Incidental Mutation 'R5464:Snx19'
ID 433169
Institutional Source Beutler Lab
Gene Symbol Snx19
Ensembl Gene ENSMUSG00000031993
Gene Name sorting nexin 19
Synonyms 3526401K03Rik
MMRRC Submission 042850-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R5464 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 30338404-30378029 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30339269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 136 (K136E)
Ref Sequence ENSEMBL: ENSMUSP00000131895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164099]
AlphaFold Q6P4T1
Predicted Effect possibly damaging
Transcript: ENSMUST00000164099
AA Change: K136E

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: K136E

DomainStartEndE-ValueType
transmembrane domain 29 46 N/A INTRINSIC
transmembrane domain 51 73 N/A INTRINSIC
Pfam:PXA 96 269 2.9e-43 PFAM
low complexity region 324 335 N/A INTRINSIC
low complexity region 371 385 N/A INTRINSIC
low complexity region 504 528 N/A INTRINSIC
PX 533 664 1.83e-24 SMART
Pfam:Nexin_C 843 951 1.9e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217174
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Islet antigen-2 (IA-2) is an autoantigen in type 1 diabetes and plays a role in insulin secretion. IA-2 is found in dense-core secretory vesicles and interacts with the product of this gene, a sorting nexin. In mouse pancreatic beta-cells, the encoded protein influenced insulin secretion by stabilizing the number of dense-core secretory vesicles. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G A 16: 4,682,227 (GRCm39) G180E probably damaging Het
Acsl1 T A 8: 46,958,775 (GRCm39) D95E probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adamts16 T A 13: 70,909,868 (GRCm39) H895L probably benign Het
Alox12e T C 11: 70,208,505 (GRCm39) Y483C probably damaging Het
Atp13a2 T A 4: 140,733,381 (GRCm39) F952I probably damaging Het
Crot T G 5: 9,033,690 (GRCm39) probably null Het
Dnaja1 T A 4: 40,724,133 (GRCm39) M98K probably benign Het
Eps8 C T 6: 137,504,473 (GRCm39) G87R probably damaging Het
Flg2 C A 3: 93,109,277 (GRCm39) T435K possibly damaging Het
Gpatch4 T C 3: 87,962,062 (GRCm39) probably null Het
Heatr1 T A 13: 12,448,524 (GRCm39) M1795K probably benign Het
Ift52 T C 2: 162,871,735 (GRCm39) V189A probably benign Het
Kif21a T A 15: 90,878,058 (GRCm39) D250V probably damaging Het
Lrrc66 T C 5: 73,765,622 (GRCm39) T474A probably benign Het
Mcub T C 3: 129,709,365 (GRCm39) E316G probably benign Het
Mettl15 C T 2: 109,021,967 (GRCm39) V113I probably benign Het
Mroh8 T A 2: 157,063,150 (GRCm39) I824F probably damaging Het
Mrpl19 A G 6: 81,938,992 (GRCm39) M270T probably damaging Het
Naa12 C T 18: 80,255,138 (GRCm39) A144V probably damaging Het
Or10d4 A T 9: 39,581,066 (GRCm39) T238S probably damaging Het
Or4ac1-ps1 T C 2: 88,370,599 (GRCm39) Y58C probably null Het
Or51a25 A G 7: 102,373,124 (GRCm39) V191A possibly damaging Het
