Mutagenetix > Incidental Mutations

Incidental Mutation 'R7767:Exoc2'

598330

Institutional Source

Beutler Lab

Gene Symbol

Exoc2

Ensembl Gene

ENSMUSG00000021357

Gene Name

exocyst complex component 2

Synonyms

2410030I24Rik, Sec5l1, Sec5

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R7767 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30813919-30974093 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30876769 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 584 (I584K)

Ref Sequence

ENSEMBL: ENSMUSP00000021785 (fasta)

Gene Model

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

AlphaFold

Q9D4H1

PDB Structure

RAL BINDING DOMAIN FROM SEC5 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000021785
AA Change: I584K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000021785
Gene: ENSMUSG00000021357
AA Change: I584K

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: I584K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000100010
Gene: ENSMUSG00000021357
AA Change: I584K

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	T	3: 36,920,287		probably null	Het
Aox4	C	A	1: 58,235,207	S384Y	probably damaging	Het
Arhgef15	T	C	11: 68,953,847	E308G	probably damaging	Het
Asb15	A	G	6: 24,559,282	D142G	probably benign	Het
Atg13	A	G	2: 91,679,366	S394P	probably damaging	Het
Atp10a	G	C	7: 58,658,849	W132S	probably damaging	Het
BC003331	A	G	1: 150,372,037	V387A	probably benign	Het
Bod1l	T	A	5: 41,816,756	N2405I	probably benign	Het
Capsl	C	T	15: 9,462,684	R137C	probably damaging	Het
Cd109	T	A	9: 78,710,159	M1313K	probably damaging	Het
Chst13	G	A	6: 90,309,584	A132V	possibly damaging	Het
Cobl	T	C	11: 12,412,117		probably benign	Het
Coq9	A	T	8: 94,850,586	E193V	probably benign	Het
Cpd	T	A	11: 76,813,559	I410F	probably benign	Het
Cyth3	T	G	5: 143,707,474	V351G	probably damaging	Het
Dcdc2c	T	C	12: 28,470,257	K607E		Het
Dcp1a	T	C	14: 30,479,818		probably null	Het
Dennd3	A	G	15: 73,522,230	I35V	probably benign	Het
Dlgap4	C	T	2: 156,746,053	R606W	probably damaging	Het
Dnhd1	A	G	7: 105,694,610	I1720M	probably benign	Het
Erbin	A	G	13: 103,859,399	L265P	probably damaging	Het
Ern1	T	C	11: 106,400,308	D847G	probably damaging	Het
Esyt3	T	G	9: 99,324,971	S342R	probably benign	Het
Fam240a	T	C	9: 110,915,022	R50G	probably damaging	Het
Glis3	A	T	19: 28,263,960	M858K	probably benign	Het
Gls2	C	T	10: 128,195,129	R86C	unknown	Het
Gm10972	C	A	3: 94,643,594	Y25*	probably null	Het
H2-T10	A	T	17: 36,117,730	M350K	probably benign	Het
Has1	A	T	17: 17,850,530	V43D	probably damaging	Het
Herc2	T	A	7: 56,228,527	S4609R	probably benign	Het
Hmgcs2	A	C	3: 98,291,266	T162P	probably damaging	Het
Hspg2	G	T	4: 137,511,866	C368F	probably damaging	Het
Ighv11-1	A	G	12: 113,982,102	S44P	probably damaging	Het
Inppl1	A	G	7: 101,824,338	V1035A	probably benign	Het
Kmt2a	C	T	9: 44,818,998	V3341I	unknown	Het
Lrp1b	T	C	2: 40,801,505	N3434S		Het
Lrriq1	G	C	10: 103,215,954	S312R	probably damaging	Het
Map1a	G	A	2: 121,302,036	S1111N	probably damaging	Het
Myo15	T	C	11: 60,502,096	V1029A		Het
Nol11	T	C	11: 107,179,082	H314R	possibly damaging	Het
Nphs1	A	T	7: 30,463,308	D404V	probably damaging	Het
Olfr550	A	T	7: 102,571,764		probably benign	Het
Pabpc2	T	C	18: 39,774,554	Y291H	possibly damaging	Het
Pcdh15	G	A	10: 74,486,256	A1020T	probably benign	Het
Pla2g4f	A	C	2: 120,305,009	S395A	possibly damaging	Het
Ppp1r18	A	G	17: 35,867,284	Q17R	probably damaging	Het
Prokr2	A	T	2: 132,374,076	V155D	probably damaging	Het
Pwwp2a	T	G	11: 43,705,869	C620W	probably damaging	Het
Rabepk	T	C	2: 34,785,593	D175G	probably damaging	Het
Rad54l	T	C	4: 116,099,669	Y485C	probably damaging	Het
Rasef	A	G	4: 73,734,534	S577P	probably damaging	Het
Rgma	C	A	7: 73,418,004	L446I	unknown	Het
Rnf212b	T	C	14: 54,842,368	S182P	probably damaging	Het
Rnf6	C	A	5: 146,211,176	R344I	probably damaging	Het
Rnf6	T	A	5: 146,211,177	R344*	probably null	Het
Sgo1	A	G	17: 53,679,611	I184T	possibly damaging	Het
Sgpl1	A	T	10: 61,117,723	I78N	possibly damaging	Het
Snx13	T	A	12: 35,107,484	Y510N	probably damaging	Het
Sptbn2	G	A	19: 4,734,143	E638K	possibly damaging	Het
Sspo	A	G	6: 48,451,382	T349A	probably damaging	Het
Sv2c	C	T	13: 95,989,715	S343N	probably damaging	Het
Syne1	C	A	10: 5,333,560	V1502F	possibly damaging	Het
Syne1	T	A	10: 5,333,632	I1478F	possibly damaging	Het
Tmem121	C	T	12: 113,188,372	A70V	probably damaging	Het
Tmem215	A	G	4: 40,474,042	I40V	possibly damaging	Het
Trim25	A	G	11: 89,009,117		probably null	Het
Trio	A	G	15: 27,889,418	V534A	unknown	Het
Tyr	T	A	7: 87,493,010	E114V	probably benign	Het
Ush2a	A	T	1: 188,553,260	T1998S	probably benign	Het
Usp40	G	T	1: 87,982,178	A518E	probably benign	Het
Usp48	T	A	4: 137,604,645		probably null	Het
Vash1	T	A	12: 86,686,993	F152L	probably damaging	Het
Vsig10l	C	A	7: 43,463,717	P31Q	probably damaging	Het
Xab2	C	T	8: 3,619,018	E43K	probably benign	Het
Zfp423	G	A	8: 87,780,884	S944F	probably damaging	Het
Zp2	A	T	7: 120,137,169	D350E	probably benign	Het
Zscan4e	T	G	7: 11,307,534	Q165P	probably 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
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
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'- AACGGTGTTCTGATTTCATGTGAC -3'
(R):5'- ATGCTGTCACTCCTGAGCTC -3'

Sequencing Primer
(F):5'- ATCCACATGTTTTTAACCTGGGAC -3'
(R):5'- TCACTCCTGAGCTCCGTGAG -3'

Posted On

2019-11-26