Mutagenetix > Incidental Mutation

Incidental Mutation 'R4914:Exoc2'

379856

Institutional Source

Beutler Lab

Gene Symbol

Exoc2

Ensembl Gene

ENSMUSG00000021357

Gene Name

exocyst complex component 2

Synonyms

2410030I24Rik, Sec5l1, Sec5

MMRRC Submission

042516-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R4914 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30813919-30974093 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30876813 bp (GRCm38)

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

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

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

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: 99.1%
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	A	G	5: 109,678,530 (GRCm38)	S59P	probably damaging	Het
Ace	G	A	11: 105,979,597 (GRCm38)	V281M	probably damaging	Het
Ap1b1	C	T	11: 5,024,400 (GRCm38)	T363I	possibly damaging	Het
Apobec2	T	C	17: 48,423,125 (GRCm38)	E171G	probably benign	Het
Arhgef1	T	A	7: 24,923,839 (GRCm38)	L436Q	probably damaging	Het
Atxn2	T	A	5: 121,749,096 (GRCm38)	D276E	probably damaging	Het
AU040320	A	T	4: 126,835,676 (GRCm38)	K544*	probably null	Het
Baz2b	T	A	2: 59,914,043 (GRCm38)	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,378,886 (GRCm38)	D324G	probably damaging	Het
Bdp1	A	G	13: 100,056,336 (GRCm38)	V1330A	probably benign	Het
Bfsp1	C	T	2: 143,827,471 (GRCm38)	R396Q	probably benign	Het
Bpifb9b	T	A	2: 154,314,106 (GRCm38)		probably null	Het
Cabs1	T	C	5: 87,980,437 (GRCm38)	Y316H	probably damaging	Het
Carmil2	A	G	8: 105,693,543 (GRCm38)	K908E	possibly damaging	Het
Ccdc188	C	A	16: 18,218,219 (GRCm38)	P86Q	probably benign	Het
Cdh26	T	C	2: 178,449,821 (GRCm38)	S58P	probably benign	Het
Cybb	C	G	X: 9,450,750 (GRCm38)	D246H	probably benign	Het
Dclk2	A	T	3: 86,824,742 (GRCm38)		probably null	Het
Dennd5a	A	G	7: 109,901,089 (GRCm38)	F943S	probably damaging	Het
Disp2	A	T	2: 118,790,454 (GRCm38)	S556C	probably damaging	Het
Dpp4	A	T	2: 62,347,892 (GRCm38)	M632K	probably benign	Het
E030030I06Rik	G	A	10: 22,114,298 (GRCm38)	T192M	possibly damaging	Het
Ece2	C	T	16: 20,644,070 (GRCm38)	R582C	probably damaging	Het
Ehbp1	T	C	11: 22,146,592 (GRCm38)	D299G	probably benign	Het
Emc1	C	T	4: 139,375,165 (GRCm38)	R924*	probably null	Het
