Incidental Mutation 'R4914:Exoc2'
ID 379856
Institutional Source Beutler Lab
Gene Symbol Exoc2
Ensembl Gene ENSMUSG00000021357
Gene Name exocyst complex component 2
Synonyms 2410030I24Rik, Sec5l1, Sec5, Gm29675
MMRRC Submission 042516-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R4914 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 30972939-31162082 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31060796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 569 (N569K)
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: N569K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000021785
Gene: ENSMUSG00000021357
AA Change: N569K

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: N569K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000100010
Gene: ENSMUSG00000021357
AA Change: N569K

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,870,423 (GRCm39) V281M probably damaging Het
Ap1b1 C T 11: 4,974,400 (GRCm39) T363I possibly damaging Het
Apobec2 T C 17: 48,730,153 (GRCm39) E171G probably benign Het
Arhgef1 T A 7: 24,623,264 (GRCm39) L436Q probably damaging Het
Atxn2 T A 5: 121,887,159 (GRCm39) D276E probably damaging Het
AU040320 A T 4: 126,729,469 (GRCm39) K544* probably null Het
Baz2b T A 2: 59,744,387 (GRCm39) T1373S possibly damaging Het
Bcas1 T C 2: 170,220,806 (GRCm39) D324G probably damaging Het
Bdp1 A G 13: 100,192,844 (GRCm39) V1330A probably benign Het
Bfsp1 C T 2: 143,669,391 (GRCm39) R396Q probably benign Het
Bpifb9b T A 2: 154,156,026 (GRCm39) probably null Het
Cabs1 T C 5: 88,128,296 (GRCm39) Y316H probably damaging Het
Carmil2 A G 8: 106,420,175 (GRCm39) K908E possibly damaging Het
Ccdc188 C A 16: 18,036,083 (GRCm39) P86Q probably benign Het
Cdh26 T C 2: 178,091,614 (GRCm39) S58P probably benign Het
Cemip2 G A 19: 21,786,653 (GRCm39) V472I probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dclk2 A T 3: 86,732,049 (GRCm39) probably null Het
Dennd5a A G 7: 109,500,296 (GRCm39) F943S probably damaging Het
Disp2 A T 2: 118,620,935 (GRCm39) S556C probably damaging Het
Dnai3 A G 3: 145,772,582 (GRCm39) I488T probably damaging Het
Dpp4 A T 2: 62,178,236 (GRCm39) M632K probably benign Het
E030030I06Rik G A 10: 21,990,197 (GRCm39) T192M possibly damaging Het
Ece2 C T 16: 20,462,820 (GRCm39) R582C probably damaging Het
Ehbp1 T C 11: 22,096,592 (GRCm39) D299G probably benign Het
Emc1 C T 4: 139,102,476 (GRCm39) R924* probably null Het
Etaa1 A T 11: 17,896,532 (GRCm39) S528R probably benign Het
Fasn T G 11: 120,707,472 (GRCm39) N799T probably benign Het
Fbxo3 T G 2: 103,885,311 (GRCm39) N388K probably damaging Het
Fbxw16 C T 9: 109,267,245 (GRCm39) V329I probably benign Het
Fer1l4 T C 2: 155,873,220 (GRCm39) K1287E probably benign Het
Fermt1 A G 2: 132,748,760 (GRCm39) V621A probably damaging Het
Fnbp4 A G 2: 90,581,513 (GRCm39) T189A probably benign Het
Fut8 G T 12: 77,521,818 (GRCm39) A486S probably damaging Het
G6pd2 T A 5: 61,967,672 (GRCm39) Y482* probably null Het
Gfra1 A T 19: 58,255,522 (GRCm39) S308R probably damaging Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gper1 A G 5: 139,412,623 (GRCm39) I323V probably benign Het
Grm5 C A 7: 87,779,337 (GRCm39) R958S probably benign Het
H2-DMb2 A G 17: 34,369,503 (GRCm39) T85A probably benign Het
Hgsnat A G 8: 26,454,866 (GRCm39) S220P probably damaging Het
Hspa12a A T 19: 58,787,884 (GRCm39) M646K probably damaging Het
Inpp5f A T 7: 128,286,840 (GRCm39) D573V probably damaging Het
Jmjd1c A G 10: 67,054,750 (GRCm39) N344D probably damaging Het
Kif1c A G 11: 70,599,681 (GRCm39) E471G probably damaging Het
Lalba T A 15: 98,380,061 (GRCm39) N63I probably benign Het
