Incidental Mutation 'IGL03112:Exoc2'
ID 419251
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 # IGL03112
Quality Score
Status
Chromosome 13
Chromosomal Location 30813919-30974093 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 30906587 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: ENSMUST00000220490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221678
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b T C 8: 43,521,512 N151S probably benign Het
Adgre1 G A 17: 57,448,029 probably null Het
AI481877 G T 4: 59,049,355 Q1069K probably benign Het
Apol11a T A 15: 77,517,309 L332Q probably damaging Het
B430306N03Rik C T 17: 48,316,806 S45L probably benign Het
Cend1 G A 7: 141,427,727 T60M probably benign Het
Col6a3 C A 1: 90,811,520 E329* probably null Het
Col9a3 A G 2: 180,607,642 R266G possibly damaging Het
Defb48 C T 14: 62,984,405 probably benign Het
Eps8l2 T G 7: 141,361,736 L640R probably damaging Het
Fam149a C T 8: 45,348,543 V514M possibly damaging Het
Fbxo25 A T 8: 13,921,034 D74V probably benign Het
Gm11733 A G 11: 117,487,140 *126W probably null Het
Grm8 C T 6: 27,363,263 C751Y probably damaging Het
Kctd16 A T 18: 40,258,800 D147V probably benign Het
Lclat1 A T 17: 73,239,747 T220S probably damaging Het
Lgi1 T A 19: 38,284,030 H116Q possibly damaging Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Lsm4 T A 8: 70,678,006 I60N probably damaging Het
Morn1 T A 4: 155,093,144 Y178N probably damaging Het
Mybl2 A G 2: 163,062,536 E89G probably damaging Het
Myo18b T C 5: 112,873,990 E512G probably benign Het
Myrfl A T 10: 116,803,406 S583T probably benign Het
Nek6 A G 2: 38,560,902 I106V probably damaging Het
Oas1a A T 5: 120,898,349 D338E possibly damaging Het
Olfr1113 T A 2: 87,213,600 I236N probably damaging Het
Olfr1249 G A 2: 89,630,334 T188I probably benign Het
Olfr802 A G 10: 129,681,923 V272A probably benign Het
Pitrm1 C A 13: 6,565,008 Q508K probably benign Het
S100b A G 10: 76,259,974 D62G probably damaging Het
Sesn3 A G 9: 14,310,261 H119R probably damaging Het
Sez6l T A 5: 112,473,467 E247V probably damaging Het
Shq1 C A 6: 100,573,613 E455* probably null Het
Slc9b1 T A 3: 135,397,672 M521K probably damaging Het
Supt16 A G 14: 52,176,398 F543L probably damaging Het
Tcf25 T C 8: 123,382,519 probably benign Het
Usp48 C A 4: 137,608,064 Q183K probably damaging Het
Vmn1r178 G A 7: 23,893,661 G45S probably damaging Het
Vmn1r237 T A 17: 21,314,106 Y30* probably null 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
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 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