Incidental Mutation 'PIT4418001:Snx15'
ID 555619
Institutional Source Beutler Lab
Gene Symbol Snx15
Ensembl Gene ENSMUSG00000024787
Gene Name sorting nexin 15
Synonyms E130013C21Rik, 1500032B08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4418001 (G1)
Quality Score 109.008
Status Not validated
Chromosome 19
Chromosomal Location 6169429-6178334 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6173961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 52 (Y52C)
Ref Sequence ENSEMBL: ENSMUSP00000025702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025702] [ENSMUST00000138931] [ENSMUST00000154601]
AlphaFold Q91WE1
Predicted Effect probably damaging
Transcript: ENSMUST00000025702
AA Change: Y52C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025702
Gene: ENSMUSG00000024787
AA Change: Y52C

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 probably damaging
Transcript: ENSMUST00000138931
AA Change: Y40C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114189
Gene: ENSMUSG00000024787
AA Change: Y40C

DomainStartEndE-ValueType
PX 8 112 1.69e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154601
AA Change: Y52C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122740
Gene: ENSMUSG00000024787
AA Change: Y52C

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: 93.3%
  • 3x: 90.8%
  • 10x: 84.7%
  • 20x: 71.4%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 T C 6: 88,816,630 (GRCm39) Y100C possibly damaging Het
Adamtsl1 T C 4: 86,161,961 (GRCm39) Y365H probably damaging Het
Atad2b A T 12: 5,074,587 (GRCm39) I1049F probably benign Het
Atg9b A T 5: 24,590,513 (GRCm39) S859T possibly damaging Het
Banp G A 8: 122,732,365 (GRCm39) A380T probably damaging Het
Brinp3 C T 1: 146,777,161 (GRCm39) T536I probably damaging Het
Cacna1c T C 6: 118,631,384 (GRCm39) E1155G Het
Capn12 T C 7: 28,585,961 (GRCm39) S270P probably benign Het
Cbs A T 17: 31,834,495 (GRCm39) I498N possibly damaging Het
Cep68 T C 11: 20,189,731 (GRCm39) K427R probably benign Het
Cobl G A 11: 12,206,240 (GRCm39) T545I possibly damaging Het
Cr2 T A 1: 194,839,760 (GRCm39) M556L probably benign Het
Crebbp A G 16: 3,932,689 (GRCm39) S1068P probably benign Het
D2hgdh C T 1: 93,766,590 (GRCm39) H385Y possibly damaging Het
Dennd1b T C 1: 139,008,999 (GRCm39) L159P Het
Dnajb4 A T 3: 151,899,134 (GRCm39) F31I possibly damaging Het
Dnajc16 A G 4: 141,498,260 (GRCm39) F369S probably damaging Het
Dtl A T 1: 191,273,429 (GRCm39) L493H possibly damaging Het
Efcab5 T A 11: 77,022,877 (GRCm39) Q612L possibly damaging Het
Efr3b A T 12: 4,030,490 (GRCm39) L407Q possibly damaging Het
Ehbp1 T A 11: 22,003,494 (GRCm39) Q1085L probably damaging Het
Ell T C 8: 71,034,331 (GRCm39) V199A probably damaging Het
Elmod2 G T 8: 84,048,171 (GRCm39) T97K probably benign Het
Epn3 T C 11: 94,386,956 (GRCm39) E138G probably damaging Het
Esf1 A T 2: 140,001,697 (GRCm39) F383L probably benign Het
Fam193a A T 5: 34,597,879 (GRCm39) T559S probably damaging Het
Galr2 T C 11: 116,174,084 (GRCm39) V238A probably benign Het
Gm3476 T C 14: 6,118,411 (GRCm38) I237M probably benign Het
Gm5160 A T 18: 14,558,339 (GRCm39) I139F probably damaging Het
Gpr15 T C 16: 58,538,313 (GRCm39) T259A probably benign Het
Iffo1 A G 6: 125,126,746 (GRCm39) K293E possibly damaging Het
Ikbip T A 10: 90,932,395 (GRCm39) H346Q probably benign Het
Il4ra G A 7: 125,175,510 (GRCm39) G573S probably benign Het
Ing2 A T 8: 48,122,125 (GRCm39) M141K probably benign Het
Itga6 T C 2: 71,664,414 (GRCm39) S517P probably benign Het
Itprid1 T G 6: 55,945,330 (GRCm39) S684A probably damaging Het
Kcnab1 A G 3: 65,265,741 (GRCm39) E295G probably benign Het
Klhl21 A C 4: 152,099,835 (GRCm39) Y515S possibly damaging Het
Lcn9 A T 2: 25,714,553 (GRCm39) Y139F probably damaging Het
Mcemp1 G T 8: 3,717,052 (GRCm39) L64F probably null Het
Mos T C 4: 3,870,814 (GRCm39) D334G possibly damaging Het
Myo9b T G 8: 71,775,591 (GRCm39) F338V probably damaging Het
Nefl G A 14: 68,323,979 (GRCm39) V406M probably damaging Het
Nfam1 C A 15: 82,885,689 (GRCm39) R181L probably damaging Het
Ntn5 A G 7: 45,335,925 (GRCm39) R119G probably damaging Het
Or12e10 G T 2: 87,640,938 (GRCm39) C258F probably damaging Het
Or5b101 A T 19: 13,005,095 (GRCm39) Y199* probably null Het
Or7a40 T C 16: 16,491,719 (GRCm39) N42S probably damaging Het
Plch2 A T 4: 155,073,960 (GRCm39) V914E probably damaging Het
Ppp1r12c T C 7: 4,504,266 (GRCm39) Q111R probably null Het
Ptchd3 T A 11: 121,732,566 (GRCm39) Y485* probably null Het
Ptchd4 T A 17: 42,813,980 (GRCm39) I627N probably damaging Het
Retnlb T C 16: 48,637,631 (GRCm39) V19A probably benign Het
Rimbp2 T A 5: 128,857,425 (GRCm39) T809S probably benign Het
Sema6c T A 3: 95,077,401 (GRCm39) D404E possibly damaging Het
Slc22a16 C T 10: 40,479,821 (GRCm39) A631V unknown Het
Snai3 A T 8: 123,183,073 (GRCm39) H157Q probably benign Het
Strbp T C 2: 37,535,504 (GRCm39) E68G probably benign Het
Sun1 T A 5: 139,212,343 (GRCm39) D155E probably damaging Het
Susd2 T C 10: 75,474,183 (GRCm39) D627G probably benign Het
Tas2r108 T A 6: 40,470,614 (GRCm39) I30K probably damaging Het
Tmc2 T C 2: 130,090,571 (GRCm39) V639A probably damaging Het
Trmt1 T C 8: 85,424,299 (GRCm39) Y445H probably damaging Het
Ttn A T 2: 76,597,554 (GRCm39) N19786K probably damaging Het
Vmn1r79 T G 7: 11,910,766 (GRCm39) V216G probably damaging Het
Wdr64 C A 1: 175,571,160 (GRCm39) Y331* probably null Het
Zfyve28 A T 5: 34,390,721 (GRCm39) V180E probably damaging Het
Zic4 C T 9: 91,261,447 (GRCm39) T234I possibly damaging 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
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
R3769:Snx15 UTSW 19 6,173,984 (GRCm39) splice site probably benign
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'- GGCTGTTCAGGGTACAACATC -3'
(R):5'- AGAAGGGCTGTTCCTGTACAC -3'

Sequencing Primer
(F):5'- TGTTCAGGGTACAACATCACACTC -3'
(R):5'- AAGGGCTGTTCCTGTACACATCAG -3'
Posted On 2019-06-07