Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02478:Exoc2'

295070

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: 0.960) question?

Stock #

IGL02478

Quality Score

Status

Chromosome

Chromosomal Location

30813919-30974093 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30927420 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 142 (C142S)

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: C142S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021785
Gene: ENSMUSG00000021357
AA Change: C142S

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: C142S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100010
Gene: ENSMUSG00000021357
AA Change: C142S

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: ENSMUST00000220532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222133

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	A	5: 8,806,018	A42E	probably damaging	Het
Agmo	T	A	12: 37,401,986	F247L	probably damaging	Het
Arap1	C	A	7: 101,400,125		probably null	Het
Arid1a	T	C	4: 133,681,274	D1974G	unknown	Het
Asxl3	C	T	18: 22,523,013	A1360V	possibly damaging	Het
Celsr1	T	A	15: 85,941,136	T1599S	possibly damaging	Het
Chrdl2	T	C	7: 100,020,983		probably null	Het
Csmd3	T	C	15: 47,838,398		probably benign	Het
Dis3l	C	T	9: 64,314,773	E452K	probably benign	Het
Dnajc2	A	T	5: 21,776,790	H45Q	probably damaging	Het
Eps8	G	A	6: 137,522,842	P213L	probably benign	Het
Erbb3	T	A	10: 128,571,358	R978*	probably null	Het
Fam184b	T	C	5: 45,537,697	E735G	probably damaging	Het
Fam208b	T	C	13: 3,574,661	E1763G	probably benign	Het
Fancm	T	C	12: 65,077,090	V174A	probably damaging	Het
Fat4	T	C	3: 38,888,215	L419P	probably damaging	Het
Fsip2	G	T	2: 82,984,392	V3490L	probably benign	Het
Ftcd	A	T	10: 76,581,421	R255*	probably null	Het
Galc	T	C	12: 98,213,132	N506S	possibly damaging	Het
Gm20441	G	T	10: 75,772,810	A26E	probably damaging	Het
Gm21969	T	G	4: 139,640,688		probably null	Het
Hspb11	T	A	4: 107,275,252	S79T	probably benign	Het
Ifitm3	T	A	7: 141,009,874	M89L	possibly damaging	Het
Inmt	T	C	6: 55,173,370	E94G	probably damaging	Het
Insrr	G	A	3: 87,809,412	G649D	probably benign	Het
Ivd	T	C	2: 118,862,091	L24P	probably benign	Het
Kcnc1	A	G	7: 46,435,169	N506D	probably benign	Het
Krt39	T	A	11: 99,520,897	D121V	probably benign	Het
Lcp1	A	G	14: 75,224,096	I510V	probably benign	Het
Mkx	C	T	18: 7,002,418	V43M	probably damaging	Het
Mmp2	A	G	8: 92,852,607	N108S	possibly damaging	Het
Mob1b	T	C	5: 88,756,088		probably benign	Het
Morc3	A	G	16: 93,864,956		probably benign	Het
Myh13	T	G	11: 67,369,378	S1881A	probably benign	Het
Nalcn	T	C	14: 123,321,305	E843G	probably benign	Het
Ngef	A	G	1: 87,480,579		probably benign	Het
Olfr293	T	A	7: 86,664,136	I158N	probably damaging	Het
Osm	A	G	11: 4,239,507	Y97C	probably damaging	Het
Pclo	T	A	5: 14,766,778	L4556Q	unknown	Het
Pcyox1l	T	C	18: 61,697,709	D364G	probably benign	Het
Plekha6	T	A	1: 133,283,293	V467E	probably benign	Het
Qrsl1	A	T	10: 43,882,162	S312T	probably damaging	Het
Ripk1	T	A	13: 34,010,589	L70Q	probably damaging	Het
Rnaseh1	A	T	12: 28,655,663	Y162F	probably damaging	Het
Ror2	T	A	13: 53,121,667	T195S	probably damaging	Het
Sh3bp2	T	C	5: 34,551,662	L33P	probably damaging	Het
Skil	T	A	3: 31,097,819	C163*	probably null	Het
Slc25a37	A	T	14: 69,249,434	N133K	probably benign	Het
Slitrk3	A	C	3: 73,050,713	V242G	probably damaging	Het
Sra1	A	G	18: 36,668,792	S82P	probably benign	Het
Synj2	A	G	17: 6,037,924	N1417D	probably benign	Het
Tas2r122	A	G	6: 132,711,615	V105A	possibly damaging	Het
Ttc21b	T	C	2: 66,188,280	N1261S	probably benign	Het
Vmn2r69	A	G	7: 85,406,681	S750P	probably damaging	Het
Wdr95	A	G	5: 149,596,321	T568A	probably benign	Het
Zfp319	T	A	8: 95,329,093	I161F	possibly damaging	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
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

2015-04-16