Mutagenetix > Incidental Mutation

Incidental Mutation 'R8735:Exoc2'

662998

Institutional Source

Beutler Lab

Gene Symbol

Exoc2

Ensembl Gene

ENSMUSG00000021357

Gene Name

exocyst complex component 2

Synonyms

2410030I24Rik, Sec5l1, Sec5, Gm29675

MMRRC Submission

068583-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R8735 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30972939-31162082 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 31090822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 261 (L261V)

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 damaging
Transcript: ENSMUST00000021785
AA Change: L261V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021785
Gene: ENSMUSG00000021357
AA Change: L261V

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 damaging
Transcript: ENSMUST00000102946
AA Change: L261V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100010
Gene: ENSMUSG00000021357
AA Change: L261V

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (76/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	G	2: 155,845,731 (GRCm39)	F9S	unknown	Het
Abhd10	A	G	16: 45,557,997 (GRCm39)	F101L	probably damaging	Het
Acp2	A	G	2: 91,034,651 (GRCm39)	T93A	probably benign	Het
Adamts9	C	T	6: 92,837,048 (GRCm39)		probably benign	Het
Aknad1	T	A	3: 108,682,615 (GRCm39)		probably benign	Het
Ank3	A	T	10: 69,822,785 (GRCm39)	T485S	probably benign	Het
Caly	G	A	7: 139,652,503 (GRCm39)	R82C	probably damaging	Het
Cfhr2	A	G	1: 139,786,343 (GRCm39)	L8P	probably damaging	Het
Cpeb2	T	A	5: 43,438,775 (GRCm39)	L869*	probably null	Het
Cxxc1	A	G	18: 74,350,331 (GRCm39)	K33E	possibly damaging	Het
Cyp17a1	T	C	19: 46,659,533 (GRCm39)		probably null	Het
Cyp4a30b	G	A	4: 115,309,976 (GRCm39)	W59*	probably null	Het
Dennd4b	T	C	3: 90,185,172 (GRCm39)	V1204A	probably damaging	Het
Dpyd	T	A	3: 118,935,565 (GRCm39)	D663E	possibly damaging	Het
Esrrg	A	T	1: 187,933,205 (GRCm39)		probably benign	Het
Exosc9	T	C	3: 36,609,662 (GRCm39)	L185S	probably damaging	Het
Gcnt3	T	C	9: 69,941,728 (GRCm39)	K280R	probably benign	Het
Ighv1-64	A	T	12: 115,471,217 (GRCm39)	M100K	probably benign	Het
Impdh2	G	A	9: 108,441,978 (GRCm39)		probably null	Het
Itsn2	T	A	12: 4,721,474 (GRCm39)	I1068K	probably damaging	Het
Kif5c	T	C	2: 49,584,783 (GRCm39)	C169R	probably damaging	Het
Kndc1	A	G	7: 139,490,130 (GRCm39)	S211G	probably benign	Het
Lama2	T	A	10: 27,066,530 (GRCm39)	E1117V	probably damaging	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lsg1	T	A	16: 30,399,865 (GRCm39)		probably null	Het
Mab21l4	C	T	1: 93,082,208 (GRCm39)		probably null	Het
Msh3	A	G	13: 92,411,374 (GRCm39)	S608P	possibly damaging	Het
Mslnl	T	A	17: 25,964,062 (GRCm39)	F464I	probably benign	Het
Mycbp2	T	A	14: 103,460,586 (GRCm39)	K1493N	probably damaging	Het
Myo15a	A	T	11: 60,401,679 (GRCm39)		probably null	Het
