Mutagenetix > Incidental Mutation

Incidental Mutation 'R6726:Arfgef2'

529854

Institutional Source

Beutler Lab

Gene Symbol

Arfgef2

Ensembl Gene

ENSMUSG00000074582

Gene Name

ADP ribosylation factor guanine nucleotide exchange factor 2

Synonyms

BIG2, E230011G24Rik

MMRRC Submission

044844-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.381) question?

Stock #

R6726 (G1)

Quality Score

221.009

Status

Validated

Chromosome

Chromosomal Location

166647508-166739972 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 166735540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096677 (fasta)

Gene Model

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

AlphaFold

A2A5R2

Predicted Effect

probably null
Transcript: ENSMUST00000099078

SMART Domains

Protein: ENSMUSP00000096677
Gene: ENSMUSG00000074582

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

100% (41/41)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Arsk	T	C	13: 76,222,907 (GRCm39)	Y230C	probably damaging	Het
Atf7ip	G	A	6: 136,559,389 (GRCm39)	V737M	probably damaging	Het
Atp6v1e1	A	T	6: 120,781,011 (GRCm39)		probably null	Het
Bbs9	T	C	9: 22,557,260 (GRCm39)	V3A	probably benign	Het
Brap	T	C	5: 121,813,365 (GRCm39)	S243P	probably damaging	Het
Camkmt	T	A	17: 85,702,037 (GRCm39)	I167N	probably damaging	Het
Ckap2l	C	A	2: 129,111,114 (GRCm39)	E694D	probably damaging	Het
Crmp1	G	A	5: 37,441,408 (GRCm39)	V497I	probably benign	Het
Dbx2	A	G	15: 95,522,741 (GRCm39)	V322A	possibly damaging	Het
Dll1	C	A	17: 15,590,513 (GRCm39)	C401F	probably damaging	Het
Dock10	T	C	1: 80,490,147 (GRCm39)	T1991A	probably damaging	Het
Dock3	C	T	9: 107,036,651 (GRCm39)	W42*	probably null	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
Hdac1-ps	A	G	17: 78,800,287 (GRCm39)	E426G	probably damaging	Het
Insrr	C	T	3: 87,720,873 (GRCm39)	R1044C	probably damaging	Het
Irs2	T	C	8: 11,054,961 (GRCm39)	N1157S	possibly damaging	Het
Kndc1	T	C	7: 139,502,667 (GRCm39)		probably null	Het
Map3k19	T	C	1: 127,748,185 (GRCm39)	N1241S	probably benign	Het
Or9g4b	T	C	2: 85,615,906 (GRCm39)	F17S	possibly damaging	Het
Paqr5	C	T	9: 61,871,065 (GRCm39)	R171Q	probably damaging	Het
Pcdh17	T	A	14: 84,683,657 (GRCm39)	D41E	probably damaging	Het
Plg	T	G	17: 12,597,595 (GRCm39)	L14R	probably damaging	Het
Prkab1	A	G	5: 116,158,092 (GRCm39)	V168A	probably benign	Het
Prr35	G	C	17: 26,166,689 (GRCm39)	P283A	probably benign	Het
Ptdss1	C	T	13: 67,101,595 (GRCm39)	R95*	probably null	Het
Rab3gap2	T	G	1: 184,980,062 (GRCm39)	S327A	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Homo
Sdr42e2	T	C	7: 120,425,332 (GRCm39)	S308P	probably damaging	Het
Senp8	C	A	9: 59,644,473 (GRCm39)	V228L	probably benign	Het
Serpina10	A	T	12: 103,594,628 (GRCm39)	I197K	probably benign	Het
Serpinb6d	A	G	13: 33,854,718 (GRCm39)	N231S	probably benign	Het
Sez6l2	T	C	7: 126,567,177 (GRCm39)	V869A	probably damaging	Het
Sgo2b	T	A	8: 64,380,769 (GRCm39)	K688*	probably null	Het
Sh3kbp1	A	T	X: 158,624,176 (GRCm39)	E39D	probably benign	Homo
Ufsp2	T	C	8: 46,438,504 (GRCm39)	M194T	probably benign	Het
Ush2a	T	C	1: 188,485,881 (GRCm39)	I2997T	possibly damaging	Het
Vmn2r107	G	A	17: 20,595,637 (GRCm39)	G730D	probably damaging	Het
Wdr72	T	C	9: 74,059,822 (GRCm39)	Y411H	possibly damaging	Het
Xirp2	T	C	2: 67,343,212 (GRCm39)	S1818P	possibly damaging	Het

