Incidental Mutation 'R7531:Arfgap2'
ID 585951
Institutional Source Beutler Lab
Gene Symbol Arfgap2
Ensembl Gene ENSMUSG00000027255
Gene Name ADP-ribosylation factor GTPase activating protein 2
Synonyms Zfp289, 2310032E02Rik
MMRRC Submission 045603-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.780) question?
Stock # R7531 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 91095319-91107276 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 91104089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000078920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028691] [ENSMUST00000064652] [ENSMUST00000080008] [ENSMUST00000094835] [ENSMUST00000102594]
AlphaFold Q99K28
Predicted Effect probably null
Transcript: ENSMUST00000028691
SMART Domains Protein: ENSMUSP00000028691
Gene: ENSMUSG00000027255

DomainStartEndE-ValueType
ArfGap 11 125 1.46e-44 SMART
low complexity region 227 246 N/A INTRINSIC
coiled coil region 254 321 N/A INTRINSIC
low complexity region 323 335 N/A INTRINSIC
Blast:ArfGap 370 434 6e-32 BLAST
low complexity region 468 476 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064652
Predicted Effect probably null
Transcript: ENSMUST00000080008
SMART Domains Protein: ENSMUSP00000078920
Gene: ENSMUSG00000027255

DomainStartEndE-ValueType
ArfGap 11 125 1.46e-44 SMART
low complexity region 213 232 N/A INTRINSIC
coiled coil region 240 307 N/A INTRINSIC
low complexity region 309 321 N/A INTRINSIC
internal_repeat_1 333 376 9.77e-5 PROSPERO
low complexity region 454 462 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094835
SMART Domains Protein: ENSMUSP00000092431
Gene: ENSMUSG00000040591

DomainStartEndE-ValueType
low complexity region 219 234 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102594
SMART Domains Protein: ENSMUSP00000099654
Gene: ENSMUSG00000040591