Etaa1	A	T	11: 17,946,532 (GRCm38)	S528R	probably benign	Het
Fasn	T	G	11: 120,816,646 (GRCm38)	N799T	probably benign	Het
Fbxo3	T	G	2: 104,054,966 (GRCm38)	N388K	probably damaging	Het
Fbxw16	C	T	9: 109,438,177 (GRCm38)	V329I	probably benign	Het
Fer1l4	T	C	2: 156,031,300 (GRCm38)	K1287E	probably benign	Het
Fermt1	A	G	2: 132,906,840 (GRCm38)	V621A	probably damaging	Het
Fnbp4	A	G	2: 90,751,169 (GRCm38)	T189A	probably benign	Het
Fut8	G	T	12: 77,475,044 (GRCm38)	A486S	probably damaging	Het
G6pd2	T	A	5: 61,810,329 (GRCm38)	Y482*	probably null	Het
Gfra1	A	T	19: 58,267,090 (GRCm38)	S308R	probably damaging	Het
Glp2r	G	T	11: 67,757,593 (GRCm38)	Y94*	probably null	Het
Gper1	A	G	5: 139,426,868 (GRCm38)	I323V	probably benign	Het
Grm5	C	A	7: 88,130,129 (GRCm38)	R958S	probably benign	Het
H2-DMb2	A	G	17: 34,150,529 (GRCm38)	T85A	probably benign	Het
Hgsnat	A	G	8: 25,964,838 (GRCm38)	S220P	probably damaging	Het
Hspa12a	A	T	19: 58,799,452 (GRCm38)	M646K	probably damaging	Het
Inpp5f	A	T	7: 128,685,116 (GRCm38)	D573V	probably damaging	Het
Jmjd1c	A	G	10: 67,218,971 (GRCm38)	N344D	probably damaging	Het
Kif1c	A	G	11: 70,708,855 (GRCm38)	E471G	probably damaging	Het
Lalba	T	A	15: 98,482,180 (GRCm38)	N63I	probably benign	Het
Mcoln1	T	A	8: 3,507,483 (GRCm38)	L163*	probably null	Het
Mllt1	T	C	17: 56,899,813 (GRCm38)	T344A	probably benign	Het
Mpzl2	T	A	9: 45,043,848 (GRCm38)	D114E	probably benign	Het
Myef2	T	A	2: 125,109,739 (GRCm38)	K259*	probably null	Het
Myh8	C	A	11: 67,292,684 (GRCm38)	D740E	probably damaging	Het
Myo1b	A	T	1: 51,824,208 (GRCm38)		probably null	Het
Nfix	T	C	8: 84,771,829 (GRCm38)	I172V	probably benign	Het
Olfr1369-ps1	A	T	13: 21,116,397 (GRCm38)	Q235L	probably benign	Het
Olfr1459	T	A	19: 13,145,991 (GRCm38)	I223L	possibly damaging	Het
Olfr362	A	T	2: 37,105,158 (GRCm38)	I164N	possibly damaging	Het
Olfr401	A	T	11: 74,121,879 (GRCm38)	I197F	probably benign	Het
Olfr90	T	C	17: 37,085,991 (GRCm38)	Y58C	probably damaging	Het
Orc1	T	C	4: 108,604,558 (GRCm38)	F584S	probably damaging	Het
Osgin1	C	A	8: 119,442,544 (GRCm38)	A60D	possibly damaging	Het
Pde4dip	C	A	3: 97,715,328 (GRCm38)	V1522L	probably benign	Het
Phactr1	A	G	13: 43,133,963 (GRCm38)	T556A	possibly damaging	Het
Ppfia2	G	C	10: 106,762,117 (GRCm38)	L180F	probably damaging	Het
