Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00095:Exoc2'

1026

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Exoc2

Ensembl Gene

ENSMUSG00000021357

Gene Name

exocyst complex component 2

Synonyms

2410030I24Rik, Sec5l1, Sec5

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

IGL00095

Quality Score

Status

Chromosome

Chromosomal Location

30813919-30974093 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30820626 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 858 (I858T)

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: I858T

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021785
Gene: ENSMUSG00000021357
AA Change: I858T

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: I858T

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000100010
Gene: ENSMUSG00000021357
AA Change: I858T

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadm2	A	T	16: 66,882,751	Y65N	probably damaging	Het
Catsperg2	C	A	7: 29,698,058	C1042F	possibly damaging	Het
Cluh	T	C	11: 74,664,064	V776A	probably benign	Het
Crxos	T	A	7: 15,898,618	C116*	probably null	Het
Csmd1	A	G	8: 16,009,297		probably benign	Het
Cubn	C	A	2: 13,491,820		probably benign	Het
Fam105a	A	G	15: 27,658,116	S273P	possibly damaging	Het
Frmpd1	C	A	4: 45,279,456	T727K	possibly damaging	Het
Gm3139	T	C	5: 94,537,804	L441P	probably damaging	Het
Hapln3	T	C	7: 79,121,983	T53A	probably damaging	Het
Hnrnpul1	T	A	7: 25,726,154	Q584L	possibly damaging	Het
Ikbkb	A	T	8: 22,706,111	F26I	probably damaging	Het
Il31ra	A	T	13: 112,547,478	I120N	possibly damaging	Het
Itih1	C	T	14: 30,929,821	V855M	probably benign	Het
Krtap4-16	A	G	11: 99,851,206	S123P	possibly damaging	Het
Large1	C	T	8: 72,837,497	R547Q	probably damaging	Het
Madd	A	G	2: 91,175,766		probably benign	Het
Mark1	A	G	1: 184,898,603	V770A	probably damaging	Het
Mpeg1	T	C	19: 12,462,710	F511L	probably benign	Het
Mrgpra9	A	G	7: 47,235,091	V276A	possibly damaging	Het
Nav3	T	C	10: 109,841,733	T666A	probably damaging	Het
Ndufa8	T	C	2: 36,044,455	D37G	probably damaging	Het
Nlrx1	A	G	9: 44,253,279	L956P	probably damaging	Het
Nr5a1	T	C	2: 38,708,341	E148G	probably benign	Het
Olfr310	T	C	7: 86,269,669	N40S	probably damaging	Het
Olfr509	A	T	7: 108,645,836	F247I	possibly damaging	Het
Patj	A	C	4: 98,535,562	Q1184P	possibly damaging	Het
Phf20l1	A	G	15: 66,629,035	T619A	probably benign	Het
Pla2g6	T	C	15: 79,289,241	T643A	probably damaging	Het
Radil	A	G	5: 142,497,922	S510P	probably damaging	Het
Spock1	A	G	13: 57,587,739		probably benign	Het
Stag3	C	T	5: 138,299,138	T577M	probably damaging	Het
Tap2	C	T	17: 34,215,378	R613C	probably benign	Het
Tnn	A	G	1: 160,125,451	V673A	possibly damaging	Het
Trrap	T	C	5: 144,779,974		probably benign	Het
Vmn2r28	T	C	7: 5,488,069	D393G	probably benign	Het
Zbtb48	T	C	4: 152,021,394	H418R	probably damaging	Het
Zc3h12d	T	C	10: 7,862,467	V179A	probably damaging	Het

Other mutations in Exoc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4914:Exoc2	UTSW	13	30876813	missense	probably benign	0.21
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
R9731:Exoc2	UTSW	13	30877250	missense	probably benign	0.06

Posted On

2011-07-12