Incidental Mutation 'R9776:Arfgef2'
ID 733679
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.381) question?
Stock # R9776 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 166647508-166739972 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 166713447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 1283 (E1283K)
Ref Sequence ENSEMBL: ENSMUSP00000096677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099078]
AlphaFold A2A5R2
Predicted Effect probably damaging
Transcript: ENSMUST00000099078
AA Change: E1283K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096677
Gene: ENSMUSG00000074582
AA Change: E1283K

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.5%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700069L16Rik T G 5: 113,861,765 (GRCm39) Q35P unknown Het
2010109A12Rik T A 5: 93,361,305 (GRCm39) *120K probably null Het
2700049A03Rik A G 12: 71,235,448 (GRCm39) T1133A possibly damaging Het
A830005F24Rik G A 13: 48,667,758 (GRCm39) R20Q unknown Het
Acta2 T C 19: 34,223,481 (GRCm39) T205A probably benign Het
Adcy5 A G 16: 35,100,725 (GRCm39) D759G probably damaging Het
Ankk1 T A 9: 49,330,714 (GRCm39) M276L probably benign Het
Arhgef26 G T 3: 62,246,803 (GRCm39) probably benign Het
Arhgef28 A C 13: 98,133,415 (GRCm39) S351A probably benign Het
Arih2 C T 9: 108,484,504 (GRCm39) G436S probably damaging Het
Bptf T C 11: 106,969,396 (GRCm39) T1013A probably damaging Het
Camsap1 A T 2: 25,828,166 (GRCm39) V1186E probably benign Het
Capn10 G T 1: 92,871,586 (GRCm39) A395S possibly damaging Het
Ccdc184 A T 15: 98,066,737 (GRCm39) T181S probably damaging Het
Clasp1 T C 1: 118,509,108 (GRCm39) I1345T possibly damaging Het
Cpsf1 A T 15: 76,486,779 (GRCm39) H252Q probably damaging Het
Ctnna2 T A 6: 77,582,172 (GRCm39) M363L probably benign Het
Cyp24a1 G A 2: 170,338,625 (GRCm39) P24S probably benign Het
D130040H23Rik A G 8: 69,755,566 (GRCm39) H341R probably damaging Het
Dclk3 A G 9: 111,298,226 (GRCm39) E590G probably damaging Het
Ear2 A T 14: 44,340,729 (GRCm39) Y129F probably benign Het
Egf A G 3: 129,530,514 (GRCm39) L216P probably damaging Het
Fbxw9 T A 8: 85,792,523 (GRCm39) H319Q probably damaging Het
Gipr A G 7: 18,891,487 (GRCm39) S397P probably damaging Het
Gxylt2 G T 6: 100,682,072 (GRCm39) E90* probably null Het
Hnf1b T C 11: 83,784,283 (GRCm39) V473A probably benign Het
Iffo1 G A 6: 125,130,436 (GRCm39) E475K probably damaging Het
Ifi206 T A 1: 173,308,075 (GRCm39) R640S Het
Ipmk A G 10: 71,217,439 (GRCm39) S328G probably damaging Het
Kcnq1 A T 7: 142,737,368 (GRCm39) I229F probably damaging Het
Kif9 C A 9: 110,350,398 (GRCm39) T763N probably benign Het
Klhl36 C T 8: 120,601,129 (GRCm39) Q383* probably null Het
Lrp4 G T 2: 91,316,179 (GRCm39) V766F probably damaging Het
Mettl26 T A 17: 26,094,511 (GRCm39) M3K probably benign Het
Muc16 T A 9: 18,570,675 (GRCm39) I615F unknown Het
Myo7b T A 18: 32,133,068 (GRCm39) Q427L probably benign Het
Naip1 A G 13: 100,559,584 (GRCm39) M1140T probably benign Het
Ncapg G A 5: 45,829,834 (GRCm39) V179I probably damaging Het
