Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Probably essential (E-score: 0.957) 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	S59P	probably damaging	Het
Ace	G	A	11: 105,979,597	V281M	probably damaging	Het
Ap1b1	C	T	11: 5,024,400	T363I	possibly damaging	Het
Apobec2	T	C	17: 48,423,125	E171G	probably benign	Het
Arhgef1	T	A	7: 24,923,839	L436Q	probably damaging	Het
Atxn2	T	A	5: 121,749,096	D276E	probably damaging	Het
AU040320	A	T	4: 126,835,676	K544*	probably null	Het
Baz2b	T	A	2: 59,914,043	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,378,886	D324G	probably damaging	Het
Bdp1	A	G	13: 100,056,336	V1330A	probably benign	Het
Bfsp1	C	T	2: 143,827,471	R396Q	probably benign	Het
Bpifb9b	T	A	2: 154,314,106		probably null	Het
Cabs1	T	C	5: 87,980,437	Y316H	probably damaging	Het
Carmil2	A	G	8: 105,693,543	K908E	possibly damaging	Het
Ccdc188	C	A	16: 18,218,219	P86Q	probably benign	Het
Cdh26	T	C	2: 178,449,821	S58P	probably benign	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dclk2	A	T	3: 86,824,742		probably null	Het
Dennd5a	A	G	7: 109,901,089	F943S	probably damaging	Het
Disp2	A	T	2: 118,790,454	S556C	probably damaging	Het
Dpp4	A	T	2: 62,347,892	M632K	probably benign	Het
E030030I06Rik	G	A	10: 22,114,298	T192M	possibly damaging	Het
Ece2	C	T	16: 20,644,070	R582C	probably damaging	Het
Ehbp1	T	C	11: 22,146,592	D299G	probably benign	Het
Emc1	C	T	4: 139,375,165	R924*	probably null	Het
Etaa1	A	T	11: 17,946,532	S528R	probably benign	Het
Fasn	T	G	11: 120,816,646	N799T	probably benign	Het
Fbxo3	T	G	2: 104,054,966	N388K	probably damaging	Het
Fbxw16	C	T	9: 109,438,177	V329I	probably benign	Het
Fer1l4	T	C	2: 156,031,300	K1287E	probably benign	Het
Fermt1	A	G	2: 132,906,840	V621A	probably damaging	Het
Fnbp4	A	G	2: 90,751,169	T189A	probably benign	Het
Fut8	G	T	12: 77,475,044	A486S	probably damaging	Het
G6pd2	T	A	5: 61,810,329	Y482*	probably null	Het
Gfra1	A	T	19: 58,267,090	S308R	probably damaging	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gper1	A	G	5: 139,426,868	I323V	probably benign	Het
Grm5	C	A	7: 88,130,129	R958S	probably benign	Het
H2-DMb2	A	G	17: 34,150,529	T85A	probably benign	Het
Hgsnat	A	G	8: 25,964,838	S220P	probably damaging	Het
Hspa12a	A	T	19: 58,799,452	M646K	probably damaging	Het
Inpp5f	A	T	7: 128,685,116	D573V	probably damaging	Het
Jmjd1c	A	G	10: 67,218,971	N344D	probably damaging	Het
Kif1c	A	G	11: 70,708,855	E471G	probably damaging	Het
Lalba	T	A	15: 98,482,180	N63I	probably benign	Het
Mcoln1	T	A	8: 3,507,483	L163*	probably null	Het
Mllt1	T	C	17: 56,899,813	T344A	probably benign	Het
Mpzl2	T	A	9: 45,043,848	D114E	probably benign	Het
Myef2	T	A	2: 125,109,739	K259*	probably null	Het
Myh8	C	A	11: 67,292,684	D740E	probably damaging	Het
Myo1b	A	T	1: 51,824,208		probably null	Het
Nfix	T	C	8: 84,771,829	I172V	probably benign	Het