Or51a39 T C 7: 102,362,889 (GRCm39) T244A probably benign Het
Or51a43 C A 7: 103,717,674 (GRCm39) R188L possibly damaging Het
Or51f5 A G 7: 102,424,640 (GRCm39) K303R probably benign Het
Or52a24 T A 7: 103,381,396 (GRCm39) W88R probably damaging Het
Or5ak23 AAGTCTGGAGTC AAGTC 2: 85,245,057 (GRCm39) probably null Het
Or6x1 T C 9: 40,099,080 (GRCm39) I223T probably damaging Het
Pacs1 T C 19: 5,197,235 (GRCm39) M430V probably benign Het
Piezo2 A G 18: 63,278,176 (GRCm39) S243P probably damaging Het
Ppp1r36 A T 12: 76,474,852 (GRCm39) probably null Het
Prdm16 T A 4: 154,430,601 (GRCm39) probably null Het
Prss36 A T 7: 127,533,405 (GRCm39) W97R probably damaging Het
Psmg4 A T 13: 34,362,047 (GRCm39) I112F probably damaging Het
Ptpru C T 4: 131,499,868 (GRCm39) G1259R probably damaging Het
Rsph4a T C 10: 33,785,337 (GRCm39) I416T possibly damaging Het
Scn2a C T 2: 65,532,100 (GRCm39) R571C probably damaging Het
Selenbp1 A G 3: 94,851,727 (GRCm39) M423V probably benign Het
Serpina3i G A 12: 104,234,751 (GRCm39) A361T possibly damaging Het
Serpinb3c A T 1: 107,199,434 (GRCm39) D362E probably damaging Het
Sf3a3 T C 4: 124,622,033 (GRCm39) probably null Het
Sgcg A G 14: 61,474,304 (GRCm39) V113A possibly damaging Het
Slc3a2 T C 19: 8,691,008 (GRCm39) K74R probably damaging Het
Smco1 T A 16: 32,092,694 (GRCm39) W122R probably damaging Het
Trim32 A G 4: 65,532,625 (GRCm39) N394S probably damaging Het
Uqcrb T C 13: 67,048,889 (GRCm39) D87G probably damaging Het
Wipf3 T C 6: 54,462,308 (GRCm39) S173P possibly damaging Het
Zfp473 T C 7: 44,382,062 (GRCm39) E756G probably damaging Het
Other mutations in Snx19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Snx19 APN 9 30,340,380 (GRCm39) missense possibly damaging 0.92
IGL00498:Snx19 APN 9 30,340,233 (GRCm39) missense possibly damaging 0.92
IGL00718:Snx19 APN 9 30,343,622 (GRCm39) missense probably damaging 1.00
IGL00902:Snx19 APN 9 30,340,028 (GRCm39) missense possibly damaging 0.90
IGL01433:Snx19 APN 9 30,340,067 (GRCm39) missense possibly damaging 0.93
IGL01668:Snx19 APN 9 30,339,119 (GRCm39) missense probably benign
IGL01732:Snx19 APN 9 30,373,649 (GRCm39) missense probably damaging 1.00
IGL01767:Snx19 APN 9 30,374,560 (GRCm39) missense possibly damaging 0.95
IGL02638:Snx19 APN 9 30,343,660 (GRCm39) missense possibly damaging 0.52
IGL02718:Snx19 APN 9 30,343,556 (GRCm39) missense possibly damaging 0.72
IGL02719:Snx19 APN 9 30,343,556 (GRCm39) missense possibly damaging 0.72
IGL02723:Snx19 APN 9 30,343,556 (GRCm39) missense possibly damaging 0.72
IGL02724:Snx19 APN 9 30,343,556 (GRCm39) missense possibly damaging 0.72
IGL02725:Snx19 APN 9 30,343,556 (GRCm39) missense possibly damaging 0.72
IGL02892:Snx19 APN 9 30,339,660 (GRCm39) missense probably damaging 1.00
IGL03061:Snx19 APN 9 30,344,928 (GRCm39) missense probably damaging 0.99
IGL03402:Snx19 APN 9 30,351,430 (GRCm39) missense possibly damaging 0.89
R0125:Snx19 UTSW 9 30,351,515 (GRCm39) missense probably damaging 1.00
