Incidental Mutation 'R0557:Arfgap3'
ID 45676
Institutional Source Beutler Lab
Gene Symbol Arfgap3
Ensembl Gene ENSMUSG00000054277
Gene Name ADP-ribosylation factor GTPase activating protein 3
Synonyms 1810035F16Rik, 1810004P07Rik, 9130416J18Rik, 0610009H19Rik
MMRRC Submission 038749-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # R0557 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 83183940-83234448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83187386 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 491 (D491G)
Ref Sequence ENSEMBL: ENSMUSP00000154712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067215] [ENSMUST00000226124] [ENSMUST00000226764]
AlphaFold Q9D8S3
Predicted Effect probably damaging
Transcript: ENSMUST00000067215
AA Change: D492G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064893
Gene: ENSMUSG00000054277
AA Change: D492G

DomainStartEndE-ValueType
ArfGap 10 126 7.18e-44 SMART
Blast:ArfGap 160 200 2e-6 BLAST
low complexity region 220 237 N/A INTRINSIC
low complexity region 348 362 N/A INTRINSIC
low complexity region 459 466 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000226124
AA Change: D491G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226411
Predicted Effect possibly damaging
Transcript: ENSMUST00000226764
AA Change: D44G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226816
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik G A 10: 78,903,519 (GRCm39) H266Y probably damaging Het
Abi3bp C T 16: 56,488,750 (GRCm39) R1294C probably damaging Het
Acot3 T C 12: 84,105,630 (GRCm39) Y366H probably damaging Het
Ago1 A G 4: 126,353,817 (GRCm39) V254A probably benign Het
Ahnak T A 19: 8,979,308 (GRCm39) D197E probably benign Het
Aldh1b1 A T 4: 45,802,647 (GRCm39) T62S probably benign Het
Alox12e T C 11: 70,212,274 (GRCm39) R135G possibly damaging Het
Amn1 T C 6: 149,072,503 (GRCm39) Y78C possibly damaging Het
Ankmy2 G A 12: 36,237,765 (GRCm39) S288N probably benign Het
Ano3 A T 2: 110,693,297 (GRCm39) probably null Het
Arhgap15 T C 2: 44,006,629 (GRCm39) S249P possibly damaging Het
Atp9b A G 18: 80,809,137 (GRCm39) V211A probably damaging Het
Cabin1 A G 10: 75,562,751 (GRCm39) Y12H probably damaging Het
Cdkn2aip T C 8: 48,165,977 (GRCm39) T110A probably damaging Het
Cemip2 C T 19: 21,789,267 (GRCm39) A567V probably benign Het
Chchd6 A G 6: 89,551,569 (GRCm39) S31P probably damaging Het
Chrna3 A G 9: 54,923,149 (GRCm39) Y220H probably damaging Het
Ctu1 A G 7: 43,326,583 (GRCm39) D414G unknown Het
Cxxc1 C T 18: 74,351,845 (GRCm39) R241W possibly damaging Het
Cyp3a16 A G 5: 145,406,398 (GRCm39) I18T unknown Het
Dip2c A T 13: 9,603,495 (GRCm39) I405F possibly damaging Het
Disp3 A T 4: 148,325,861 (GRCm39) M1299K possibly damaging Het
Dnah9 T G 11: 65,975,492 (GRCm39) H1519P probably damaging Het
Ehd3 C A 17: 74,136,928 (GRCm39) Q366K probably benign Het
Exosc3 A T 4: 45,316,957 (GRCm39) M232K probably damaging Het
Fancm T C 12: 65,165,216 (GRCm39) probably null Het
