Incidental Mutation 'IGL02092:Exoc2'
ID 279448
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exoc2
Ensembl Gene ENSMUSG00000021357
Gene Name exocyst complex component 2
Synonyms 2410030I24Rik, Sec5l1, Sec5, Gm29675
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL02092
Quality Score
Status
Chromosome 13
Chromosomal Location 30972939-31162082 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31059260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 611 (N611K)
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: N611K

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000021785
Gene: ENSMUSG00000021357
AA Change: N611K

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: N611K

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000100010
Gene: ENSMUSG00000021357
AA Change: N611K

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010H22Rik T A 5: 98,714,627 (GRCm39) probably benign Het
Birc7 A T 2: 180,574,979 (GRCm39) R238S probably benign Het
Cdc42bpg C A 19: 6,366,856 (GRCm39) probably benign Het
Ces3a T C 8: 105,776,962 (GRCm39) probably benign Het
Cntnap2 T C 6: 46,211,137 (GRCm39) F517S probably damaging Het
Cracr2b A G 7: 141,044,869 (GRCm39) E201G probably damaging Het
Cyth3 T C 5: 143,693,140 (GRCm39) probably benign Het
Fign A T 2: 63,810,927 (GRCm39) N114K possibly damaging Het
Gabrb3 A G 7: 57,415,334 (GRCm39) T135A probably damaging Het
Htra3 T C 5: 35,828,416 (GRCm39) K155E probably damaging Het
Inpp5f T C 7: 128,286,948 (GRCm39) L609S probably damaging Het
Kcp C A 6: 29,489,031 (GRCm39) probably null Het
Map4k4 A G 1: 40,025,943 (GRCm39) K311R probably benign Het
Map4k4 A G 1: 40,063,508 (GRCm39) K1228E probably damaging Het
Muc20 G A 16: 32,614,642 (GRCm39) S245F probably damaging Het
Or10ak8 A G 4: 118,774,187 (GRCm39) L159S possibly damaging Het
Or7g33 T A 9: 19,449,046 (GRCm39) Y60F probably damaging Het
Or8b36 T G 9: 37,937,917 (GRCm39) S272A possibly damaging Het
Pi4ka A G 16: 17,136,360 (GRCm39) M892T probably benign Het
Ptpn22 A G 3: 103,784,637 (GRCm39) T234A probably damaging Het
Sema4g G A 19: 44,981,078 (GRCm39) probably null Het
Slc35a3 A G 3: 116,474,781 (GRCm39) S204P probably damaging Het
Speer4f2 C T 5: 17,581,627 (GRCm39) Q190* probably null Het
Szt2 A G 4: 118,220,529 (GRCm39) probably benign Het
Tacr1 T C 6: 82,380,900 (GRCm39) Y104H probably damaging Het
Trim23 A G 13: 104,324,120 (GRCm39) E173G probably benign Het
Trpm6 T C 19: 18,749,695 (GRCm39) I8T possibly damaging Het
Trpv1 T A 11: 73,136,905 (GRCm39) probably benign Het
Ufsp2 T C 8: 46,448,701 (GRCm39) probably null Het
Wwc2 T C 8: 48,317,570 (GRCm39) D669G unknown Het
Zfp940 T C 7: 29,545,626 (GRCm39) T94A probably benign Het
Zfp947 T G 17: 22,366,477 (GRCm39) D17A probably damaging Het
Other mutations in Exoc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Exoc2 APN 13 31,004,609 (GRCm39) missense probably benign 0.17
IGL01839:Exoc2 APN 13 31,090,782 (GRCm39) missense probably damaging 1.00
IGL02245:Exoc2 APN 13 31,090,842 (GRCm39) missense probably benign 0.10
IGL02267:Exoc2 APN 13 30,999,304 (GRCm39) missense probably benign
IGL02478:Exoc2 APN 13 31,111,403 (GRCm39) missense probably benign
IGL02500:Exoc2 APN 13 31,095,179 (GRCm39) missense probably damaging 1.00
