Incidental Mutation 'R0584:Agfg2'
ID 56551
Institutional Source Beutler Lab
Gene Symbol Agfg2
Ensembl Gene ENSMUSG00000029722
Gene Name ArfGAP with FG repeats 2
Synonyms A630095P14Rik, Hrbl
MMRRC Submission 038774-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0584 (G1)
Quality Score 111
Status Validated
Chromosome 5
Chromosomal Location 137648725-137682988 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 137665992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 89 (T89I)
Ref Sequence ENSEMBL: ENSMUSP00000117351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031736] [ENSMUST00000100544] [ENSMUST00000151839] [ENSMUST00000198657]
AlphaFold Q80WC7
Predicted Effect probably damaging
Transcript: ENSMUST00000031736
AA Change: T89I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000031736
Gene: ENSMUSG00000029722
AA Change: T89I

DomainStartEndE-ValueType
ArfGap 27 153 7.19e-35 SMART
low complexity region 194 219 N/A INTRINSIC
low complexity region 235 249 N/A INTRINSIC
low complexity region 269 283 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100544
AA Change: T89I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000098112
Gene: ENSMUSG00000029722
AA Change: T89I

DomainStartEndE-ValueType
ArfGap 27 153 7.19e-35 SMART
low complexity region 194 219 N/A INTRINSIC
low complexity region 235 249 N/A INTRINSIC
low complexity region 269 283 N/A INTRINSIC
low complexity region 285 296 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138604
Predicted Effect probably damaging
Transcript: ENSMUST00000151839
AA Change: T89I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117351
Gene: ENSMUSG00000029722
AA Change: T89I

DomainStartEndE-ValueType
ArfGap 27 153 7.19e-35 SMART
low complexity region 194 219 N/A INTRINSIC
low complexity region 235 249 N/A INTRINSIC
low complexity region 268 282 N/A INTRINSIC
low complexity region 284 295 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198657
SMART Domains Protein: ENSMUSP00000143273
Gene: ENSMUSG00000029722