Mcoln1 T A 8: 3,557,483 (GRCm39) L163* probably null Het
Mllt1 T C 17: 57,206,813 (GRCm39) T344A probably benign Het
Mpzl2 T A 9: 44,955,146 (GRCm39) D114E probably benign Het
Myef2 T A 2: 124,951,659 (GRCm39) K259* probably null Het
Myh8 C A 11: 67,183,510 (GRCm39) D740E probably damaging Het
Myo1b A T 1: 51,863,367 (GRCm39) probably null Het
Nfix T C 8: 85,498,458 (GRCm39) I172V probably benign Het
Or1b1 A T 2: 36,995,170 (GRCm39) I164N possibly damaging Het
Or2h2 T C 17: 37,396,883 (GRCm39) Y58C probably damaging Het
Or2w1b A T 13: 21,300,567 (GRCm39) Q235L probably benign Het
Or3a1b A T 11: 74,012,705 (GRCm39) I197F probably benign Het
Or5b106 T A 19: 13,123,355 (GRCm39) I223L possibly damaging Het
Orc1 T C 4: 108,461,755 (GRCm39) F584S probably damaging Het
Osgin1 C A 8: 120,169,283 (GRCm39) A60D possibly damaging Het
Pde4dip C A 3: 97,622,644 (GRCm39) V1522L probably benign Het
Phactr1 A G 13: 43,287,439 (GRCm39) T556A possibly damaging Het
Ppfia2 G C 10: 106,597,978 (GRCm39) L180F probably damaging Het
Ppm1k T A 6: 57,487,762 (GRCm39) N354Y probably damaging Het
Ppp1r1a A G 15: 103,446,265 (GRCm39) V14A probably damaging Het
Prkcd A T 14: 30,327,395 (GRCm39) probably null Het
Ranbp17 T C 11: 33,163,425 (GRCm39) S1082G probably benign Het
Rere T A 4: 150,703,601 (GRCm39) W1528R probably damaging Het
Rnf103 T A 6: 71,487,248 (GRCm39) F626L possibly damaging Het
Rsrc2 A G 5: 123,877,613 (GRCm39) probably benign Het
Scin T A 12: 40,119,373 (GRCm39) I552F possibly damaging Het
Scn3a T C 2: 65,291,799 (GRCm39) N1649S probably damaging Het
Slain2 T A 5: 73,115,609 (GRCm39) M448K probably benign Het
Slc25a54 T C 3: 109,018,395 (GRCm39) F292L probably benign Het
Slc4a1 A G 11: 102,243,279 (GRCm39) V784A probably damaging Het
Slco1b2 G A 6: 141,615,096 (GRCm39) V334I probably benign Het
Slf2 T G 19: 44,960,100 (GRCm39) D1022E probably damaging Het
Smg8 T C 11: 86,971,536 (GRCm39) E745G probably damaging Het
Smyd1 T G 6: 71,196,321 (GRCm39) I322L probably benign Het
Snx13 G A 12: 35,182,032 (GRCm39) V694I possibly damaging Het
Sox6 T C 7: 115,076,199 (GRCm39) D814G probably damaging Het
Spag6 A T 2: 18,750,360 (GRCm39) I469F probably benign Het
Spsb2 A C 6: 124,786,711 (GRCm39) E148A probably benign Het
Srprb C A 9: 103,079,147 (GRCm39) V747L possibly damaging Het
Stam A G 2: 14,107,227 (GRCm39) E16G probably damaging Het
Taar5 A T 10: 23,847,468 (GRCm39) I289F possibly damaging Het
Tgif1 C T 17: 71,152,242 (GRCm39) R70H probably damaging Het
Top2a A T 11: 98,893,786 (GRCm39) L1036H probably damaging Het
Tph1 T A 7: 46,303,283 (GRCm39) I232F probably damaging Het
Ttn T C 2: 76,577,175 (GRCm39) T24573A probably damaging Het
Tub C T 7: 108,620,161 (GRCm39) R102* probably null Het
Ube2n T A 10: 95,377,607 (GRCm39) W129R possibly damaging Het
Usp8 A T 2: 126,562,060 (GRCm39) K85* probably null Het
Vmn2r81 A T 10: 79,106,357 (GRCm39) K445M probably null Het
Vps45 T C 3: 95,926,943 (GRCm39) T535A probably damaging Het
Zfp1007 A G 5: 109,826,396 (GRCm39) S59P probably damaging Het
Zfp157 T C 5: 138,454,557 (GRCm39) S252P possibly damaging Het
Zfp605 T A 5: 110,275,567 (GRCm39) C228* probably null Het
Zfp791 T A 8: 85,837,580 (GRCm39) I95L probably benign 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
IGL02092:Exoc2 APN 13 31,059,260 (GRCm39) missense probably benign 0.09
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
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
Predicted Primers PCR Primer
(F):5'- ACTGCTAACGGTGTTCTGATTTC -3'
(R):5'- AGACCCTGTACTGTTCCTGC -3'

Sequencing Primer
(F):5'- ATCCACATGTTTTTAACCTGGGAC -3'
(R):5'- GCTGCGCTCATGCTGTCAC -3'
Posted On 2016-04-15