Incidental Mutation 'R6293:Arfgef2'
ID 508535
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 044462-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.381) question?
Stock # R6293 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 166647508-166739972 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 166715508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 1318 (Y1318N)
Ref Sequence ENSEMBL: ENSMUSP00000096677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099078]
AlphaFold A2A5R2
Predicted Effect possibly damaging
Transcript: ENSMUST00000099078
AA Change: Y1318N

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096677
Gene: ENSMUSG00000074582
AA Change: Y1318N

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
Meta Mutation Damage Score 0.1143 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.4%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,935,395 (GRCm39) D323G probably damaging Het
Abcb1b T C 5: 8,903,493 (GRCm39) I1048T probably benign Het
Adgra3 G A 5: 50,118,189 (GRCm39) P1120S probably benign Het
Alkbh8 G T 9: 3,347,841 (GRCm39) L211F possibly damaging Het
Ankrd27 T C 7: 35,307,885 (GRCm39) S375P possibly damaging Het
Apoc1 T A 7: 19,425,817 (GRCm39) T68S probably damaging Het
Camsap2 C A 1: 136,215,658 (GRCm39) R345L probably damaging Het
Ccdc38 C T 10: 93,398,659 (GRCm39) Q46* probably null Het
Cdk12 T A 11: 98,115,379 (GRCm39) M840K unknown Het
Cfap251 A C 5: 123,460,511 (GRCm39) N1158H probably damaging Het
Col12a1 A T 9: 79,521,640 (GRCm39) N2772K probably benign Het
Dthd1 A G 5: 63,000,193 (GRCm39) D505G probably damaging Het
Elf1 C T 14: 79,798,226 (GRCm39) H38Y probably damaging Het
Gcnt2 T A 13: 41,072,173 (GRCm39) V272D probably damaging Het
Gm9964 T A 11: 79,187,420 (GRCm39) K9M unknown Het
Gpr155 A G 2: 73,204,341 (GRCm39) S158P possibly damaging Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hmcn2 T C 2: 31,225,463 (GRCm39) I124T probably damaging Het
Hydin A G 8: 111,324,543 (GRCm39) S4635G possibly damaging Het
Lrch2 C T X: 146,263,553 (GRCm39) A369T probably damaging Homo
Lrrc8c A G 5: 105,754,612 (GRCm39) Y129C probably damaging Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mcm3ap C G 10: 76,307,312 (GRCm39) Y418* probably null Het
Mpdz A G 4: 81,278,293 (GRCm39) L764P probably damaging Het
Myt1l A G 12: 29,877,627 (GRCm39) D426G unknown Het
Ndel1 C T 11: 68,727,101 (GRCm39) R192H probably damaging Het
Nudt21 T C 8: 94,755,506 (GRCm39) D134G probably damaging Het
Nup210l A T 3: 90,022,371 (GRCm39) H113L probably damaging Het
Nxf1 A G 19: 8,746,546 (GRCm39) K586E probably damaging Het
Or2ag15 T C 7: 106,340,613 (GRCm39) H176R probably damaging Het
Or4s2 A G 2: 88,473,624 (GRCm39) E171G possibly damaging Het
Osbpl8 A G 10: 111,108,099 (GRCm39) Y365C possibly damaging Het
Pkd2l2 A G 18: 34,560,497 (GRCm39) Y368C probably damaging Het
Pkn2 A G 3: 142,515,465 (GRCm39) F649L probably benign Het
Pla2g4a T C 1: 149,755,798 (GRCm39) Y205C probably damaging Het
Prex2 A G 1: 11,232,522 (GRCm39) N863S probably benign Het
Prkdc A G 16: 15,605,019 (GRCm39) K2979R probably benign Het
Ptk6 T C 2: 180,840,253 (GRCm39) Y251C probably damaging Het
Rapgef6 T A 11: 54,525,607 (GRCm39) W334R probably damaging Het
Rbm11 A T 16: 75,393,655 (GRCm39) probably null Het
Rhbdl1 A G 17: 26,053,943 (GRCm39) L309P probably damaging Het
Rhbg G A 3: 88,153,133 (GRCm39) R274* probably null Het
Rpp30 A G 19: 36,081,845 (GRCm39) *269W probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Homo
Slc44a1 A G 4: 53,561,099 (GRCm39) K605R probably damaging Het
Slco2a1 A G 9: 102,927,346 (GRCm39) S80G probably benign Het
Tmem50b A T 16: 91,380,164 (GRCm39) M71K probably damaging Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Tyro3 A G 2: 119,638,481 (GRCm39) T303A possibly damaging Het
Uba3 A T 6: 97,173,869 (GRCm39) D105E probably damaging Het
Vmn1r21 T C 6: 57,821,255 (GRCm39) D63G probably benign Het
Vstm2b T A 7: 40,549,533 (GRCm39) I63N probably damaging Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown Het
Zscan22 T A 7: 12,640,834 (GRCm39) C359* probably null 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
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'- TAGGCTCATGGGAATGACACC -3'
(R):5'- AAACATGACCGTGAGTCCCC -3'

Sequencing Primer
(F):5'- GCTCATGGGAATGACACCTTCAG -3'
(R):5'- TGGCCAAACTGAGATGGAGGC -3'
Posted On 2018-03-15