Mutagenetix > Incidental Mutation

Incidental Mutation 'R8922:Exoc2'

679352

Institutional Source

Beutler Lab

Gene Symbol

Exoc2

Ensembl Gene

ENSMUSG00000021357

Gene Name

exocyst complex component 2

Synonyms

2410030I24Rik, Sec5l1, Sec5, Gm29675

MMRRC Submission

068767-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R8922 (G1)

Quality Score

180.009

Status

Validated

Chromosome

Chromosomal Location

30972939-31162082 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31055838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 660 (I660N)

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: I660N

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000021785
Gene: ENSMUSG00000021357
AA Change: I660N

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: I660N

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000100010
Gene: ENSMUSG00000021357
AA Change: I660N

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

Meta Mutation Damage Score

0.0909

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (78/78)

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
4933402J07Rik	A	G	8: 88,295,177 (GRCm39)	D105G	possibly damaging	Het
Abhd14b	T	C	9: 106,328,835 (GRCm39)		probably null	Het
Acot1	C	T	12: 84,064,085 (GRCm39)	Q398*	probably null	Het
Adam26b	A	T	8: 43,973,216 (GRCm39)	D595E	probably damaging	Het
Aldh1l1	T	A	6: 90,536,256 (GRCm39)	F54I	probably damaging	Het
Arhgap33	C	T	7: 30,223,417 (GRCm39)	E871K	probably damaging	Het
Aspg	A	T	12: 112,089,830 (GRCm39)	D456V	possibly damaging	Het
Cacna1b	A	C	2: 24,622,340 (GRCm39)	S215A	possibly damaging	Het
Car3	A	T	3: 14,931,952 (GRCm39)	T108S		Het
Ccdc91	C	T	6: 147,412,358 (GRCm39)	Q23*	probably null	Het
Cd300lg	A	T	11: 101,945,028 (GRCm39)	I413F	probably damaging	Het
Ces2h	T	A	8: 105,744,756 (GRCm39)	M378K	probably benign	Het
Cfap44	C	T	16: 44,272,030 (GRCm39)	T1261I	probably benign	Het
Cir1	G	A	2: 73,118,053 (GRCm39)	S164L	possibly damaging	Het
Clasp2	A	T	9: 113,725,728 (GRCm39)	K790*	probably null	Het
Cpne8	A	T	15: 90,456,213 (GRCm39)	D183E	probably damaging	Het
Dhrs13	A	G	11: 77,923,425 (GRCm39)	I48V	possibly damaging	Het
Dpp8	G	T	9: 64,981,793 (GRCm39)	V692L	probably benign	Het
Exosc5	T	C	7: 25,363,673 (GRCm39)	V88A	probably benign	Het
Extl3	G	A	14: 65,292,255 (GRCm39)	T856I	probably damaging	Het
Flnc	T	C	6: 29,456,835 (GRCm39)	V2277A	probably damaging	Het
Frmd8	A	G	19: 5,923,295 (GRCm39)	I52T	probably benign	Het
Gm8947	C	T	1: 151,068,655 (GRCm39)	R163C	probably benign	Het
Golga7	A	T	8: 23,740,288 (GRCm39)	C81S	probably damaging	Het
Grik1	A	C	16: 87,693,167 (GRCm39)	S879A	unknown	Het
Helz	A	G	11: 107,539,985 (GRCm39)	T1002A	possibly damaging	Het
Hes1	T	A	16: 29,884,725 (GRCm39)	L62*	probably null	Het
Hmgn2-ps	A	G	8: 73,058,953 (GRCm39)	S25P	probably benign	Het
Hnrnpdl	A	T	5: 100,184,419 (GRCm39)	Y371*	probably null	Het
Ifna11	T	C	4: 88,738,431 (GRCm39)	V79A	probably benign	Het
Itga4	A	G	2: 79,085,938 (GRCm39)		probably benign	Het
Kap	T	C	6: 133,827,054 (GRCm39)	I110V	probably benign	Het