Ppm1k	T	A	6: 57,510,777 (GRCm38)	N354Y	probably damaging	Het
Ppp1r1a	A	G	15: 103,537,838 (GRCm38)	V14A	probably damaging	Het
Prkcd	A	T	14: 30,605,438 (GRCm38)		probably null	Het
Ranbp17	T	C	11: 33,213,425 (GRCm38)	S1082G	probably benign	Het
Rere	T	A	4: 150,619,144 (GRCm38)	W1528R	probably damaging	Het
Rnf103	T	A	6: 71,510,264 (GRCm38)	F626L	possibly damaging	Het
Rsrc2	A	G	5: 123,739,550 (GRCm38)		probably benign	Het
Scin	T	A	12: 40,069,374 (GRCm38)	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,461,455 (GRCm38)	N1649S	probably damaging	Het
Slain2	T	A	5: 72,958,266 (GRCm38)	M448K	probably benign	Het
Slc25a54	T	C	3: 109,111,079 (GRCm38)	F292L	probably benign	Het
Slc4a1	A	G	11: 102,352,453 (GRCm38)	V784A	probably damaging	Het
Slco1b2	G	A	6: 141,669,370 (GRCm38)	V334I	probably benign	Het
Slf2	T	G	19: 44,971,661 (GRCm38)	D1022E	probably damaging	Het
Smg8	T	C	11: 87,080,710 (GRCm38)	E745G	probably damaging	Het
Smyd1	T	G	6: 71,219,337 (GRCm38)	I322L	probably benign	Het
Snx13	G	A	12: 35,132,033 (GRCm38)	V694I	possibly damaging	Het
Sox6	T	C	7: 115,476,964 (GRCm38)	D814G	probably damaging	Het
Spag6	A	T	2: 18,745,549 (GRCm38)	I469F	probably benign	Het
Spsb2	A	C	6: 124,809,748 (GRCm38)	E148A	probably benign	Het
Srprb	C	A	9: 103,201,948 (GRCm38)	V747L	possibly damaging	Het
Stam	A	G	2: 14,102,416 (GRCm38)	E16G	probably damaging	Het
Taar5	A	T	10: 23,971,570 (GRCm38)	I289F	possibly damaging	Het
Tgif1	C	T	17: 70,845,247 (GRCm38)	R70H	probably damaging	Het
Tmem2	G	A	19: 21,809,289 (GRCm38)	V472I	probably benign	Het
Top2a	A	T	11: 99,002,960 (GRCm38)	L1036H	probably damaging	Het
Tph1	T	A	7: 46,653,859 (GRCm38)	I232F	probably damaging	Het
Ttn	T	C	2: 76,746,831 (GRCm38)	T24573A	probably damaging	Het
Tub	C	T	7: 109,020,954 (GRCm38)	R102*	probably null	Het
Ube2n	T	A	10: 95,541,745 (GRCm38)	W129R	possibly damaging	Het
Usp8	A	T	2: 126,720,140 (GRCm38)	K85*	probably null	Het
Vmn2r81	A	T	10: 79,270,523 (GRCm38)	K445M	probably null	Het
Vps45	T	C	3: 96,019,631 (GRCm38)	T535A	probably damaging	Het
Wdr63	A	G	3: 146,066,827 (GRCm38)	I488T	probably damaging	Het
Zfp157	T	C	5: 138,456,295 (GRCm38)	S252P	possibly damaging	Het
Zfp605	T	A	5: 110,127,701 (GRCm38)	C228*	probably null	Het
Zfp791	T	A	8: 85,110,951 (GRCm38)	I95L	probably benign	Het

