Incidental Mutation 'IGL02267:Exoc2'
ID286943
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exoc2
Ensembl Gene ENSMUSG00000021357
Gene Nameexocyst complex component 2
Synonyms2410030I24Rik, Sec5l1, Sec5
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.955) question?
Stock #IGL02267
Quality Score
Status
Chromosome13
Chromosomal Location30813919-30974093 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30815321 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 918 (S918P)
Ref Sequence ENSEMBL: ENSMUSP00000100010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021785] [ENSMUST00000102946]
Predicted Effect probably benign
Transcript: ENSMUST00000021785
AA Change: S918P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021785
Gene: ENSMUSG00000021357
AA Change: S918P

DomainStartEndE-ValueType
Pfam:TIG 8 92 3.2e-10 PFAM
Pfam:Sec5 198 377 3.6e-59 PFAM
low complexity region 572 585 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102946
AA Change: S918P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100010
Gene: ENSMUSG00000021357
AA Change: S918P

DomainStartEndE-ValueType
Pfam:TIG 8 92 2.5e-10 PFAM
Pfam:Sec5 198 377 7.5e-59 PFAM
low complexity region 572 585 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,792,678 Q929R probably benign Het
Aplf A T 6: 87,658,964 D122E probably damaging Het
Atp2a3 T A 11: 72,987,984 L874Q probably damaging Het
Atp2b2 A T 6: 113,793,730 L406Q probably damaging Het
Atp6v1b1 A G 6: 83,756,909 D374G probably benign Het
Bcas1 T A 2: 170,378,788 R239* probably null Het
Bhmt2 A G 13: 93,669,346 V56A probably damaging Het
Cage1 T C 13: 38,023,257 E204G probably damaging Het
Ccdc157 G A 11: 4,144,035 A532V probably benign Het
Cd300lb G A 11: 114,928,477 R109* probably null Het
Clca4c-ps T C 3: 144,879,755 noncoding transcript Het
Ctnna3 G T 10: 64,945,998 V747F probably benign Het
Cyp2c29 A T 19: 39,330,422 I488F probably benign Het
Cyp3a25 T C 5: 145,998,552 M85V possibly damaging Het
Dnah7b T A 1: 46,226,930 Y2220N probably damaging Het
Espl1 A G 15: 102,315,664 I1217V probably benign Het
Fer1l4 T A 2: 156,031,252 I1303F possibly damaging Het
Gm28047 A T 15: 102,547,227 I234K probably damaging Het
Gm4951 T G 18: 60,246,398 V335G probably damaging Het
Gpcpd1 A G 2: 132,568,710 V19A probably damaging Het
Gprin3 A G 6: 59,354,473 V283A probably benign Het
Grb14 A G 2: 64,953,616 Y56H probably damaging Het
Greb1 A G 12: 16,717,208 F331S probably benign Het
Jkamp A G 12: 72,094,817 Y198C probably damaging Het
Klk1b11 G T 7: 43,999,741 C234F probably damaging Het
Nacad T C 11: 6,602,649 T181A probably benign Het
Olfr165 A T 16: 19,407,164 L285Q possibly damaging Het
Olfr382 A G 11: 73,516,549 S217P probably benign Het
Olfr987 T A 2: 85,331,121 Y259F probably damaging Het
Pitpnm3 A T 11: 72,071,448 I227N probably benign Het
Pnn A G 12: 59,070,209 E189G probably damaging Het
Pnpla2 C A 7: 141,458,209 P197T probably damaging Het
Pnpla6 A G 8: 3,517,327 T62A probably benign Het
Ptprq G T 10: 107,646,558 D1051E probably damaging Het
Rag2 C T 2: 101,630,031 R229C probably damaging Het
Serinc1 A T 10: 57,523,108 I196N probably damaging Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc26a9 T C 1: 131,752,845 C43R probably damaging Het
