Mutagenetix > Incidental Mutation

Incidental Mutation 'R9731:Exoc2'

731425

Institutional Source

Beutler Lab

Gene Symbol

Exoc2

Ensembl Gene

ENSMUSG00000021357

Gene Name

exocyst complex component 2

Synonyms

2410030I24Rik, Sec5l1, Sec5

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R9731 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30813919-30974093 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30877250 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 554 (T554A)

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: T554A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000021785
Gene: ENSMUSG00000021357
AA Change: T554A

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: T554A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000100010
Gene: ENSMUSG00000021357
AA Change: T554A

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	T	G	4: 109,505,721	S134R	probably damaging	Het
A930033H14Rik	T	A	10: 69,212,849	R53W	unknown	Het
Abca9	G	T	11: 110,134,198	D1006E	probably benign	Het
Abcc6	T	A	7: 46,020,236	R132*	probably null	Het
Ankrd40	C	T	11: 94,338,424	T283I	probably damaging	Het
Atr	A	G	9: 95,865,039	K125E	possibly damaging	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Cep290	A	T	10: 100,510,542	L527F	probably damaging	Het
Cep295	T	C	9: 15,333,966	N1065D	possibly damaging	Het
Clip2	C	T	5: 134,504,762	R487Q	probably benign	Het
Ddx54	C	T	5: 120,620,742	A350V	probably benign	Het
Defb23	C	T	2: 152,459,413	V80I	probably benign	Het
Dennd5b	G	A	6: 149,068,640	T127I	probably damaging	Het
Dnah6	G	T	6: 73,191,606	Q445K	probably benign	Het
Dync2h1	T	C	9: 7,141,166	H1287R	probably benign	Het
Enpp7	G	A	11: 118,988,325	G37R	probably damaging	Het
Fgf8	T	C	19: 45,742,407	N60D	probably benign	Het
Gdi2	A	G	13: 3,538,299	M1V	probably null	Het
Glra3	G	T	8: 56,089,023	R267L	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Greb1	C	T	12: 16,688,597	R1455H	probably damaging	Het
Grk6	C	A	13: 55,459,827	P575T	possibly damaging	Het
Hpgd	A	T	8: 56,298,356	D73V	probably benign	Het
Hpse	G	A	5: 100,694,156	H288Y	probably damaging	Het
Hpse2	G	A	19: 42,806,387	R506*	probably null	Het
Ing1	C	A	8: 11,561,649	T123N	probably benign	Het
Kdm2b	T	C	5: 122,987,760	D27G	probably benign	Het
Kmt2c	A	T	5: 25,372,958	D773E	probably benign	Het
Lrrc7	T	C	3: 158,175,251	D516G	probably benign	Het
Lrsam1	A	G	2: 32,945,440		probably null	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Ndufaf3	T	C	9: 108,565,959	*186W	probably null	Het
Ndufaf5	C	T	2: 140,170,887	A59V	possibly damaging	Het
Nphp3	T	C	9: 104,009,170	L281S	probably damaging	Het
Olfr1259	T	A	2: 89,943,972	I48F	possibly damaging	Het
Olfr17	T	G	7: 107,097,579	V38G	probably benign	Het
Olfr884	A	T	9: 38,047,596	I125F	probably damaging	Het
Otogl	G	T	10: 107,899,467	T152K	probably damaging	Het
Oxgr1	C	T	14: 120,022,682	V38I	probably benign	Het
Polr2a	G	A	11: 69,747,217	T142M	possibly damaging	Het
Pou6f1	C	T	15: 100,578,325	R560Q	possibly damaging	Het
Rbm33	A	G	5: 28,339,244	E166G	probably damaging	Het
Rgs14	T	A	13: 55,380,971	Y308*	probably null	Het
Rpl10a	T	C	17: 28,328,620		probably benign	Het
Rras2	A	C	7: 114,060,358	I57S	probably damaging	Het
Scn1b	C	T	7: 31,125,171	V31M	probably damaging	Het
Sema6d	G	A	2: 124,664,197	A642T	probably damaging	Het
Sis	T	A	3: 72,928,210	T940S	probably benign	Het
Slc14a1	C	A	18: 78,109,592	A367S	probably damaging	Het
Slc22a27	G	A	19: 7,926,761	Q4*	probably null	Het
Slc44a2	T	A	9: 21,352,474	I646N	possibly damaging	Het
Sprtn	C	A	8: 124,902,965	Y332*	probably null	Het
Srpk1	A	G	17: 28,606,323	I125T	probably damaging	Het
Sv2b	G	A	7: 75,136,320	H451Y	probably benign	Het
Tec	G	A	5: 72,782,096	T192M	probably benign	Het
Tldc1	C	A	8: 119,771,271	A165S	probably benign	Het
Tlr3	G	A	8: 45,397,907	T127M	probably damaging	Het
Trim25	C	A	11: 89,015,565	P405T	probably benign	Het
Trpm4	T	C	7: 45,308,630	D952G	probably damaging	Het
Tsc1	A	G	2: 28,676,474	D635G	probably benign	Het
Ttc7b	T	C	12: 100,495,424	E98G	possibly damaging	Het
Ubr2	A	G	17: 46,963,145		probably null	Het
Usp19	T	A	9: 108,499,686	S1153T	probably damaging	Het
Vmn2r63	A	T	7: 42,903,937	L632M	probably benign	Het
Vps13c	C	T	9: 67,919,244	T1389I	probably benign	Het
Wasf1	T	A	10: 40,930,735	Y125N	probably damaging	Het
Zadh2	T	G	18: 84,095,003	V268G	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
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'- TGCTGAAGAACTGCTTGGC -3'
(R):5'- TCTCCTGGCGTTATTGAAGAC -3'

Sequencing Primer
(F):5'- ACTGCTTGGCTAGATAAGTGAG -3'
(R):5'- CCTGGCGTTATTGAAGACTTTACAG -3'

Posted On

2022-11-14