Incidental Mutation 'R2911:Snx2'
ID 261275
Institutional Source Beutler Lab
Gene Symbol Snx2
Ensembl Gene ENSMUSG00000034484
Gene Name sorting nexin 2
Synonyms 0610030A03Rik
MMRRC Submission 040498-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2911 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 53309388-53353937 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53332946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 207 (P207S)
Ref Sequence ENSEMBL: ENSMUSP00000039243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037850]
AlphaFold Q9CWK8
Predicted Effect probably damaging
Transcript: ENSMUST00000037850
AA Change: P207S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039243
Gene: ENSMUSG00000034484
AA Change: P207S

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 0.6677 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,378,982 (GRCm39) T645A probably damaging Het
Adam10 C T 9: 70,626,005 (GRCm39) S91L probably damaging Het
Ahnak A G 19: 8,989,018 (GRCm39) D3434G probably damaging Het
Ankrd11 A T 8: 123,635,537 (GRCm39) D32E probably damaging Het
Cacna1b A T 2: 24,497,553 (GRCm39) probably null Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cep104 T A 4: 154,079,884 (GRCm39) probably null Het
Clstn2 A G 9: 97,414,775 (GRCm39) V373A probably damaging Het
Cyp2c65 T G 19: 39,076,126 (GRCm39) I359M probably damaging Het
Cyp4a12b A T 4: 115,290,723 (GRCm39) K282* probably null Het
Ddx1 C T 12: 13,281,441 (GRCm39) probably null Het
Dnah7a A T 1: 53,466,983 (GRCm39) probably null Het
Dzip1l T C 9: 99,537,655 (GRCm39) V419A probably benign Het
Epha3 A C 16: 63,472,775 (GRCm39) V370G probably benign Het
Fbxo38 T C 18: 62,652,878 (GRCm39) D523G probably benign Het
Fryl T C 5: 73,207,799 (GRCm39) D2457G probably damaging Het
Gm379 A C X: 107,708,371 (GRCm39) F43V possibly damaging Het
Grhl3 T C 4: 135,286,457 (GRCm39) I75V probably benign Het
Lcp2 G A 11: 34,018,970 (GRCm39) probably null Het
Lipo3 T A 19: 33,556,767 (GRCm39) I220F probably benign Het
Lrp1b T C 2: 41,396,704 (GRCm39) E340G probably benign Het
Lypd8l G A 11: 58,499,252 (GRCm39) Q189* probably null Het
Mbtps1 A G 8: 120,272,776 (GRCm39) I123T possibly damaging Het
Ndc80 A T 17: 71,807,371 (GRCm39) S528R probably benign Het
Odf2l A C 3: 144,830,084 (GRCm39) I19L probably benign Het
Or10d3 T C 9: 39,462,117 (GRCm39) I17V possibly damaging Het
Or5h25 C T 16: 58,930,544 (GRCm39) R143H probably benign Het
Or7e177 A G 9: 20,211,775 (GRCm39) K94R possibly damaging Het
Pigr A G 1: 130,777,270 (GRCm39) D692G probably damaging Het
Reep2 T C 18: 34,978,743 (GRCm39) probably null Het
Rin3 T G 12: 102,339,843 (GRCm39) S598A probably benign Het
Rreb1 A T 13: 38,132,896 (GRCm39) E1690D probably benign Het
Rubcnl C T 14: 75,278,248 (GRCm39) T344I probably benign Het
Shcbp1l C A 1: 153,304,372 (GRCm39) L144I probably damaging Het
Sox17 A T 1: 4,563,354 (GRCm39) D92E probably damaging Het
Spata21 A G 4: 140,830,393 (GRCm39) M288V possibly damaging Het
Sra1 T C 18: 36,809,238 (GRCm39) D273G possibly damaging Het
Syt7 T C 19: 10,420,799 (GRCm39) I448T probably benign Het
Tac1 A G 6: 7,559,097 (GRCm39) probably null Het
Tgs1 C A 4: 3,585,616 (GRCm39) N164K probably benign Het
Tmem72 T A 6: 116,675,292 (GRCm39) I67F possibly damaging Het
Ythdc1 T C 5: 86,964,418 (GRCm39) S88P possibly 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
R0332:Snx2 UTSW 18 53,345,983 (GRCm39) missense probably benign 0.01
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
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'- CTCTGATTCATTTGCAAAACAGAGG -3'
(R):5'- TTTAAGGATGTGTGGGACCAAC -3'

Sequencing Primer
(F):5'- CCACTTACAGTCATGTGCAGTAG -3'
(R):5'- TGTGGGACCAACACAGCAC -3'
Posted On 2015-01-23