Mutagenetix > Incidental Mutation

Incidental Mutation 'R8411:Arfgef2'

652659

Institutional Source

Beutler Lab

Gene Symbol

Arfgef2

Ensembl Gene

ENSMUSG00000074582

Gene Name

ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)

Synonyms

E230011G24Rik, BIG2

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.285) question?

Stock #

R8411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

166805588-166898052 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 166873983 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 1397 (Q1397H)

Ref Sequence

ENSEMBL: ENSMUSP00000096677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099078]

AlphaFold

A2A5R2

Predicted Effect

probably benign
Transcript: ENSMUST00000099078
AA Change: Q1397H

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096677
Gene: ENSMUSG00000074582
AA Change: Q1397H

Domain	Start	End	E-Value	Type
Pfam:DCB	7	200	1.6e-40	PFAM
Pfam:Sec7_N	377	536	3.7e-53	PFAM
Blast:Sec7	549	598	8e-18	BLAST
low complexity region	621	633	N/A	INTRINSIC
Sec7	647	834	1.55e-97	SMART
Blast:Sec7	853	888	2e-11	BLAST
Blast:Sec7	902	941	4e-15	BLAST
low complexity region	1044	1055	N/A	INTRINSIC
Pfam:DUF1981	1174	1257	6e-38	PFAM
low complexity region	1719	1729	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit exencephaly, midline gut closure defects, periventricular and subependymal heterotopia, and impaired neuronal migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,137,722	S89P	probably benign	Het
Aatf	A	T	11: 84,470,676	M367K	probably benign	Het
Adam18	A	T	8: 24,652,127	I211N	probably damaging	Het
Angpt1	T	C	15: 42,427,034	Y478C	probably damaging	Het
Apba2	A	T	7: 64,736,926	I434F	probably damaging	Het
Arfgef1	T	A	1: 10,216,534	K50N	probably benign	Het
Ascc2	G	A	11: 4,647,208	R129Q	probably damaging	Het
Atxn1	A	G	13: 45,566,556	V621A	probably benign	Het
Catsperz	A	T	19: 6,922,562	L192M	probably benign	Het
Cd5	G	A	19: 10,720,221	P465S	probably damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Cfap61	A	G	2: 145,947,183	E94G	probably benign	Het
Chd1	A	G	17: 15,762,449	H1392R	probably damaging	Het
Csnk1a1	A	G	18: 61,555,817	I23V	probably benign	Het
Ctnnd2	C	T	15: 30,647,033	R292C	probably benign	Het
Dcaf6	T	A	1: 165,388,675	H453L	probably benign	Het
Dnah3	C	A	7: 120,011,030	D1728Y	probably damaging	Het
Dtx3	T	C	10: 127,192,824	K179E	possibly damaging	Het
Fam3b	T	A	16: 97,481,853	Y74F	probably benign	Het
Gm5464	T	C	14: 66,869,106	L64P	unknown	Het
Gm5624	T	G	14: 44,561,890	N70T		Het
Kcnh7	T	A	2: 62,764,608	H706L	probably damaging	Het
Kdm2b	C	T	5: 122,880,176	R1067H	probably damaging	Het
Klhl28	A	T	12: 64,950,090	H492Q	probably damaging	Het
Loxl3	T	A	6: 83,050,624	C716S	probably damaging	Het
Ltbp2	A	G	12: 84,786,413	Y1474H	probably damaging	Het
Mcm3	C	T	1: 20,816,756	V142I	probably benign	Het
Mmp24	G	T	2: 155,814,015	V458L	probably benign	Het
Mpl	C	A	4: 118,446,109	S502I		Het
Nfatc1	A	T	18: 80,667,042	V503D	probably damaging	Het
Nim1k	A	G	13: 119,714,271	I133T	possibly damaging	Het
Nr1d2	T	C	14: 18,215,031	Y327C	probably damaging	Het
Olfr1214	T	C	2: 88,988,065	T46A	probably benign	Het
Oma1	C	T	4: 103,328,916	R360*	probably null	Het
Oog2	T	A	4: 144,194,173	W59R	probably damaging	Het
Pcdh10	A	G	3: 45,379,539	E96G	probably damaging	Het
Pcna	T	A	2: 132,251,930	T98S	probably benign	Het
Pcnx3	C	T	19: 5,679,590	C899Y	possibly damaging	Het
Phf11d	T	C	14: 59,356,434	N97S	probably benign	Het
Plekhg4	G	A	8: 105,377,329	W431*	probably null	Het
Plk4	A	G	3: 40,813,466	T815A	probably benign	Het
Pnma2	C	T	14: 66,916,313	T62I	possibly damaging	Het
Ppp1r9a	C	T	6: 5,057,568	R548W	probably damaging	Het
Ptx3	A	G	3: 66,224,780	S241G	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rplp0	A	T	5: 115,560,764	K26N	probably damaging	Het
Sec62	A	C	3: 30,818,782	E338A	unknown	Het
Sema6a	T	C	18: 47,248,955	M842V	probably benign	Het
Serpina3j	T	C	12: 104,314,784	V72A	probably benign	Het
Siglecf	T	C	7: 43,351,944	F112S	probably damaging	Het
Slc29a4	A	G	5: 142,720,125	N455D	probably damaging	Het
Slc6a11	T	A	6: 114,131,437	F54Y	probably benign	Het
Spag6	G	A	2: 18,710,583	V80M	probably damaging	Het
Spic	T	C	10: 88,678,636	E34G	possibly damaging	Het
Tecpr2	A	G	12: 110,931,720	K469E	possibly damaging	Het
Them7	T	A	2: 105,297,845	L57Q	probably benign	Het
Tlr3	G	A	8: 45,396,941	A897V	probably damaging	Het
Tnp2	A	G	16: 10,788,508	C32R	possibly damaging	Het
Trpm6	A	T	19: 18,853,968	Q1399L	probably benign	Het
Ttn	C	A	2: 76,846,671	E11074*	probably null	Het
Ubash3b	G	A	9: 41,043,485	A243V	probably benign	Het
Vash1	G	A	12: 86,680,178	R64Q	possibly damaging	Het
Vmn1r167	T	A	7: 23,505,556	M12L	possibly damaging	Het
Vmn2r111	T	A	17: 22,548,581	H645L	probably benign	Het
Vmn2r75	A	T	7: 86,148,514	I697K	probably damaging	Het
Vmn2r87	A	G	10: 130,472,257	I704T	probably damaging	Het

