Incidental Mutation 'R5378:Arfgef2'
ID 425675
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 042953-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.381) question?
Stock # R5378 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 166647508-166739972 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 166715548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1331 (V1331D)
Ref Sequence ENSEMBL: ENSMUSP00000096677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099078]
AlphaFold A2A5R2
Predicted Effect probably damaging
Transcript: ENSMUST00000099078
AA Change: V1331D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096677
Gene: ENSMUSG00000074582
AA Change: V1331D

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,396,141 (GRCm39) F39L probably benign Het
Abca2 T G 2: 25,336,080 (GRCm39) L2150R probably damaging Het
Apob T A 12: 8,061,865 (GRCm39) V3449D probably damaging Het
Bora A G 14: 99,305,929 (GRCm39) N433D probably damaging Het
Cand2 G A 6: 115,778,912 (GRCm39) A1159T probably benign Het
Ccser1 C T 6: 61,288,650 (GRCm39) A271V probably benign Het
Ccser2 G A 14: 36,601,391 (GRCm39) T331I possibly damaging Het
Cemip A G 7: 83,607,733 (GRCm39) S758P probably damaging Het
Cenpf C T 1: 189,385,663 (GRCm39) V2206I possibly damaging Het
Chrnb1 A T 11: 69,676,007 (GRCm39) S412T probably benign Het
Cks1b A C 3: 89,323,608 (GRCm39) W54G probably damaging Het
Col5a3 C T 9: 20,708,872 (GRCm39) V630M unknown Het
Dnajb14 A G 3: 137,591,139 (GRCm39) D30G probably benign Het
Dpp8 T C 9: 64,985,296 (GRCm39) Y785H probably damaging Het
Dsel T A 1: 111,790,551 (GRCm39) probably benign Het
Dzip1 C T 14: 119,148,805 (GRCm39) M291I probably damaging Het
Esp8 G A 17: 40,841,033 (GRCm39) C98Y unknown Het
F11 C A 8: 45,705,180 (GRCm39) M120I probably benign Het
Fsip2 T C 2: 82,820,185 (GRCm39) F5306S possibly damaging Het
Gm4841 T C 18: 60,404,113 (GRCm39) probably null Het
Gpr180 T A 14: 118,377,251 (GRCm39) L84Q probably benign Het
Grwd1 A T 7: 45,479,505 (GRCm39) D123E probably benign Het
Hsfy2 T C 1: 56,675,827 (GRCm39) R237G probably benign Het
Htr5a A G 5: 28,055,993 (GRCm39) Y328C probably damaging Het
Klrb1f G A 6: 129,030,794 (GRCm39) A127T probably damaging Het
Mcpt4 A T 14: 56,299,750 (GRCm39) probably null Het
Muc5b T C 7: 141,415,940 (GRCm39) V2962A unknown Het
Or52s19 T A 7: 103,007,652 (GRCm39) I250F probably damaging Het
Or5t15 A T 2: 86,681,807 (GRCm39) N78K probably benign Het
Otog A T 7: 45,904,428 (GRCm39) T518S probably damaging Het
Phgdh A T 3: 98,228,639 (GRCm39) probably null Het
Pip5kl1 A T 2: 32,469,106 (GRCm39) T213S probably benign Het
Plekhg2 G A 7: 28,062,094 (GRCm39) R594W probably damaging Het
Prg4 T A 1: 150,330,977 (GRCm39) probably benign Het
Prpf40a T A 2: 53,035,888 (GRCm39) D621V probably damaging Het
Ptgr3 G A 18: 84,112,803 (GRCm39) A160T probably damaging Het
Ptprz1 A T 6: 23,007,401 (GRCm39) I1655F probably damaging Het
Rbm28 T C 6: 29,128,558 (GRCm39) K55E probably damaging Het
Rbm43 A T 2: 51,815,633 (GRCm39) V196E probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serinc4 T A 2: 121,282,861 (GRCm39) M434L possibly damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc35f1 A T 10: 52,567,157 (GRCm39) H22L possibly damaging Het
Smg6 A G 11: 74,932,820 (GRCm39) D98G possibly damaging Het
Strbp A G 2: 37,489,186 (GRCm39) Y527H probably damaging Het
Strbp A G 2: 37,490,818 (GRCm39) V479A probably benign Het
Tdg G T 10: 82,477,305 (GRCm39) V119L probably benign Het
Trav10d G A 14: 53,048,825 (GRCm39) R72H probably benign Het
Trgc2 T C 13: 19,489,297 (GRCm39) Y145C unknown Het
Trim25 T C 11: 88,900,093 (GRCm39) L280P probably damaging Het
Tsc22d4 A G 5: 137,760,726 (GRCm39) D49G probably damaging Het
Ttn T C 2: 76,720,534 (GRCm39) probably benign Het
Tyr T A 7: 87,121,703 (GRCm39) H363L probably damaging Het
Ubr5 A G 15: 37,989,822 (GRCm39) S2020P probably damaging Het
Usp9y T C Y: 1,315,928 (GRCm39) D2069G probably damaging Het
Vmn1r170 T C 7: 23,305,963 (GRCm39) W122R probably benign Het
Wdr7 G A 18: 63,958,310 (GRCm39) probably null Het
Ylpm1 T A 12: 85,077,029 (GRCm39) H793Q probably damaging Het
Zfp266 G A 9: 20,410,659 (GRCm39) T506I probably damaging Het
Zfp518a T C 19: 40,904,300 (GRCm39) S1410P 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
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'- TCTAGACTTCGGAAGAGAGTTTGG -3'
(R):5'- CAAACATGACCGTGAGTCCC -3'

Sequencing Primer
(F):5'- TTGGGAAAAGATTGTCTAGAGCCTC -3'
(R):5'- TGGCCAAACTGAGATGGAGGC -3'
Posted On 2016-08-04