Incidental Mutation 'R5537:Arfgef2'
ID 434864
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 043095-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.381) question?
Stock # R5537 (G1)
Quality Score 184
Status Not validated
Chromosome 2
Chromosomal Location 166647508-166739972 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) G to T at 166698513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099078]
AlphaFold A2A5R2
Predicted Effect probably null
Transcript: ENSMUST00000099078
SMART Domains Protein: ENSMUSP00000096677
Gene: ENSMUSG00000074582

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: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 9,005,485 (GRCm39) I1123F probably damaging Het
Acsl3 C T 1: 78,684,073 (GRCm39) R702C probably damaging Het
Ank1 A G 8: 23,604,892 (GRCm39) E1031G probably damaging Het
Ankle2 T C 5: 110,397,361 (GRCm39) S536P probably damaging Het
Bahd1 G T 2: 118,746,461 (GRCm39) D27Y probably damaging Het
Brinp2 C T 1: 158,082,583 (GRCm39) V246I probably damaging Het
Ccdc187 C A 2: 26,166,237 (GRCm39) A731S probably benign Het
Cdc37l1 T A 19: 28,972,518 (GRCm39) N70K probably damaging Het
Cdk5r1 A G 11: 80,368,825 (GRCm39) Y164C probably damaging Het
Clrn3 A T 7: 135,115,791 (GRCm39) H186Q probably benign Het
Col12a1 G A 9: 79,606,872 (GRCm39) T517I probably damaging Het
Crhr1 T A 11: 104,054,682 (GRCm39) N98K possibly damaging Het
Dst C T 1: 34,228,959 (GRCm39) S2362L probably benign Het
Eapp G A 12: 54,738,844 (GRCm39) T98I probably benign Het
Iqsec3 T C 6: 121,389,603 (GRCm39) probably benign Het
Kctd12 A G 14: 103,219,713 (GRCm39) V55A probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lgr5 T C 10: 115,292,594 (GRCm39) D432G probably benign Het
Mrgprx1 T A 7: 47,670,898 (GRCm39) H283L probably benign Het
Nlrp4e T C 7: 23,019,914 (GRCm39) F134L probably benign Het
Or1e34 T C 11: 73,778,523 (GRCm39) K225R probably benign Het
Or4f14b A T 2: 111,775,393 (GRCm39) M136K probably damaging Het
Or5m5 T A 2: 85,814,570 (GRCm39) Y129N possibly damaging Het
Or8b43 T A 9: 38,360,538 (GRCm39) Y123* probably null Het
Pfkp C A 13: 6,669,278 (GRCm39) W235L probably damaging Het
Prom1 C T 5: 44,158,118 (GRCm39) probably null Het
Psma5-ps A G 10: 85,149,913 (GRCm39) noncoding transcript Het
Rab14 A T 2: 35,082,649 (GRCm39) F12L possibly damaging Het
Rnf40 T A 7: 127,195,261 (GRCm39) I429N probably benign Het
S100pbp G A 4: 129,075,981 (GRCm39) P115S probably benign Het
Scarf1 G A 11: 75,416,357 (GRCm39) A600T probably damaging Het
Slc6a5 T C 7: 49,609,059 (GRCm39) F755L probably benign Het
Slc7a2 A T 8: 41,367,023 (GRCm39) I510F probably benign Het
Spag16 T C 1: 69,866,175 (GRCm39) S5P probably benign Het
Tex15 A G 8: 34,061,641 (GRCm39) Y631C probably damaging Het
Tmem182 A T 1: 40,894,069 (GRCm39) I195F probably benign Het
Tox A G 4: 6,697,510 (GRCm39) L431P probably damaging Het
Tprn G A 2: 25,153,369 (GRCm39) A224T probably benign Het
Tsg101 T C 7: 46,540,876 (GRCm39) K294E probably benign Het
Tubb2a C A 13: 34,259,434 (GRCm39) V119L probably benign Het
Vps37d C T 5: 135,103,256 (GRCm39) E129K possibly damaging Het
Zfp974 TAATCTGTCTCCAAATCTG TAATCTG 7: 27,611,671 (GRCm39) probably benign Het
Zpld1 A G 16: 55,054,003 (GRCm39) V263A possibly 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
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'- GCTCCCAGATCAGGAAATGG -3'
(R):5'- AGGAAATCAAGGCCTGCTG -3'

Sequencing Primer
(F):5'- CCCAGATCAGGAAATGGGGGAC -3'
(R):5'- ATCAAGGCCTGCTGAGTTAC -3'
Posted On 2016-10-24