Incidental Mutation 'R0097:Arfgap2'
ID 41141
Institutional Source Beutler Lab
Gene Symbol Arfgap2
Ensembl Gene ENSMUSG00000027255
Gene Name ADP-ribosylation factor GTPase activating protein 2
Synonyms Zfp289, 2310032E02Rik
MMRRC Submission 038383-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.780) question?
Stock # R0097 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 91095319-91107276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91105160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 422 (V422E)
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: V422E

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000028691
Gene: ENSMUSG00000027255
AA Change: V422E

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: V408E

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000078920
Gene: ENSMUSG00000027255
AA Change: V408E

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 0.0740 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (57/57)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,206,129 (GRCm39) I353K probably benign Het
Albfm1 T A 5: 90,732,795 (GRCm39) S535R probably benign Het
Baz1b T C 5: 135,227,113 (GRCm39) S105P probably benign Het
Bbs10 T C 10: 111,134,705 (GRCm39) V41A probably damaging Het
Cacna1s T A 1: 136,028,360 (GRCm39) M899K possibly damaging Het
Ccnd2 G A 6: 127,123,015 (GRCm39) A180V probably benign Het
Ciao3 T C 17: 25,995,976 (GRCm39) S67P possibly damaging Het
Cldnd1 A G 16: 58,550,078 (GRCm39) N87S possibly damaging Het
Cyp2c54 T A 19: 40,036,102 (GRCm39) probably benign Het
Cyp2c54 G T 19: 40,036,103 (GRCm39) probably benign Het
Dab2ip G A 2: 35,608,928 (GRCm39) V629M possibly damaging Het
Ddx41 A T 13: 55,683,691 (GRCm39) probably benign Het
Dmrta1 A T 4: 89,577,109 (GRCm39) R188S probably benign Het
Eml3 T A 19: 8,914,015 (GRCm39) F465L probably benign Het
Gm9938 T A 19: 23,701,828 (GRCm39) probably benign Het
Gpr87 G A 3: 59,086,506 (GRCm39) T333I probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Llgl2 T A 11: 115,735,323 (GRCm39) Y59* probably null Het
Lzic A G 4: 149,572,533 (GRCm39) E41G probably damaging Het
Mprip T A 11: 59,649,317 (GRCm39) L1007Q possibly damaging Het
Mtfr2 T A 10: 20,224,122 (GRCm39) S19T probably damaging Het
Mycbp2 A T 14: 103,393,198 (GRCm39) M3121K probably damaging Het
Myocd T A 11: 65,069,840 (GRCm39) M667L possibly damaging Het
Ncam2 A G 16: 81,314,425 (GRCm39) D467G probably damaging Het
Neb T C 2: 52,094,906 (GRCm39) N4882S probably damaging Het
Neu2 A G 1: 87,525,188 (GRCm39) D391G probably benign Het
Nol4 C A 18: 22,852,198 (GRCm39) A456S probably benign Het
Or5m13 T C 2: 85,749,184 (GRCm39) V305A probably benign Het
Padi6 C T 4: 140,458,268 (GRCm39) V513M probably benign Het
Pign G A 1: 105,515,701 (GRCm39) probably benign Het
Plpp2 T C 10: 79,366,371 (GRCm39) E91G possibly damaging Het
Pnp T A 14: 51,188,873 (GRCm39) V222D probably damaging Het
Pnp2 C T 14: 51,200,958 (GRCm39) R148C probably benign Het
Pramel30 T C 4: 144,057,857 (GRCm39) S155P probably benign Het
Prss38 A G 11: 59,266,434 (GRCm39) L8S possibly damaging Het
Rab5b A T 10: 128,518,809 (GRCm39) F108I probably damaging Het
Rbbp5 T A 1: 132,418,227 (GRCm39) H15Q possibly damaging Het
Rhox4f A C X: 36,789,122 (GRCm39) V15G probably benign Het
Rsl1 A C 13: 67,329,966 (GRCm39) Q138P probably damaging Het
Ryr3 T C 2: 112,630,400 (GRCm39) D2157G probably damaging Het
Secisbp2l T C 2: 125,613,376 (GRCm39) D206G probably damaging Het
Sh3pxd2b T A 11: 32,353,978 (GRCm39) I182N probably damaging Het
Slc3a1 A T 17: 85,340,288 (GRCm39) I237F probably damaging Het
Svs3b T C 2: 164,098,159 (GRCm39) E54G probably damaging Het
T A T 17: 8,658,733 (GRCm39) probably benign Het
Tenm4 A T 7: 96,542,133 (GRCm39) D1882V probably damaging Het
Tgfbr1 T A 4: 47,403,451 (GRCm39) L283* probably null Het
Tppp3 C T 8: 106,194,554 (GRCm39) A149T probably benign Het
Ubp1 T C 9: 113,802,575 (GRCm39) probably benign Het
Ushbp1 C T 8: 71,843,357 (GRCm39) C314Y probably damaging Het
Vav2 A T 2: 27,189,374 (GRCm39) probably benign Het
Vmn1r228 T C 17: 20,996,625 (GRCm39) M298V probably benign Het
Zmpste24 A T 4: 120,952,740 (GRCm39) probably benign Het
Other mutations in Arfgap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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'- GATAGGACGACCTTCTTTCTGCGAC -3'
(R):5'- TCCCGATGCTAAGGCCAAGAACAG -3'

Sequencing Primer
(F):5'- TCTGCGACTTAGTGAGACCAC -3'
(R):5'- CAGAAAGGGAAGCCCCG -3'
Posted On 2013-05-23