Mutagenetix > Incidental Mutation

Incidental Mutation 'R7155:Arfgef2'

557195

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

045226-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

R7155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

166805588-166898052 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 166865813 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1043 (M1043K)

Ref Sequence

ENSEMBL: ENSMUSP00000096677 (fasta)

Gene Model

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

AlphaFold

A2A5R2

Predicted Effect

probably benign
Transcript: ENSMUST00000099078
AA Change: M1043K

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096677
Gene: ENSMUSG00000074582
AA Change: M1043K

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: 98.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,473,569	L63P	possibly damaging	Het
Abca13	A	T	11: 9,529,010	Y4286F	probably benign	Het
Aldh5a1	A	C	13: 24,911,589	V515G	possibly damaging	Het
Ankrd42	T	C	7: 92,591,933	E406G	possibly damaging	Het
Arhgef11	T	A	3: 87,709,572	Y383*	probably null	Het
Aste1	C	T	9: 105,405,136	P614L	probably damaging	Het
B3galt5	T	A	16: 96,315,805	S213T	probably damaging	Het
Bak1	A	G	17: 27,022,460	L108P	possibly damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Bdp1	T	G	13: 100,061,151	T909P	possibly damaging	Het
Cacna1i	A	G	15: 80,395,238	H2060R	probably benign	Het
Cdhr3	G	T	12: 33,061,773	P246Q	probably damaging	Het
Colgalt1	T	C	8: 71,623,710	S602P	probably damaging	Het
Csde1	T	C	3: 103,039,953	S74P	probably damaging	Het
Cyp51	A	T	5: 4,087,846	C366S	possibly damaging	Het
Dcaf7	A	G	11: 106,037,190	N23D	probably damaging	Het
Ddx10	G	A	9: 53,117,288	A772V	probably benign	Het
Ddx4	A	G	13: 112,613,785	F404S	probably benign	Het
Dirc2	G	T	16: 35,735,577	T171K	probably benign	Het
Dlg4	T	A	11: 70,017,216	M1K	probably null	Het
Dnajc6	T	C	4: 101,612,945	V293A	probably damaging	Het
Etl4	G	T	2: 20,806,931	R1643L	probably damaging	Het
F13b	G	A	1: 139,508,157	E234K	probably damaging	Het
Fam171a1	T	C	2: 3,225,729	I633T	probably benign	Het
Frem3	A	G	8: 80,616,039	I1654V	probably benign	Het
Galr2	A	G	11: 116,283,582	E346G	possibly damaging	Het
Gck	G	A	11: 5,949,705		probably benign	Het
Gen1	G	T	12: 11,241,832	T717K	probably benign	Het
Gm13083	A	T	4: 143,616,165	I281F	probably benign	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,480,188		probably benign	Het
Hat1	A	G	2: 71,421,251	T215A	possibly damaging	Het
Hmbox1	A	T	14: 64,897,037	M38K	probably damaging	Het
Ifi47	A	G	11: 49,096,542	K379E	probably benign	Het
Ift81	T	C	5: 122,568,999	Y460C	probably damaging	Het
Jarid2	T	A	13: 44,902,462	S381R	probably damaging	Het
Kmt2b	A	T	7: 30,579,963	V1458E	probably damaging	Het
Kpna4	G	T	3: 69,089,933	P336Q	probably damaging	Het
Krt84	T	C	15: 101,532,254	R168G	probably damaging	Het
Lhx8	T	A	3: 154,324,584	Y137F	possibly damaging	Het
Lin7b	T	C	7: 45,370,227	E19G	probably damaging	Het
Lrmda	A	T	14: 22,584,540	R131S	probably damaging	Het
Lrrc75b	C	T	10: 75,553,678	A280T	possibly damaging	Het
Megf11	G	A	9: 64,647,951	R268K	probably null	Het
Mgat4e	G	T	1: 134,541,959	Q116K	probably damaging	Het
Mlkl	A	G	8: 111,319,403	L325P	probably damaging	Het
Mup2	A	G	4: 60,137,641	L134P	probably damaging	Het
Myo19	A	G	11: 84,900,586	E489G	probably damaging	Het
Ncbp3	C	A	11: 73,048,009	P37Q	probably damaging	Het
Nf2	A	G	11: 4,799,964	V236A	probably damaging	Het
Nlrp1a	A	T	11: 71,124,079	M115K	possibly damaging	Het
Nsf	T	A	11: 103,828,530	K649*	probably null	Het
Olfml2b	A	T	1: 170,666,785	I313L	probably benign	Het
Olfr316	T	A	11: 58,758,283	I206N	probably damaging	Het
Olfr654	T	A	7: 104,588,557	V251D	possibly damaging	Het
Papln	T	A	12: 83,776,521	L444Q	probably damaging	Het
Phc3	T	C	3: 30,914,197	I897V	probably benign	Het
Plcg1	T	C	2: 160,754,380	L632P	probably damaging	Het
Prkg1	T	C	19: 31,302,301	T178A	probably damaging	Het
Ptges	T	A	2: 30,892,804	T79S	probably benign	Het
Rab26	T	C	17: 24,532,289	T81A	probably damaging	Het
Rai14	T	A	15: 10,595,003	I145L	possibly damaging	Het
Rasgrf1	A	G	9: 90,002,361	T960A	possibly damaging	Het
Rfx1	A	T	8: 84,094,826	I755F	probably damaging	Het
Rims1	T	G	1: 22,432,923	L670F	probably damaging	Het
Rtkn	G	A	6: 83,149,711	C297Y	probably damaging	Het
Sec23a	A	T	12: 58,989,443	N378K	probably benign	Het
Slc17a2	A	G	13: 23,822,407	E472G	probably benign	Het
Slc1a2	T	C	2: 102,766,995	M449T	probably damaging	Het
Slc22a3	G	A	17: 12,433,631	L369F	possibly damaging	Het
Smad6	G	T	9: 64,021,787	D82E	unknown	Het
Smgc	A	T	15: 91,852,608	I463F	possibly damaging	Het
Strada	C	A	11: 106,171,039	G166C	probably damaging	Het
Tcaf3	A	G	6: 42,593,891	V309A	probably benign	Het
Tet2	C	T	3: 133,469,591	E1332K	possibly damaging	Het
Tfcp2l1	A	G	1: 118,668,632	N366D	probably damaging	Het
Tll2	G	A	19: 41,117,284	P369L	possibly damaging	Het
Tox4	T	C	14: 52,292,097	V505A	probably benign	Het
Trbv4	A	G	6: 41,059,853	D104G	probably damaging	Het
Ugdh	T	C	5: 65,417,037	E416G	probably damaging	Het
Usp47	T	A	7: 112,087,013	C613S	probably damaging	Het
Vmn1r11	T	A	6: 57,138,162	N270K	probably benign	Het
Wsb2	T	A	5: 117,371,095	L147Q	probably damaging	Het
Xrn1	G	A	9: 95,979,145	A453T	possibly damaging	Het
Zan	A	G	5: 137,461,844	S1262P	unknown	Het
Zswim4	A	G	8: 84,219,927	L700P	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
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
R8411:Arfgef2	UTSW	2	166873983	missense	probably benign	0.15
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'- ATTGCAGCATCCTTTCTGGC -3'
(R):5'- CCTTCAACTCACAGCAGAGG -3'

Sequencing Primer
(F):5'- GGCACTCCACGTCTCAC -3'
(R):5'- AGGACAGTGAAGCCCCTACTG -3'

Posted On

2019-06-26