DomainStartEndE-ValueType
low complexity region 24 51 N/A INTRINSIC
Meta Mutation Damage Score 0.7103 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 93.7%
Validation Efficiency 98% (47/48)
MGI Phenotype FUNCTION: This gene encodes a paralog of the HIV-1 Rev binding proteins that serve as cellular co-factors for HIV-1 Rev protein in shuttling viral pre-mRNAs from the nucleus to the cytoplasm. The encoded protein contains an ADP-ribosylation factor GTPase activating protein (Arf-GAP) zinc finger domain, several phenylalanine-glycine (FG) motifs and asparagine-proline-phenylalanine (NPF) motifs. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,847,564 (GRCm39) S1745P probably damaging Het
Agtr1a A G 13: 30,565,017 (GRCm39) I27M probably damaging Het
Armh1 A T 4: 117,087,047 (GRCm39) L206Q probably damaging Het
Asxl2 A T 12: 3,546,632 (GRCm39) E472V probably damaging Het
Atp2c2 T A 8: 120,465,157 (GRCm39) V313E probably benign Het
Casp12 A G 9: 5,352,268 (GRCm39) I87V probably null Het
Ccl25 C T 8: 4,404,085 (GRCm39) probably benign Het
Col9a1 T C 1: 24,263,571 (GRCm39) probably benign Het
Cyth4 A G 15: 78,494,078 (GRCm39) probably null Het
Dnah9 A G 11: 65,881,315 (GRCm39) Y2587H probably damaging Het
Dppa3 T C 6: 122,606,951 (GRCm39) I147T probably benign Het
Fam120b T C 17: 15,622,384 (GRCm39) S121P probably damaging Het
Fam209 C T 2: 172,316,081 (GRCm39) T152M probably benign Het
Fam98a A G 17: 75,851,772 (GRCm39) L103P probably damaging Het
Fcho1 T C 8: 72,168,369 (GRCm39) Y218C probably damaging Het
Fitm1 T C 14: 55,814,113 (GRCm39) V203A probably benign Het
Gcn1 G A 5: 115,733,074 (GRCm39) R1037Q probably damaging Het
Gm11563 A G 11: 99,549,451 (GRCm39) I101T unknown Het
Gpd1l A G 9: 114,743,412 (GRCm39) F163L probably damaging Het
Grp C A 18: 66,006,766 (GRCm39) A30E possibly damaging Het
H1f7 C A 15: 98,154,958 (GRCm39) E64* probably null Het
Icosl T C 10: 77,907,709 (GRCm39) Y90H possibly damaging Het
Itsn2 A G 12: 4,747,180 (GRCm39) T1194A probably benign Het
Lrp6 A G 6: 134,433,039 (GRCm39) S1431P probably damaging Het
Ltbp1 T C 17: 75,670,467 (GRCm39) S1503P probably damaging Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Myh13 G T 11: 67,251,200 (GRCm39) E1360* probably null Het
Nop58 A G 1: 59,745,919 (GRCm39) D400G probably benign Het
Or5p79 T C 7: 108,221,622 (GRCm39) L201P probably benign Het
Or6c205 T C 10: 129,086,817 (GRCm39) V138A probably benign Het
Oscp1 A G 4: 125,977,387 (GRCm39) probably null Het
Pde9a A T 17: 31,678,951 (GRCm39) Y264F probably damaging Het
Pkhd1 T A 1: 20,309,660 (GRCm39) K2763* probably null Het
Prkci T A 3: 31,079,289 (GRCm39) C42* probably null Het
Ptprr T C 10: 116,087,063 (GRCm39) V270A probably damaging Het
Rsf1 T A 7: 97,311,335 (GRCm39) N688K possibly damaging Het
S1pr3 A T 13: 51,573,697 (GRCm39) M293L probably benign Het
Scn10a A C 9: 119,499,597 (GRCm39) L232R probably damaging Het
Sirt5 T A 13: 43,548,204 (GRCm39) probably null Het
Sp6 C T 11: 96,913,091 (GRCm39) T268M probably damaging Het
Spag5 A G 11: 78,194,921 (GRCm39) N76S possibly damaging Het
Tecta T C 9: 42,259,204 (GRCm39) N1560D possibly damaging Het
Togaram1 T C 12: 65,014,279 (GRCm39) L510P probably damaging Het
Umps A G 16: 33,779,494 (GRCm39) I401T probably damaging Het
Vars2 A G 17: 35,977,578 (GRCm39) V118A possibly damaging Het
Other mutations in Agfg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0020:Agfg2 UTSW 5 137,652,064 (GRCm39) missense probably benign 0.22
R0020:Agfg2 UTSW 5 137,652,064 (GRCm39) missense probably benign 0.22
R1692:Agfg2 UTSW 5 137,662,633 (GRCm39) missense probably damaging 0.99
R1982:Agfg2 UTSW 5 137,662,515 (GRCm39) missense possibly damaging 0.87
R2140:Agfg2 UTSW 5 137,665,378 (GRCm39) missense probably damaging 1.00
R3816:Agfg2 UTSW 5 137,652,036 (GRCm39) missense probably benign 0.03
R4527:Agfg2 UTSW 5 137,682,798 (GRCm39) missense unknown
R4645:Agfg2 UTSW 5 137,682,854 (GRCm39) utr 5 prime probably benign
R4965:Agfg2 UTSW 5 137,665,439 (GRCm39) critical splice acceptor site probably null
R5022:Agfg2 UTSW 5 137,658,422 (GRCm39) critical splice donor site probably null
R5426:Agfg2 UTSW 5 137,666,020 (GRCm39) missense probably damaging 1.00
R6140:Agfg2 UTSW 5 137,665,347 (GRCm39) missense probably damaging 1.00
R7474:Agfg2 UTSW 5 137,652,130 (GRCm39) missense possibly damaging 0.96
R7752:Agfg2 UTSW 5 137,665,966 (GRCm39) missense probably damaging 0.96
R7901:Agfg2 UTSW 5 137,665,966 (GRCm39) missense probably damaging 0.96
R8172:Agfg2 UTSW 5 137,665,431 (GRCm39) missense probably damaging 0.99
R8190:Agfg2 UTSW 5 137,653,664 (GRCm39) missense probably benign 0.06
R9005:Agfg2 UTSW 5 137,650,744 (GRCm39) missense probably damaging 0.98
R9238:Agfg2 UTSW 5 137,653,622 (GRCm39) missense probably damaging 0.99
R9342:Agfg2 UTSW 5 137,652,114 (GRCm39) missense probably benign 0.00
R9373:Agfg2 UTSW 5 137,662,476 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTCCGACAGACCTGAAGGGACAGA -3'
(R):5'- GGGTCCTGACTGAGACCATCTTCT -3'

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