Other mutations in Arfgef2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Arfgef2	APN	2	166885853	missense	probably damaging	1.00
IGL01323:Arfgef2	APN	2	166871495	missense	probably damaging	1.00
IGL01415:Arfgef2	APN	2	166867355	missense	probably damaging	0.98
IGL01638:Arfgef2	APN	2	166873945	missense	probably damaging	0.97
IGL02618:Arfgef2	APN	2	166853313	missense	probably damaging	1.00
IGL02899:Arfgef2	APN	2	166869051	splice site	probably benign
IGL03012:Arfgef2	APN	2	166868888	splice site	probably benign
IGL03063:Arfgef2	APN	2	166859782	splice site	probably benign
migrainous	UTSW	2	166834463	frame shift	probably null
Scotomata	UTSW	2	166851279	critical splice donor site	probably null
shimmering	UTSW	2	166826928	missense	probably benign
R0102:Arfgef2	UTSW	2	166845465	missense	probably benign	0.00
R0102:Arfgef2	UTSW	2	166845465	missense	probably benign	0.00
R0116:Arfgef2	UTSW	2	166873683	missense	probably damaging	1.00
R0128:Arfgef2	UTSW	2	166835719	missense	probably damaging	1.00
R0130:Arfgef2	UTSW	2	166835719	missense	probably damaging	1.00
R0208:Arfgef2	UTSW	2	166867422	missense	probably damaging	1.00
R0379:Arfgef2	UTSW	2	166860400	critical splice donor site	probably null
R0945:Arfgef2	UTSW	2	166826969	unclassified	probably benign
R1226:Arfgef2	UTSW	2	166827640	missense	probably damaging	1.00
R1252:Arfgef2	UTSW	2	166859957	missense	probably damaging	1.00
R1695:Arfgef2	UTSW	2	166864712	missense	probably damaging	0.98
R1696:Arfgef2	UTSW	2	166861638	missense	probably damaging	1.00
R1742:Arfgef2	UTSW	2	166866980	missense	probably damaging	1.00
R1935:Arfgef2	UTSW	2	166863603	missense	probably benign	0.28
R1936:Arfgef2	UTSW	2	166863603	missense	probably benign	0.28
R1939:Arfgef2	UTSW	2	166873628	missense	probably damaging	1.00
R2276:Arfgef2	UTSW	2	166865759	missense	probably benign	0.00
R2279:Arfgef2	UTSW	2	166865759	missense	probably benign	0.00
R2349:Arfgef2	UTSW	2	166852028	missense	probably damaging	1.00
R2359:Arfgef2	UTSW	2	166860619	missense	probably damaging	1.00
R2414:Arfgef2	UTSW	2	166845504	missense	probably benign	0.00
R2519:Arfgef2	UTSW	2	166881244	missense	probably benign	0.03
R2938:Arfgef2	UTSW	2	166894733	missense	probably damaging	1.00
R3696:Arfgef2	UTSW	2	166853300	nonsense	probably null
R4022:Arfgef2	UTSW	2	166873945	missense	probably benign	0.01
R4227:Arfgef2	UTSW	2	166867324	missense	probably damaging	1.00
R4293:Arfgef2	UTSW	2	166890291	missense	probably benign
R4455:Arfgef2	UTSW	2	166894715	missense	probably benign	0.43
R4499:Arfgef2	UTSW	2	166885814	missense	probably damaging	0.99
R4570:Arfgef2	UTSW	2	166856538	missense	probably damaging	0.99
R4888:Arfgef2	UTSW	2	166835613	missense	probably damaging	1.00
R4893:Arfgef2	UTSW	2	166866956	missense	probably benign
R5032:Arfgef2	UTSW	2	166878544	missense	probably benign
R5191:Arfgef2	UTSW	2	166876511	missense	probably damaging	1.00