R0133:Snx19 UTSW 9 30,339,912 (GRCm39) missense possibly damaging 0.94
R0196:Snx19 UTSW 9 30,344,683 (GRCm39) missense probably damaging 1.00
R0423:Snx19 UTSW 9 30,347,133 (GRCm39) missense probably damaging 1.00
R0635:Snx19 UTSW 9 30,340,107 (GRCm39) missense probably damaging 1.00
R0635:Snx19 UTSW 9 30,340,106 (GRCm39) missense probably damaging 1.00
R1068:Snx19 UTSW 9 30,340,314 (GRCm39) missense probably damaging 0.99
R1570:Snx19 UTSW 9 30,339,639 (GRCm39) missense probably damaging 1.00
R1727:Snx19 UTSW 9 30,344,662 (GRCm39) missense probably damaging 1.00
R1895:Snx19 UTSW 9 30,343,620 (GRCm39) missense probably damaging 1.00
R1907:Snx19 UTSW 9 30,344,872 (GRCm39) missense probably damaging 0.99
R1946:Snx19 UTSW 9 30,343,620 (GRCm39) missense probably damaging 1.00
R1989:Snx19 UTSW 9 30,339,404 (GRCm39) missense possibly damaging 0.93
R2029:Snx19 UTSW 9 30,340,296 (GRCm39) missense probably benign 0.01
R2914:Snx19 UTSW 9 30,344,828 (GRCm39) unclassified probably benign
R3880:Snx19 UTSW 9 30,373,688 (GRCm39) missense probably damaging 1.00
R4223:Snx19 UTSW 9 30,339,744 (GRCm39) missense possibly damaging 0.95
R4415:Snx19 UTSW 9 30,348,779 (GRCm39) missense probably damaging 0.99
R4438:Snx19 UTSW 9 30,339,895 (GRCm39) missense probably benign 0.01
R4484:Snx19 UTSW 9 30,339,192 (GRCm39) missense probably benign 0.01
R4585:Snx19 UTSW 9 30,351,491 (GRCm39) missense probably damaging 1.00
R4765:Snx19 UTSW 9 30,351,453 (GRCm39) missense probably damaging 1.00
R4771:Snx19 UTSW 9 30,344,934 (GRCm39) missense probably damaging 1.00
R4922:Snx19 UTSW 9 30,348,763 (GRCm39) missense probably benign 0.25
R5096:Snx19 UTSW 9 30,340,082 (GRCm39) missense probably benign 0.40
R6469:Snx19 UTSW 9 30,339,039 (GRCm39) missense possibly damaging 0.50
R6886:Snx19 UTSW 9 30,340,231 (GRCm39) missense probably damaging 1.00
R6988:Snx19 UTSW 9 30,340,231 (GRCm39) missense probably damaging 1.00
R7131:Snx19 UTSW 9 30,339,189 (GRCm39) missense probably damaging 1.00
R7268:Snx19 UTSW 9 30,351,473 (GRCm39) missense probably damaging 1.00
R7772:Snx19 UTSW 9 30,340,221 (GRCm39) missense probably damaging 0.99
R8087:Snx19 UTSW 9 30,375,698 (GRCm39) missense probably benign
R8211:Snx19 UTSW 9 30,348,761 (GRCm39) missense probably benign
R8283:Snx19 UTSW 9 30,374,522 (GRCm39) missense possibly damaging 0.56
R9000:Snx19 UTSW 9 30,375,619 (GRCm39) missense unknown
R9383:Snx19 UTSW 9 30,347,196 (GRCm39) missense probably damaging 1.00
R9436:Snx19 UTSW 9 30,374,602 (GRCm39) missense possibly damaging 0.55
R9782:Snx19 UTSW 9 30,340,172 (GRCm39) missense probably benign 0.00
X0019:Snx19 UTSW 9 30,348,662 (GRCm39) missense probably damaging 1.00
X0024:Snx19 UTSW 9 30,339,017 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CTGGAACGATTCATTACCATCACC -3'
(R):5'- GTGCATAAGTGACCTCCGTG -3'

Sequencing Primer
(F):5'- CGATTCATTACCATCACCACCTG -3'
(R):5'- GCTGTAACCTGGCAGTAAGC -3'
Posted On 2016-10-06