Mutagenetix > Incidental Mutation

Incidental Mutation 'R7598:Arfgef2'

587827

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

045641-MU

Accession Numbers

Essential gene?

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

Stock #

R7598 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

166647508-166739972 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 166698444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 638 (Q638P)

Ref Sequence

ENSEMBL: ENSMUSP00000096677 (fasta)

Gene Model

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

AlphaFold

A2A5R2

Predicted Effect

probably benign
Transcript: ENSMUST00000099078
AA Change: Q638P

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

SMART Domains

Protein: ENSMUSP00000096677
Gene: ENSMUSG00000074582
AA Change: Q638P

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

Validation Efficiency

100% (53/53)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,480,370 (GRCm39)	S234G	probably benign	Het
Agtr1b	A	T	3: 20,370,077 (GRCm39)	N176K	possibly damaging	Het
AI661453	T	C	17: 47,777,045 (GRCm39)	V257A	unknown	Het
Alpk2	T	A	18: 65,437,637 (GRCm39)	K1252M	probably damaging	Het
Angpt4	A	G	2: 151,767,445 (GRCm39)	T159A	possibly damaging	Het
Ap1g1	A	G	8: 110,576,308 (GRCm39)	N447S	probably benign	Het
Apoc4	A	G	7: 19,415,265 (GRCm39)	V14A	probably benign	Het
Arhgap20	C	A	9: 51,761,090 (GRCm39)	F980L	possibly damaging	Het
Arhgap27	G	A	11: 103,224,879 (GRCm39)	R459*	probably null	Het
Arhgef15	A	T	11: 68,837,236 (GRCm39)	L785Q	probably damaging	Het
B3gnt7	T	C	1: 86,233,500 (GRCm39)	F249L	probably benign	Het
Carmil3	A	G	14: 55,732,278 (GRCm39)	E233G	possibly damaging	Het
Ccdc122	C	A	14: 77,349,006 (GRCm39)	Q279K	probably benign	Het
Cilp2	A	G	8: 70,338,682 (GRCm39)	C134R	probably benign	Het
Clec4b1	G	A	6: 123,048,427 (GRCm39)	W187*	probably null	Het
Ddx11	G	A	17: 66,437,541 (GRCm39)		probably null	Het
Dhrs7c	A	T	11: 67,702,279 (GRCm39)		probably null	Het
Eif4g3	T	A	4: 137,921,435 (GRCm39)	H1387Q	probably benign	Het
Gsdmc4	T	C	15: 63,772,235 (GRCm39)	N148S	probably damaging	Het
Hs6st3	T	A	14: 120,106,750 (GRCm39)	V386E	probably damaging	Het
Itih3	C	T	14: 30,639,334 (GRCm39)	R413Q	possibly damaging	Het
Kcnj4	T	C	15: 79,369,965 (GRCm39)	N5S	probably benign	Het
Klhl18	A	T	9: 110,275,878 (GRCm39)	L155*	probably null	Het
Lima1	G	A	15: 99,717,577 (GRCm39)	P143L	probably benign	Het
Lzts2	G	T	19: 45,012,272 (GRCm39)	G234*	probably null	Het
Map4k5	A	T	12: 69,871,412 (GRCm39)	F503L	possibly damaging	Het
Men1	A	T	19: 6,389,735 (GRCm39)	I463L	probably benign	Het
Muc5b	A	G	7: 141,412,999 (GRCm39)	T1982A	unknown	Het
Myo18a	A	T	11: 77,738,172 (GRCm39)	T1705S	probably damaging	Het
Nipbl	T	C	15: 8,372,977 (GRCm39)	S1090G	probably benign	Het
Or2b7	T	C	13: 21,739,358 (GRCm39)	Y278C	probably damaging	Het
Or8k28	C	A	2: 86,286,234 (GRCm39)	C127F	probably damaging	Het
Pcdhb7	T	C	18: 37,475,833 (GRCm39)	F323S	probably damaging	Het
Pde11a	T	A	2: 75,966,767 (GRCm39)	T561S	probably damaging	Het
Phip	A	C	9: 82,787,711 (GRCm39)	S817R	possibly damaging	Het
Phxr2	T	A	10: 98,961,941 (GRCm39)	M40L	unknown	Het
Pip4k2a	T	A	2: 18,877,098 (GRCm39)	L212F	possibly damaging	Het
Proc	T	A	18: 32,268,929 (GRCm39)	I19L	probably benign	Het
Rbm4	T	C	19: 4,842,539 (GRCm39)	E100G	possibly damaging	Het
Rhobtb3	T	C	13: 76,059,021 (GRCm39)	Y259C	probably benign	Het
Rtkn	A	G	6: 83,124,884 (GRCm39)	D168G	probably null	Het
Sdk1	T	G	5: 141,595,753 (GRCm39)	Y136*	probably null	Het
Slk	G	A	19: 47,624,901 (GRCm39)	E1041K	probably damaging	Het
Smok2b	A	T	17: 13,454,973 (GRCm39)	R378*	probably null	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spag16	T	C	1: 69,909,467 (GRCm39)	F188S	probably damaging	Het
Tlnrd1	A	G	7: 83,531,838 (GRCm39)	C198R	probably damaging	Het
Tor1a	A	C	2: 30,857,796 (GRCm39)	I24S	probably benign	Het
Unc13b	C	A	4: 43,263,569 (GRCm39)	T1598K	probably benign	Het
Uncx	G	A	5: 139,529,809 (GRCm39)	V21M	probably benign	Het
Usp5	A	T	6: 124,803,342 (GRCm39)	F53I	possibly damaging	Het
Wbp2nl	A	G	15: 82,192,762 (GRCm39)	M149V	probably benign	Het
Zfp654	T	A	16: 64,606,297 (GRCm39)	E94V	possibly damaging	Het
Zfp689	A	G	7: 127,047,840 (GRCm39)	L64P	probably benign	Het
Zfyve28	A	C	5: 34,393,461 (GRCm39)	N68K	probably 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
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
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'- CCTGCTGCTGTTAGATGTGAAG -3'
(R):5'- AAGGCTTCTCCATCCAGAGC -3'

Sequencing Primer
(F):5'- CTGCTGTTAGATGTGAAGAAGGGC -3'
(R):5'- CCCTGCAGAGGTCCTTGAC -3'

Posted On

2019-10-24