Olfr1369-ps1	A	T	13: 21,116,397	Q235L	probably benign	Het
Olfr1459	T	A	19: 13,145,991	I223L	possibly damaging	Het
Olfr362	A	T	2: 37,105,158	I164N	possibly damaging	Het
Olfr401	A	T	11: 74,121,879	I197F	probably benign	Het
Olfr90	T	C	17: 37,085,991	Y58C	probably damaging	Het
Orc1	T	C	4: 108,604,558	F584S	probably damaging	Het
Osgin1	C	A	8: 119,442,544	A60D	possibly damaging	Het
Pde4dip	C	A	3: 97,715,328	V1522L	probably benign	Het
Phactr1	A	G	13: 43,133,963	T556A	possibly damaging	Het
Ppfia2	G	C	10: 106,762,117	L180F	probably damaging	Het
Ppm1k	T	A	6: 57,510,777	N354Y	probably damaging	Het
Ppp1r1a	A	G	15: 103,537,838	V14A	probably damaging	Het
Prkcd	A	T	14: 30,605,438		probably null	Het
Ranbp17	T	C	11: 33,213,425	S1082G	probably benign	Het
Rere	T	A	4: 150,619,144	W1528R	probably damaging	Het
Rnf103	T	A	6: 71,510,264	F626L	possibly damaging	Het
Rsrc2	A	G	5: 123,739,550		probably benign	Het
Scin	T	A	12: 40,069,374	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,461,455	N1649S	probably damaging	Het
Slain2	T	A	5: 72,958,266	M448K	probably benign	Het
Slc25a54	T	C	3: 109,111,079	F292L	probably benign	Het
Slc4a1	A	G	11: 102,352,453	V784A	probably damaging	Het
Slco1b2	G	A	6: 141,669,370	V334I	probably benign	Het
Slf2	T	G	19: 44,971,661	D1022E	probably damaging	Het
Smg8	T	C	11: 87,080,710	E745G	probably damaging	Het
Smyd1	T	G	6: 71,219,337	I322L	probably benign	Het
Snx13	G	A	12: 35,132,033	V694I	possibly damaging	Het
Sox6	T	C	7: 115,476,964	D814G	probably damaging	Het
Spag6	A	T	2: 18,745,549	I469F	probably benign	Het
Spsb2	A	C	6: 124,809,748	E148A	probably benign	Het
Srprb	C	A	9: 103,201,948	V747L	possibly damaging	Het
Stam	A	G	2: 14,102,416	E16G	probably damaging	Het
Taar5	A	T	10: 23,971,570	I289F	possibly damaging	Het
Tgif1	C	T	17: 70,845,247	R70H	probably damaging	Het
Tmem2	G	A	19: 21,809,289	V472I	probably benign	Het
Top2a	A	T	11: 99,002,960	L1036H	probably damaging	Het
Tph1	T	A	7: 46,653,859	I232F	probably damaging	Het
Ttn	T	C	2: 76,746,831	T24573A	probably damaging	Het
Tub	C	T	7: 109,020,954	R102*	probably null	Het
Ube2n	T	A	10: 95,541,745	W129R	possibly damaging	Het
Usp8	A	T	2: 126,720,140	K85*	probably null	Het
Vmn2r81	A	T	10: 79,270,523	K445M	probably null	Het
Vps45	T	C	3: 96,019,631	T535A	probably damaging	Het
Wdr63	A	G	3: 146,066,827	I488T	probably damaging	Het
Zfp157	T	C	5: 138,456,295	S252P	possibly damaging	Het
Zfp605	T	A	5: 110,127,701	C228*	probably null	Het
Zfp791	T	A	8: 85,110,951	I95L	probably benign	Het

Other mutations in Exoc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Exoc2	APN	13	30820626	missense	probably benign	0.17
IGL01839:Exoc2	APN	13	30906799	missense	probably damaging	1.00
IGL02092:Exoc2	APN	13	30875277	missense	probably benign	0.09
IGL02245:Exoc2	APN	13	30906859	missense	probably benign	0.10