DomainStartEndE-ValueType
low complexity region 316 331 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: This gene encodes a zinc-finger-containing GTPase-activating protein for ADP ribosylation factor 1 (ARF1), a small GTPase that plays a role in coatomer-mediated vesicular trafficking. This gene product stimulates the hydrolysis of ARF1-bound GTP, which may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes. It may regulate the retrograde transport from the Golgi complex to the endoplasmic reticulum. Expression of this gene has been shown to be controlled by inhibitor of DNA binding 1 (Id1). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene was identified on chromosome 6. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,286,332 (GRCm39) T2501S probably damaging Het
Abcg3 A G 5: 105,125,507 (GRCm39) Y59H probably benign Het
Acsf2 G T 11: 94,464,057 (GRCm39) probably null Het
Adam25 T A 8: 41,206,914 (GRCm39) I60K probably damaging Het
Agrn A T 4: 156,254,261 (GRCm39) V1729E probably damaging Het
Aldh9a1 G A 1: 167,177,895 (GRCm39) V31I probably benign Het
Aqp5 T C 15: 99,489,180 (GRCm39) F10L possibly damaging Het
Asb7 T C 7: 66,328,884 (GRCm39) H52R probably damaging Het
Aspa G A 11: 73,204,351 (GRCm39) Q206* probably null Het
Bpgm A G 6: 34,481,223 (GRCm39) I207V possibly damaging Het
Brinp2 A G 1: 158,094,142 (GRCm39) S187P possibly damaging Het
Clec4e A G 6: 123,262,533 (GRCm39) F128S probably benign Het
Crisp3 A G 17: 40,545,629 (GRCm39) F82L probably benign Het
Cry2 A G 2: 92,243,350 (GRCm39) L497P probably damaging Het
Dcxr A G 11: 120,617,832 (GRCm39) V48A probably benign Het
Ddx11 A T 17: 66,445,214 (GRCm39) T379S probably benign Het
Depdc1a A C 3: 159,228,276 (GRCm39) T343P probably damaging Het
Dhx36 T C 3: 62,392,389 (GRCm39) I546V probably damaging Het
Fam114a2 A G 11: 57,404,542 (GRCm39) V74A probably benign Het
Fcgbpl1 T C 7: 27,839,656 (GRCm39) F490L probably benign Het
Flg2 A T 3: 93,108,177 (GRCm39) R68S probably damaging Het
Glb1l3 T C 9: 26,764,950 (GRCm39) I154V possibly damaging Het
Gm45844 T C 7: 7,243,185 (GRCm39) T22A probably benign Het
Gramd2a A T 9: 59,617,193 (GRCm39) I83F probably damaging Het
Hcn4 A G 9: 58,767,420 (GRCm39) T994A unknown Het
Hectd1 C T 12: 51,853,150 (GRCm39) V124I probably benign Het
Hmcn1 A T 1: 150,562,531 (GRCm39) D2342E probably benign Het
Hyal6 A T 6: 24,740,786 (GRCm39) H313L possibly damaging Het
Ifnab T A 4: 88,609,523 (GRCm39) probably benign Het
Keap1 A G 9: 21,148,623 (GRCm39) I128T probably benign Het
Kit T C 5: 75,767,700 (GRCm39) S28P probably damaging Het
Krtap5-3 T A 7: 141,755,942 (GRCm39) C260S unknown Het
Lepr T A 4: 101,609,372 (GRCm39) W320R probably damaging Het
Lmod3 A T 6: 97,225,403 (GRCm39) N139K probably benign Het
Marchf1 C G 8: 66,838,989 (GRCm39) S10R probably benign Het
Naa35 A T 13: 59,765,755 (GRCm39) K380* probably null Het
Npy1r C A 8: 67,157,546 (GRCm39) F285L probably damaging Het
Nr1h3 C T 2: 91,014,739 (GRCm39) R427H probably damaging Het
Or5p79 T A 7: 108,221,269 (GRCm39) N83K probably benign Het
Pate2 A G 9: 35,582,008 (GRCm39) probably null Het
Pcmt1 A G 10: 7,556,369 (GRCm39) probably null Het
Prg4 T G 1: 150,330,786 (GRCm39) E629A unknown Het
Rin2 T G 2: 145,700,419 (GRCm39) S199A probably benign Het
Ror1 T A 4: 100,298,388 (GRCm39) L587Q probably damaging Het
Rsl1 T A 13: 67,324,566 (GRCm39) C31S possibly damaging Het
Scn4a A G 11: 106,239,523 (GRCm39) probably null Het
Sema3a T C 5: 13,615,805 (GRCm39) Y410H probably damaging Het
Smpd5 T C 15: 76,180,539 (GRCm39) V447A probably benign Het
Tax1bp1 A T 6: 52,723,682 (GRCm39) D524V probably benign Het
Tesc A T 5: 118,197,523 (GRCm39) Y179F probably damaging Het
Tm9sf2 T C 14: 122,379,824 (GRCm39) S292P possibly damaging Het
Unc45b A G 11: 82,819,838 (GRCm39) D543G probably damaging Het
Usp4 T A 9: 108,249,879 (GRCm39) V469E probably damaging Het
Vmn1r10 T A 6: 57,090,924 (GRCm39) I172N possibly damaging Het
Zfyve16 A G 13: 92,659,473 (GRCm39) L146S probably damaging Het
Other mutations in Arfgap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0097:Arfgap2 UTSW 2 91,105,160 (GRCm39) missense probably benign 0.16
R0097:Arfgap2 UTSW 2 91,105,160 (GRCm39) missense probably benign 0.16
R0178:Arfgap2 UTSW 2 91,097,706 (GRCm39) missense probably benign 0.00
R0927:Arfgap2 UTSW 2 91,104,150 (GRCm39) missense probably benign 0.05
R1491:Arfgap2 UTSW 2 91,105,204 (GRCm39) missense probably damaging 1.00
R1693:Arfgap2 UTSW 2 91,100,420 (GRCm39) splice site probably null
R2091:Arfgap2 UTSW 2 91,100,586 (GRCm39) missense probably benign 0.02
R2199:Arfgap2 UTSW 2 91,096,037 (GRCm39) critical splice donor site probably null
R3772:Arfgap2 UTSW 2 91,095,711 (GRCm39) missense probably benign
R3922:Arfgap2 UTSW 2 91,105,150 (GRCm39) missense probably damaging 1.00
R3926:Arfgap2 UTSW 2 91,105,150 (GRCm39) missense probably damaging 1.00
R4707:Arfgap2 UTSW 2 91,100,316 (GRCm39) missense probably damaging 1.00
R4751:Arfgap2 UTSW 2 91,097,713 (GRCm39) missense probably benign 0.10
R4923:Arfgap2 UTSW 2 91,104,004 (GRCm39) missense probably damaging 1.00
R5249:Arfgap2 UTSW 2 91,095,982 (GRCm39) nonsense probably null
R5541:Arfgap2 UTSW 2 91,106,114 (GRCm39) missense probably benign 0.09
R5608:Arfgap2 UTSW 2 91,100,547 (GRCm39) missense probably damaging 1.00
R5626:Arfgap2 UTSW 2 91,105,737 (GRCm39) nonsense probably null
R6261:Arfgap2 UTSW 2 91,100,627 (GRCm39) missense probably benign 0.00
R6300:Arfgap2 UTSW 2 91,097,540 (GRCm39) missense probably benign 0.00
R6948:Arfgap2 UTSW 2 91,097,524 (GRCm39) missense probably benign 0.00
R8058:Arfgap2 UTSW 2 91,096,644 (GRCm39) critical splice donor site probably null
R8121:Arfgap2 UTSW 2 91,096,028 (GRCm39) missense probably benign 0.01
R8179:Arfgap2 UTSW 2 91,105,668 (GRCm39) missense probably damaging 1.00
R8825:Arfgap2 UTSW 2 91,103,906 (GRCm39) missense probably damaging 1.00
R8995:Arfgap2 UTSW 2 91,103,929 (GRCm39) missense probably damaging 1.00
Z1177:Arfgap2 UTSW 2 91,105,449 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- CTGTGCTGTCTGAGATGCAG -3'
(R):5'- CAGTGCAGCTGTCAATCATTTC -3'

Sequencing Primer
(F):5'- CAGATGATTGAGCAGGAAACCCC -3'
(R):5'- TGCATCAAGTTCTGCAGACAG -3'
Posted On 2019-10-18