Myo1b	A	T	1: 51,794,896 (GRCm39)	F1065I	probably benign	Het
Nf1	A	G	11: 79,345,136 (GRCm39)		probably benign	Het
Nup153	C	A	13: 46,881,027 (GRCm39)		probably benign	Het
Or4f4-ps1	T	A	2: 111,330,497 (GRCm39)	I300K	probably damaging	Het
Or5b97	A	G	19: 12,878,274 (GRCm39)	V290A	possibly damaging	Het
Osbpl7	A	G	11: 96,943,194 (GRCm39)	T149A	probably benign	Het
Parp1	A	G	1: 180,396,690 (GRCm39)	D31G	probably benign	Het
Pcdha6	T	A	18: 37,101,203 (GRCm39)	V132E	possibly damaging	Het
Pcdhb8	T	A	18: 37,489,975 (GRCm39)	L551Q	possibly damaging	Het
Pcsk9	T	A	4: 106,311,808 (GRCm39)	T190S	probably damaging	Het
Pdgfrb	A	T	18: 61,197,049 (GRCm39)	T162S	probably benign	Het
Pi4ka	C	T	16: 17,136,234 (GRCm39)	R908Q		Het
Pnpla8	A	G	12: 44,330,222 (GRCm39)	E258G	probably benign	Het
Prrc2c	A	T	1: 162,537,127 (GRCm39)	S643T	unknown	Het
Rnf20	T	G	4: 49,655,964 (GRCm39)	I970S	possibly damaging	Het
Robo2	A	T	16: 73,755,247 (GRCm39)	V758D	probably damaging	Het
Robo4	G	A	9: 37,319,577 (GRCm39)	S609N	possibly damaging	Het
Rrbp1	G	A	2: 143,830,920 (GRCm39)	Q416*	probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Ryr2	C	A	13: 11,701,833 (GRCm39)	E2941D	probably damaging	Het
Scd2	G	T	19: 44,289,743 (GRCm39)	C246F	probably benign	Het
Sh3rf1	G	A	8: 61,825,687 (GRCm39)	V561I	probably benign	Het
Slc4a4	T	A	5: 89,280,301 (GRCm39)	D366E	probably damaging	Het
Slfn14	T	G	11: 83,174,715 (GRCm39)	Q92P	probably damaging	Het
Slfn4	A	T	11: 83,077,770 (GRCm39)	Y186F	probably damaging	Het
Smpd4	T	C	16: 17,453,410 (GRCm39)	L309P	possibly damaging	Het
Smyd3	G	T	1: 178,920,482 (GRCm39)	N217K	probably benign	Het
Spen	T	C	4: 141,197,129 (GRCm39)	T3547A	probably benign	Het
Suclg1	A	T	6: 73,253,729 (GRCm39)	I126F	unknown	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tmprss15	A	T	16: 78,798,702 (GRCm39)	I660N	possibly damaging	Het
Trf	A	T	9: 103,087,723 (GRCm39)	V677D	probably damaging	Het
Trim36	T	C	18: 46,302,452 (GRCm39)	N532S	probably benign	Het
Trim37	T	C	11: 87,037,885 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,570,454 (GRCm39)	N26813S	probably benign	Het
Vmn1r199	T	A	13: 22,567,537 (GRCm39)	V277D	probably damaging	Het
Wdfy3	T	C	5: 102,077,951 (GRCm39)	D873G	probably benign	Het
Wdr27	T	C	17: 15,103,929 (GRCm39)	T726A	probably damaging	Het
Wdr97	T	C	15: 76,240,775 (GRCm39)	Y488H		Het
Wdtc1	A	T	4: 133,031,511 (GRCm39)	C236*	probably null	Het
Wnk4	A	C	11: 101,167,092 (GRCm39)	S1083R	unknown	Het
Wwc1	A	T	11: 35,774,234 (GRCm39)	I342N	probably damaging	Het
Zbtb40	A	G	4: 136,725,957 (GRCm39)	L534P	probably damaging	Het
Zfp62	T	C	11: 49,108,227 (GRCm39)	C773R	probably damaging	Het
Zfp709	T	A	8: 72,643,027 (GRCm39)	I152N	probably benign	Het
Zfp738	T	C	13: 67,819,550 (GRCm39)	Y147C	probably damaging	Het
Zscan18	A	C	7: 12,503,625 (GRCm39)	S645A	probably benign	Het
Zw10	A	G	9: 48,988,861 (GRCm39)	Y709C	probably damaging	Het

