Incidental Mutation 'R2507:Exoc2'
ID 251396
Institutional Source Beutler Lab
Gene Symbol Exoc2
Ensembl Gene ENSMUSG00000021357
Gene Name exocyst complex component 2
Synonyms 2410030I24Rik, Sec5l1, Sec5, Gm29675
MMRRC Submission 040413-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R2507 (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 G at 31066348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 443 (Y443H)
Ref Sequence ENSEMBL: ENSMUSP00000100010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021785] [ENSMUST00000102946]
AlphaFold Q9D4H1
Predicted Effect possibly damaging
Transcript: ENSMUST00000021785
AA Change: Y443H

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000021785
Gene: ENSMUSG00000021357
AA Change: Y443H

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 possibly damaging
Transcript: ENSMUST00000102946
AA Change: Y443H

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100010
Gene: ENSMUSG00000021357
AA Change: Y443H

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,497,681 (GRCm39) probably benign Het
4930535I16Rik G A 4: 123,811,740 (GRCm39) probably benign Het
Akr1b1 C T 6: 34,286,999 (GRCm39) E186K probably damaging Het
Apc A T 18: 34,449,590 (GRCm39) N2128I possibly damaging Het
Api5 T C 2: 94,260,162 (GRCm39) I31M probably damaging Het
Armcx4 T G X: 133,596,128 (GRCm39) V2012G possibly damaging Het
Aurka T C 2: 172,212,365 (GRCm39) E4G probably benign Het
B4galt5 T A 2: 167,148,558 (GRCm39) M187L probably benign Het
Bsn T C 9: 107,993,313 (GRCm39) D813G probably damaging Het
Bub1 A T 2: 127,643,343 (GRCm39) D1000E probably benign Het
Cacna1f T G X: 7,492,687 (GRCm39) probably null Het
Cdh6 A G 15: 13,041,447 (GRCm39) I539T probably benign Het
Cdhr3 T C 12: 33,088,914 (GRCm39) D756G probably benign Het
Cenph A T 13: 100,907,744 (GRCm39) D85E probably benign Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clec2h A G 6: 128,650,945 (GRCm39) N75S probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cox4i1 T A 8: 121,400,029 (GRCm39) V51E possibly damaging Het
Cpne3 A T 4: 19,553,871 (GRCm39) N53K probably damaging Het
Cpt1b A G 15: 89,303,301 (GRCm39) F585L probably benign Het
Daam1 G A 12: 72,021,997 (GRCm39) D732N probably damaging Het
Dner A T 1: 84,560,801 (GRCm39) C115S probably damaging Het
Dop1a T A 9: 86,395,170 (GRCm39) F759Y probably damaging Het
Dst T C 1: 34,050,990 (GRCm39) Y29H probably damaging Het
Dst T C 1: 34,227,498 (GRCm39) V1875A possibly damaging Het
Duox1 A G 2: 122,163,619 (GRCm39) D817G probably benign Het
Emc2 A T 15: 43,375,094 (GRCm39) probably null Het
Erich3 A T 3: 154,404,296 (GRCm39) E51V probably null Het
Fbf1 T C 11: 116,046,252 (GRCm39) R200G probably benign Het
Fdxr G A 11: 115,162,806 (GRCm39) T100I probably damaging Het
Galnt11 C G 5: 25,452,610 (GRCm39) P41A probably damaging Het
Galnt4 A G 10: 98,945,148 (GRCm39) K291R possibly damaging Het
Gm12695 T A 4: 96,642,426 (GRCm39) E301V probably damaging Het
Gopc C T 10: 52,229,422 (GRCm39) probably null Het
Gria1 A T 11: 57,180,146 (GRCm39) T699S probably null Het
Gsr T G 8: 34,170,316 (GRCm39) D200E probably benign Het
Ikzf2 G A 1: 69,578,447 (GRCm39) A282V probably benign Het
Irak2 T C 6: 113,624,639 (GRCm39) I45T probably damaging Het
Irx1 T C 13: 72,107,939 (GRCm39) K248E probably damaging Het
Kcns3 A C 12: 11,142,087 (GRCm39) V204G possibly damaging Het
Lmo1 C A 7: 108,739,848 (GRCm39) M91I probably damaging Het
Map3k21 A G 8: 126,666,677 (GRCm39) D623G possibly damaging Het
Map4 A G 9: 109,866,551 (GRCm39) probably benign Het
Mark3 T A 12: 111,593,676 (GRCm39) V236E probably damaging Het
Med23 A G 10: 24,786,711 (GRCm39) D939G probably damaging Het
Mrgpra9 A G 7: 46,885,242 (GRCm39) C142R possibly damaging Het
N4bp2 T A 5: 65,947,404 (GRCm39) D11E probably benign Het
Ntng2 T C 2: 29,097,531 (GRCm39) N310S probably damaging Het
Or10ak7 T C 4: 118,791,122 (GRCm39) M308V probably benign Het
Or6b3 A G 1: 92,439,100 (GRCm39) S217P probably damaging Het
Pcolce A G 5: 137,605,313 (GRCm39) V260A possibly damaging Het
Pds5b C A 5: 150,679,893 (GRCm39) T533K possibly damaging Het
Pecr A G 1: 72,301,135 (GRCm39) Y268H probably benign Het
Phax T A 18: 56,719,956 (GRCm39) F299Y probably damaging Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Pramel32 T A 4: 88,547,448 (GRCm39) K161N possibly damaging Het
Prpf39 T A 12: 65,104,589 (GRCm39) F551L probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ralgapa1 G A 12: 55,764,986 (GRCm39) P889S probably damaging Het
Rpap1 A G 2: 119,610,535 (GRCm39) probably null Het
Rufy3 T C 5: 88,797,757 (GRCm39) S645P probably damaging Het
Samd1 CGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 8: 84,725,625 (GRCm39) probably benign Het
Spata7 G T 12: 98,624,709 (GRCm39) A172S probably benign Het
Stk35 A G 2: 129,643,435 (GRCm39) T140A probably damaging Het
Thop1 T G 10: 80,906,098 (GRCm39) M1R probably null Het
Tlr1 T C 5: 65,082,639 (GRCm39) Y646C probably damaging Het
Tpp2 A G 1: 44,040,609 (GRCm39) Y290C probably benign Het
Tpr A G 1: 150,268,695 (GRCm39) M1V probably null Het
Trim6 T C 7: 103,877,392 (GRCm39) F161L probably damaging Het
Ubash3b T C 9: 41,068,650 (GRCm39) K25E possibly damaging Het
Unc45b G A 11: 82,830,963 (GRCm39) probably null Het
Unc80 A G 1: 66,651,266 (GRCm39) N1537S possibly damaging Het
Usb1 T C 8: 96,069,752 (GRCm39) F100S probably damaging Het
Vmn1r17 C A 6: 57,338,244 (GRCm39) L40F probably damaging Het
Vmn1r233 A T 17: 21,214,110 (GRCm39) M280K probably benign Het
Zfp37 A T 4: 62,109,493 (GRCm39) C524S probably damaging Het
Zfp426 T C 9: 20,381,727 (GRCm39) K420R 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
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
Predicted Primers PCR Primer
(F):5'- TTGGTAAAGGTACTAGACACCTAAG -3'
(R):5'- ATAAGGGTGAAGCACTGTCCTC -3'

Sequencing Primer
(F):5'- ACCTAAGACTTTTTAAAAGAACCCC -3'
(R):5'- TGAAGCACTGTCCTCTGAGG -3'
Posted On 2014-12-04