Other mutations in Arfgef2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Arfgef2	APN	2	166,727,773 (GRCm39)	missense	probably damaging	1.00
IGL01323:Arfgef2	APN	2	166,713,415 (GRCm39)	missense	probably damaging	1.00
IGL01415:Arfgef2	APN	2	166,709,275 (GRCm39)	missense	probably damaging	0.98
IGL01638:Arfgef2	APN	2	166,715,865 (GRCm39)	missense	probably damaging	0.97
IGL02618:Arfgef2	APN	2	166,695,233 (GRCm39)	missense	probably damaging	1.00
IGL02899:Arfgef2	APN	2	166,710,971 (GRCm39)	splice site	probably benign
IGL03012:Arfgef2	APN	2	166,710,808 (GRCm39)	splice site	probably benign
IGL03063:Arfgef2	APN	2	166,701,702 (GRCm39)	splice site	probably benign
migrainous	UTSW	2	166,676,383 (GRCm39)	frame shift	probably null
Scotomata	UTSW	2	166,693,199 (GRCm39)	critical splice donor site	probably null
shimmering	UTSW	2	166,668,848 (GRCm39)	missense	probably benign
R0102:Arfgef2	UTSW	2	166,687,385 (GRCm39)	missense	probably benign	0.00
R0102:Arfgef2	UTSW	2	166,687,385 (GRCm39)	missense	probably benign	0.00
R0116:Arfgef2	UTSW	2	166,715,603 (GRCm39)	missense	probably damaging	1.00
R0128:Arfgef2	UTSW	2	166,677,639 (GRCm39)	missense	probably damaging	1.00
R0130:Arfgef2	UTSW	2	166,677,639 (GRCm39)	missense	probably damaging	1.00
R0208:Arfgef2	UTSW	2	166,709,342 (GRCm39)	missense	probably damaging	1.00
R0379:Arfgef2	UTSW	2	166,702,320 (GRCm39)	critical splice donor site	probably null
R0945:Arfgef2	UTSW	2	166,668,889 (GRCm39)	unclassified	probably benign
R1226:Arfgef2	UTSW	2	166,669,560 (GRCm39)	missense	probably damaging	1.00
R1252:Arfgef2	UTSW	2	166,701,877 (GRCm39)	missense	probably damaging	1.00
R1695:Arfgef2	UTSW	2	166,706,632 (GRCm39)	missense	probably damaging	0.98
R1696:Arfgef2	UTSW	2	166,703,558 (GRCm39)	missense	probably damaging	1.00
R1742:Arfgef2	UTSW	2	166,708,900 (GRCm39)	missense	probably damaging	1.00
R1935:Arfgef2	UTSW	2	166,705,523 (GRCm39)	missense	probably benign	0.28
R1936:Arfgef2	UTSW	2	166,705,523 (GRCm39)	missense	probably benign	0.28
R1939:Arfgef2	UTSW	2	166,715,548 (GRCm39)	missense	probably damaging	1.00
R2276:Arfgef2	UTSW	2	166,707,679 (GRCm39)	missense	probably benign	0.00
R2279:Arfgef2	UTSW	2	166,707,679 (GRCm39)	missense	probably benign	0.00
R2349:Arfgef2	UTSW	2	166,693,948 (GRCm39)	missense	probably damaging	1.00
R2359:Arfgef2	UTSW	2	166,702,539 (GRCm39)	missense	probably damaging	1.00
R2414:Arfgef2	UTSW	2	166,687,424 (GRCm39)	missense	probably benign	0.00
R2519:Arfgef2	UTSW	2	166,723,164 (GRCm39)	missense	probably benign	0.03
R2938:Arfgef2	UTSW	2	166,736,653 (GRCm39)	missense	probably damaging	1.00
R3696:Arfgef2	UTSW	2	166,695,220 (GRCm39)	nonsense	probably null
R4022:Arfgef2	UTSW	2	166,715,865 (GRCm39)	missense	probably benign	0.01
R4227:Arfgef2	UTSW	2	166,709,244 (GRCm39)	missense	probably damaging	1.00
R4293:Arfgef2	UTSW	2	166,732,211 (GRCm39)	missense	probably benign
R4455:Arfgef2	UTSW	2	166,736,635 (GRCm39)	missense	probably benign	0.43
R4499:Arfgef2	UTSW	2	166,727,734 (GRCm39)	missense	probably damaging	0.99
R4570:Arfgef2	UTSW	2	166,698,458 (GRCm39)	missense	probably damaging	0.99
R4888:Arfgef2	UTSW	2	166,677,533 (GRCm39)	missense	probably damaging	1.00
R4893:Arfgef2	UTSW	2	166,708,876 (GRCm39)	missense	probably benign
R5032:Arfgef2	UTSW	2	166,720,464 (GRCm39)	missense	probably benign
R5191:Arfgef2	UTSW	2	166,718,431 (GRCm39)	missense	probably damaging	1.00