IGL02267:Exoc2	APN	13	30815321	missense	probably benign
IGL02478:Exoc2	APN	13	30927420	missense	probably benign
IGL02500:Exoc2	APN	13	30911196	missense	probably damaging	1.00
IGL03081:Exoc2	APN	13	30900902	missense	probably benign	0.28
IGL03112:Exoc2	APN	13	30906587	splice site	probably benign
IGL03409:Exoc2	APN	13	30940737	utr 5 prime	probably benign
R0284:Exoc2	UTSW	13	30877625	splice site	probably benign
R0452:Exoc2	UTSW	13	30886327	splice site	probably benign
R0826:Exoc2	UTSW	13	30856797	critical splice acceptor site	probably null
R1251:Exoc2	UTSW	13	30886276	missense	probably benign	0.03
R1367:Exoc2	UTSW	13	30882273	nonsense	probably null
R1501:Exoc2	UTSW	13	30935502	missense	probably benign	0.01
R1593:Exoc2	UTSW	13	30856761	missense	possibly damaging	0.64
R1839:Exoc2	UTSW	13	30906497	splice site	probably benign
R1872:Exoc2	UTSW	13	30822661	missense	probably benign	0.17
R2064:Exoc2	UTSW	13	30935561	missense	probably benign	0.00
R2070:Exoc2	UTSW	13	30815370	missense	probably benign	0.00
R2227:Exoc2	UTSW	13	30864884	missense	probably benign
R2507:Exoc2	UTSW	13	30882365	missense	possibly damaging	0.55
R3965:Exoc2	UTSW	13	30877582	missense	probably benign	0.00
R4601:Exoc2	UTSW	13	30882268	missense	probably benign	0.05
R5299:Exoc2	UTSW	13	30871918	splice site	probably null
R5410:Exoc2	UTSW	13	30864856	missense	probably damaging	0.98
R5461:Exoc2	UTSW	13	30925755	missense	possibly damaging	0.66
R5956:Exoc2	UTSW	13	30820623	missense	probably benign	0.03
R6056:Exoc2	UTSW	13	30900829	missense	probably benign	0.03
R6107:Exoc2	UTSW	13	30876797	missense	probably benign
R6548:Exoc2	UTSW	13	30826064	missense	possibly damaging	0.86
R6692:Exoc2	UTSW	13	30935507	missense	probably benign	0.09
R6969:Exoc2	UTSW	13	30911178	missense	probably benign
R7386:Exoc2	UTSW	13	30906663	splice site	probably null
R7461:Exoc2	UTSW	13	30882272	missense	probably benign	0.32
R7467:Exoc2	UTSW	13	30925733	missense	probably damaging	0.98
R7473:Exoc2	UTSW	13	30822630	critical splice donor site	probably null
R7613:Exoc2	UTSW	13	30882272	missense	probably benign	0.32
R7767:Exoc2	UTSW	13	30876769	missense	probably benign	0.01
R7793:Exoc2	UTSW	13	30911178	missense	probably benign	0.00
R7795:Exoc2	UTSW	13	30876773	nonsense	probably null
R7993:Exoc2	UTSW	13	30906730	critical splice donor site	probably null
R8085:Exoc2	UTSW	13	30940703	missense	probably damaging	1.00
R8330:Exoc2	UTSW	13	30877573	missense	probably benign
R8716:Exoc2	UTSW	13	30911244	missense	probably damaging	1.00
R8735:Exoc2	UTSW	13	30906839	missense	probably damaging	1.00
R8922:Exoc2	UTSW	13	30871855	missense	probably benign	0.05
R9237:Exoc2	UTSW	13	30864875	missense	probably benign
R9243:Exoc2	UTSW	13	30925795	missense	probably benign	0.03
R9365:Exoc2	UTSW	13	30856714	missense	probably benign	0.00

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