Mutagenetix > Incidental Mutation

Incidental Mutation 'R8716:Exoc2'

669903

Institutional Source

Beutler Lab

Gene Symbol

Exoc2

Ensembl Gene

ENSMUSG00000021357

Gene Name

exocyst complex component 2

Synonyms

2410030I24Rik, Sec5l1, Sec5, Gm29675

MMRRC Submission

068569-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R8716 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30972939-31162082 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31095227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 223 (H223L)

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: H223L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021785
Gene: ENSMUSG00000021357
AA Change: H223L

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: H223L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100010
Gene: ENSMUSG00000021357
AA Change: H223L

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: 99.9%
20x: 99.5%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,243,774 (GRCm39)	Y1879C	probably benign	Het
Abce1	A	T	8: 80,427,784 (GRCm39)	I168N	possibly damaging	Het
Acan	G	A	7: 78,762,438 (GRCm39)	R2004H	probably damaging	Het
Acsm4	T	A	7: 119,307,883 (GRCm39)	L340Q	probably damaging	Het
Actmap	C	A	7: 26,896,631 (GRCm39)	P65T	probably damaging	Het
Adamts2	T	A	11: 50,664,091 (GRCm39)	N342K	probably damaging	Het
Adgrd1	A	T	5: 129,265,435 (GRCm39)	D725V	possibly damaging	Het
Ahnak	T	A	19: 8,986,438 (GRCm39)	L2574Q	probably damaging	Het
Ank2	A	T	3: 126,736,488 (GRCm39)	L3132*	probably null	Het
Ap3b2	T	G	7: 81,126,901 (GRCm39)	E283A	probably benign	Het
Asb17	A	T	3: 153,559,151 (GRCm39)	L287F	probably damaging	Het
Atr	T	G	9: 95,789,468 (GRCm39)	N1541K	probably benign	Het
Bcas3	G	A	11: 85,471,868 (GRCm39)	V711I	probably damaging	Het
Ccdc82	T	G	9: 13,252,922 (GRCm39)	Y262*	probably null	Het
Cd209d	CAT	C	8: 3,923,772 (GRCm39)		probably null	Het
Cdc23	GAGACTACCGAAGA	GAGA	18: 34,784,735 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,800,494 (GRCm39)	L1571F	probably benign	Het
Clca3b	C	T	3: 144,550,355 (GRCm39)	V197I	probably benign	Het
Cul9	T	C	17: 46,838,840 (GRCm39)	S932G	probably benign	Het
Cyp3a59	T	A	5: 146,033,411 (GRCm39)	D182E	probably damaging	Het
Ddx19a	T	C	8: 111,710,243 (GRCm39)	E119G	probably damaging	Het
Dnah1	A	G	14: 30,989,941 (GRCm39)		probably benign	Het
Dop1b	T	A	16: 93,577,673 (GRCm39)	L1761*	probably null	Het
Ehd2	A	G	7: 15,698,106 (GRCm39)	S44P	probably benign	Het
Fam217a	G	A	13: 35,108,248 (GRCm39)		probably benign	Het
Farp1	A	G	14: 121,479,855 (GRCm39)	N382S	probably benign	Het
Gbf1	T	A	19: 46,272,460 (GRCm39)	L1633Q	probably damaging	Het
Gpn1	C	T	5: 31,656,642 (GRCm39)	T115I	probably benign	Het
Gstcd	T	C	3: 132,688,950 (GRCm39)	D600G	probably damaging	Het
Ighv16-1	A	C	12: 114,032,616 (GRCm39)	M62R	probably benign	Het
Igsf3	T	G	3: 101,334,739 (GRCm39)	V272G	probably damaging	Het
