damage Score 0.1182 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 100% (63/63)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 T C 13: 95,505,954 (GRCm39) E211G probably damaging Het
Aox3 A G 1: 58,181,910 (GRCm39) N299S probably benign Het
Arhgef7 T A 8: 11,874,701 (GRCm39) Y777* probably null Het
Atad1 A G 19: 32,679,934 (GRCm39) probably benign Het
Bltp3a T C 17: 28,112,268 (GRCm39) probably null Het
Bop1 A G 15: 76,340,187 (GRCm39) Y130H probably damaging Het
Ccar2 G T 14: 70,379,384 (GRCm39) probably benign Het
Ccdc110 G T 8: 46,396,001 (GRCm39) E631* probably null Het
Cfap54 C T 10: 92,871,319 (GRCm39) D634N probably damaging Het
Cldn8 C T 16: 88,359,246 (GRCm39) silent Het
Cstf3 G T 2: 104,476,812 (GRCm39) probably null Het
Dgkq T C 5: 108,802,965 (GRCm39) probably benign Het
Dsp T A 13: 38,366,204 (GRCm39) L546* probably null Het
Eif3g A T 9: 20,809,280 (GRCm39) probably benign Het
Fam228a T A 12: 4,785,018 (GRCm39) I38F probably damaging Het
Fto A T 8: 92,128,518 (GRCm39) probably benign Het
Gcnt4 G T 13: 97,083,018 (GRCm39) V105L probably benign Het
Gm10644 A G 8: 84,660,210 (GRCm39) L45S possibly damaging Het
Gm7275 A T 16: 47,894,132 (GRCm39) noncoding transcript Het
Gm7579 T C 7: 141,766,112 (GRCm39) S173P unknown Het
Gpatch8 T C 11: 102,372,668 (GRCm39) N290S unknown Het
Grep1 A T 17: 23,933,578 (GRCm39) probably benign Het
Hspb8 T A 5: 116,547,532 (GRCm39) D150V probably damaging Het
Ifitm1 T C 7: 140,548,366 (GRCm39) probably benign Het
Ifnl2 T C 7: 28,208,756 (GRCm39) T99A possibly damaging Het
Ints4 T C 7: 97,166,925 (GRCm39) L577P probably damaging Het
Jph4 T C 14: 55,351,467 (GRCm39) E183G possibly damaging Het
Loxhd1 T A 18: 77,471,526 (GRCm39) probably null Het
Mug1 G A 6: 121,826,856 (GRCm39) probably null Het
Nlrp2 C A 7: 5,320,629 (GRCm39) C836F probably damaging Het
Nup210l G T 3: 90,039,616 (GRCm39) probably benign Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or51h1 A T 7: 102,308,672 (GRCm39) I215F probably damaging Het
Or7e178 A G 9: 20,225,352 (GRCm39) L288S probably benign Het
Phykpl A G 11: 51,477,502 (GRCm39) E98G probably benign Het
Pikfyve A G 1: 65,303,558 (GRCm39) N1648D probably benign Het
Plppr5 A T 3: 117,465,581 (GRCm39) R277S probably benign Het
Ppp1r36 T A 12: 76,474,677 (GRCm39) F86L probably benign Het
Ptgis A T 2: 167,056,753 (GRCm39) L278Q probably damaging Het
Rasa2 A T 9: 96,488,229 (GRCm39) F90Y probably damaging Het
Setd3 T C 12: 108,073,838 (GRCm39) K480E probably benign Het
Slc66a1 C T 4: 139,027,610 (GRCm39) S244N possibly damaging Het
Sulf2 G A 2: 165,931,119 (GRCm39) T296M probably benign Het
Supt16 A T 14: 52,418,614 (GRCm39) H214Q probably damaging Het
Tbx4 A T 11: 85,789,356 (GRCm39) M12L probably benign Het
Tlk1 A T 2: 70,575,909 (GRCm39) probably null Het
Tmprss7 C T 16: 45,501,001 (GRCm39) V267M probably benign Het
Tmub2 G A 11: 102,179,174 (GRCm39) R291H probably damaging Het
Trpm2 A T 10: 77,783,822 (GRCm39) V217E probably damaging Het
Try10 T A 6: 41,331,154 (GRCm39) V10E probably benign Het
Ttn A G 2: 76,596,226 (GRCm39) V20229A probably benign Het
Ttn A C 2: 76,608,538 (GRCm39) probably null Het
Usf2 T A 7: 30,654,604 (GRCm39) M199L possibly damaging Het
Usp37 A T 1: 74,534,869 (GRCm39) S26T possibly damaging Het
Vrk1 G C 12: 106,024,884 (GRCm39) Q253H probably benign Het
Wdr72 A T 9: 74,064,534 (GRCm39) probably null Het
Xrra1 T C 7: 99,525,449 (GRCm39) F123L probably damaging Het
Zfhx3 T C 8: 109,673,255 (GRCm39) I1435T probably damaging Het
Zfp712 T A 13: 67,188,877 (GRCm39) H550L probably damaging Het
Other mutations in Snx2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CAACACAGCCGCCTTTGCTAAG -3'
(R):5'- TGTAACCCTGAAGCCTGAATTGCTTG -3'

Sequencing Primer
(F):5'- CTAAGAGTGCTGCCATGCTAGG -3'
(R):5'- tcctgactggcctagaatttac -3'
Posted On 2013-05-09