Slc2a3 A T 6: 122,739,972 Y44N probably benign Het
Smad5 T G 13: 56,735,790 probably benign Het
Sugct C A 13: 17,644,865 V132F possibly damaging Het
Supt6 T C 11: 78,226,204 E568G possibly damaging Het
Tfpt T C 7: 3,628,983 T43A probably damaging Het
Timp4 A T 6: 115,247,279 V143E possibly damaging Het
Tns1 T C 1: 73,992,131 D275G possibly damaging Het
Trib1 A G 15: 59,651,600 E161G probably damaging Het
Trpc7 A T 13: 56,860,930 L308Q probably damaging Het
Ush1c A T 7: 46,209,298 V522E possibly damaging Het
Usp28 T C 9: 49,023,965 V449A probably damaging Het
Vmn1r82 A G 7: 12,305,346 Y64C probably damaging Het
Wwox G A 8: 114,712,065 M290I probably benign Het
Other mutations in Exoc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Exoc2 APN 13 30820626 missense probably benign 0.17
IGL01839:Exoc2 APN 13 30906799 missense probably damaging 1.00
IGL02092:Exoc2 APN 13 30875277 missense probably benign 0.09
IGL02245:Exoc2 APN 13 30906859 missense probably benign 0.10
IGL02478:Exoc2 APN 13 30927420 missense probably benign
IGL02500:Exoc2 APN 13 30911196 missense probably damaging 1.00
IGL03081:Exoc2 APN 13 30900902 missense probably benign 0.28
IGL03112:Exoc2 APN 13 30906587 splice site probably benign
IGL03409:Exoc2 APN 13 30940737 utr 5 prime probably benign
R0284:Exoc2 UTSW 13 30877625 splice site probably benign
R0452:Exoc2 UTSW 13 30886327 splice site probably benign
R0826:Exoc2 UTSW 13 30856797 critical splice acceptor site probably null
R1251:Exoc2 UTSW 13 30886276 missense probably benign 0.03
R1367:Exoc2 UTSW 13 30882273 nonsense probably null
R1501:Exoc2 UTSW 13 30935502 missense probably benign 0.01
R1593:Exoc2 UTSW 13 30856761 missense possibly damaging 0.64
R1839:Exoc2 UTSW 13 30906497 splice site probably benign
R1872:Exoc2 UTSW 13 30822661 missense probably benign 0.17
R2064:Exoc2 UTSW 13 30935561 missense probably benign 0.00
R2070:Exoc2 UTSW 13 30815370 missense probably benign 0.00
R2227:Exoc2 UTSW 13 30864884 missense probably benign
R2507:Exoc2 UTSW 13 30882365 missense possibly damaging 0.55
R3965:Exoc2 UTSW 13 30877582 missense probably benign 0.00
R4601:Exoc2 UTSW 13 30882268 missense probably benign 0.05
R4914:Exoc2 UTSW 13 30876813 missense probably benign 0.21
R5299:Exoc2 UTSW 13 30871918 intron probably null
R5410:Exoc2 UTSW 13 30864856 missense probably damaging 0.98
R5461:Exoc2 UTSW 13 30925755 missense possibly damaging 0.66
R5956:Exoc2 UTSW 13 30820623 missense probably benign 0.03
R6056:Exoc2 UTSW 13 30900829 missense probably benign 0.03
R6107:Exoc2 UTSW 13 30876797 missense probably benign
R6548:Exoc2 UTSW 13 30826064 missense possibly damaging 0.86
R6692:Exoc2 UTSW 13 30935507 missense probably benign 0.09
R6969:Exoc2 UTSW 13 30911178 missense probably benign
R7386:Exoc2 UTSW 13 30906663 intron probably null
R7461:Exoc2 UTSW 13 30882272 missense probably benign 0.32
R7467:Exoc2 UTSW 13 30925733 missense probably damaging 0.98
R7473:Exoc2 UTSW 13 30822630 critical splice donor site probably null
R7613:Exoc2 UTSW 13 30882272 missense probably benign 0.32
R7767:Exoc2 UTSW 13 30876769 missense probably benign 0.01
R7793:Exoc2 UTSW 13 30911178 missense probably benign 0.00
R7795:Exoc2 UTSW 13 30876773 nonsense probably null
Posted On2015-04-16