Lmbrd2	A	G	15: 9,172,231 (GRCm39)	K342E	probably damaging	Het
Lrba	A	G	3: 86,263,973 (GRCm39)	D1549G	probably damaging	Het
Luzp1	C	T	4: 136,270,233 (GRCm39)	H819Y	probably damaging	Het
Mmp21	T	A	7: 133,276,000 (GRCm39)		probably benign	Het
Mto1	T	C	9: 78,377,928 (GRCm39)	V590A	probably benign	Het
Myom3	T	C	4: 135,492,222 (GRCm39)	L122P	probably damaging	Het
Nat10	T	C	2: 103,582,938 (GRCm39)	Y161C	probably damaging	Het
Ncor2	A	G	5: 125,163,939 (GRCm39)	V197A	unknown	Het
Opn4	A	C	14: 34,314,955 (GRCm39)	S439R	probably benign	Het
Or12j3	T	A	7: 139,953,389 (GRCm39)	I45F	possibly damaging	Het
Or4c3d	C	A	2: 89,882,695 (GRCm39)		probably benign	Het
Or56a41	C	A	7: 104,740,469 (GRCm39)	V126L	probably benign	Het
Or5b12b	A	G	19: 12,861,458 (GRCm39)	Y71C	probably damaging	Het
Or5p75-ps1	T	A	7: 108,107,957 (GRCm39)	D231E	unknown	Het
Pik3c2a	G	T	7: 116,017,659 (GRCm39)	Q33K	probably damaging	Het
Pm20d1	G	T	1: 131,728,853 (GRCm39)	S93I	possibly damaging	Het
Pou3f1	C	T	4: 124,552,176 (GRCm39)	A226V	possibly damaging	Het
Ppl	T	C	16: 4,923,815 (GRCm39)	E191G	probably benign	Het
Prkag1	T	C	15: 98,712,147 (GRCm39)	T208A	probably benign	Het
Rb1cc1	T	C	1: 6,319,194 (GRCm39)	I871T	probably benign	Het
Rhd	T	C	4: 134,612,627 (GRCm39)	S293P	probably damaging	Het
Rprd2	G	T	3: 95,687,896 (GRCm39)	T252K	probably damaging	Het
Scn5a	C	A	9: 119,363,766 (GRCm39)	R458L	probably benign	Het
Scrib	C	T	15: 75,933,587 (GRCm39)		probably null	Het
Sec24d	G	A	3: 123,144,488 (GRCm39)	G655E	probably damaging	Het
Serpine3	A	G	14: 62,910,503 (GRCm39)	R199G	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc44a1	A	G	4: 53,544,545 (GRCm39)	K419E	probably damaging	Het
Speer4a3	C	T	5: 26,156,594 (GRCm39)	M128I	possibly damaging	Het
Styxl1	T	C	5: 135,776,634 (GRCm39)	E318G	probably benign	Het
Tcstv2a	A	G	13: 120,725,666 (GRCm39)	E110G	probably benign	Het
Tesmin	A	G	19: 3,454,163 (GRCm39)	K346E	probably damaging	Het
Thpo	A	T	16: 20,547,680 (GRCm39)	L6Q	unknown	Het
Tlr2	T	A	3: 83,745,075 (GRCm39)	E336V	probably benign	Het
Tmem167b	A	G	3: 108,467,541 (GRCm39)	L35P	probably benign	Het
Topaz1	A	T	9: 122,625,101 (GRCm39)	E1395D	possibly damaging	Het
Trim29	G	T	9: 43,233,636 (GRCm39)	R434L	possibly damaging	Het
Trim68	T	C	7: 102,327,550 (GRCm39)	I468V	probably benign	Het
Ttn	C	A	2: 76,542,628 (GRCm39)	V33453F	probably benign	Het
Ubac1	A	T	2: 25,896,621 (GRCm39)	V298D	probably damaging	Het
Vmn1r185	C	A	7: 26,310,825 (GRCm39)	V227F	probably damaging	Het
Vmn1r21	T	A	6: 57,820,829 (GRCm39)	H205L	probably damaging	Het
Zbtb16	A	G	9: 48,743,857 (GRCm39)	Y152H	probably benign	Het
Zbtb20	A	T	16: 43,397,968 (GRCm39)	N19I	probably damaging	Het
Zfp438	A	G	18: 5,213,422 (GRCm39)	M512T	possibly 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
R8735:Exoc2	UTSW	13	31,090,822 (GRCm39)	missense	probably damaging	1.00
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'- ACTCTGCGATCTAAAGGAACTG -3'
(R):5'- GTACCACCATAGGTAGACAGCC -3'

Sequencing Primer
(F):5'- CTCTGCGATCTAAAGGAACTGAATAC -3'
(R):5'- GAATCCTTCTTCATAGGTCTT -3'

Posted On

2021-08-02