Incidental Mutation 'R7869:Arfgef2'
ID 607955
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 045921-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.414) question?
Stock # R7869 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 166647508-166739972 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 166715623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1356 (T1356I)
Ref Sequence ENSEMBL: ENSMUSP00000096677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099078]
AlphaFold A2A5R2
Predicted Effect probably damaging
Transcript: ENSMUST00000099078
AA Change: T1356I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096677
Gene: ENSMUSG00000074582
AA Change: T1356I

DomainStartEndE-ValueType
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: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik G A 5: 113,332,001 (GRCm39) R738C possibly damaging Het
Acot12 G A 13: 91,919,844 (GRCm39) V260M probably benign Het
Alkbh8 A T 9: 3,359,503 (GRCm39) H264L probably damaging Het
Arhgap27 A T 11: 103,251,130 (GRCm39) N199K probably damaging Het
Asic2 T C 11: 81,858,824 (GRCm39) R63G probably damaging Het
Aspa T A 11: 73,204,378 (GRCm39) M197L probably benign Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
Brdt A T 5: 107,518,045 (GRCm39) I723L probably benign Het
C2cd3 T A 7: 100,118,698 (GRCm39) F2312Y probably damaging Het
Cd19 T C 7: 126,009,698 (GRCm39) N456S probably damaging Het
Ceacam1 G T 7: 25,175,954 (GRCm39) A80E probably damaging Het
Cep135 T C 5: 76,788,803 (GRCm39) V1132A probably benign Het
Cep85 A G 4: 133,859,609 (GRCm39) C687R probably damaging Het
Cln5 A G 14: 103,313,501 (GRCm39) Y251C probably damaging Het
Crygc A G 1: 65,111,014 (GRCm39) M91T possibly damaging Het
Ddt T C 10: 75,609,060 (GRCm39) K33R probably damaging Het
Dhfr G A 13: 92,494,471 (GRCm39) W58* probably null Het
Dhx40 T C 11: 86,688,532 (GRCm39) E297G probably benign Het
Dner T C 1: 84,361,602 (GRCm39) Y669C probably benign Het
Dpys G T 15: 39,656,782 (GRCm39) F428L probably damaging Het
Dspp A C 5: 104,323,531 (GRCm39) T225P probably damaging Het
Elac2 A G 11: 64,890,213 (GRCm39) K656E probably damaging Het
Ern1 T A 11: 106,349,845 (GRCm39) R24* probably null Het
F2rl2 T C 13: 95,837,519 (GRCm39) I188T probably damaging Het
Fam83b C T 9: 76,399,426 (GRCm39) C559Y possibly damaging Het
Fat1 T G 8: 45,504,259 (GRCm39) F4584C probably benign Het
Gabra6 G A 11: 42,207,322 (GRCm39) T254I possibly damaging Het
Garem1 T C 18: 21,432,757 (GRCm39) D24G probably damaging Het
Gas2l2 A T 11: 83,312,816 (GRCm39) L832* probably null Het
Gpr68 C T 12: 100,845,497 (GRCm39) D16N probably benign Het
Il17b T C 18: 61,825,480 (GRCm39) I172T probably damaging Het
Ildr2 T G 1: 166,136,861 (GRCm39) S567A probably benign Het
Kalrn A G 16: 33,809,217 (GRCm39) V2557A probably damaging Het
Kif1b A G 4: 149,268,833 (GRCm39) S1627P probably benign Het
Kif5a G A 10: 127,079,343 (GRCm39) T285M probably damaging Het
Lrif1 G A 3: 106,640,459 (GRCm39) probably null Het
Lrrn2 C T 1: 132,867,116 (GRCm39) T727I unknown Het
Lsg1 T C 16: 30,383,540 (GRCm39) E560G probably benign Het
Map4k4 C A 1: 40,013,204 (GRCm39) Q100K unknown Het
Mipep A T 14: 61,040,385 (GRCm39) R302W probably damaging Het
Morf4l1 G T 9: 89,975,844 (GRCm39) T316K probably damaging Het
Mov10 A T 3: 104,711,994 (GRCm39) V126E probably damaging Het
Muc2 T A 7: 141,303,471 (GRCm39) C559S Het
Myh7 A G 14: 55,226,530 (GRCm39) Y410H probably damaging Het
Nf1 T A 11: 79,309,414 (GRCm39) Y433N probably damaging Het
Nmd3 T C 3: 69,633,750 (GRCm39) L79P probably damaging Het
Nol10 G T 12: 17,408,239 (GRCm39) S155I probably null Het
Or2n1 T C 17: 38,486,830 (GRCm39) L285P possibly damaging Het
Or4p8 T C 2: 88,727,408 (GRCm39) I178V probably benign Het
Or52n2c T A 7: 104,574,311 (GRCm39) Y220F probably damaging Het
Or5b12 A G 19: 12,896,911 (GRCm39) I254T probably benign Het
Pde3b T C 7: 114,093,922 (GRCm39) S389P probably benign Het
Polr1c C T 17: 46,555,817 (GRCm39) G188D probably benign Het
Prpf31 A G 7: 3,633,859 (GRCm39) M65V probably benign Het
Pum2 A G 12: 8,763,595 (GRCm39) T251A probably benign Het
Rabgap1 G A 2: 37,377,142 (GRCm39) V325I probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rpl15 G T 14: 18,269,017 (GRCm38) Y203* probably null Het
Sac3d1 G A 19: 6,168,456 (GRCm39) P54L possibly damaging Het
Serpina3g A G 12: 104,206,510 (GRCm39) I104V probably benign Het
Setd2 C T 9: 110,379,082 (GRCm39) Q966* probably null Het
Simc1 G T 13: 54,651,713 (GRCm39) D9Y unknown Het
Slc5a8 T C 10: 88,757,567 (GRCm39) L519S probably benign Het
Srcap C A 7: 127,138,366 (GRCm39) Q1179K possibly damaging Het
Srd5a3 T C 5: 76,295,583 (GRCm39) L91P probably damaging Het
Stab1 T C 14: 30,876,429 (GRCm39) T887A probably benign Het
Sult2a6 A G 7: 13,988,737 (GRCm39) F8L not run Het
Thsd7a A T 6: 12,471,123 (GRCm39) C498* probably null Het
Timp4 T C 6: 115,227,355 (GRCm39) I75V probably benign Het
Tspyl4 T A 10: 34,174,096 (GRCm39) M196K probably damaging Het
Ubr2 T C 17: 47,301,934 (GRCm39) E172G probably benign Het
Ubr5 G A 15: 37,980,076 (GRCm39) A2434V probably null Het
Unc13c T G 9: 73,602,159 (GRCm39) L1362F probably damaging Het
Vmn2r11 A G 5: 109,199,986 (GRCm39) V489A probably damaging Het
Vps39 T C 2: 120,169,875 (GRCm39) T226A possibly damaging Het
Zan C T 5: 137,471,863 (GRCm39) E185K probably damaging Het
Other mutations in Arfgef2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGCCTCAGTCTTTGTGTGGC -3'
(R):5'- AAAGGTGTGGCCATAGCTC -3'

Sequencing Primer
(F):5'- GTGTGGCTGCTTTTCTGACCC -3'
(R):5'- AGGTGTGGCCATAGCTCTTCATAATC -3'
Posted On 2019-12-20