Itgb2	T	C	10: 77,393,787 (GRCm39)	V409A	probably damaging	Het
Kcnh8	C	T	17: 53,284,780 (GRCm39)	P917S	probably benign	Het
Kif23	T	C	9: 61,844,477 (GRCm39)	T114A	probably damaging	Het
Krt35	A	G	11: 99,987,011 (GRCm39)	M1T	probably null	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lonp2	T	C	8: 87,442,933 (GRCm39)	I798T	probably benign	Het
Lrp2	T	A	2: 69,274,138 (GRCm39)	T3971S	probably benign	Het
LTO1	G	T	7: 144,468,930 (GRCm39)		probably benign	Het
Mcc	C	A	18: 44,582,403 (GRCm39)	V758F	possibly damaging	Het
Naip2	C	T	13: 100,280,914 (GRCm39)	V1433I	probably benign	Het
Ndfip1	T	C	18: 38,585,384 (GRCm39)	F133L	probably damaging	Het
Nlrc4	T	A	17: 74,752,985 (GRCm39)	E466V	probably damaging	Het
Nwd1	A	G	8: 73,388,908 (GRCm39)	D112G	probably damaging	Het
Opn4	G	T	14: 34,315,819 (GRCm39)	R405S	probably benign	Het
Or10q12	T	C	19: 13,746,185 (GRCm39)	S160P	probably damaging	Het
Or2i1	C	T	17: 37,508,299 (GRCm39)	V112M	possibly damaging	Het
Or4c110	T	C	2: 88,832,060 (GRCm39)	T191A		Het
Or7e168	C	T	9: 19,720,165 (GRCm39)	L184F	probably damaging	Het
Pde11a	T	A	2: 75,848,238 (GRCm39)	D863V	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekhf1	A	T	7: 37,921,322 (GRCm39)	L82Q	probably damaging	Het
Pou4f3	G	T	18: 42,528,593 (GRCm39)	D179Y	possibly damaging	Het
Ppp1r12a	G	A	10: 108,096,749 (GRCm39)	R713H	probably damaging	Het
Psg17	C	A	7: 18,555,310 (GRCm39)	G11W	probably benign	Het
Ptprh	A	T	7: 4,567,273 (GRCm39)	V533D	probably damaging	Het
Ptprn2	A	G	12: 117,219,168 (GRCm39)	D933G	possibly damaging	Het
Rab7	T	C	6: 87,989,369 (GRCm39)	S34G	probably damaging	Het
Rfx6	A	C	10: 51,557,968 (GRCm39)	H147P	probably damaging	Het
Rprd2	T	C	3: 95,684,105 (GRCm39)	Y310C	probably damaging	Het
Samd11	A	G	4: 156,333,727 (GRCm39)	F201S	probably benign	Het
Sox7	A	G	14: 64,186,037 (GRCm39)	T358A	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tie1	G	A	4: 118,339,935 (GRCm39)	T364M	possibly damaging	Het
Ttn	C	A	2: 76,597,266 (GRCm39)	L19882F	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ubr4	T	C	4: 139,196,164 (GRCm39)	W1267R	unknown	Het
Usp42	G	A	5: 143,703,696 (GRCm39)	P456S	probably damaging	Het
Vmn1r235	T	C	17: 21,482,554 (GRCm39)	V293A	possibly damaging	Het
Vmn2r90	T	A	17: 17,924,343 (GRCm39)	H47Q	probably damaging	Het
Vps13d	T	A	4: 144,802,348 (GRCm39)	T3503S		Het
Vwa5b2	T	A	16: 20,415,026 (GRCm39)	N349K	probably benign	Het
Zeb1	A	T	18: 5,767,958 (GRCm39)	Y823F	probably damaging	Het
Zfp273	T	A	13: 67,974,053 (GRCm39)	C394S	probably damaging	Het
Zfp286	G	T	11: 62,671,817 (GRCm39)	A147D	unknown	Het
Zfp831	A	G	2: 174,547,049 (GRCm39)	T1411A	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
R8735:Exoc2	UTSW	13	31,090,822 (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'- AGTCGTTACCAAGCCCTTGC -3'
(R):5'- AAGACCAGATGAGTGTGTCTGTTG -3'

Sequencing Primer
(F):5'- CCTTGCCCTGGGAAATCC -3'
(R):5'- ACCAGATGAGTGTGTCTGTTGTATAC -3'

Posted On

2021-04-30