Incidental Mutation 'R4273:Exoc5'
ID 322291
Institutional Source Beutler Lab
Gene Symbol Exoc5
Ensembl Gene ENSMUSG00000061244
Gene Name exocyst complex component 5
Synonyms PRO1912, Sec10l1, SEC10
MMRRC Submission 041645-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R4273 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 49249379-49304124 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 49252937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 625 (C625*)
Ref Sequence ENSEMBL: ENSMUSP00000125434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161504] [ENSMUST00000162175]
AlphaFold Q3TPX4
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160833
Predicted Effect probably null
Transcript: ENSMUST00000161504
AA Change: C560*
SMART Domains Protein: ENSMUSP00000124012
Gene: ENSMUSG00000061244
AA Change: C560*

Pfam:Sec10 43 175 9.5e-24 PFAM
Pfam:Sec10 175 642 1.1e-119 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000162175
AA Change: C625*
SMART Domains Protein: ENSMUSP00000125434
Gene: ENSMUSG00000061244
AA Change: C625*

Pfam:Sec10 89 707 6.6e-154 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.1%
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]
PHENOTYPE: Mice homozygous for a conditional allele activated in all cells die prior to E8.5. Mice homozygous for a conditional allele activated in kidney cells exhibit ureteropelvic junction obstructions leading to neontal death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer2 T A 4: 86,792,835 (GRCm39) probably null Het
Adgrf2 T A 17: 43,021,013 (GRCm39) T604S probably damaging Het
Akap8l T A 17: 32,540,905 (GRCm39) K533* probably null Het
Appbp2 T C 11: 85,125,502 (GRCm39) Y45C probably damaging Het
Arap2 T C 5: 62,828,322 (GRCm39) I950V possibly damaging Het
Arhgap31 T C 16: 38,422,697 (GRCm39) E1123G possibly damaging Het
Atp2c1 G T 9: 105,312,339 (GRCm39) N493K probably benign Het
Bcr T C 10: 74,960,943 (GRCm39) I458T probably damaging Het
Brd4 G A 17: 32,433,756 (GRCm39) T468I probably benign Het
Cdh23 T A 10: 60,146,940 (GRCm39) D2774V possibly damaging Het
Cfdp1 T C 8: 112,495,417 (GRCm39) Y267C probably damaging Het
Chd6 C A 2: 160,803,211 (GRCm39) A2156S probably benign Het
Dazap2 C A 15: 100,515,971 (GRCm39) P100T probably damaging Het
Disp1 T A 1: 182,869,208 (GRCm39) I1071F possibly damaging Het
Dlgap1 T A 17: 71,073,038 (GRCm39) S686T probably benign Het
Dst C T 1: 34,231,421 (GRCm39) R3183C possibly damaging Het
Enpp4 T C 17: 44,412,698 (GRCm39) N279D probably benign Het
Exoc3l T C 8: 106,016,593 (GRCm39) *740W probably null Het
Fam98b A T 2: 117,090,712 (GRCm39) N137Y possibly damaging Het
Fat4 T A 3: 38,945,776 (GRCm39) D1556E probably damaging Het
Fcer2a C A 8: 3,732,848 (GRCm39) V319L possibly damaging Het
Fer1l6 T C 15: 58,499,371 (GRCm39) V1247A probably benign Het
Fmo4 A G 1: 162,632,748 (GRCm39) V201A probably damaging Het
Fras1 G A 5: 96,762,763 (GRCm39) G755D probably benign Het
Grid2 T C 6: 63,886,029 (GRCm39) Y142H probably damaging Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Ibtk T C 9: 85,608,784 (GRCm39) Q376R probably damaging Het
Impdh2 T C 9: 108,442,155 (GRCm39) M414T probably damaging Het
Itm2c A G 1: 85,834,750 (GRCm39) T160A probably damaging Het
Kcna2 T A 3: 107,012,509 (GRCm39) D363E probably benign Het
Lama2 C T 10: 27,223,050 (GRCm39) C412Y probably damaging Het
Lims2 C G 18: 32,089,390 (GRCm39) T151S probably benign Het
Mier1 T C 4: 103,019,628 (GRCm39) S423P possibly damaging Het
Mrgpra3 A T 7: 47,239,180 (GRCm39) W249R probably benign Het
Mtor A G 4: 148,634,609 (GRCm39) H2410R probably benign Het
Mvp C T 7: 126,588,875 (GRCm39) A631T probably benign Het
Nepro T C 16: 44,556,192 (GRCm39) V450A possibly damaging Het
Ngrn T C 7: 79,914,269 (GRCm39) V140A probably damaging Het
Nobox T C 6: 43,282,942 (GRCm39) E231G probably benign Het
Or10al7 A T 17: 38,366,163 (GRCm39) I98N probably damaging Het
P3h2 T A 16: 25,923,971 (GRCm39) I155F probably benign Het
Pcdha3 C T 18: 37,081,144 (GRCm39) R629C probably damaging Het
Pramel24 A T 4: 143,453,416 (GRCm39) K175* probably null Het
