Incidental Mutation 'R2084:Arfgap3'
ID 230228
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 040089-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # R2084 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 83183940-83234448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83218767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 102 (N102I)
Ref Sequence ENSEMBL: ENSMUSP00000154712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067215] [ENSMUST00000226124]
AlphaFold Q9D8S3
Predicted Effect probably damaging
Transcript: ENSMUST00000067215
AA Change: N102I

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000064893
Gene: ENSMUSG00000054277
AA Change: N102I

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: N102I

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227511
Meta Mutation Damage Score 0.3247 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 C T 11: 5,612,378 (GRCm39) Q1237* probably null Het
Aph1c T G 9: 66,726,579 (GRCm39) R258S probably damaging Het
Astn1 T C 1: 158,299,978 (GRCm39) V106A probably damaging Het
BC005537 G T 13: 24,996,698 (GRCm39) probably null Het
Card10 G A 15: 78,677,171 (GRCm39) T412M possibly damaging Het
Cars1 T C 7: 143,140,919 (GRCm39) I126M probably benign Het
Cfap20dc T C 14: 8,558,171 (GRCm38) D138G probably damaging Het
Col11a1 C T 3: 113,951,791 (GRCm39) R1074C probably damaging Het
Cpped1 T C 16: 11,646,365 (GRCm39) D153G probably damaging Het
Cyp2j11 T A 4: 96,227,438 (GRCm39) I193F probably damaging Het
Dnm2 T C 9: 21,411,667 (GRCm39) probably null Het
Efemp1 A G 11: 28,865,763 (GRCm39) D288G probably damaging Het
Espl1 T C 15: 102,205,286 (GRCm39) probably null Het
Fcgbpl1 G A 7: 27,856,960 (GRCm39) V2103M probably damaging Het
Fcrl5 T C 3: 87,351,537 (GRCm39) F262L probably benign Het
Gh G A 11: 106,191,958 (GRCm39) P84L probably damaging Het
Gm10267 T C 18: 44,290,397 (GRCm39) R37G probably benign Het
Hmgxb3 C T 18: 61,288,095 (GRCm39) probably benign Het
Ifit2 T C 19: 34,550,750 (GRCm39) W97R probably damaging Het
Ift81 T G 5: 122,705,410 (GRCm39) K491Q probably benign Het
Ints8 A G 4: 11,230,377 (GRCm39) V488A probably benign Het
Krba1 T A 6: 48,391,502 (GRCm39) L797Q probably damaging Het
Krr1 T C 10: 111,812,690 (GRCm39) V100A probably damaging Het
Nav1 C T 1: 135,535,158 (GRCm39) probably benign Het
Nos1 C A 5: 118,081,310 (GRCm39) Q1205K probably damaging Het
Nup85 A T 11: 115,459,517 (GRCm39) D125V possibly damaging Het
Or5ak23 T C 2: 85,244,959 (GRCm39) E88G probably benign Het
Pclo T G 5: 14,732,162 (GRCm39) S3555A probably benign Het
Pdzrn3 T C 6: 101,131,256 (GRCm39) I473V probably benign Het
Polr1a A G 6: 71,927,793 (GRCm39) E848G possibly damaging Het
Pop1 T C 15: 34,508,744 (GRCm39) probably benign Het
Pramel23 T A 4: 143,425,920 (GRCm39) T8S probably damaging Het
Prpf3 C T 3: 95,756,301 (GRCm39) E117K probably benign Het
Psmg3 C T 5: 139,809,744 (GRCm39) V101M probably benign Het
Rexo1 G A 10: 80,397,100 (GRCm39) S52L probably benign Het
Ryk C T 9: 102,752,971 (GRCm39) T210M probably damaging Het
Sde2 A G 1: 180,690,198 (GRCm39) E306G probably damaging Het
Sec24c A G 14: 20,741,347 (GRCm39) Q658R probably benign Het
Sgsm1 G A 5: 113,433,266 (GRCm39) T183I probably damaging Het
Skint7 T A 4: 111,837,375 (GRCm39) V51E probably damaging Het
Slc6a5 T A 7: 49,598,002 (GRCm39) M622K probably benign Het
Slco1a5 T C 6: 142,180,437 (GRCm39) H655R probably benign Het
Slco1c1 T A 6: 141,505,578 (GRCm39) Y452* probably null Het
Spn T C 7: 126,736,210 (GRCm39) E99G probably benign Het
Ssc5d A G 7: 4,940,011 (GRCm39) I789V probably benign Het
Taok2 G A 7: 126,469,363 (GRCm39) T1155I probably benign Het
Tet2 T C 3: 133,193,528 (GRCm39) Q302R possibly damaging Het
Trmt1l A G 1: 151,316,605 (GRCm39) T189A probably damaging Het
Tubal3 T C 13: 3,978,192 (GRCm39) I36T possibly damaging Het
Vmn2r71 A T 7: 85,267,945 (GRCm39) Y133F probably benign Het
Vps11 G T 9: 44,264,558 (GRCm39) H673N probably benign Het
Zc3h12a C T 4: 125,013,802 (GRCm39) S354N probably benign Het
Zfp2 A G 11: 50,791,789 (GRCm39) S85P probably benign 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
R0557:Arfgap3 UTSW 15 83,187,386 (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
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'- AATTGACAAAGCAGAGCCCTTC -3'
(R):5'- TCTCGAAAGGGAAGTTTACTTTAGACC -3'

Sequencing Primer
(F):5'- AGAGCCCTTCTCATCACGAGG -3'
(R):5'- AGACCTTCTATGCTGTCTAGTTAG -3'
Posted On 2014-09-18