Incidental Mutation 'R9451:Snx9'
ID 714289
Institutional Source Beutler Lab
Gene Symbol Snx9
Ensembl Gene ENSMUSG00000002365
Gene Name sorting nexin 9
Synonyms SH3PX1, SDP1
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.868) question?
Stock # R9451 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 5891604-5982229 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 5949768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 156 (P156Q)
Ref Sequence ENSEMBL: ENSMUSP00000002436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002436]
AlphaFold Q91VH2
PDB Structure Solution structure of the SH3 domain from mouse sorting nexin-9 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000002436
AA Change: P156Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000002436
Gene: ENSMUSG00000002365
AA Change: P156Q

DomainStartEndE-ValueType
SH3 3 61 1.51e-16 SMART
low complexity region 84 100 N/A INTRINSIC
low complexity region 160 170 N/A INTRINSIC
PX 247 357 4.15e-23 SMART
Pfam:BAR_3_WASP_bdg 358 593 2.4e-120 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (73/73)
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 phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein does not contain a coiled coil region, like some family members, but does contain a SRC homology domain near its N-terminus. The encoded protein is reported to have a variety of interaction partners, including of adaptor protein 2 , dynamin, tyrosine kinase non-receptor 2, Wiskott-Aldrich syndrome-like, and ARP3 actin-related protein 3. The encoded protein is implicated in several stages of intracellular trafficking, including endocytosis, macropinocytosis, and F-actin nucleation. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh8a1 T A 10: 21,265,032 (GRCm39) S220T probably benign Het
Ankrd66 A G 17: 43,845,811 (GRCm39) V192A probably benign Het
Aoc1l3 A G 6: 48,965,774 (GRCm39) Y594C probably damaging Het
Atp1a2 A G 1: 172,103,494 (GRCm39) Y1009H probably benign Het
Bptf A C 11: 106,935,411 (GRCm39) M142R probably damaging Het
Brwd1 C T 16: 95,845,703 (GRCm39) R740Q probably damaging Het
C3 A G 17: 57,531,169 (GRCm39) M339T probably benign Het
Catsperg1 A G 7: 28,897,772 (GRCm39) probably null Het
Cep295nl T A 11: 118,224,446 (GRCm39) K133* probably null Het
Copg2 A T 6: 30,793,786 (GRCm39) probably benign Het
Coro7 A T 16: 4,488,402 (GRCm39) D89E probably damaging Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Ddx54 G T 5: 120,765,209 (GRCm39) R826L probably damaging Het
Dlg4 G T 11: 69,922,065 (GRCm39) K162N probably damaging Het
Dna2 T A 10: 62,790,072 (GRCm39) L185H probably benign Het
Dock9 C T 14: 121,787,601 (GRCm39) probably benign Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Etl4 A G 2: 20,813,926 (GRCm39) I1322V probably benign Het
Exd1 T C 2: 119,355,064 (GRCm39) K284E possibly damaging Het
Flnc A G 6: 29,445,462 (GRCm39) T786A probably damaging Het
Gm29106 A C 1: 118,127,644 (GRCm39) E445D possibly damaging Het
Gm5592 T C 7: 40,935,876 (GRCm39) L126P probably damaging Het
Grep1 A G 17: 23,936,187 (GRCm39) Y19H unknown Het
Gtf3c2 T G 5: 31,325,773 (GRCm39) T389P probably damaging Het
Hhipl1 C A 12: 108,294,100 (GRCm39) R669S probably benign Het
Hivep1 A G 13: 42,337,252 (GRCm39) T2444A probably benign Het
Hspg2 A G 4: 137,238,380 (GRCm39) E289G probably damaging Het
Htatip2 C A 7: 49,408,987 (GRCm39) T9K unknown Het
Ifngr1 T C 10: 19,483,041 (GRCm39) V265A possibly damaging Het
Ift140 A G 17: 25,252,925 (GRCm39) N359D probably benign Het
Mat1a A G 14: 40,836,803 (GRCm39) R178G probably damaging Het
Mknk2 C T 10: 80,505,496 (GRCm39) R154H probably benign Het
Myh14 C T 7: 44,273,743 (GRCm39) probably null Het
Myof A G 19: 37,966,096 (GRCm39) probably null Het
Nfe2l1 G T 11: 96,718,453 (GRCm39) D27E probably damaging Het
Or1ad6 A G 11: 50,859,950 (GRCm39) Y35C Het
Or4a15 A T 2: 89,193,243 (GRCm39) C177S probably damaging Het
Or4k51 T C 2: 111,585,218 (GRCm39) V208A probably benign Het
Or5p61 A G 7: 107,758,468 (GRCm39) V204A probably benign Het
Or8s5 A G 15: 98,238,144 (GRCm39) V242A possibly damaging Het
Plec C A 15: 76,067,987 (GRCm39) Q1139H unknown Het
Plxna2 T A 1: 194,326,692 (GRCm39) S209T probably benign Het
Plxnd1 T C 6: 115,940,277 (GRCm39) E1369G possibly damaging Het
Psd3 T C 8: 68,363,487 (GRCm39) I3V unknown Het