Riok3 AGAAGCGG AG 18: 12,268,998 (GRCm39) probably benign Het
Rttn T C 18: 89,110,020 (GRCm39) I1675T probably benign Het
Sall2 C A 14: 52,551,260 (GRCm39) R643L probably damaging Het
Slc35f4 G T 14: 49,541,758 (GRCm39) T182N possibly damaging Het
Slc52a3 T A 2: 151,847,660 (GRCm39) I256N possibly damaging Het
Sox9 T C 11: 112,675,980 (GRCm39) S390P possibly damaging Het
Tango2 T C 16: 18,120,654 (GRCm39) probably benign Het
Tas1r1 T C 4: 152,116,614 (GRCm39) E340G possibly damaging Het
Tek G A 4: 94,718,207 (GRCm39) G524R probably damaging Het
Tmem260 A T 14: 48,742,761 (GRCm39) Y532F probably benign Het
Tsks C A 7: 44,607,353 (GRCm39) L559I probably damaging Het
Unc79 C A 12: 103,088,612 (GRCm39) L1702I probably damaging Het
Vmn1r14 T A 6: 57,211,133 (GRCm39) I237N probably damaging Het
Vmn2r17 G A 5: 109,600,832 (GRCm39) C710Y probably benign Het
Zfp119b G T 17: 56,245,926 (GRCm39) T420K possibly damaging Het
Zfp202 C T 9: 40,118,790 (GRCm39) R68* probably null Het
Zfp229 T A 17: 21,965,802 (GRCm39) S677R probably benign Het
Zfp462 C T 4: 55,008,411 (GRCm39) H126Y probably benign Het
Zfp52 C A 17: 21,780,459 (GRCm39) Y102* probably null Het
Zfp616 T A 11: 73,974,526 (GRCm39) M265K probably benign Het
Zfyve9 A T 4: 108,538,173 (GRCm39) I1031N probably damaging Het
Zmynd11 T C 13: 9,747,726 (GRCm39) Y203C probably damaging Het
Other mutations in Exoc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01010:Exoc5 APN 14 49,275,212 (GRCm39) missense probably damaging 1.00
IGL01473:Exoc5 APN 14 49,251,751 (GRCm39) missense possibly damaging 0.83
IGL01599:Exoc5 APN 14 49,272,421 (GRCm39) missense probably benign 0.00
IGL01702:Exoc5 APN 14 49,253,072 (GRCm39) nonsense probably null
IGL02173:Exoc5 APN 14 49,272,258 (GRCm39) splice site probably benign
IGL02211:Exoc5 APN 14 49,251,667 (GRCm39) missense probably damaging 1.00
IGL02874:Exoc5 APN 14 49,288,903 (GRCm39) missense probably benign 0.02
IGL02968:Exoc5 APN 14 49,270,726 (GRCm39) critical splice donor site probably null
IGL03167:Exoc5 APN 14 49,288,802 (GRCm39) missense probably damaging 1.00
IGL03207:Exoc5 APN 14 49,270,832 (GRCm39) missense probably benign
PIT4260001:Exoc5 UTSW 14 49,286,222 (GRCm39) missense probably benign 0.01
R0139:Exoc5 UTSW 14 49,273,493 (GRCm39) missense probably damaging 1.00
R0594:Exoc5 UTSW 14 49,273,544 (GRCm39) splice site probably benign
R0945:Exoc5 UTSW 14 49,276,799 (GRCm39) splice site probably benign
R1968:Exoc5 UTSW 14 49,272,347 (GRCm39) missense probably benign 0.27
R2082:Exoc5 UTSW 14 49,253,044 (GRCm39) missense probably benign 0.07
R2186:Exoc5 UTSW 14 49,252,936 (GRCm39) missense probably benign 0.08
R2356:Exoc5 UTSW 14 49,253,738 (GRCm39) missense probably benign 0.00
R3419:Exoc5 UTSW 14 49,260,735 (GRCm39) missense probably damaging 1.00
R3743:Exoc5 UTSW 14 49,270,864 (GRCm39) nonsense probably null
R3743:Exoc5 UTSW 14 49,251,806 (GRCm39) missense probably benign 0.00
R3870:Exoc5 UTSW 14 49,256,853 (GRCm39) splice site probably benign
R4794:Exoc5 UTSW 14 49,286,357 (GRCm39) critical splice acceptor site probably null
R4853:Exoc5 UTSW 14 49,289,826 (GRCm39) small deletion probably benign
R4864:Exoc5 UTSW 14 49,289,839 (GRCm39) missense probably benign 0.00
R4883:Exoc5 UTSW 14 49,289,821 (GRCm39) missense probably damaging 1.00
R5098:Exoc5 UTSW 14 49,286,304 (GRCm39) missense possibly damaging 0.90
R5965:Exoc5 UTSW 14 49,272,388 (GRCm39) missense probably damaging 1.00
R6036:Exoc5 UTSW 14 49,251,779 (GRCm39) missense possibly damaging 0.82
R6036:Exoc5 UTSW 14 49,251,779 (GRCm39) missense possibly damaging 0.82
R6820:Exoc5 UTSW 14 49,286,387 (GRCm39) splice site probably null
R8473:Exoc5 UTSW 14 49,256,860 (GRCm39) missense probably null 0.98
R8987:Exoc5 UTSW 14 49,252,986 (GRCm39) missense probably damaging 1.00
R9229:Exoc5 UTSW 14 49,251,710 (GRCm39) nonsense probably null
R9250:Exoc5 UTSW 14 49,256,915 (GRCm39) missense probably damaging 1.00
R9340:Exoc5 UTSW 14 49,286,297 (GRCm39) missense probably damaging 0.98
R9381:Exoc5 UTSW 14 49,275,194 (GRCm39) missense probably benign
R9729:Exoc5 UTSW 14 49,253,086 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-06-20