IGL03081:Exoc2 APN 13 31,084,885 (GRCm39) missense probably benign 0.28
IGL03112:Exoc2 APN 13 31,090,570 (GRCm39) splice site probably benign
IGL03409:Exoc2 APN 13 31,124,720 (GRCm39) utr 5 prime probably benign
R0284:Exoc2 UTSW 13 31,061,608 (GRCm39) splice site probably benign
R0452:Exoc2 UTSW 13 31,070,310 (GRCm39) splice site probably benign
R0826:Exoc2 UTSW 13 31,040,780 (GRCm39) critical splice acceptor site probably null
R1251:Exoc2 UTSW 13 31,070,259 (GRCm39) missense probably benign 0.03
R1367:Exoc2 UTSW 13 31,066,256 (GRCm39) nonsense probably null
R1501:Exoc2 UTSW 13 31,119,485 (GRCm39) missense probably benign 0.01
R1593:Exoc2 UTSW 13 31,040,744 (GRCm39) missense possibly damaging 0.64
R1839:Exoc2 UTSW 13 31,090,480 (GRCm39) splice site probably benign
R1872:Exoc2 UTSW 13 31,006,644 (GRCm39) missense probably benign 0.17
R2064:Exoc2 UTSW 13 31,119,544 (GRCm39) missense probably benign 0.00
R2070:Exoc2 UTSW 13 30,999,353 (GRCm39) missense probably benign 0.00
R2227:Exoc2 UTSW 13 31,048,867 (GRCm39) missense probably benign
R2507:Exoc2 UTSW 13 31,066,348 (GRCm39) missense possibly damaging 0.55
R3965:Exoc2 UTSW 13 31,061,565 (GRCm39) missense probably benign 0.00
R4601:Exoc2 UTSW 13 31,066,251 (GRCm39) missense probably benign 0.05
R4914:Exoc2 UTSW 13 31,060,796 (GRCm39) missense probably benign 0.21
R5299:Exoc2 UTSW 13 31,055,901 (GRCm39) splice site probably null
R5410:Exoc2 UTSW 13 31,048,839 (GRCm39) missense probably damaging 0.98
R5461:Exoc2 UTSW 13 31,109,738 (GRCm39) missense possibly damaging 0.66
R5956:Exoc2 UTSW 13 31,004,606 (GRCm39) missense probably benign 0.03
R6056:Exoc2 UTSW 13 31,084,812 (GRCm39) missense probably benign 0.03
R6107:Exoc2 UTSW 13 31,060,780 (GRCm39) missense probably benign
R6548:Exoc2 UTSW 13 31,010,047 (GRCm39) missense possibly damaging 0.86
R6692:Exoc2 UTSW 13 31,119,490 (GRCm39) missense probably benign 0.09
R6969:Exoc2 UTSW 13 31,095,161 (GRCm39) missense probably benign
R7386:Exoc2 UTSW 13 31,090,646 (GRCm39) splice site probably null
R7461:Exoc2 UTSW 13 31,066,255 (GRCm39) missense probably benign 0.32
R7467:Exoc2 UTSW 13 31,109,716 (GRCm39) missense probably damaging 0.98
R7473:Exoc2 UTSW 13 31,006,613 (GRCm39) critical splice donor site probably null
R7613:Exoc2 UTSW 13 31,066,255 (GRCm39) missense probably benign 0.32
R7767:Exoc2 UTSW 13 31,060,752 (GRCm39) missense probably benign 0.01
R7793:Exoc2 UTSW 13 31,095,161 (GRCm39) missense probably benign 0.00
R7795:Exoc2 UTSW 13 31,060,756 (GRCm39) nonsense probably null
R7993:Exoc2 UTSW 13 31,090,713 (GRCm39) critical splice donor site probably null
R8085:Exoc2 UTSW 13 31,124,686 (GRCm39) missense probably damaging 1.00
R8330:Exoc2 UTSW 13 31,061,556 (GRCm39) missense probably benign
R8716:Exoc2 UTSW 13 31,095,227 (GRCm39) missense probably damaging 1.00
R8735:Exoc2 UTSW 13 31,090,822 (GRCm39) missense probably damaging 1.00
R8922:Exoc2 UTSW 13 31,055,838 (GRCm39) missense probably benign 0.05
R9237:Exoc2 UTSW 13 31,048,858 (GRCm39) missense probably benign
R9243:Exoc2 UTSW 13 31,109,778 (GRCm39) missense probably benign 0.03
R9365:Exoc2 UTSW 13 31,040,697 (GRCm39) missense probably benign 0.00
R9731:Exoc2 UTSW 13 31,061,233 (GRCm39) missense probably benign 0.06
Posted On 2015-04-16