Mutagenetix > Incidental Mutation

Incidental Mutation 'R9077:Arfgef2'

689836

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

068898-MU

Accession Numbers

Essential gene?

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

Stock #

R9077 (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 166706721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 982 (I982V)

Ref Sequence

ENSEMBL: ENSMUSP00000096677 (fasta)

Gene Model

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

AlphaFold

A2A5R2

Predicted Effect

probably damaging
Transcript: ENSMUST00000099078
AA Change: I982V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096677
Gene: ENSMUSG00000074582
AA Change: I982V

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: 99.4%
20x: 97.5%

Validation Efficiency

100% (48/48)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	A	G	7: 139,567,552 (GRCm39)	V397A	probably benign	Het
Alkbh3	A	G	2: 93,811,925 (GRCm39)	V235A	probably damaging	Het
Arfgef3	T	C	10: 18,500,899 (GRCm39)	D1117G	possibly damaging	Het
Arhgap31	G	T	16: 38,422,730 (GRCm39)	A1112D	probably damaging	Het
Arhgef4	T	C	1: 34,760,824 (GRCm39)	C27R	unknown	Het
Bzw1	T	A	1: 58,438,190 (GRCm39)	M90K	probably benign	Het
Cdk17	T	C	10: 93,068,277 (GRCm39)	Y345H	probably damaging	Het
Cip2a	A	G	16: 48,827,511 (GRCm39)	I459V	probably benign	Het
Cog8	C	T	8: 107,779,208 (GRCm39)	M356I	probably damaging	Het
Ctsw	T	C	19: 5,516,431 (GRCm39)	D173G	probably benign	Het
Dnah6	A	T	6: 73,121,029 (GRCm39)	C1488*	probably null	Het
Dnah7a	T	C	1: 53,741,218 (GRCm39)	K13E	unknown	Het
Eif3f	A	G	7: 108,539,425 (GRCm39)	M232V	probably benign	Het
Gk5	C	A	9: 96,001,634 (GRCm39)	T44K	probably benign	Het
Glrb	A	G	3: 80,763,217 (GRCm39)	F260S	probably damaging	Het
Glyctk	C	A	9: 106,032,522 (GRCm39)	R497L	probably benign	Het
Gm10153	G	T	7: 141,743,383 (GRCm39)	C248*	probably null	Het
Hand2	A	G	8: 57,776,836 (GRCm39)	K199E	probably damaging	Het
Heatr1	T	A	13: 12,428,247 (GRCm39)	C795S	probably benign	Het
Il31ra	T	C	13: 112,670,361 (GRCm39)	I342M	probably benign	Het
Itm2b	G	T	14: 73,605,865 (GRCm39)	D40E	probably benign	Het
Ksr1	T	C	11: 78,927,552 (GRCm39)	T371A	probably damaging	Het
Lctl	C	A	9: 64,039,241 (GRCm39)		probably benign	Het
Lpin1	G	A	12: 16,591,747 (GRCm39)	P827S		Het
Lyst	T	C	13: 13,857,693 (GRCm39)	I2494T	probably benign	Het
Mia2	A	G	12: 59,226,760 (GRCm39)	N510S	possibly damaging	Het
Mycbp2	T	C	14: 103,469,974 (GRCm39)	D1308G	probably damaging	Het
Naip2	C	T	13: 100,291,459 (GRCm39)	D1160N	probably benign	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Omt2b	T	C	9: 78,235,548 (GRCm39)		probably null	Het
Or2j6	G	A	7: 139,980,809 (GRCm39)	P50L	probably benign	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Or56b1	A	G	7: 104,285,618 (GRCm39)	T246A	probably damaging	Het
Pan2	A	G	10: 128,148,856 (GRCm39)	Y490C	probably damaging	Het
Pard6g	A	G	18: 80,160,772 (GRCm39)	E295G	probably damaging	Het
Pcdhb8	T	C	18: 37,489,414 (GRCm39)	V23A	probably damaging	Het
Phactr3	A	T	2: 177,974,758 (GRCm39)		probably benign	Het
Pip	G	A	6: 41,828,388 (GRCm39)	S74N	probably damaging	Het
Plau	G	A	14: 20,889,949 (GRCm39)	E265K	probably benign	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Rcor3	C	T	1: 191,807,865 (GRCm39)	D230N	probably damaging	Het
Siglec15	A	G	18: 78,091,983 (GRCm39)	Y73H	possibly damaging	Het
Spag16	T	A	1: 70,532,930 (GRCm39)		probably benign	Het
Spta1	G	T	1: 174,045,170 (GRCm39)	D1506Y	probably damaging	Het
Tacr3	A	T	3: 134,635,711 (GRCm39)	Y305F	probably benign	Het
Tcstv7a	T	C	13: 120,289,885 (GRCm39)	M104V	probably benign	Het
Vmn1r83	G	A	7: 12,055,571 (GRCm39)	T162M	probably damaging	Het
Vmn2r116	G	T	17: 23,604,956 (GRCm39)	D90Y	probably benign	Het
Wdr76	A	G	2: 121,364,608 (GRCm39)	N304S	probably benign	Het
Wee1	G	A	7: 109,725,963 (GRCm39)	V358I	probably damaging	Het
Zan	G	A	5: 137,401,468 (GRCm39)	P4084S	unknown	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
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
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'- CCAAAGCCTACTGTGTGCATTTG -3'
(R):5'- AGAACTCTGTCTTCGTGGGC -3'

Sequencing Primer
(F):5'- AAGCCTACTGTGTGCATTTGGAAATG -3'
(R):5'- GCAGATTGCAGATTCATGAGG -3'

Posted On

2021-11-19