Incidental Mutation 'IGL03081:Exoc2'
ID 417867
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 # IGL03081
Quality Score
Status
Chromosome 13
Chromosomal Location 30813919-30974093 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30900902 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 359 (Y359H)
Ref Sequence ENSEMBL: ENSMUSP00000100010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021785] [ENSMUST00000102946]
AlphaFold Q9D4H1
Predicted Effect probably benign
Transcript: ENSMUST00000021785
AA Change: Y359H

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000021785
Gene: ENSMUSG00000021357
AA Change: Y359H

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: Y359H

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000100010
Gene: ENSMUSG00000021357
AA Change: Y359H

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: 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 C A 19: 43,782,402 probably benign Het
Acan T G 7: 79,098,543 S1021A probably benign Het
Adamts6 A G 13: 104,444,956 probably benign Het
Apc2 A G 10: 80,312,252 K1018E probably damaging Het
Arhgef28 A T 13: 98,029,373 probably benign Het
Atp2b1 T C 10: 98,994,813 probably benign Het
Cct6b A T 11: 82,764,169 L20* probably null Het
Cd300ld2 G A 11: 115,012,542 probably benign Het
Cdc23 T G 18: 34,636,704 K454T probably damaging Het
Cdh20 A T 1: 104,941,257 I158F probably damaging Het
Cdk14 C T 5: 4,949,527 probably benign Het
Ces1d C A 8: 93,169,718 probably null Het
Clec2i A T 6: 128,894,765 Y113F probably damaging Het
Dmpk T A 7: 19,087,533 S239T probably damaging Het
Dnah8 T C 17: 30,686,373 probably benign Het
Eya1 A T 1: 14,183,191 F520L possibly damaging Het
Fgfr1op2 A T 6: 146,597,319 I217F probably damaging Het
Gm12258 A G 11: 58,858,259 N87D probably benign Het
Gp6 A G 7: 4,371,648 S225P probably benign Het
Hdac7 T C 15: 97,798,306 Y619C probably damaging Het
Lars A G 18: 42,210,091 I1087T probably benign Het
Lrrc37a G T 11: 103,456,595 H3091Q unknown Het
Mcm3ap T C 10: 76,470,316 S88P possibly damaging Het
Mrps23 G A 11: 88,210,217 R117Q probably benign Het
Nbea T C 3: 56,079,918 S384G probably damaging Het
Ndufs4 A T 13: 114,307,837 I135N possibly damaging Het
Noto T C 6: 85,424,109 F40S probably damaging Het
Nr5a1 A T 2: 38,710,532 V41D possibly damaging Het
Olfr914 C T 9: 38,606,870 A135V probably benign Het
Papola T A 12: 105,818,855 H415Q probably damaging Het
Pcm1 C T 8: 41,275,060 T557I probably damaging Het
Pde11a A T 2: 76,075,930 probably benign Het
Pls1 A G 9: 95,773,643 V352A probably damaging Het
Pygm T C 19: 6,388,821 S226P possibly damaging Het
Rnf17 T A 14: 56,434,371 S273R probably benign Het
Scamp2 T C 9: 57,587,127 V261A possibly damaging Het
Slc7a12 T A 3: 14,481,255 F153L probably benign Het
Smchd1 A T 17: 71,360,191 D1735E probably damaging Het
Stk40 A G 4: 126,123,714 probably null Het
Tas2r124 C T 6: 132,755,534 L269F possibly damaging Het
Tmem260 A C 14: 48,496,293 I216L probably benign Het
Ubr1 C A 2: 120,961,156 A116S possibly damaging Het
Unc13a T C 8: 71,649,549 K991R probably damaging Het
Vmn2r66 T C 7: 85,007,930 Y89C probably benign Het
Vps13b A C 15: 35,875,820 I2784L probably damaging Het
Zbtb26 T A 2: 37,436,600 K141N possibly damaging Het
Zranb1 T A 7: 132,950,397 M259K 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
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 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