Other mutations in Exoc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Exoc2	APN	13	30,820,626 (GRCm38)	missense	probably benign	0.17
IGL01839:Exoc2	APN	13	30,906,799 (GRCm38)	missense	probably damaging	1.00
IGL02092:Exoc2	APN	13	30,875,277 (GRCm38)	missense	probably benign	0.09
IGL02245:Exoc2	APN	13	30,906,859 (GRCm38)	missense	probably benign	0.10
IGL02267:Exoc2	APN	13	30,815,321 (GRCm38)	missense	probably benign
IGL02478:Exoc2	APN	13	30,927,420 (GRCm38)	missense	probably benign
IGL02500:Exoc2	APN	13	30,911,196 (GRCm38)	missense	probably damaging	1.00
IGL03081:Exoc2	APN	13	30,900,902 (GRCm38)	missense	probably benign	0.28
IGL03112:Exoc2	APN	13	30,906,587 (GRCm38)	splice site	probably benign
IGL03409:Exoc2	APN	13	30,940,737 (GRCm38)	utr 5 prime	probably benign
R0284:Exoc2	UTSW	13	30,877,625 (GRCm38)	splice site	probably benign
R0452:Exoc2	UTSW	13	30,886,327 (GRCm38)	splice site	probably benign
R0826:Exoc2	UTSW	13	30,856,797 (GRCm38)	critical splice acceptor site	probably null
R1251:Exoc2	UTSW	13	30,886,276 (GRCm38)	missense	probably benign	0.03
R1367:Exoc2	UTSW	13	30,882,273 (GRCm38)	nonsense	probably null
R1501:Exoc2	UTSW	13	30,935,502 (GRCm38)	missense	probably benign	0.01
R1593:Exoc2	UTSW	13	30,856,761 (GRCm38)	missense	possibly damaging	0.64
R1839:Exoc2	UTSW	13	30,906,497 (GRCm38)	splice site	probably benign
R1872:Exoc2	UTSW	13	30,822,661 (GRCm38)	missense	probably benign	0.17
R2064:Exoc2	UTSW	13	30,935,561 (GRCm38)	missense	probably benign	0.00
R2070:Exoc2	UTSW	13	30,815,370 (GRCm38)	missense	probably benign	0.00
R2227:Exoc2	UTSW	13	30,864,884 (GRCm38)	missense	probably benign
R2507:Exoc2	UTSW	13	30,882,365 (GRCm38)	missense	possibly damaging	0.55
R3965:Exoc2	UTSW	13	30,877,582 (GRCm38)	missense	probably benign	0.00
R4601:Exoc2	UTSW	13	30,882,268 (GRCm38)	missense	probably benign	0.05
R5299:Exoc2	UTSW	13	30,871,918 (GRCm38)	splice site	probably null
R5410:Exoc2	UTSW	13	30,864,856 (GRCm38)	missense	probably damaging	0.98
R5461:Exoc2	UTSW	13	30,925,755 (GRCm38)	missense	possibly damaging	0.66
R5956:Exoc2	UTSW	13	30,820,623 (GRCm38)	missense	probably benign	0.03
R6056:Exoc2	UTSW	13	30,900,829 (GRCm38)	missense	probably benign	0.03
R6107:Exoc2	UTSW	13	30,876,797 (GRCm38)	missense	probably benign
R6548:Exoc2	UTSW	13	30,826,064 (GRCm38)	missense	possibly damaging	0.86
R6692:Exoc2	UTSW	13	30,935,507 (GRCm38)	missense	probably benign	0.09
R6969:Exoc2	UTSW	13	30,911,178 (GRCm38)	missense	probably benign
R7386:Exoc2	UTSW	13	30,906,663 (GRCm38)	splice site	probably null
R7461:Exoc2	UTSW	13	30,882,272 (GRCm38)	missense	probably benign	0.32
R7467:Exoc2	UTSW	13	30,925,733 (GRCm38)	missense	probably damaging	0.98
R7473:Exoc2	UTSW	13	30,822,630 (GRCm38)	critical splice donor site	probably null
R7613:Exoc2	UTSW	13	30,882,272 (GRCm38)	missense	probably benign	0.32
R7767:Exoc2	UTSW	13	30,876,769 (GRCm38)	missense	probably benign	0.01
R7793:Exoc2	UTSW	13	30,911,178 (GRCm38)	missense	probably benign	0.00
R7795:Exoc2	UTSW	13	30,876,773 (GRCm38)	nonsense	probably null
R7993:Exoc2	UTSW	13	30,906,730 (GRCm38)	critical splice donor site	probably null
R8085:Exoc2	UTSW	13	30,940,703 (GRCm38)	missense	probably damaging	1.00
R8330:Exoc2	UTSW	13	30,877,573 (GRCm38)	missense	probably benign
R8716:Exoc2	UTSW	13	30,911,244 (GRCm38)	missense	probably damaging	1.00
R8735:Exoc2	UTSW	13	30,906,839 (GRCm38)	missense	probably damaging	1.00
R8922:Exoc2	UTSW	13	30,871,855 (GRCm38)	missense	probably benign	0.05
R9237:Exoc2	UTSW	13	30,864,875 (GRCm38)	missense	probably benign
R9243:Exoc2	UTSW	13	30,925,795 (GRCm38)	missense	probably benign	0.03
R9365:Exoc2	UTSW	13	30,856,714 (GRCm38)	missense	probably benign	0.00
R9731:Exoc2	UTSW	13	30,877,250 (GRCm38)	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