R5200:Arfgef2	UTSW	2	166860684	missense	probably benign	0.00
R5318:Arfgef2	UTSW	2	166873971	missense	probably damaging	1.00
R5378:Arfgef2	UTSW	2	166873628	missense	probably damaging	1.00
R5537:Arfgef2	UTSW	2	166856593	splice site	probably null
R5866:Arfgef2	UTSW	2	166836257	missense	possibly damaging	0.88
R5878:Arfgef2	UTSW	2	166870217	missense	probably benign	0.41
R5972:Arfgef2	UTSW	2	166891836	missense	probably damaging	1.00
R6147:Arfgef2	UTSW	2	166871495	missense	probably damaging	1.00
R6293:Arfgef2	UTSW	2	166873588	missense	possibly damaging	0.92
R6323:Arfgef2	UTSW	2	166834484	missense	probably damaging	1.00
R6338:Arfgef2	UTSW	2	166845570	missense	probably damaging	1.00
R6538:Arfgef2	UTSW	2	166893621	splice site	probably null
R6726:Arfgef2	UTSW	2	166893620	critical splice donor site	probably null
R7047:Arfgef2	UTSW	2	166851945	splice site	probably null
R7086:Arfgef2	UTSW	2	166876616	missense	probably damaging	1.00
R7108:Arfgef2	UTSW	2	166873608	missense	possibly damaging	0.80
R7155:Arfgef2	UTSW	2	166865813	missense	probably benign	0.19
R7159:Arfgef2	UTSW	2	166826928	missense	probably benign
R7482:Arfgef2	UTSW	2	166851279	critical splice donor site	probably null
R7598:Arfgef2	UTSW	2	166856524	missense	probably benign
R7869:Arfgef2	UTSW	2	166873703	missense	probably damaging	1.00
R8003:Arfgef2	UTSW	2	166853288	missense	probably damaging	1.00
R8092:Arfgef2	UTSW	2	166859834	missense	probably damaging	1.00
R8093:Arfgef2	UTSW	2	166894657	missense	probably benign	0.02
R8110:Arfgef2	UTSW	2	166878544	missense	probably benign	0.01
R8130:Arfgef2	UTSW	2	166836250	missense	possibly damaging	0.81
R8153:Arfgef2	UTSW	2	166834463	frame shift	probably null
R8156:Arfgef2	UTSW	2	166834463	frame shift	probably null
R8418:Arfgef2	UTSW	2	166856548	missense	probably benign	0.19
R8738:Arfgef2	UTSW	2	166866947	missense	probably benign	0.00
R8826:Arfgef2	UTSW	2	166835466	intron	probably benign
R8967:Arfgef2	UTSW	2	166835742	missense	probably damaging	1.00
R8971:Arfgef2	UTSW	2	166859301	missense	probably damaging	1.00
R8972:Arfgef2	UTSW	2	166867333	missense	possibly damaging	0.67
R9010:Arfgef2	UTSW	2	166859364	missense	probably damaging	1.00
R9077:Arfgef2	UTSW	2	166864801	missense	probably damaging	1.00
R9249:Arfgef2	UTSW	2	166891770	missense	probably damaging	1.00
R9306:Arfgef2	UTSW	2	166881268	missense	probably benign	0.02
R9394:Arfgef2	UTSW	2	166834549	missense	probably benign	0.13
R9776:Arfgef2	UTSW	2	166871527	missense	probably damaging	1.00
X0040:Arfgef2	UTSW	2	166859883	missense	probably damaging	1.00
X0063:Arfgef2	UTSW	2	166891841	missense	probably benign	0.32
Z1088:Arfgef2	UTSW	2	166893595	missense	possibly damaging	0.78
Z1176:Arfgef2	UTSW	2	166894712	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATGAGTCGCTTCTTACCCC -3'
(R):5'- ACTGGTCTAAGATGGTCAGTGC -3'

Sequencing Primer
(F):5'- GCCTCCATCTCAGTTTGGC -3'
(R):5'- CAGTGCTTCTGTCCACTTGTAGAAG -3'

Posted On

2020-10-20