Mutagenetix > Incidental Mutations

Incidental Mutation 'R7159:Arfgef2'

557485

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

Is this an essential gene?

Possibly non essential (E-score: 0.369) question?

Stock #

R7159 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

166805588-166898052 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 166826928 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 41 (D41E)

Ref Sequence

ENSEMBL: ENSMUSP00000096677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099078] [ENSMUST00000144847]

Predicted Effect

probably benign
Transcript: ENSMUST00000099078
AA Change: D41E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096677
Gene: ENSMUSG00000074582
AA Change: D41E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144847

Meta Mutation Damage Score

0.0577

Coding Region Coverage

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

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,730,579	V500E	possibly damaging	Het
Ankrd34b	T	C	13: 92,439,462	S401P	probably benign	Het
Arid1a	T	C	4: 133,753,568	N15S	unknown	Het
Arsa	A	T	15: 89,474,718		probably null	Het
B3gnt9	C	A	8: 105,254,432	C108F	probably damaging	Het
Bbc3	C	A	7: 16,313,808	Y152*	probably null	Het
Btbd1	T	C	7: 81,818,209	M188V	probably benign	Het
Caln1	C	T	5: 130,822,997	T209I	probably benign	Het
Casp12	C	T	9: 5,353,763	P266S	possibly damaging	Het
Ccm2l	A	T	2: 153,070,867	I109F	probably damaging	Het
Chst15	A	C	7: 132,270,258	L98R	probably damaging	Het
Ctsq	A	G	13: 61,038,923	M89T	probably benign	Het
Ddx39b	T	C	17: 35,247,010	V169A	probably benign	Het
Ddx58	A	G	4: 40,213,804	V618A	probably benign	Het
Fam57b	T	C	7: 126,827,495	F80S	probably damaging	Het
Fhad1	T	C	4: 141,951,616	H583R	probably benign	Het
Fndc1	T	A	17: 7,800,931	I139F	probably damaging	Het
Gm5724	T	A	6: 141,773,778	M1L	probably damaging	Het
Gm7145	C	G	1: 117,985,831	H148D	probably benign	Het
Gpr62	C	A	9: 106,465,442	A96S	probably damaging	Het
Gsap	T	A	5: 21,270,620		probably null	Het
Hdhd5	T	A	6: 120,523,471	T89S	probably damaging	Het
Kcna5	T	A	6: 126,533,629	Y512F	probably damaging	Het
Krt84	C	A	15: 101,529,609	E304*	probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Lrp6	C	A	6: 134,507,551	V370L	probably benign	Het
Lrrc3c	G	A	11: 98,599,318	G167D	probably damaging	Het
Man2b1	C	T	8: 85,087,280	T291M	probably benign	Het
Mapkbp1	A	G	2: 120,025,132	E1438G	possibly damaging	Het
Med12l	A	G	3: 59,276,017	T1947A	probably benign	Het
Myh15	A	T	16: 49,061,574	T60S	probably damaging	Het
Myo5a	A	T	9: 75,171,563	I868F	probably benign	Het
Myom3	A	T	4: 135,808,851	I1278F	probably damaging	Het
Nbn	G	T	4: 15,983,677		probably null	Het
Ncam2	G	T	16: 81,490,374	S392I	probably damaging	Het
Nrg3	A	C	14: 38,370,735	L647*	probably null	Het
Olfr1062	T	A	2: 86,423,612		probably null	Het
Olfr1393	A	T	11: 49,280,358	D70V	probably damaging	Het
Olfr1406	A	T	1: 173,184,323	L37Q	possibly damaging	Het
Olfr721-ps1	T	C	14: 14,407,251	S8P	possibly damaging	Het
Pcdhb9	A	G	18: 37,401,492	N180D	possibly damaging	Het
Pcdhga4	A	G	18: 37,686,919	N507S	probably damaging	Het
Pdilt	A	G	7: 119,487,951	V492A	probably benign	Het
Phf12	A	G	11: 78,023,540	T603A	possibly damaging	Het
Phox2b	T	A	5: 67,097,585	I174F	probably benign	Het
Polq	A	T	16: 37,062,853	Q1793L	possibly damaging	Het
Prmt9	T	C	8: 77,555,764	F97L	probably benign	Het
Prpsap1	T	C	11: 116,494,044	E13G	probably benign	Het
Ptpru	A	G	4: 131,819,540	L280P	probably damaging	Het
Pygl	A	T	12: 70,197,406	M587K	probably benign	Het
Rc3h2	T	C	2: 37,409,647	S124G	probably benign	Het
Rdh5	A	G	10: 128,918,315	I83T	possibly damaging	Het
Ryr2	T	G	13: 11,810,908	R561S	probably damaging	Het
Scara3	A	G	14: 65,920,780	L593P	probably damaging	Het
Scfd2	T	C	5: 74,531,343	I93V	probably benign	Het
Sema4f	C	A	6: 82,917,883	V444L	possibly damaging	Het
Spata33	T	C	8: 123,214,395	L61P	unknown	Het
Stard10	A	T	7: 101,343,136		probably null	Het
Stub1	T	C	17: 25,832,064	I115V	probably benign	Het
Tmem247	C	T	17: 86,918,282	T50I	probably benign	Het
Tnrc6b	A	G	15: 80,887,022	M1103V	possibly damaging	Het
Trim61	T	C	8: 65,013,874	Y245C	probably benign	Het
Trip13	T	C	13: 73,920,011	I284V	probably benign	Het
Trpm4	T	C	7: 45,327,268		probably null	Het
Ttn	A	G	2: 76,730,574	L29161S	probably damaging	Het
Ttn	C	A	2: 76,909,748	L3528F	unknown	Het
Ube2v2	G	A	16: 15,581,084	T47I	probably benign	Het
Vwa5b1	C	T	4: 138,575,422	A921T	possibly damaging	Het
Xylt1	T	A	7: 117,637,602	F526Y	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
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
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'- CATGCTAGCACAGTGACTCC -3'
(R):5'- TCAAGCACATGTGTAGCACTGAG -3'

Sequencing Primer
(F):5'- TAGCACAGTGACTCCCATGG -3'
(R):5'- ACTGAGCCAGGCACCTG -3'

Posted On

2019-06-26