Fgfr2 A G 7: 129,820,811 (GRCm39) V241A probably damaging Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Hars2 T C 18: 36,924,130 (GRCm39) I489T possibly damaging Het
Ice1 T C 13: 70,749,310 (GRCm39) I1945V probably benign Het
Il33 A C 19: 29,932,036 (GRCm39) N143T probably damaging Het
Ilvbl G A 10: 78,419,321 (GRCm39) W313* probably null Het
Insyn2a A G 7: 134,520,434 (GRCm39) L32P probably damaging Het
Isca1 G T 13: 59,904,788 (GRCm39) Q91K possibly damaging Het
Kcnh5 T A 12: 75,161,323 (GRCm39) Y195F probably damaging Het
Lama4 T G 10: 38,964,393 (GRCm39) I1355S probably benign Het
Lonrf1 T C 8: 36,697,574 (GRCm39) D470G probably benign Het
Mak A G 13: 41,193,135 (GRCm39) Y446H probably benign Het
Mki67 C T 7: 135,300,990 (GRCm39) S1348N possibly damaging Het
Mpzl3 A G 9: 44,977,806 (GRCm39) Y138C probably damaging Het
Myh8 T C 11: 67,192,624 (GRCm39) L1501P possibly damaging Het
Naa35 A G 13: 59,775,778 (GRCm39) E552G probably damaging Het
Ncor2 A T 5: 125,183,369 (GRCm39) L200* probably null Het
Nrm T C 17: 36,175,524 (GRCm39) V210A probably damaging Het
Nt5e T A 9: 88,248,519 (GRCm39) N405K probably damaging Het
Or1j4 T A 2: 36,740,760 (GRCm39) I234N possibly damaging Het
Or1o11 T A 17: 37,756,712 (GRCm39) I100N probably damaging Het
Orc2 T C 1: 58,508,846 (GRCm39) S434G probably damaging Het
Plcb4 G A 2: 135,796,269 (GRCm39) V388I probably damaging Het
Ppm1l A G 3: 69,405,234 (GRCm39) D177G probably benign Het
Prl8a2 A T 13: 27,536,875 (GRCm39) R165* probably null Het
Ptbp3 G A 4: 59,517,684 (GRCm39) R66* probably null Het
Pten A G 19: 32,795,290 (GRCm39) T286A probably benign Het
Rac2 C T 15: 78,449,174 (GRCm39) V113M probably damaging Het
Rai1 C T 11: 60,081,321 (GRCm39) T1795I probably benign Het
Ros1 T G 10: 51,961,359 (GRCm39) K1792Q possibly damaging Het
Sema6a A G 18: 47,382,567 (GRCm39) V660A probably benign Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Slc26a5 A G 5: 22,024,762 (GRCm39) S441P probably damaging Het
Slc27a3 A G 3: 90,294,163 (GRCm39) L462P probably damaging Het
Spag5 T A 11: 78,205,037 (GRCm39) S607R probably damaging Het
Spata18 A T 5: 73,809,013 (GRCm39) N29Y probably damaging Het
Spata20 C T 11: 94,376,048 (GRCm39) R22H probably benign Het
Spsb2 A C 6: 124,787,355 (GRCm39) Y263S probably damaging Het
Sptbn4 C A 7: 27,107,753 (GRCm39) E885* probably null Het
Syne2 T C 12: 75,976,075 (GRCm39) I1175T probably benign Het
Tmem209 A C 6: 30,501,913 (GRCm39) H253Q probably damaging Het
Trip12 A T 1: 84,702,468 (GRCm39) D788E probably damaging Het
Usp34 T C 11: 23,353,848 (GRCm39) S1509P probably damaging Het
Utp20 A T 10: 88,584,173 (GRCm39) D2661E probably damaging Het
Vars1 C A 17: 35,223,960 (GRCm39) P264Q possibly damaging Het
Vmn2r66 T G 7: 84,643,972 (GRCm39) S813R probably damaging Het
Wipf2 C A 11: 98,782,915 (GRCm39) Q114K possibly damaging Het
Wnt5b G T 6: 119,410,779 (GRCm39) H220Q probably damaging Het
Xirp2 A G 2: 67,346,695 (GRCm39) T2979A probably benign Het
Zfyve9 A G 4: 108,531,708 (GRCm39) V408A probably damaging Het
Zzef1 T C 11: 72,808,556 (GRCm39) S2744P probably damaging Het
