Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03112:Exoc2'

419251

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 #

IGL03112

Quality Score

Status

Chromosome

Chromosomal Location

30813919-30974093 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 30906587 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021785] [ENSMUST00000102946]

AlphaFold

Q9D4H1

Predicted Effect

probably benign
Transcript: ENSMUST00000021785

SMART Domains

Protein: ENSMUSP00000021785
Gene: ENSMUSG00000021357

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

SMART Domains

Protein: ENSMUSP00000100010
Gene: ENSMUSG00000021357

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221678

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	T	C	8: 43,521,512	N151S	probably benign	Het
Adgre1	G	A	17: 57,448,029		probably null	Het
AI481877	G	T	4: 59,049,355	Q1069K	probably benign	Het
Apol11a	T	A	15: 77,517,309	L332Q	probably damaging	Het
B430306N03Rik	C	T	17: 48,316,806	S45L	probably benign	Het
Cend1	G	A	7: 141,427,727	T60M	probably benign	Het
Col6a3	C	A	1: 90,811,520	E329*	probably null	Het
Col9a3	A	G	2: 180,607,642	R266G	possibly damaging	Het
Defb48	C	T	14: 62,984,405		probably benign	Het
Eps8l2	T	G	7: 141,361,736	L640R	probably damaging	Het
Fam149a	C	T	8: 45,348,543	V514M	possibly damaging	Het
Fbxo25	A	T	8: 13,921,034	D74V	probably benign	Het
Gm11733	A	G	11: 117,487,140	*126W	probably null	Het
Grm8	C	T	6: 27,363,263	C751Y	probably damaging	Het
Kctd16	A	T	18: 40,258,800	D147V	probably benign	Het
Lclat1	A	T	17: 73,239,747	T220S	probably damaging	Het
Lgi1	T	A	19: 38,284,030	H116Q	possibly damaging	Het
Lrrc40	G	A	3: 158,041,665		probably benign	Het
Lsm4	T	A	8: 70,678,006	I60N	probably damaging	Het
Morn1	T	A	4: 155,093,144	Y178N	probably damaging	Het
Mybl2	A	G	2: 163,062,536	E89G	probably damaging	Het
Myo18b	T	C	5: 112,873,990	E512G	probably benign	Het
Myrfl	A	T	10: 116,803,406	S583T	probably benign	Het
Nek6	A	G	2: 38,560,902	I106V	probably damaging	Het
Oas1a	A	T	5: 120,898,349	D338E	possibly damaging	Het
Olfr1113	T	A	2: 87,213,600	I236N	probably damaging	Het
Olfr1249	G	A	2: 89,630,334	T188I	probably benign	Het
Olfr802	A	G	10: 129,681,923	V272A	probably benign	Het
Pitrm1	C	A	13: 6,565,008	Q508K	probably benign	Het
S100b	A	G	10: 76,259,974	D62G	probably damaging	Het
Sesn3	A	G	9: 14,310,261	H119R	probably damaging	Het
Sez6l	T	A	5: 112,473,467	E247V	probably damaging	Het
Shq1	C	A	6: 100,573,613	E455*	probably null	Het
Slc9b1	T	A	3: 135,397,672	M521K	probably damaging	Het
Supt16	A	G	14: 52,176,398	F543L	probably damaging	Het
Tcf25	T	C	8: 123,382,519		probably benign	Het
Usp48	C	A	4: 137,608,064	Q183K	probably damaging	Het
Vmn1r178	G	A	7: 23,893,661	G45S	probably damaging	Het
Vmn1r237	T	A	17: 21,314,106	Y30*	probably null	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
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

2016-08-02