Mutagenetix > Incidental Mutation

Incidental Mutation 'R8967:Arfgef2'

682785

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

068801-MU

Accession Numbers

Essential gene?

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

Stock #

R8967 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

166647508-166739972 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 166677662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 185 (T185S)

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: T185S

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

SMART Domains

Protein: ENSMUSP00000096677
Gene: ENSMUSG00000074582
AA Change: T185S

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 damaging
Transcript: ENSMUST00000144847
AA Change: T96S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (52/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,242,696 (GRCm39)	S1520P	probably benign	Het
Abhd12	A	G	2: 150,679,351 (GRCm39)	Y291H	probably damaging	Het
Abr	C	A	11: 76,369,855 (GRCm39)	S178I	possibly damaging	Het
Akap13	T	A	7: 75,378,882 (GRCm39)	I422K	possibly damaging	Het
Arfip2	A	T	7: 105,286,341 (GRCm39)	Y228N	probably damaging	Het
B4gat1	T	C	19: 5,089,678 (GRCm39)	V225A	probably damaging	Het
Brf1	G	A	12: 112,937,239 (GRCm39)	P183S	probably damaging	Het
Ceacam1	T	C	7: 25,163,297 (GRCm39)	N312S	possibly damaging	Het
Cep135	T	C	5: 76,751,165 (GRCm39)	L337P	probably damaging	Het
Cnppd1	A	T	1: 75,113,265 (GRCm39)	C334*	probably null	Het
Cpxm2	A	T	7: 131,661,564 (GRCm39)	Y408N	probably damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dlx3	T	C	11: 95,014,577 (GRCm39)	Y287H	probably damaging	Het
Dnah7a	A	T	1: 53,682,594 (GRCm39)		probably benign	Het
Dnah9	C	A	11: 66,015,938 (GRCm39)		probably null	Het
Dnai3	T	A	3: 145,761,395 (GRCm39)	N654Y	possibly damaging	Het
Dnajc1	A	T	2: 18,313,757 (GRCm39)	Y121*	probably null	Het
Ecel1	A	T	1: 87,078,862 (GRCm39)	Y526N	probably damaging	Het
Ect2	A	T	3: 27,199,132 (GRCm39)	V218E	probably damaging	Het
Heca	A	G	10: 17,790,738 (GRCm39)		probably null	Het
Hsd17b7	A	T	1: 169,796,685 (GRCm39)	L6*	probably null	Het
Irgc	T	A	7: 24,132,737 (GRCm39)	T27S	probably benign	Het
Lama3	A	C	18: 12,665,096 (GRCm39)	I671L	possibly damaging	Het
Mybl2	T	C	2: 162,914,806 (GRCm39)	L308P	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nphp1	G	A	2: 127,582,897 (GRCm39)	P672L	probably damaging	Het
Oas3	G	A	5: 120,896,907 (GRCm39)	H905Y	probably damaging	Het
Obscn	A	G	11: 58,972,740 (GRCm39)	V2102A	probably benign	Het
Or10j3	A	G	1: 173,031,039 (GRCm39)	T39A	probably benign	Het
Or1j20	A	T	2: 36,760,066 (GRCm39)	T163S	probably damaging	Het
Or2a57	T	C	6: 43,213,073 (GRCm39)	F177S	probably damaging	Het
Or4p8	A	T	2: 88,727,844 (GRCm39)	Y32*	probably null	Het
Or6z7	A	G	7: 6,484,011 (GRCm39)	L48P	possibly damaging	Het
Pank4	C	G	4: 155,055,415 (GRCm39)	H262D	probably benign	Het
Phkb	T	A	8: 86,756,063 (GRCm39)		probably benign	Het
Pxylp1	G	A	9: 96,707,324 (GRCm39)	T286M	probably damaging	Het
Pygm	A	T	19: 6,434,744 (GRCm39)	D79V	probably damaging	Het
Rapgef4	A	G	2: 72,056,854 (GRCm39)	T682A	possibly damaging	Het
Sec24b	C	T	3: 129,785,084 (GRCm39)	R974Q	probably damaging	Het
Serpinb6e	A	G	13: 34,020,419 (GRCm39)	F230L	possibly damaging	Het
Skint6	A	T	4: 112,729,701 (GRCm39)	L850*	probably null	Het
Slc7a11	C	A	3: 50,338,564 (GRCm39)	V282L	probably benign	Het
Smg1	A	G	7: 117,765,739 (GRCm39)	S1895P	unknown	Het
Tango2	A	G	16: 18,165,763 (GRCm39)		probably benign	Het
Tmc7	G	A	7: 118,160,228 (GRCm39)	P203L	probably benign	Het
Tmem64	T	A	4: 15,266,575 (GRCm39)	F208L	probably damaging	Het
Tpcn1	A	T	5: 120,694,023 (GRCm39)	V191E	probably damaging	Het
Zbtb41	A	G	1: 139,370,587 (GRCm39)	I675V	probably benign	Het
Zfp180	T	C	7: 23,804,726 (GRCm39)	S382P	probably damaging	Het
Zfp932	A	G	5: 110,156,883 (GRCm39)	S194G	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
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
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'- CTGTTCTGGAAAGTTTGCCCAG -3'
(R):5'- TTCAAAACCCAGGCTAGAGTTGC -3'

Sequencing Primer
(F):5'- AGTTTGCCCAGGAGAAATATGG -3'
(R):5'- ACCCAGGCTAGAGTTGCAATCTG -3'

Posted On

2021-10-11