Incidental Mutation 'R5541:Arfgap2'
ID 435943
Institutional Source Beutler Lab
Gene Symbol Arfgap2
Ensembl Gene ENSMUSG00000027255
Gene Name ADP-ribosylation factor GTPase activating protein 2
Synonyms Zfp289, 2310032E02Rik
MMRRC Submission 043099-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.797) question?
Stock # R5541 (G1)
Quality Score 112
Status Validated
Chromosome 2
Chromosomal Location 91095319-91107276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 91106114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 530 (R530H)
Ref Sequence ENSEMBL: ENSMUSP00000028691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028691] [ENSMUST00000064652] [ENSMUST00000080008] [ENSMUST00000094835] [ENSMUST00000102594]
AlphaFold Q99K28
Predicted Effect probably benign
Transcript: ENSMUST00000028691
AA Change: R530H

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000028691
Gene: ENSMUSG00000027255
AA Change: R530H

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 benign
Transcript: ENSMUST00000080008
AA Change: R516H

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000078920
Gene: ENSMUSG00000027255
AA Change: R516H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146228
Meta Mutation Damage Score 0.1287 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.2%
Validation Efficiency 100% (63/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,061,808 (GRCm39) K86R probably benign Het
Abca13 T C 11: 9,241,545 (GRCm39) V1136A probably benign Het
Arhgap30 T C 1: 171,231,707 (GRCm39) probably null Het
Asb7 T C 7: 66,329,017 (GRCm39) R8G probably benign Het
Bod1l T C 5: 41,949,276 (GRCm39) N2949D probably benign Het
Ccdc86 T C 19: 10,925,918 (GRCm39) E227G probably damaging Het
Cercam A G 2: 29,765,641 (GRCm39) D261G probably benign Het
Chd9 A T 8: 91,778,132 (GRCm39) E2714D probably benign Het
Dcp1a T A 14: 30,224,796 (GRCm39) S126R probably damaging Het
Defa17 T A 8: 22,146,565 (GRCm39) C64S probably damaging Het
Depdc5 A T 5: 33,021,973 (GRCm39) probably benign Het
Dhx29 A G 13: 113,076,908 (GRCm39) N259S possibly damaging Het
Dnah6 A T 6: 73,169,971 (GRCm39) L323Q possibly damaging Het
Dnah9 T C 11: 66,036,162 (GRCm39) Y416C probably damaging Het
Faap100 T A 11: 120,268,458 (GRCm39) E105V possibly damaging Het
Fbxw15 T G 9: 109,394,498 (GRCm39) I106L probably benign Het
Flacc1 A G 1: 58,697,588 (GRCm39) M384T probably benign Het
Gm10610 A G 7: 83,198,614 (GRCm39) noncoding transcript Het
Gpr22 A G 12: 31,759,348 (GRCm39) F258S probably damaging Het
Grip1 A T 10: 119,908,623 (GRCm39) I618F probably damaging Het
Hspg2 C T 4: 137,247,862 (GRCm39) T1233I probably damaging Het
Hspg2 C A 4: 137,270,136 (GRCm39) Q2365K probably benign Het
Intu A G 3: 40,647,017 (GRCm39) probably null Het
Kdm1b T C 13: 47,232,672 (GRCm39) M714T probably damaging Het
Kif21a A G 15: 90,852,316 (GRCm39) M924T probably damaging Het
Klb A T 5: 65,536,577 (GRCm39) M636L probably benign Het
Klrb1a G A 6: 128,586,699 (GRCm39) H219Y probably benign Het
Macroh2a2 T C 10: 61,583,496 (GRCm39) I215V probably benign Het
Marchf10 C T 11: 105,280,957 (GRCm39) D443N probably damaging Het
Nos1 A G 5: 118,043,459 (GRCm39) E578G probably damaging Het
Or8b39 T C 9: 37,996,419 (GRCm39) C96R probably damaging Het
Or9i1 T C 19: 13,839,328 (GRCm39) I57T probably benign Het
Pard3b A G 1: 61,678,502 (GRCm39) Y34C probably damaging Het
Pcdh17 T A 14: 84,684,856 (GRCm39) V441E probably damaging Het
Pde6g A T 11: 120,338,998 (GRCm39) I64N probably damaging Het
Pdia4 C T 6: 47,773,571 (GRCm39) V593M probably damaging Het
Pnn T G 12: 59,118,716 (GRCm39) V433G possibly damaging Het
Rbak G A 5: 143,159,745 (GRCm39) S436F probably damaging Het
Rpl11 A G 4: 135,780,043 (GRCm39) probably benign Het
Ryr1 G T 7: 28,785,610 (GRCm39) Q1701K probably damaging Het
Scn1a T A 2: 66,154,977 (GRCm39) T661S probably benign Het
Smg1 T A 7: 117,756,386 (GRCm39) probably benign Het
St8sia2 T C 7: 73,616,648 (GRCm39) D109G probably benign Het
Stk-ps1 T A 17: 36,709,105 (GRCm39) noncoding transcript Het
Stxbp3-ps C T 19: 9,535,334 (GRCm39) noncoding transcript Het
Taf1d T A 9: 15,220,146 (GRCm39) F132I probably damaging Het
Tfap2b A G 1: 19,284,250 (GRCm39) S35G possibly damaging Het
Tnk2 C T 16: 32,488,341 (GRCm39) T198I probably benign Het
Trappc2b T C 11: 51,576,796 (GRCm39) H34R probably benign Het
Ube2q2 T A 9: 55,099,163 (GRCm39) V168E possibly damaging Het
Ucma A G 2: 4,986,141 (GRCm39) R105G probably benign Het
Vmn2r97 C T 17: 19,148,617 (GRCm39) Q171* probably null Het
Wapl T C 14: 34,452,619 (GRCm39) probably null Het
Zfand4 T A 6: 116,291,256 (GRCm39) C397S possibly damaging Het
Zfhx3 A G 8: 109,675,583 (GRCm39) N2211S probably damaging Het
Zfp143 G T 7: 109,669,687 (GRCm39) G39C probably benign Het
Zfp568 T A 7: 29,722,301 (GRCm39) D414E possibly damaging Het
Zfp574 C T 7: 24,781,375 (GRCm39) A799V 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
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
R7531:Arfgap2 UTSW 2 91,104,089 (GRCm39) splice site probably null
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'- TGCACTGATTTGCCTAAGCTTG -3'
(R):5'- ACTCGATGCACAGGCTGAAG -3'

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