Other mutations in Arfgap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Arfgap3 APN 15 83,206,790 (GRCm39) missense probably benign 0.04
IGL01306:Arfgap3 APN 15 83,197,710 (GRCm39) missense possibly damaging 0.78
IGL01960:Arfgap3 APN 15 83,197,758 (GRCm39) missense probably benign 0.04
IGL03029:Arfgap3 APN 15 83,206,851 (GRCm39) missense probably damaging 1.00
IGL03036:Arfgap3 APN 15 83,191,127 (GRCm39) missense possibly damaging 0.91
IGL03328:Arfgap3 APN 15 83,227,282 (GRCm39) missense probably damaging 1.00
ANU23:Arfgap3 UTSW 15 83,197,710 (GRCm39) missense possibly damaging 0.78
R0103:Arfgap3 UTSW 15 83,206,922 (GRCm39) splice site probably benign
R0103:Arfgap3 UTSW 15 83,206,922 (GRCm39) splice site probably benign
R0125:Arfgap3 UTSW 15 83,227,340 (GRCm39) missense probably benign 0.01
R0243:Arfgap3 UTSW 15 83,214,714 (GRCm39) splice site probably benign
R0551:Arfgap3 UTSW 15 83,227,338 (GRCm39) missense probably damaging 1.00
R0638:Arfgap3 UTSW 15 83,192,389 (GRCm39) splice site probably null
R1115:Arfgap3 UTSW 15 83,214,741 (GRCm39) missense probably benign 0.00
R1459:Arfgap3 UTSW 15 83,191,138 (GRCm39) missense probably benign 0.15
R1576:Arfgap3 UTSW 15 83,197,764 (GRCm39) missense possibly damaging 0.94
R1776:Arfgap3 UTSW 15 83,227,340 (GRCm39) missense probably benign 0.01
R1826:Arfgap3 UTSW 15 83,187,303 (GRCm39) critical splice donor site probably null
R2057:Arfgap3 UTSW 15 83,194,501 (GRCm39) missense probably benign
R2084:Arfgap3 UTSW 15 83,218,767 (GRCm39) missense probably damaging 0.96
R3407:Arfgap3 UTSW 15 83,206,808 (GRCm39) missense probably benign 0.00
R4072:Arfgap3 UTSW 15 83,187,330 (GRCm39) missense probably damaging 1.00
R4074:Arfgap3 UTSW 15 83,187,330 (GRCm39) missense probably damaging 1.00
R4206:Arfgap3 UTSW 15 83,206,869 (GRCm39) missense probably benign
R4449:Arfgap3 UTSW 15 83,218,759 (GRCm39) missense probably damaging 1.00
R5004:Arfgap3 UTSW 15 83,194,497 (GRCm39) missense possibly damaging 0.87
R5193:Arfgap3 UTSW 15 83,216,898 (GRCm39) missense probably benign 0.01
R5364:Arfgap3 UTSW 15 83,198,562 (GRCm39) missense probably damaging 1.00
R6142:Arfgap3 UTSW 15 83,234,328 (GRCm39) missense probably damaging 1.00
R6813:Arfgap3 UTSW 15 83,214,794 (GRCm39) missense probably benign 0.00
R7154:Arfgap3 UTSW 15 83,220,905 (GRCm39) missense probably damaging 1.00
R7422:Arfgap3 UTSW 15 83,191,150 (GRCm39) missense probably damaging 0.97
R7582:Arfgap3 UTSW 15 83,187,302 (GRCm39) missense possibly damaging 0.77
R7714:Arfgap3 UTSW 15 83,192,352 (GRCm39) missense probably benign 0.34
R8269:Arfgap3 UTSW 15 83,194,542 (GRCm39) missense probably benign 0.01
R9352:Arfgap3 UTSW 15 83,191,127 (GRCm39) missense possibly damaging 0.82
R9712:Arfgap3 UTSW 15 83,197,734 (GRCm39) missense probably benign 0.02
R9729:Arfgap3 UTSW 15 83,192,366 (GRCm39) missense probably damaging 1.00
Z1177:Arfgap3 UTSW 15 83,216,889 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCATGATGCCTGGTCCGCTCTG -3'
(R):5'- GCACCTGGTGACCTGACTACAAC -3'

Sequencing Primer
(F):5'- GCAGCACAGCTCCCGAG -3'
(R):5'- TGGTGACCTGACTACAACAGTTC -3'
Posted On 2013-06-11