Pwp1 T A 10: 85,714,428 (GRCm39) F195L probably damaging Het
Rab3ip C T 10: 116,775,354 (GRCm39) M1I probably null Het
Rad54l2 T C 9: 106,585,488 (GRCm39) K759R probably benign Het
Rims2 G T 15: 39,300,724 (GRCm39) V344L probably damaging Het
Robo1 G A 16: 72,803,718 (GRCm39) R1088Q probably benign Het
Rtf2 A G 2: 172,282,745 (GRCm39) probably benign Het
Serhl A C 15: 82,987,167 (GRCm39) K131N possibly damaging Het
Sidt1 T A 16: 44,075,392 (GRCm39) probably null Het
Slc27a1 T A 8: 72,032,808 (GRCm39) Y248* probably null Het
Slitrk3 T A 3: 72,958,616 (GRCm39) E52V possibly damaging Het
Snx2 T C 18: 53,343,415 (GRCm39) V271A probably benign Het
Spag6 C A 2: 18,715,369 (GRCm39) Y71* probably null Het
Speer4a3 T A 5: 26,156,569 (GRCm39) K137* probably null Het
Speg A G 1: 75,394,377 (GRCm39) D1724G probably damaging Het
Syt7 A G 19: 10,421,532 (GRCm39) N572S probably damaging Het
Thoc2l C A 5: 104,668,644 (GRCm39) S1055R probably benign Het
Ticam2 A G 18: 46,693,766 (GRCm39) I107T probably damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmem268 G A 4: 63,488,256 (GRCm39) V135M probably benign Het
Toporsl A G 4: 52,611,663 (GRCm39) T519A possibly damaging Het
Trim43b G A 9: 88,973,608 (GRCm39) L42F possibly damaging Het
Ttf2 A C 3: 100,852,089 (GRCm39) V1019G probably damaging Het
Ugt3a1 A G 15: 9,292,158 (GRCm39) D97G probably benign Het
Uncx A G 5: 139,532,475 (GRCm39) N180S probably damaging Het
Vmn2r23 A G 6: 123,710,352 (GRCm39) T552A probably damaging Het
Vmn2r51 A T 7: 9,833,816 (GRCm39) H407Q probably damaging Het
Wdfy4 C T 14: 32,855,518 (GRCm39) E699K Het
Wdr95 A G 5: 149,504,165 (GRCm39) T324A probably benign Het
Other mutations in Snx9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Snx9 APN 17 5,949,636 (GRCm39) missense probably benign
IGL00417:Snx9 APN 17 5,942,172 (GRCm39) missense probably benign 0.03
IGL01827:Snx9 APN 17 5,937,287 (GRCm39) missense probably benign 0.04
IGL02531:Snx9 APN 17 5,942,095 (GRCm39) missense probably benign
IGL02710:Snx9 APN 17 5,958,873 (GRCm39) missense probably damaging 1.00
IGL03088:Snx9 APN 17 5,974,885 (GRCm39) missense probably benign
san_angelo UTSW 17 5,942,084 (GRCm39) nonsense probably null
PIT4495001:Snx9 UTSW 17 5,970,401 (GRCm39) missense possibly damaging 0.54
R0555:Snx9 UTSW 17 5,968,688 (GRCm39) missense probably damaging 0.97
R1015:Snx9 UTSW 17 5,970,402 (GRCm39) missense probably benign 0.12
R1065:Snx9 UTSW 17 5,952,636 (GRCm39) splice site probably benign
R1421:Snx9 UTSW 17 5,952,759 (GRCm39) missense probably benign 0.45
R1657:Snx9 UTSW 17 5,968,711 (GRCm39) missense possibly damaging 0.65
R1823:Snx9 UTSW 17 5,970,946 (GRCm39) missense probably damaging 1.00
R1914:Snx9 UTSW 17 5,978,531 (GRCm39) missense possibly damaging 0.65
R3703:Snx9 UTSW 17 5,978,475 (GRCm39) splice site probably null
R3871:Snx9 UTSW 17 5,942,056 (GRCm39) missense probably benign 0.00
R4375:Snx9 UTSW 17 5,958,901 (GRCm39) nonsense probably null
R4412:Snx9 UTSW 17 5,958,669 (GRCm39) missense probably damaging 0.96
R4669:Snx9 UTSW 17 5,977,499 (GRCm39) missense probably damaging 1.00
R4974:Snx9 UTSW 17 5,952,794 (GRCm39) splice site probably null
R5038:Snx9 UTSW 17 5,937,348 (GRCm39) missense probably benign 0.12
R5137:Snx9 UTSW 17 5,978,528 (GRCm39) missense probably damaging 1.00
R5369:Snx9 UTSW 17 5,970,855 (GRCm39) missense probably damaging 1.00
R5459:Snx9 UTSW 17 5,970,913 (GRCm39) missense probably damaging 0.99
R5624:Snx9 UTSW 17 5,942,084 (GRCm39) nonsense probably null
R5847:Snx9 UTSW 17 5,974,896 (GRCm39) missense possibly damaging 0.94
R5953:Snx9 UTSW 17 5,958,678 (GRCm39) missense probably damaging 1.00
R5953:Snx9 UTSW 17 5,958,677 (GRCm39) missense probably damaging 1.00
R6263:Snx9 UTSW 17 5,937,324 (GRCm39) missense probably damaging 0.98
R6481:Snx9 UTSW 17 5,972,484 (GRCm39) critical splice donor site probably null
R6491:Snx9 UTSW 17 5,970,437 (GRCm39) missense probably benign 0.00
R7873:Snx9 UTSW 17 5,968,751 (GRCm39) missense possibly damaging 0.81
R8471:Snx9 UTSW 17 5,940,365 (GRCm39) missense probably damaging 1.00
R9748:Snx9 UTSW 17 5,949,670 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCTTTCCACACAGGTTGGTG -3'
(R):5'- TTAGTGAGCAAGTGCAGACGC -3'

Sequencing Primer
(F):5'- TGGTGGTGGCAATGACCC -3'
(R):5'- TACTCTTAGCAATAAACGGGCG -3'
Posted On 2022-06-15