Incidental Mutation 'R9010:Arfgef2'
ID 685549
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 068840-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.381) question?
Stock # R9010 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 166647508-166739972 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 166701284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 694 (R694Q)
Ref Sequence ENSEMBL: ENSMUSP00000096677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099078]
AlphaFold A2A5R2
Predicted Effect probably damaging
Transcript: ENSMUST00000099078
AA Change: R694Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096677
Gene: ENSMUSG00000074582
AA Change: R694Q

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency 100% (71/71)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,119,504 (GRCm39) M87K possibly damaging Het
Angel1 T C 12: 86,770,153 (GRCm39) S36G possibly damaging Het
Apol6 A G 15: 76,935,697 (GRCm39) H322R unknown Het
Bank1 A T 3: 135,761,559 (GRCm39) N748K probably benign Het
Bptf A T 11: 106,964,576 (GRCm39) D1539E probably damaging Het
Bst1 T C 5: 43,982,695 (GRCm39) I180T possibly damaging Het
Cabin1 C A 10: 75,570,892 (GRCm39) E795* probably null Het
Ccdc168 A G 1: 44,100,633 (GRCm39) V155A possibly damaging Het
Cckar T A 5: 53,857,163 (GRCm39) T416S probably damaging Het
Ccng2 G T 5: 93,416,616 (GRCm39) E46* probably null Het
Ceacam9 T C 7: 16,455,916 (GRCm39) S8P probably benign Het
Cercam G A 2: 29,766,071 (GRCm39) D317N possibly damaging Het
Cfap54 T A 10: 92,734,921 (GRCm39) M2377L unknown Het
Cgnl1 A T 9: 71,558,631 (GRCm39) L914H probably damaging Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Clec2g T A 6: 128,925,688 (GRCm39) F32L unknown Het
Cntnap5c A T 17: 58,671,159 (GRCm39) M1116L probably benign Het
Col11a2 C A 17: 34,283,760 (GRCm39) F1516L unknown Het
Crb2 A G 2: 37,680,698 (GRCm39) E542G probably benign Het
Crisp1 A T 17: 40,616,101 (GRCm39) probably benign Het
Crybg3 G A 16: 59,374,702 (GRCm39) T470M probably damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Eif1ad T A 19: 5,418,726 (GRCm39) V93D possibly damaging Het
Entpd3 T C 9: 120,384,825 (GRCm39) I134T probably benign Het
Garre1 A T 7: 33,938,491 (GRCm39) C1015S probably benign Het
Gm19410 A G 8: 36,282,011 (GRCm39) M1865V probably benign Het
Gpat2 A G 2: 127,277,146 (GRCm39) E728G probably benign Het
Heatr5b C A 17: 79,081,139 (GRCm39) S1371I probably damaging Het
Ighv1-4 A T 12: 114,450,949 (GRCm39) M53K possibly damaging Het
Itch A T 2: 155,020,991 (GRCm39) T169S probably benign Het
Kifc2 A G 15: 76,550,885 (GRCm39) N587S possibly damaging Het
Klk1b16 A T 7: 43,790,177 (GRCm39) D149V probably benign Het
Kndc1 C T 7: 139,507,708 (GRCm39) S1222F possibly damaging Het
Lefty2 T A 1: 180,722,172 (GRCm39) I170N probably damaging Het
Lrrc14b A G 13: 74,509,151 (GRCm39) F419L possibly damaging Het
Mkrn2 T A 6: 115,591,583 (GRCm39) V302E possibly damaging Het
Msh4 T C 3: 153,595,819 (GRCm39) K271R probably benign Het
Muc6 T C 7: 141,226,351 (GRCm39) T1559A unknown Het
Naa16 T G 14: 79,607,482 (GRCm39) R289S probably benign Het
Nab1 T A 1: 52,529,610 (GRCm39) I96F possibly damaging Het
Ntn4 T C 10: 93,480,506 (GRCm39) C77R Het
Nusap1 A G 2: 119,479,456 (GRCm39) T424A possibly damaging Het
Or1p1 G T 11: 74,180,305 (GRCm39) V278F probably damaging Het
Or2w6 A G 13: 21,842,681 (GRCm39) Y271H probably damaging Het
Or4e2 T A 14: 52,688,556 (GRCm39) S229T possibly damaging Het
Otog A G 7: 45,949,894 (GRCm39) D267G probably benign Het
P2ry2 A C 7: 100,647,358 (GRCm39) F316V probably benign Het
Padi2 A G 4: 140,663,924 (GRCm39) T426A probably damaging Het
Pakap A T 4: 57,883,192 (GRCm39) D845V probably damaging Het
Plxna2 T C 1: 194,471,217 (GRCm39) F996S possibly damaging Het
Ppp4r3a T C 12: 101,024,591 (GRCm39) M303V possibly damaging Het
Prelid2 A T 18: 42,065,781 (GRCm39) W85R probably damaging Het
Rabep1 G A 11: 70,810,034 (GRCm39) R532H probably damaging Het
Rabgap1l G A 1: 160,528,443 (GRCm39) R388W possibly damaging Het
Rad51ap2 G T 12: 11,508,675 (GRCm39) V866L probably benign Het
Rassf3 C A 10: 121,311,991 (GRCm39) E9* probably null Het
Rbbp4 A C 4: 129,216,180 (GRCm39) L189R probably benign Het
Rims2 T A 15: 39,315,786 (GRCm39) C597* probably null Het
Rrp12 T A 19: 41,871,929 (GRCm39) I452F probably benign Het
Snx29 G A 16: 11,449,391 (GRCm39) A279T probably benign Het
Tdh C T 14: 63,737,704 (GRCm39) S17N probably benign Het
Tgm5 T C 2: 120,879,371 (GRCm39) D555G possibly damaging Het
Thbs1 A C 2: 117,953,045 (GRCm39) D885A probably damaging Het
Tmprss9 C A 10: 80,733,701 (GRCm39) A921E unknown Het
Trrap T A 5: 144,783,226 (GRCm39) F3340I probably damaging Het
Vmn1r72 A T 7: 11,404,145 (GRCm39) M101K possibly damaging Het
Vmn2r117 A G 17: 23,679,445 (GRCm39) L593P probably benign Het
Washc2 G A 6: 116,198,823 (GRCm39) G295E probably damaging Het
Zfp273 A T 13: 67,974,177 (GRCm39) H435L probably damaging Het
Zfp395 A G 14: 65,623,948 (GRCm39) E139G possibly damaging Het
Zfp512b G A 2: 181,230,011 (GRCm39) A552V 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
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
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'- TGACAGCTTCTTCATGGCGC -3'
(R):5'- CAGAGAGCAGCTTCTAGTTCTC -3'

Sequencing Primer
(F):5'- ATAACTGCTTTCCCCAGATGCTAG -3'
(R):5'- GAGCAGCTTCTAGTTCTCCCTCG -3'
Posted On 2021-10-11