Mutagenetix > Incidental Mutation

Incidental Mutation 'R8130:Arfgef2'

631952

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

067559-MU

Accession Numbers

Essential gene?

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

Stock #

R8130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

166647508-166739972 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 166678170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 218 (S218T)

Ref Sequence

ENSEMBL: ENSMUSP00000096677 (fasta)

Gene Model

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

AlphaFold

A2A5R2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099078
AA Change: S218T

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096677
Gene: ENSMUSG00000074582
AA Change: S218T

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

possibly damaging
Transcript: ENSMUST00000144847
AA Change: S129T

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.1%
20x: 97.3%

Validation Efficiency

96% (52/54)

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
1700123K08Rik	T	C	5: 138,561,271 (GRCm39)	I130M	probably damaging	Het
4921539E11Rik	T	C	4: 103,092,895 (GRCm39)	D142G	probably damaging	Het
Abcb10	C	T	8: 124,691,757 (GRCm39)	A403T		Het
Armc8	C	T	9: 99,433,600 (GRCm39)	V40I	probably benign	Het
Caps2	A	T	10: 112,018,381 (GRCm39)	D177V	probably benign	Het
Cdh8	A	T	8: 99,757,676 (GRCm39)	F641I	probably damaging	Het
Cemip	T	C	7: 83,596,384 (GRCm39)	S1127G	probably benign	Het
Cmtm1	C	A	8: 105,036,088 (GRCm39)	Q180H	unknown	Het
Col15a1	C	T	4: 47,312,196 (GRCm39)	T1337I	probably damaging	Het
Col18a1	A	T	10: 76,910,284 (GRCm39)	M555K	probably benign	Het
Ctrb1	A	G	8: 112,415,823 (GRCm39)	F89L	possibly damaging	Het
Disp1	T	C	1: 182,917,199 (GRCm39)	T76A	probably benign	Het
Dpep1	T	C	8: 123,926,965 (GRCm39)	V263A	probably damaging	Het
Dysf	G	A	6: 84,114,358 (GRCm39)	E1216K	probably damaging	Het
F830016B08Rik	A	G	18: 60,433,052 (GRCm39)	Y45C	probably benign	Het
Fam186a	CGG	CG	15: 99,841,914 (GRCm39)		probably null	Het
Gcm1	T	A	9: 77,971,816 (GRCm39)	D252E	probably benign	Het
Gm11559	A	G	11: 99,755,416 (GRCm39)	T22A	unknown	Het
Gm4847	C	T	1: 166,465,917 (GRCm39)	R224Q	probably damaging	Het
Hypk	A	G	2: 121,286,859 (GRCm39)		probably benign	Het
I830077J02Rik	C	T	3: 105,834,233 (GRCm39)	C64Y	possibly damaging	Het
Igkv4-86	T	C	6: 68,887,650 (GRCm39)	I30V	probably benign	Het
Il17ra	A	G	6: 120,455,416 (GRCm39)	I342V	probably benign	Het
Kcnip3	C	T	2: 127,352,828 (GRCm39)	A64T	possibly damaging	Het
Kdm5d	T	A	Y: 940,658 (GRCm39)	D1056E	possibly damaging	Het
Kif19b	C	T	5: 140,460,716 (GRCm39)	R461C	probably damaging	Het
Krtap19-2	C	T	16: 88,670,903 (GRCm39)	G81R	unknown	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lpin1	A	T	12: 16,629,965 (GRCm39)	I69N		Het
Matcap1	G	A	8: 106,012,145 (GRCm39)	R101W	probably benign	Het
Mki67	C	T	7: 135,299,293 (GRCm39)	D1914N	probably damaging	Het
Mmrn1	A	T	6: 60,937,707 (GRCm39)	Q235L	probably damaging	Het
Mndal	T	A	1: 173,699,111 (GRCm39)	K185*	probably null	Het
Muc6	T	C	7: 141,233,354 (GRCm39)	T802A	probably damaging	Het
Necab1	A	T	4: 15,005,073 (GRCm39)	F130L	probably damaging	Het
Nemf	A	T	12: 69,402,826 (GRCm39)	M70K	possibly damaging	Het
Nploc4	A	G	11: 120,280,240 (GRCm39)	I436T	possibly damaging	Het
Obscn	C	A	11: 59,015,439 (GRCm39)	R1011M	probably damaging	Het
Or4k44	A	T	2: 111,367,825 (GRCm39)	F270I	probably damaging	Het
Or5aq1b	T	C	2: 86,901,570 (GRCm39)	K303E	probably benign	Het
Or8k24	T	A	2: 86,215,911 (GRCm39)	M284L	probably benign	Het
Ormdl1	T	A	1: 53,338,139 (GRCm39)	M1K	probably null	Het
Pramel34	A	T	5: 93,784,597 (GRCm39)	L289Q	probably damaging	Het
Psmb3	A	G	11: 97,594,723 (GRCm39)	D38G	probably benign	Het
Psme4	T	A	11: 30,792,026 (GRCm39)	L1171Q	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Slc22a18	G	A	7: 143,052,911 (GRCm39)	V379I	probably damaging	Het
Speg	T	A	1: 75,392,240 (GRCm39)	F1632L	probably damaging	Het
Taok1	G	A	11: 77,470,659 (GRCm39)	R49C	possibly damaging	Het
Ttll6	T	C	11: 96,047,425 (GRCm39)	S675P	probably benign	Het
Usp8	A	T	2: 126,559,918 (GRCm39)		probably benign	Het
Vmn2r81	T	A	10: 79,110,538 (GRCm39)	N550K	possibly damaging	Het
Zfp119a	A	T	17: 56,172,971 (GRCm39)	C291S	probably damaging	Het
Zfp329	C	A	7: 12,544,313 (GRCm39)	G404C	probably damaging	Het
Zfp934	C	A	13: 62,667,985 (GRCm39)		probably null	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
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'- CAGAACAAAAGTTCGGTCAGC -3'
(R):5'- TGCCCCATGTAGAAGCCAAG -3'

Sequencing Primer
(F):5'- ACAAAAGTTCGGTCAGCTGCTTG -3'
(R):5'- AAGCGTTCCCAGTGTGTC -3'

Posted On

2020-06-30