Mutagenetix > Incidental Mutation

Incidental Mutation 'R8003:Arfgef2'

616440

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

046043-MU

Accession Numbers

Essential gene?

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

Stock #

R8003 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

166647508-166739972 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 166695208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 527 (Y527C)

Ref Sequence

ENSEMBL: ENSMUSP00000096677 (fasta)

Gene Model

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

AlphaFold

A2A5R2

Predicted Effect

probably damaging
Transcript: ENSMUST00000099078
AA Change: Y527C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096677
Gene: ENSMUSG00000074582
AA Change: Y527C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	A	G	14: 56,019,092 (GRCm39)	V155A	probably benign	Het
Brca1	C	T	11: 101,415,303 (GRCm39)	G944R	probably benign	Het
C2cd2	A	G	16: 97,687,286 (GRCm39)		probably null	Het
Cass4	T	C	2: 172,269,879 (GRCm39)	F654L	unknown	Het
Ccdc178	A	T	18: 21,977,944 (GRCm39)		probably null	Het
Cct4	T	C	11: 22,946,040 (GRCm39)		probably null	Het
Cish	T	C	9: 107,174,227 (GRCm39)	V5A	possibly damaging	Het
Col5a1	G	A	2: 27,848,340 (GRCm39)		probably benign	Het
Col6a3	G	T	1: 90,703,455 (GRCm39)	N3037K	unknown	Het
Csmd2	T	A	4: 128,432,980 (GRCm39)	C3012*	probably null	Het
Dclk2	T	C	3: 86,700,608 (GRCm39)		probably null	Het
Dhx38	A	T	8: 110,282,772 (GRCm39)	D631E	probably damaging	Het
Eif2ak2	C	A	17: 79,183,652 (GRCm39)	A66S	probably damaging	Het
Ephx2	A	G	14: 66,361,782 (GRCm39)		probably null	Het
Fbxw10	T	G	11: 62,748,587 (GRCm39)	C405G	possibly damaging	Het
Galnt13	G	T	2: 54,950,497 (GRCm39)	G393*	probably null	Het
Gm5591	G	T	7: 38,219,183 (GRCm39)	H563Q	probably damaging	Het
Gtf3c5	A	G	2: 28,459,373 (GRCm39)	I394T	probably benign	Het
Hectd4	G	A	5: 121,477,581 (GRCm39)	A2835T	possibly damaging	Het
Herc2	A	G	7: 55,818,652 (GRCm39)	D2781G	possibly damaging	Het
Kmt2b	G	T	7: 30,268,802 (GRCm39)	H2642Q	probably damaging	Het
Lars1	A	T	18: 42,354,684 (GRCm39)	D754E	probably damaging	Het
Lrpprc	A	C	17: 85,059,745 (GRCm39)	S690A	probably benign	Het
Map3k6	A	G	4: 132,976,193 (GRCm39)	T805A	probably benign	Het
Mthfd1l	T	G	10: 3,934,147 (GRCm39)	S160A	probably benign	Het
Mtmr6	G	A	14: 60,519,544 (GRCm39)		probably null	Het
Mybpc2	A	T	7: 44,158,488 (GRCm39)	M698K	probably damaging	Het
Myh8	T	A	11: 67,190,586 (GRCm39)	L1304M	probably damaging	Het
Mylip	T	A	13: 45,557,947 (GRCm39)	V117E	probably benign	Het
Npc1l1	T	C	11: 6,165,129 (GRCm39)	Q1061R	probably benign	Het
Or12e13	A	G	2: 87,664,081 (GRCm39)	R233G	probably benign	Het
Or5d37	A	T	2: 87,923,589 (GRCm39)	Y230*	probably null	Het
Pkd2l2	G	A	18: 34,561,232 (GRCm39)	M413I	probably damaging	Het
Plch2	C	T	4: 155,138,980 (GRCm39)	G19D	unknown	Het
Pramel17	T	C	4: 101,693,130 (GRCm39)	K290R	probably benign	Het
Psg22	A	C	7: 18,458,350 (GRCm39)	Y347S	probably damaging	Het
Ptpre	C	A	7: 135,270,765 (GRCm39)	Q314K	probably damaging	Het
Rgs6	T	C	12: 83,032,144 (GRCm39)	S54P	probably damaging	Het
Sbds	C	A	5: 130,279,726 (GRCm39)	V130F	possibly damaging	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc24a2	A	T	4: 87,094,552 (GRCm39)	D322E	probably benign	Het
Slc45a4	G	T	15: 73,457,162 (GRCm39)	Y585*	probably null	Het
Slc7a4	A	C	16: 17,392,315 (GRCm39)	V373G	possibly damaging	Het
Sulf1	G	A	1: 12,908,825 (GRCm39)	V613M	probably damaging	Het
Syt1	T	C	10: 108,472,434 (GRCm39)	D150G	probably damaging	Het
Tnpo3	C	A	6: 29,551,900 (GRCm39)	V888F	probably benign	Het
Trim9	T	C	12: 70,393,608 (GRCm39)	H112R	probably benign	Het
Vmn2r80	T	C	10: 78,984,711 (GRCm39)	I21T	probably benign	Het
Wdr41	C	A	13: 95,149,654 (GRCm39)	A286E	possibly damaging	Het
Wnt8b	T	A	19: 44,500,396 (GRCm39)	C328S	probably damaging	Het
Ybx3	A	T	6: 131,345,400 (GRCm39)	Y324*	probably null	Het
Zmynd15	T	A	11: 70,351,767 (GRCm39)	H124Q	probably benign	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
R6726:Arfgef2	UTSW	2	166,735,540 (GRCm39)	critical splice donor 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
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'- CCACCTTGGACAAAAGTGTGC -3'
(R):5'- TCCCATGATGGTTACTGAAGTG -3'

Sequencing Primer
(F):5'- TTTTTAAGAAAGCACAGCTGGAGCC -3'
(R):5'- GTGAGTGACCTTTAAAGACAACC -3'

Posted On

2020-01-23