Nme4 C T 17: 26,314,410 (GRCm39) G6E possibly damaging Het
Nr1h4 T C 10: 89,319,311 (GRCm39) Y185C probably damaging Het
Nt5c3b T C 11: 100,327,012 (GRCm39) I95V probably benign Het
Ntaq1 A G 15: 58,004,913 (GRCm39) T9A probably benign Het
Or2y3 C T 17: 38,393,470 (GRCm39) R133H probably benign Het
Or5g9 A T 2: 85,552,145 (GRCm39) Y132F probably damaging Het
Or5t16 A T 2: 86,819,055 (GRCm39) I155N probably damaging Het
Pappa2 G T 1: 158,611,481 (GRCm39) P1494Q probably damaging Het
Pdzd2 A G 15: 12,457,909 (GRCm39) F144S probably benign Het
Phactr3 A G 2: 177,975,896 (GRCm39) H547R probably damaging Het
Pik3c2b T A 1: 133,018,588 (GRCm39) S1012T possibly damaging Het
Plppr2 G A 9: 21,859,107 (GRCm39) G408D probably damaging Het
Pom121 T A 5: 135,420,554 (GRCm39) N289I unknown Het
Ppa1 T A 10: 61,487,362 (GRCm39) S30T probably damaging Het
Rgs5 A T 1: 169,518,089 (GRCm39) K108* probably null Het
Rpap1 A G 2: 119,607,278 (GRCm39) V287A probably benign Het
Ryr1 A G 7: 28,774,664 (GRCm39) Y2326H probably damaging Het
Ryr2 A G 13: 11,707,599 (GRCm39) S2813P probably damaging Het
Sap25 T C 5: 137,640,702 (GRCm39) probably null Het
Senp5 T C 16: 31,782,279 (GRCm39) Y739C probably damaging Het
Slc25a29 A T 12: 108,793,017 (GRCm39) L187Q possibly damaging Het
Slc7a2 C T 8: 41,358,641 (GRCm39) T328M probably damaging Het
Slc7a8 T C 14: 55,018,759 (GRCm39) N9S probably benign Het
Snx18 A G 13: 113,754,039 (GRCm39) V298A probably benign Het
Spo11 T A 2: 172,833,904 (GRCm39) I342N possibly damaging Het
Ssc5d A G 7: 4,932,367 (GRCm39) K344E probably benign Het
Sspo A T 6: 48,439,269 (GRCm39) D1639V probably benign Het
Stk32b T C 5: 37,617,001 (GRCm39) D285G probably benign Het
Sult1b1 T C 5: 87,662,815 (GRCm39) D295G probably benign Het
Syt5 A G 7: 4,544,831 (GRCm39) L274P probably damaging Het
Tas1r2 T C 4: 139,396,208 (GRCm39) S545P possibly damaging Het
Tbc1d17 T G 7: 44,490,696 (GRCm39) D632A probably damaging Het
Tbc1d2 A G 4: 46,650,007 (GRCm39) S10P probably benign Het
Tlk1 A T 2: 70,555,908 (GRCm39) I417N probably damaging Het
Tmem184a C T 5: 139,791,984 (GRCm39) R348H possibly damaging Het
Togaram2 T A 17: 72,023,508 (GRCm39) V808D possibly damaging Het
Tpr A G 1: 150,324,939 (GRCm39) Q2397R probably benign Het
Trav7-4 A G 14: 53,698,994 (GRCm39) D47G possibly damaging Het
Usp17le T A 7: 104,419,814 (GRCm39) M35L probably benign Het
Vegfc C T 8: 54,633,829 (GRCm39) S262L probably benign Het
Vmn2r74 T A 7: 85,605,212 (GRCm39) I479L possibly damaging Het
Vps13a A T 19: 16,736,958 (GRCm39) F126L probably benign Het
Zfp945 C A 17: 23,070,582 (GRCm39) C460F possibly damaging Het
Zmym4 G T 4: 126,804,942 (GRCm39) S439R possibly damaging Het
Zscan4-ps3 A G 7: 11,344,093 (GRCm39) E17G 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
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
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'- AAGTATGTCAGCTGTGCGAAG -3'
(R):5'- TTTTAGGAGGACAGTCTGCAG -3'

Sequencing Primer
(F):5'- AAGCCTTGTCCAGCAGC -3'
(R):5'- TGGTAACTGCATGGAATCCC -3'
Posted On 2022-11-14