Incidental Mutation 'R1226:Arfgef2'
ID 152220
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 039295-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.381) question?
Stock # R1226 (G1)
Quality Score 217
Status Not validated
Chromosome 2
Chromosomal Location 166647508-166739972 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 166669560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 84 (V84A)
Ref Sequence ENSEMBL: ENSMUSP00000096677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099078] [ENSMUST00000144847]
AlphaFold A2A5R2
Predicted Effect probably damaging
Transcript: ENSMUST00000099078
AA Change: V84A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096677
Gene: ENSMUSG00000074582
AA Change: V84A

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
Predicted Effect probably benign
Transcript: ENSMUST00000144847
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Abcd2 G T 15: 91,075,246 (GRCm39) A189E probably benign Het
Ahcy T C 2: 154,906,817 (GRCm39) T159A probably benign Het
Brwd1 G A 16: 95,832,748 (GRCm39) T1036M probably benign Het
Ccdc187 G T 2: 26,166,133 (GRCm39) S765R probably damaging Het
Cfap210 A G 2: 69,617,553 (GRCm39) M76T possibly damaging Het
Chd1l G A 3: 97,469,941 (GRCm39) R862* probably null Het
Crmp1 A G 5: 37,430,778 (GRCm39) D71G probably damaging Het
Ctif CTGTGTCCGGTGT CTGT 18: 75,654,650 (GRCm39) probably benign Het
Ctsb A C 14: 63,379,189 (GRCm39) Y267S probably damaging Het
Cyp4a12b T A 4: 115,290,164 (GRCm39) I239N possibly damaging Het
Dna2 T C 10: 62,796,203 (GRCm39) V544A possibly damaging Het
Dnhd1 T A 7: 105,346,106 (GRCm39) F2364Y probably damaging Het
Fsip2 A T 2: 82,811,355 (GRCm39) E2558V probably damaging Het
Gm10061 A C 16: 88,948,169 (GRCm39) Y48S unknown Het
Herc1 T A 9: 66,323,545 (GRCm39) M1353K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lin7a T C 10: 107,107,780 (GRCm39) V20A probably benign Het
Lsr T A 7: 30,671,308 (GRCm39) I142F probably damaging Het
Mei1 C T 15: 81,964,285 (GRCm39) T275I possibly damaging Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Mrpl32 A G 13: 14,786,096 (GRCm39) I74T probably benign Het
Nek11 C T 9: 105,270,091 (GRCm39) V44I probably damaging Het
Noa1 A G 5: 77,455,402 (GRCm39) V438A possibly damaging Het
Or5an1c A C 19: 12,218,950 (GRCm39) I25R probably benign Het
Or7g16 C T 9: 18,727,266 (GRCm39) C108Y probably benign Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pcdhb17 T C 18: 37,620,313 (GRCm39) L701P probably damaging Het
Pde11a G A 2: 75,988,698 (GRCm39) S481L probably benign Het
Prkdc T C 16: 15,491,861 (GRCm39) I602T possibly damaging Het
Ptprh T A 7: 4,606,091 (GRCm39) R3* probably null Het
Reln A G 5: 22,115,864 (GRCm39) L3048P probably damaging Het
Slc6a11 T A 6: 114,171,624 (GRCm39) I265N possibly damaging Het
Sorbs2 T C 8: 46,248,656 (GRCm39) S636P probably damaging Het
Supt5 T C 7: 28,028,172 (GRCm39) I44V probably benign Het
Tdrd6 T A 17: 43,937,523 (GRCm39) E1175V possibly damaging Het
Tnxb A C 17: 34,907,903 (GRCm39) T1316P probably damaging Het
Ufc1 A C 1: 171,116,810 (GRCm39) D119E probably benign Het
Vmn1r220 A G 13: 23,368,294 (GRCm39) F134S probably damaging Het
Zfp106 A G 2: 120,354,560 (GRCm39) S1404P probably damaging Het
Zfp866 A G 8: 70,218,940 (GRCm39) F227L probably damaging Het
Zfyve28 A T 5: 34,374,408 (GRCm39) H535Q probably benign 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
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
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'- TAACCACAGTTCCAGGAGAGCGAG -3'
(R):5'- TGTGACTGTAGCTAAGGAGCACAGG -3'

Sequencing Primer
(F):5'- AGTGCTTACAGTCACCGTG -3'
(R):5'- ATTCTCAGTGCCAGAGCAG -3'
Posted On 2014-01-29