Incidental Mutation 'R4852:Exoc3'
ID 373661
Institutional Source Beutler Lab
Gene Symbol Exoc3
Ensembl Gene ENSMUSG00000034152
Gene Name exocyst complex component 3
Synonyms Sec6l1, 2810050O03Rik, E430013E20Rik
MMRRC Submission 042464-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R4852 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 74317607-74356851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 74347764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 69 (R69C)
Ref Sequence ENSEMBL: ENSMUSP00000152217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035934] [ENSMUST00000222213] [ENSMUST00000223045]
AlphaFold Q6KAR6
Predicted Effect probably damaging
Transcript: ENSMUST00000035934
AA Change: R69C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152
AA Change: R69C

DomainStartEndE-ValueType
Pfam:Sec6 187 743 1.7e-162 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000222213
Predicted Effect probably damaging
Transcript: ENSMUST00000223045
AA Change: R69C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.0%
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 multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of 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. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4921524L21Rik C G 18: 6,623,487 (GRCm39) L66V possibly damaging Het
4921524L21Rik T A 18: 6,623,488 (GRCm39) L66Q probably damaging Het
Abca6 A G 11: 110,135,029 (GRCm39) V252A probably benign Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Acap1 C T 11: 69,775,202 (GRCm39) V354M probably benign Het
Accs T C 2: 93,674,605 (GRCm39) D99G probably damaging Het
Adam9 T C 8: 25,493,317 (GRCm39) Y97C probably damaging Het
Akap6 T C 12: 53,151,458 (GRCm39) V1174A probably damaging Het
Aknad1 C A 3: 108,659,056 (GRCm39) D23E probably damaging Het
Ano2 T C 6: 125,959,886 (GRCm39) C666R possibly damaging Het
Atp4a G A 7: 30,423,693 (GRCm39) A933T probably benign Het
Atxn2 T C 5: 121,952,474 (GRCm39) L224P probably damaging Het
Bin2 T C 15: 100,543,169 (GRCm39) E338G probably damaging Het
Bloc1s5 T C 13: 38,818,960 (GRCm39) K20E probably damaging Het
Bst1 A T 5: 43,977,867 (GRCm39) D72V probably benign Het
Cacna1i T C 15: 80,272,680 (GRCm39) F1631L probably damaging Het
Capn13 GCA G 17: 73,658,501 (GRCm39) probably null Het
Cfap43 A G 19: 47,885,550 (GRCm39) I355T possibly damaging Het
Chuk A T 19: 44,077,197 (GRCm39) M383K possibly damaging Het
Cnga4 A G 7: 105,054,937 (GRCm39) I174V probably benign Het
Cpd T C 11: 76,675,976 (GRCm39) K1226E probably benign Het
Crip2 T C 12: 113,104,204 (GRCm39) C5R probably damaging Het
Cyp3a11 T A 5: 145,797,305 (GRCm39) D358V probably damaging Het
Ebag9 T C 15: 44,487,915 (GRCm39) F21S probably damaging Het
Ercc1 A T 7: 19,084,629 (GRCm39) H70L probably damaging Het
Fgfr4 A T 13: 55,308,969 (GRCm39) R363S possibly damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm7489 T A 15: 53,749,434 (GRCm39) probably benign Het
Gphn G A 12: 78,673,984 (GRCm39) V526M probably damaging Het
Gpr152 G A 19: 4,193,790 (GRCm39) V444I probably benign Het
Gss T C 2: 155,406,785 (GRCm39) E330G probably benign Het
Hbs1l A G 10: 21,234,287 (GRCm39) D556G possibly damaging Het
Helz2 T C 2: 180,871,913 (GRCm39) T2619A probably damaging Het
Hk3 A G 13: 55,160,409 (GRCm39) F304L probably damaging Het
Itgad A T 7: 127,797,702 (GRCm39) N906Y probably damaging Het
Jakmip2 T C 18: 43,710,465 (GRCm39) E246G probably damaging Het
L3mbtl4 A T 17: 68,866,748 (GRCm39) H329L probably damaging Het
Mau2 A G 8: 70,485,827 (GRCm39) probably null Het
Myo16 T C 8: 10,423,474 (GRCm39) L270P probably damaging Het
Naa25 T C 5: 121,568,755 (GRCm39) S606P probably damaging Het
Nags T A 11: 102,037,447 (GRCm39) C179* probably null Het
Naip2 A G 13: 100,298,044 (GRCm39) M664T probably benign Het
Ndufv3 T C 17: 31,747,043 (GRCm39) I311T probably benign Het
Nipsnap1 G T 11: 4,841,468 (GRCm39) E258* probably null Het
Nudc A G 4: 133,261,660 (GRCm39) L208P probably damaging Het
Or1e32 T C 11: 73,705,074 (GRCm39) Y278C probably benign Het
Or51a39 A T 7: 102,362,750 (GRCm39) V290E probably damaging Het
Oscp1 A G 4: 125,970,652 (GRCm39) D137G possibly damaging Het
Pcdhb5 C T 18: 37,455,524 (GRCm39) P635S probably benign Het
