Incidental Mutation 'IGL03409:Exoc2'
ID 421727
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exoc2
Ensembl Gene ENSMUSG00000021357
Gene Name exocyst complex component 2
Synonyms 2410030I24Rik, Sec5l1, Sec5
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL03409
Quality Score
Status
Chromosome 13
Chromosomal Location 30813919-30974093 bp(-) (GRCm38)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to C at 30940737 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021785] [ENSMUST00000102946]
AlphaFold Q9D4H1
Predicted Effect probably benign
Transcript: ENSMUST00000021785
SMART Domains Protein: ENSMUSP00000021785
Gene: ENSMUSG00000021357

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
SMART Domains Protein: ENSMUSP00000100010
Gene: ENSMUSG00000021357

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223216
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A T 8: 123,965,023 M401K possibly damaging Het
Ablim3 T A 18: 61,845,851 H203L probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Aox2 T G 1: 58,354,429 D1249E possibly damaging Het
Astn2 T C 4: 65,435,186 I1116V possibly damaging Het
Atad3a T C 4: 155,747,350 D489G probably damaging Het
Caln1 G T 5: 130,617,878 G52C probably damaging Het
Cbwd1 A G 19: 24,922,766 V289A probably benign Het
Clcn7 A G 17: 25,155,385 T467A probably damaging Het
Col17a1 A T 19: 47,666,540 I599N possibly damaging Het
Cul2 T A 18: 3,429,593 H547Q probably damaging Het
Cxcl14 T C 13: 56,292,507 T80A probably damaging Het
Dscaml1 T A 9: 45,670,103 Y407N probably damaging Het
Edc4 T A 8: 105,885,116 I108N probably damaging Het
Gm1110 T G 9: 26,896,620 H290P probably benign Het
Gm16223 T A 5: 42,067,993 W12R unknown Het
Herc2 C A 7: 56,228,569 H4623Q probably damaging Het
Igkv18-36 A T 6: 69,992,605 H68Q possibly damaging Het
Kif7 T C 7: 79,707,553 E635G probably benign Het
Olfr1160 A T 2: 88,005,895 N285K probably damaging Het
Olfr1214 A T 2: 88,987,587 I205N possibly damaging Het
Olfr328 T C 11: 58,551,562 K226E probably benign Het
Olfr618 T A 7: 103,597,367 M17K possibly damaging Het
Pam C A 1: 97,864,329 A456S probably benign Het
Pgap3 T C 11: 98,398,938 T76A possibly damaging Het
Pkd2 C A 5: 104,489,349 Y609* probably null Het
Plcg2 A G 8: 117,583,495 D362G probably damaging Het
Polr3h C A 15: 81,917,394 A94S probably benign Het
Rhod T C 19: 4,432,158 D76G probably damaging Het
Rims2 T C 15: 39,456,733 V670A probably damaging Het
Rpap3 G A 15: 97,681,739 T464M possibly damaging Het
Rufy1 T A 11: 50,406,483 I381L probably benign Het
Slc1a4 T C 11: 20,306,506 T442A probably damaging Het
Slc9b1 T C 3: 135,394,909 S472P probably damaging Het
Tmtc3 T C 10: 100,451,432 T501A possibly damaging Het
Tnpo3 C A 6: 29,555,182 D801Y probably damaging Het
Ttc39b T C 4: 83,260,956 Y111C probably damaging Het
Ubr4 A T 4: 139,399,929 R543* probably null Het
Vmn1r74 T G 7: 11,847,313 L180R probably damaging Het
Vps45 T G 3: 96,053,089 E80A probably benign Het
Zfp677 T C 17: 21,396,845 Y55H probably damaging 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
IGL02267:Exoc2 APN 13 30815321 missense probably benign
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
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 splice site 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 splice site 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
R7993:Exoc2 UTSW 13 30906730 critical splice donor site probably null
R8085:Exoc2 UTSW 13 30940703 missense probably damaging 1.00
R8330:Exoc2 UTSW 13 30877573 missense probably benign
R8716:Exoc2 UTSW 13 30911244 missense probably damaging 1.00
R8735:Exoc2 UTSW 13 30906839 missense probably damaging 1.00
R8922:Exoc2 UTSW 13 30871855 missense probably benign 0.05
R9237:Exoc2 UTSW 13 30864875 missense probably benign
R9243:Exoc2 UTSW 13 30925795 missense probably benign 0.03
R9365:Exoc2 UTSW 13 30856714 missense probably benign 0.00
Posted On 2016-08-02