Incidental Mutation 'R3769:Snx15'
ID 273196
Institutional Source Beutler Lab
Gene Symbol Snx15
Ensembl Gene ENSMUSG00000024787
Gene Name sorting nexin 15
Synonyms E130013C21Rik, 1500032B08Rik
MMRRC Submission 040746-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3769 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6169429-6178334 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 6173984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025702] [ENSMUST00000138931] [ENSMUST00000154601]
AlphaFold Q91WE1
Predicted Effect probably benign
Transcript: ENSMUST00000025702
SMART Domains Protein: ENSMUSP00000025702
Gene: ENSMUSG00000024787

DomainStartEndE-ValueType
PX 8 126 1.78e-22 SMART
low complexity region 140 151 N/A INTRINSIC
MIT 265 337 7.77e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129076
Predicted Effect probably benign
Transcript: ENSMUST00000138931
SMART Domains Protein: ENSMUSP00000114189
Gene: ENSMUSG00000024787

DomainStartEndE-ValueType
PX 8 112 1.69e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150718
Predicted Effect probably benign
Transcript: ENSMUST00000154601
SMART Domains Protein: ENSMUSP00000122740
Gene: ENSMUSG00000024787

DomainStartEndE-ValueType
PX 8 126 1.78e-22 SMART
low complexity region 140 151 N/A INTRINSIC
Blast:MIT 222 251 4e-12 BLAST
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (47/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Overexpression of this gene results in a decrease in the processing of insulin and hepatocyte growth factor receptors to their mature subunits. This decrease is caused by the mislocalization of furin, the endoprotease responsible for cleavage of insulin and hepatocyte growth factor receptors. This protein is involved in endosomal trafficking from the plasma membrane to recycling endosomes or the trans-Golgi network. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ADP-ribosylation factor-like 2 (ARL2) gene. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol9a G C 15: 77,288,596 (GRCm39) T257S probably benign Het
Arhgap23 A T 11: 97,366,932 (GRCm39) D1071V probably damaging Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Ccer1 G A 10: 97,530,414 (GRCm39) G359E probably damaging Het
Cdkal1 T C 13: 29,736,386 (GRCm39) probably null Het
Celf1 T C 2: 90,828,993 (GRCm39) V20A probably damaging Het
Cep350 G A 1: 155,828,950 (GRCm39) T318I probably damaging Het
Chn2 A G 6: 54,267,396 (GRCm39) D159G probably damaging Het
Chst5 T A 8: 112,616,513 (GRCm39) D369V possibly damaging Het
Cmya5 A T 13: 93,233,201 (GRCm39) I629K possibly damaging Het
Cplx4 T C 18: 66,102,998 (GRCm39) T41A probably benign Het
Ddx3x T C X: 13,156,808 (GRCm39) probably benign Het
Dock7 T C 4: 98,859,066 (GRCm39) T1409A probably benign Het
Dpy19l4 T C 4: 11,276,868 (GRCm39) probably null Het
Fgf10 G T 13: 118,918,083 (GRCm39) V124F probably damaging Het
Gm6356 C A 14: 6,971,774 (GRCm38) M120I probably benign Het
Gm7964 T A 7: 83,405,338 (GRCm39) V76D probably damaging Het
Gm826 A G 2: 160,169,165 (GRCm39) V48A unknown Het
Hoxb5 A G 11: 96,194,795 (GRCm39) D119G possibly damaging Het
Ifna7 T C 4: 88,734,964 (GRCm39) V167A probably damaging Het
Itgb2 T C 10: 77,385,802 (GRCm39) V255A possibly damaging Het
Klf3 A G 5: 64,984,560 (GRCm39) probably null Het
Mgl2 T C 11: 70,026,659 (GRCm39) L128P probably damaging Het
Or1ad6 A G 11: 50,860,385 (GRCm39) D180G probably damaging Het
Pdia6 T C 12: 17,320,457 (GRCm39) V32A probably damaging Het
Pex6 G T 17: 47,035,311 (GRCm39) probably null Het
Pla2g5 C G 4: 138,528,746 (GRCm39) C70S probably damaging Het
Pole4 G A 6: 82,599,095 (GRCm39) R119C possibly damaging Het
Polr2c G A 8: 95,586,928 (GRCm39) A65T probably damaging Het
Ptpru C T 4: 131,535,735 (GRCm39) C414Y probably damaging Het
Rhot2 T C 17: 26,059,521 (GRCm39) D407G probably benign Het
Scn5a G A 9: 119,381,142 (GRCm39) probably benign Het
Sh3rf3 A G 10: 58,820,013 (GRCm39) T275A probably benign Het
Slc27a2 A G 2: 126,409,718 (GRCm39) D300G possibly damaging Het
Slc35e1 A T 8: 73,245,714 (GRCm39) I155N possibly damaging Het
Slco1a4 A G 6: 141,785,357 (GRCm39) Y78H probably damaging Het
Top1 A T 2: 160,563,442 (GRCm39) I758F probably damaging Het
U2surp A G 9: 95,375,750 (GRCm39) probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ulk4 A G 9: 121,092,766 (GRCm39) V157A probably benign Het
Urgcp T C 11: 5,667,000 (GRCm39) Y446C probably damaging Het
Vps51 T C 19: 6,126,378 (GRCm39) T125A possibly damaging Het
Ypel1 T C 16: 16,927,532 (GRCm39) H20R probably benign Het
Zfp458 T A 13: 67,405,546 (GRCm39) I298F probably damaging Het
Zfp747l1 A G 7: 126,984,035 (GRCm39) probably benign Het
Other mutations in Snx15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Snx15 APN 19 6,169,915 (GRCm39) missense probably benign 0.00
IGL02102:Snx15 APN 19 6,172,104 (GRCm39) missense possibly damaging 0.69
PIT4418001:Snx15 UTSW 19 6,173,961 (GRCm39) missense probably damaging 1.00
R0079:Snx15 UTSW 19 6,173,943 (GRCm39) missense probably damaging 1.00
R0654:Snx15 UTSW 19 6,171,915 (GRCm39) missense probably benign 0.33
R1499:Snx15 UTSW 19 6,172,094 (GRCm39) missense probably damaging 1.00
R1943:Snx15 UTSW 19 6,178,096 (GRCm39) missense probably damaging 1.00
R2991:Snx15 UTSW 19 6,171,515 (GRCm39) missense probably damaging 0.99
R5117:Snx15 UTSW 19 6,174,181 (GRCm39) critical splice donor site probably null
R5763:Snx15 UTSW 19 6,172,140 (GRCm39) missense probably damaging 0.99
R6219:Snx15 UTSW 19 6,171,538 (GRCm39) missense probably damaging 0.99
R7024:Snx15 UTSW 19 6,170,626 (GRCm39) missense probably damaging 0.98
R7297:Snx15 UTSW 19 6,170,537 (GRCm39) missense probably damaging 1.00
R8139:Snx15 UTSW 19 6,169,946 (GRCm39) missense probably damaging 1.00
R8139:Snx15 UTSW 19 6,169,945 (GRCm39) missense probably damaging 1.00
R8750:Snx15 UTSW 19 6,170,593 (GRCm39) missense probably benign 0.34
Z1088:Snx15 UTSW 19 6,171,441 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCAAAGATGGCTGTTCAGGG -3'
(R):5'- TGTTCCTGTACACATCAGCATC -3'

Sequencing Primer
(F):5'- ATGGCTGTTCAGGGTACAACATC -3'
(R):5'- CTGTACACATCAGCATCAGTAAGGG -3'
Posted On 2015-03-25