Pcdhgb2 T A 18: 37,825,103 (GRCm39) I698N probably damaging Het
Pde4b A G 4: 102,454,967 (GRCm39) Y399C probably damaging Het
Pdf A T 8: 107,774,812 (GRCm39) V140E probably damaging Het
Pglyrp2 T C 17: 32,634,823 (GRCm39) N513S probably benign Het
Ranbp2 T A 10: 58,312,878 (GRCm39) D1199E possibly damaging Het
Rell2 G T 18: 38,089,621 (GRCm39) probably null Het
Rgl2 A G 17: 34,156,147 (GRCm39) H745R probably benign Het
Rnf121 A G 7: 101,672,592 (GRCm39) C264R probably damaging Het
Rnf181 A G 6: 72,338,499 (GRCm39) F3S probably damaging Het
Rsrc1 T A 3: 67,262,935 (GRCm39) D296E probably damaging Het
Rubcn A T 16: 32,663,678 (GRCm39) D319E probably damaging Het
Scaf8 T C 17: 3,228,494 (GRCm39) S431P unknown Het
Septin11 T A 5: 93,310,112 (GRCm39) M305K possibly damaging Het
Serpinb12 A G 1: 106,884,132 (GRCm39) K293E probably benign Het
Sh3bp1 T A 15: 78,788,538 (GRCm39) H229Q probably benign Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Specc1 T A 11: 62,102,510 (GRCm39) V952E probably damaging Het
Spint2 G A 7: 28,956,211 (GRCm39) T158I probably benign Het
St8sia4 A T 1: 95,588,623 (GRCm39) W71R probably damaging Het
Tex48 C T 4: 63,530,151 (GRCm39) V23I possibly damaging Het
Tmc5 G A 7: 118,244,562 (GRCm39) G480D probably benign Het
Tmem8b T A 4: 43,689,713 (GRCm39) M330K probably damaging Het
Tnrc18 C T 5: 142,717,095 (GRCm39) R2453Q probably damaging Het
Trank1 A T 9: 111,220,963 (GRCm39) N2567Y possibly damaging Het
Trps1 T C 15: 50,709,705 (GRCm39) D211G probably damaging Het
Ttn T C 2: 76,555,503 (GRCm39) R30501G probably damaging Het
Ttn T A 2: 76,573,247 (GRCm39) Y25882F probably damaging Het
Unc79 T A 12: 103,139,725 (GRCm39) V2495E probably damaging Het
Uqcr10 T A 11: 4,652,198 (GRCm39) H58L possibly damaging Het
Usp7 A T 16: 8,574,708 (GRCm39) C58* probably null Het
Vmn1r36 A T 6: 66,693,872 (GRCm39) M1K probably null Het
Wdr7 T A 18: 63,911,020 (GRCm39) M804K probably damaging Het
Zfp131 A C 13: 120,250,394 (GRCm39) probably null Het
Zfp507 A G 7: 35,493,480 (GRCm39) V521A probably benign Het
Other mutations in Exoc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00695:Exoc3 APN 13 74,355,025 (GRCm39) critical splice donor site probably null
IGL01444:Exoc3 APN 13 74,355,054 (GRCm39) missense probably damaging 1.00
IGL02095:Exoc3 APN 13 74,328,655 (GRCm39) missense probably damaging 1.00
IGL02370:Exoc3 APN 13 74,340,880 (GRCm39) missense probably benign 0.02
IGL02704:Exoc3 APN 13 74,322,263 (GRCm39) missense probably benign 0.00
IGL03113:Exoc3 APN 13 74,341,232 (GRCm39) nonsense probably null
R0037:Exoc3 UTSW 13 74,347,658 (GRCm39) missense probably damaging 0.99
R0565:Exoc3 UTSW 13 74,330,394 (GRCm39) critical splice donor site probably null
R1282:Exoc3 UTSW 13 74,330,411 (GRCm39) missense probably benign 0.30
R1438:Exoc3 UTSW 13 74,338,298 (GRCm39) missense probably damaging 1.00
R1694:Exoc3 UTSW 13 74,338,184 (GRCm39) splice site probably null
R1913:Exoc3 UTSW 13 74,330,435 (GRCm39) missense probably damaging 1.00
R1915:Exoc3 UTSW 13 74,321,413 (GRCm39) critical splice donor site probably null
R2039:Exoc3 UTSW 13 74,341,096 (GRCm39) missense probably benign
R4272:Exoc3 UTSW 13 74,340,763 (GRCm39) missense probably damaging 1.00
R5698:Exoc3 UTSW 13 74,322,134 (GRCm39) missense probably benign 0.13
R5909:Exoc3 UTSW 13 74,347,643 (GRCm39) missense probably damaging 0.98
R5969:Exoc3 UTSW 13 74,320,305 (GRCm39) nonsense probably null
R6248:Exoc3 UTSW 13 74,330,400 (GRCm39) missense probably benign 0.40
R6433:Exoc3 UTSW 13 74,337,306 (GRCm39) missense possibly damaging 0.93
R6599:Exoc3 UTSW 13 74,337,277 (GRCm39) splice site probably null
R6861:Exoc3 UTSW 13 74,337,319 (GRCm39) missense probably benign
R7000:Exoc3 UTSW 13 74,330,285 (GRCm39) missense probably benign 0.41
R7384:Exoc3 UTSW 13 74,320,275 (GRCm39) missense probably benign 0.00
R8098:Exoc3 UTSW 13 74,320,271 (GRCm39) missense probably benign
R8146:Exoc3 UTSW 13 74,340,784 (GRCm39) missense probably benign 0.00
R9548:Exoc3 UTSW 13 74,330,285 (GRCm39) missense possibly damaging 0.66
R9712:Exoc3 UTSW 13 74,341,027 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGAGGTTCTCCACAGCTGC -3'
(R):5'- GAATGAAACTGCCCTTTTCTCTGC -3'

Sequencing Primer
(F):5'- TTCTCCACAGCTGCAGCCAG -3'
(R):5'- AAACTGCCCTTTTCTCTGCTTTCTG -3'
Posted On 2016-03-01