R5200:Arfgef2	UTSW	2	166,702,604 (GRCm39)	missense	probably benign	0.00
R5318:Arfgef2	UTSW	2	166,715,891 (GRCm39)	missense	probably damaging	1.00
R5378:Arfgef2	UTSW	2	166,715,548 (GRCm39)	missense	probably damaging	1.00
R5537:Arfgef2	UTSW	2	166,698,513 (GRCm39)	splice site	probably null
R5866:Arfgef2	UTSW	2	166,678,177 (GRCm39)	missense	possibly damaging	0.88
R5878:Arfgef2	UTSW	2	166,712,137 (GRCm39)	missense	probably benign	0.41
R5972:Arfgef2	UTSW	2	166,733,756 (GRCm39)	missense	probably damaging	1.00
R6147:Arfgef2	UTSW	2	166,713,415 (GRCm39)	missense	probably damaging	1.00
R6293:Arfgef2	UTSW	2	166,715,508 (GRCm39)	missense	possibly damaging	0.92
R6323:Arfgef2	UTSW	2	166,676,404 (GRCm39)	missense	probably damaging	1.00
R6338:Arfgef2	UTSW	2	166,687,490 (GRCm39)	missense	probably damaging	1.00
R6538:Arfgef2	UTSW	2	166,735,541 (GRCm39)	splice site	probably null
R7047:Arfgef2	UTSW	2	166,693,865 (GRCm39)	splice site	probably null
R7086:Arfgef2	UTSW	2	166,718,536 (GRCm39)	missense	probably damaging	1.00
R7108:Arfgef2	UTSW	2	166,715,528 (GRCm39)	missense	possibly damaging	0.80
R7155:Arfgef2	UTSW	2	166,707,733 (GRCm39)	missense	probably benign	0.19
R7159:Arfgef2	UTSW	2	166,668,848 (GRCm39)	missense	probably benign
R7482:Arfgef2	UTSW	2	166,693,199 (GRCm39)	critical splice donor site	probably null
R7598:Arfgef2	UTSW	2	166,698,444 (GRCm39)	missense	probably benign
R7869:Arfgef2	UTSW	2	166,715,623 (GRCm39)	missense	probably damaging	1.00
R8003:Arfgef2	UTSW	2	166,695,208 (GRCm39)	missense	probably damaging	1.00
R8092:Arfgef2	UTSW	2	166,701,754 (GRCm39)	missense	probably damaging	1.00
R8093:Arfgef2	UTSW	2	166,736,577 (GRCm39)	missense	probably benign	0.02
R8110:Arfgef2	UTSW	2	166,720,464 (GRCm39)	missense	probably benign	0.01
R8130:Arfgef2	UTSW	2	166,678,170 (GRCm39)	missense	possibly damaging	0.81
R8153:Arfgef2	UTSW	2	166,676,383 (GRCm39)	frame shift	probably null
R8156:Arfgef2	UTSW	2	166,676,383 (GRCm39)	frame shift	probably null
R8411:Arfgef2	UTSW	2	166,715,903 (GRCm39)	missense	probably benign	0.15
R8418:Arfgef2	UTSW	2	166,698,468 (GRCm39)	missense	probably benign	0.19
R8738:Arfgef2	UTSW	2	166,708,867 (GRCm39)	missense	probably benign	0.00
R8826:Arfgef2	UTSW	2	166,677,386 (GRCm39)	intron	probably benign
R8967:Arfgef2	UTSW	2	166,677,662 (GRCm39)	missense	probably damaging	1.00
R8971:Arfgef2	UTSW	2	166,701,221 (GRCm39)	missense	probably damaging	1.00
R8972:Arfgef2	UTSW	2	166,709,253 (GRCm39)	missense	possibly damaging	0.67
R9010:Arfgef2	UTSW	2	166,701,284 (GRCm39)	missense	probably damaging	1.00
R9077:Arfgef2	UTSW	2	166,706,721 (GRCm39)	missense	probably damaging	1.00
R9249:Arfgef2	UTSW	2	166,733,690 (GRCm39)	missense	probably damaging	1.00
R9306:Arfgef2	UTSW	2	166,723,188 (GRCm39)	missense	probably benign	0.02
R9394:Arfgef2	UTSW	2	166,676,469 (GRCm39)	missense	probably benign	0.13
R9776:Arfgef2	UTSW	2	166,713,447 (GRCm39)	missense	probably damaging	1.00
X0040:Arfgef2	UTSW	2	166,701,803 (GRCm39)	missense	probably damaging	1.00
X0063:Arfgef2	UTSW	2	166,733,761 (GRCm39)	missense	probably benign	0.32
Z1088:Arfgef2	UTSW	2	166,735,515 (GRCm39)	missense	possibly damaging	0.78
Z1176:Arfgef2	UTSW	2	166,736,632 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCTGAAGGAATCTGGCTG -3'
(R):5'- GGTCAGTCCTATCCCAACAG -3'

Sequencing Primer
(F):5'- TGAAGGAATCTGGCTGTCCCC -3'
(R):5'- GGTACACACGCCATCCCTTC -3'

Posted On

2018-08-01