Incidental Mutation 'R0927:Arfgap2'
ID 80466
Institutional Source Beutler Lab
Gene Symbol Arfgap2
Ensembl Gene ENSMUSG00000027255
Gene Name ADP-ribosylation factor GTPase activating protein 2
Synonyms Zfp289, 2310032E02Rik
MMRRC Submission 039074-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.780) question?
Stock # R0927 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 91095319-91107276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91104150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 374 (S374P)
Ref Sequence ENSEMBL: ENSMUSP00000078920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028691] [ENSMUST00000064652] [ENSMUST00000080008] [ENSMUST00000094835] [ENSMUST00000102594]
AlphaFold Q99K28
Predicted Effect probably benign
Transcript: ENSMUST00000028691
AA Change: S388P

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000028691
Gene: ENSMUSG00000027255
AA Change: S388P

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: S374P

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000078920
Gene: ENSMUSG00000027255
AA Change: S374P

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 93.7%
Validation Efficiency
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
Abcb8 T C 5: 24,607,317 (GRCm39) L363P probably damaging Het
Adam12 T A 7: 133,599,959 (GRCm39) H85L probably damaging Het
Adam34 A T 8: 44,104,621 (GRCm39) H341Q probably damaging Het
Adam34l A T 8: 44,078,160 (GRCm39) M688K probably benign Het
Adam7 A G 14: 68,754,133 (GRCm39) L322P probably damaging Het
Adcy5 T A 16: 34,976,613 (GRCm39) S49T probably benign Het
Arpp19 G A 9: 74,944,967 (GRCm39) probably benign Het
Baz1a T C 12: 54,941,773 (GRCm39) K1478E probably damaging Het
Cdc27 G T 11: 104,396,467 (GRCm39) A812E possibly damaging Het
Chtf8 G A 8: 107,612,150 (GRCm39) T263I probably damaging Het
Clcn6 T C 4: 148,113,849 (GRCm39) N70D probably benign Het
Cntnap5c A T 17: 58,349,553 (GRCm39) T289S possibly damaging Het
Dzip3 T C 16: 48,795,840 (GRCm39) N177S probably damaging Het
Edar G T 10: 58,465,313 (GRCm39) probably null Het
Enam T A 5: 88,641,919 (GRCm39) N244K possibly damaging Het
Fbxw10 A G 11: 62,767,770 (GRCm39) K874E probably damaging Het
Glra3 A G 8: 56,578,239 (GRCm39) E432G possibly damaging Het
Grin3b G A 10: 79,807,062 (GRCm39) R110Q probably benign Het
Herc3 T A 6: 58,845,748 (GRCm39) V423D possibly damaging Het
Ifit2 A T 19: 34,550,984 (GRCm39) T175S probably benign Het
Kcnj8 T G 6: 142,511,627 (GRCm39) I327L possibly damaging Het
Kcns2 A T 15: 34,839,242 (GRCm39) I202F probably benign Het
Kif12 T C 4: 63,087,010 (GRCm39) R305G possibly damaging Het
Limch1 A G 5: 67,154,576 (GRCm39) D362G probably damaging Het
Lrba T C 3: 86,687,540 (GRCm39) I2815T probably damaging Het
Lrrtm1 G T 6: 77,221,843 (GRCm39) M433I probably damaging Het
Myh7b A G 2: 155,462,040 (GRCm39) D312G probably damaging Het
Nrxn1 A T 17: 90,344,758 (GRCm39) I382N probably damaging Het
Nudt6 C T 3: 37,459,502 (GRCm39) R161H probably benign Het
Or10w1 T A 19: 13,631,816 (GRCm39) W8R probably damaging Het
Or11g2 A C 14: 50,856,044 (GRCm39) M122L possibly damaging Het
Or4m1 A T 14: 50,558,186 (GRCm39) Y35* probably null Het
Or7e166 C T 9: 19,624,945 (GRCm39) A274V probably benign Het
Pmf1 A T 3: 88,303,369 (GRCm39) V64D probably damaging Het
Pomgnt1 T A 4: 116,009,048 (GRCm39) V29D probably damaging Het
Pramel22 T A 4: 143,380,790 (GRCm39) H411L possibly damaging Het
Pramel26 A T 4: 143,539,378 (GRCm39) D38E probably benign Het
Prex1 C T 2: 166,428,457 (GRCm39) A925T probably benign Het
Pus3 A G 9: 35,476,327 (GRCm39) Y72C probably damaging Het
Rnf20 T C 4: 49,642,176 (GRCm39) S247P probably damaging Het
Rnf213 T A 11: 119,305,396 (GRCm39) D542E probably benign Het
Sidt1 T C 16: 44,063,895 (GRCm39) D786G probably benign Het
Sirt6 A T 10: 81,458,475 (GRCm39) D219E probably damaging Het
Slc36a2 A T 11: 55,072,411 (GRCm39) I67N probably damaging Het
Slc47a1 A G 11: 61,264,248 (GRCm39) F57S probably damaging Het
Spg11 T A 2: 121,924,968 (GRCm39) T756S probably damaging Het
Sptbn1 C A 11: 30,071,591 (GRCm39) R1447L probably damaging Het
Tcf7l2 A G 19: 55,907,387 (GRCm39) M340V probably damaging Het
Thap1 T C 8: 26,652,733 (GRCm39) V157A probably benign Het
Ubash3b G A 9: 40,934,853 (GRCm39) Q354* probably null Het
Ubtd1 G A 19: 42,020,460 (GRCm39) W68* probably null Het
Wdr64 G T 1: 175,620,647 (GRCm39) R793L probably damaging Het
Zbtb24 C T 10: 41,327,432 (GRCm39) T106I probably benign Het
Zbtb26 T C 2: 37,326,337 (GRCm39) N233S possibly damaging Het
Zcchc24 A T 14: 25,757,585 (GRCm39) N99K possibly 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
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'- TGGAACATTTGCATCTGGACCCC -3'
(R):5'- ACTGAAACGGAAAATCAGGCTCCTC -3'

Sequencing Primer
(F):5'- CCCAAAGTAAGGCTGTTGC -3'
(R):5'- cagttcctcagcagcacc -3'
Posted On 2013-11-07