Other mutations in Exoc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Exoc2	APN	13	31,004,609 (GRCm39)	missense	probably benign	0.17
IGL01839:Exoc2	APN	13	31,090,782 (GRCm39)	missense	probably damaging	1.00
IGL02092:Exoc2	APN	13	31,059,260 (GRCm39)	missense	probably benign	0.09
IGL02245:Exoc2	APN	13	31,090,842 (GRCm39)	missense	probably benign	0.10
IGL02267:Exoc2	APN	13	30,999,304 (GRCm39)	missense	probably benign
IGL02478:Exoc2	APN	13	31,111,403 (GRCm39)	missense	probably benign
IGL02500:Exoc2	APN	13	31,095,179 (GRCm39)	missense	probably damaging	1.00
IGL03081:Exoc2	APN	13	31,084,885 (GRCm39)	missense	probably benign	0.28
IGL03112:Exoc2	APN	13	31,090,570 (GRCm39)	splice site	probably benign
IGL03409:Exoc2	APN	13	31,124,720 (GRCm39)	utr 5 prime	probably benign
R0284:Exoc2	UTSW	13	31,061,608 (GRCm39)	splice site	probably benign
R0452:Exoc2	UTSW	13	31,070,310 (GRCm39)	splice site	probably benign
R0826:Exoc2	UTSW	13	31,040,780 (GRCm39)	critical splice acceptor site	probably null
R1251:Exoc2	UTSW	13	31,070,259 (GRCm39)	missense	probably benign	0.03
R1367:Exoc2	UTSW	13	31,066,256 (GRCm39)	nonsense	probably null
R1501:Exoc2	UTSW	13	31,119,485 (GRCm39)	missense	probably benign	0.01
R1593:Exoc2	UTSW	13	31,040,744 (GRCm39)	missense	possibly damaging	0.64
R1839:Exoc2	UTSW	13	31,090,480 (GRCm39)	splice site	probably benign
R1872:Exoc2	UTSW	13	31,006,644 (GRCm39)	missense	probably benign	0.17
R2064:Exoc2	UTSW	13	31,119,544 (GRCm39)	missense	probably benign	0.00
R2070:Exoc2	UTSW	13	30,999,353 (GRCm39)	missense	probably benign	0.00
R2227:Exoc2	UTSW	13	31,048,867 (GRCm39)	missense	probably benign
R2507:Exoc2	UTSW	13	31,066,348 (GRCm39)	missense	possibly damaging	0.55
R3965:Exoc2	UTSW	13	31,061,565 (GRCm39)	missense	probably benign	0.00
R4601:Exoc2	UTSW	13	31,066,251 (GRCm39)	missense	probably benign	0.05
R4914:Exoc2	UTSW	13	31,060,796 (GRCm39)	missense	probably benign	0.21
R5299:Exoc2	UTSW	13	31,055,901 (GRCm39)	splice site	probably null
R5410:Exoc2	UTSW	13	31,048,839 (GRCm39)	missense	probably damaging	0.98
R5461:Exoc2	UTSW	13	31,109,738 (GRCm39)	missense	possibly damaging	0.66
R5956:Exoc2	UTSW	13	31,004,606 (GRCm39)	missense	probably benign	0.03
R6056:Exoc2	UTSW	13	31,084,812 (GRCm39)	missense	probably benign	0.03
R6107:Exoc2	UTSW	13	31,060,780 (GRCm39)	missense	probably benign
R6548:Exoc2	UTSW	13	31,010,047 (GRCm39)	missense	possibly damaging	0.86
R6692:Exoc2	UTSW	13	31,119,490 (GRCm39)	missense	probably benign	0.09
R6969:Exoc2	UTSW	13	31,095,161 (GRCm39)	missense	probably benign
R7386:Exoc2	UTSW	13	31,090,646 (GRCm39)	splice site	probably null
R7461:Exoc2	UTSW	13	31,066,255 (GRCm39)	missense	probably benign	0.32
R7467:Exoc2	UTSW	13	31,109,716 (GRCm39)	missense	probably damaging	0.98
R7473:Exoc2	UTSW	13	31,006,613 (GRCm39)	critical splice donor site	probably null
R7613:Exoc2	UTSW	13	31,066,255 (GRCm39)	missense	probably benign	0.32
R7767:Exoc2	UTSW	13	31,060,752 (GRCm39)	missense	probably benign	0.01
R7793:Exoc2	UTSW	13	31,095,161 (GRCm39)	missense	probably benign	0.00
R7795:Exoc2	UTSW	13	31,060,756 (GRCm39)	nonsense	probably null
R7993:Exoc2	UTSW	13	31,090,713 (GRCm39)	critical splice donor site	probably null
R8085:Exoc2	UTSW	13	31,124,686 (GRCm39)	missense	probably damaging	1.00
R8330:Exoc2	UTSW	13	31,061,556 (GRCm39)	missense	probably benign
R8716:Exoc2	UTSW	13	31,095,227 (GRCm39)	missense	probably damaging	1.00
R8922:Exoc2	UTSW	13	31,055,838 (GRCm39)	missense	probably benign	0.05
R9237:Exoc2	UTSW	13	31,048,858 (GRCm39)	missense	probably benign
R9243:Exoc2	UTSW	13	31,109,778 (GRCm39)	missense	probably benign	0.03
R9365:Exoc2	UTSW	13	31,040,697 (GRCm39)	missense	probably benign	0.00
R9731:Exoc2	UTSW	13	31,061,233 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- ACACGTTGTGAGATCATTAGGAAAG -3'
(R):5'- TGAAGACAGTTTCCCATATCCC -3'

Sequencing Primer
(F):5'- TCATTAGGAAAGAACAATGAGCAC -3'
(R):5'- CCCATTTATTAACTGTAGTGTGATGC -3'

Posted On

2021-03-08