Incidental Mutation 'R1593:Exoc2'
| ID |
175632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exoc2
|
| Ensembl Gene |
ENSMUSG00000021357 |
| Gene Name |
exocyst complex component 2 |
| Synonyms |
2410030I24Rik, Sec5l1, Sec5, Gm29675 |
| MMRRC Submission |
039630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R1593 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
30972939-31162082 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 31040744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 758
(R758L)
|
| 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: R758L
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000021785
Gene: ENSMUSG00000021357
AA Change: R758L
| Domain | Start | End | E-Value | Type |
|---|
|
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: R758L
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000100010
Gene: ENSMUSG00000021357
AA Change: R758L
| Domain | Start | End | E-Value | Type |
|---|
|
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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
A |
T |
11: 100,372,581 (GRCm39) |
I902N |
possibly damaging |
Het |
| Acsl6 |
A |
G |
11: 54,214,134 (GRCm39) |
D88G |
probably damaging |
Het |
| Adam1a |
A |
C |
5: 121,657,706 (GRCm39) |
I529S |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,638,435 (GRCm39) |
V838A |
unknown |
Het |
| Arrdc2 |
T |
C |
8: 71,289,764 (GRCm39) |
Y280C |
probably damaging |
Het |
| Atg10 |
T |
C |
13: 91,302,380 (GRCm39) |
T53A |
probably benign |
Het |
| Ccdc136 |
T |
C |
6: 29,415,583 (GRCm39) |
S699P |
probably damaging |
Het |
| Cdc23 |
C |
A |
18: 34,769,379 (GRCm39) |
V462L |
possibly damaging |
Het |
| Clcn6 |
C |
T |
4: 148,099,051 (GRCm39) |
A431T |
probably benign |
Het |
| Cntn6 |
T |
G |
6: 104,809,541 (GRCm39) |
H525Q |
possibly damaging |
Het |
| Ctr9 |
T |
C |
7: 110,642,060 (GRCm39) |
F296S |
possibly damaging |
Het |
| Ctsq |
T |
A |
13: 61,183,986 (GRCm39) |
|
probably null |
Het |
| Ehd1 |
A |
G |
19: 6,348,330 (GRCm39) |
D436G |
|
Het |
| Epha6 |
A |
T |
16: 60,245,267 (GRCm39) |
F311I |
probably damaging |
Het |
| Esrrg |
A |
T |
1: 187,798,582 (GRCm39) |
T150S |
possibly damaging |
Het |
| Exosc7 |
G |
C |
9: 122,961,058 (GRCm39) |
V242L |
probably benign |
Het |
| Fcho2 |
T |
C |
13: 98,921,315 (GRCm39) |
D190G |
possibly damaging |
Het |
| Fgd6 |
T |
C |
10: 93,880,894 (GRCm39) |
S583P |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,477,999 (GRCm39) |
Y60C |
probably damaging |
Het |
| Gldc |
A |
T |
19: 30,091,150 (GRCm39) |
I815N |
probably damaging |
Het |
| Grm2 |
A |
T |
9: 106,528,113 (GRCm39) |
L257Q |
probably damaging |
Het |
| Hectd3 |
C |
A |
4: 116,854,217 (GRCm39) |
T289K |
possibly damaging |
Het |
| Itgb4 |
T |
C |
11: 115,871,817 (GRCm39) |
V207A |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,013,104 (GRCm39) |
E443G |
probably damaging |
Het |
| Meis2 |
T |
A |
2: 115,830,745 (GRCm39) |
D256V |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,754,686 (GRCm38) |
N1520S |
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,387,281 (GRCm39) |
R719G |
probably null |
Het |
| Or6c210 |
A |
T |
10: 129,496,094 (GRCm39) |
R140* |
probably null |
Het |
| Pabpc6 |
A |
T |
17: 9,886,742 (GRCm39) |
M603K |
probably damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,486,012 (GRCm39) |
R1862L |
probably benign |
Het |
| Pgap6 |
T |
A |
17: 26,337,381 (GRCm39) |
I399N |
possibly damaging |
Het |
| Pon2 |
T |
C |
6: 5,273,003 (GRCm39) |
D122G |
probably benign |
Het |
| Ppig |
T |
A |
2: 69,579,425 (GRCm39) |
W378R |
unknown |
Het |
| Ralgapa1 |
T |
A |
12: 55,817,488 (GRCm39) |
E389D |
probably damaging |
Het |
| Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
| Rarg |
A |
G |
15: 102,148,376 (GRCm39) |
F233L |
probably damaging |
Het |
| Rasgrp2 |
T |
C |
19: 6,453,490 (GRCm39) |
F90L |
possibly damaging |
Het |
| Rrp12 |
T |
A |
19: 41,851,680 (GRCm39) |
H1285L |
probably benign |
Het |
| Slc16a13 |
C |
A |
11: 70,109,908 (GRCm39) |
A198S |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,988,059 (GRCm39) |
D441G |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 36,936,414 (GRCm39) |
F1099S |
probably damaging |
Het |
| Tex19.1 |
T |
A |
11: 121,038,079 (GRCm39) |
W146R |
probably damaging |
Het |
| Tmod3 |
T |
C |
9: 75,418,445 (GRCm39) |
D197G |
probably benign |
Het |
| Tpp2 |
A |
G |
1: 44,014,593 (GRCm39) |
H644R |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,778,910 (GRCm39) |
V352A |
possibly damaging |
Het |
| Tulp1 |
T |
C |
17: 28,581,675 (GRCm39) |
K233E |
probably damaging |
Het |
| Vsir |
A |
G |
10: 60,193,737 (GRCm39) |
T67A |
possibly damaging |
Het |
| Wdr49 |
T |
C |
3: 75,304,248 (GRCm39) |
N487S |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,429,786 (GRCm39) |
N99S |
probably damaging |
Het |
| Zfp583 |
C |
T |
7: 6,320,008 (GRCm39) |
G335S |
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,354,675 (GRCm39) |
V98E |
possibly damaging |
Het |
|
| Other mutations in Exoc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATACCCGTCACCATTTGCAGCAGC -3'
(R):5'- TCGGACTACTCAGCACTGAGACAC -3'
Sequencing Primer
(F):5'- TTGCAGCAGCAGAAAATGTTCC -3'
(R):5'- GGAACACTACAGTTGGTGTCC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation