Incidental Mutation 'R8172:Agfg2'
ID 634187
Institutional Source Beutler Lab
Gene Symbol Agfg2
Ensembl Gene ENSMUSG00000029722
Gene Name ArfGAP with FG repeats 2
Synonyms A630095P14Rik, Hrbl
MMRRC Submission 067598-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8172 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 137648725-137682988 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 137665431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 108 (R108L)
Ref Sequence ENSEMBL: ENSMUSP00000098112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031736] [ENSMUST00000100544] [ENSMUST00000151839] [ENSMUST00000198657]
AlphaFold Q80WC7
Predicted Effect possibly damaging
Transcript: ENSMUST00000031736
AA Change: R108L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031736
Gene: ENSMUSG00000029722
AA Change: R108L

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: R108L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098112
Gene: ENSMUSG00000029722
AA Change: R108L

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 probably damaging
Transcript: ENSMUST00000151839
AA Change: R108L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117351
Gene: ENSMUSG00000029722
AA Change: R108L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (53/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 T A 16: 34,977,427 (GRCm39) L320Q probably damaging Het
Adgre4 A T 17: 56,104,769 (GRCm39) L278F probably benign Het
Arap2 A T 5: 62,779,324 (GRCm39) probably null Het
Ascl2 G T 7: 142,522,336 (GRCm39) N37K possibly damaging Het
Baiap3 C A 17: 25,463,096 (GRCm39) D1043Y probably damaging Het
Cby2 T A 14: 75,829,241 (GRCm39) probably null Het
Ccdc18 T C 5: 108,311,640 (GRCm39) probably null Het
Cemip T A 7: 83,646,433 (GRCm39) D205V probably damaging Het
Cenpn G A 8: 117,658,333 (GRCm39) G93D probably benign Het
Clpsl2 T A 17: 28,768,556 (GRCm39) S23R possibly damaging Het
Cnot3 T A 7: 3,661,724 (GRCm39) I672N possibly damaging Het
Crygs A G 16: 22,625,292 (GRCm39) Y50H probably damaging Het
Cyp4x1 T C 4: 114,968,874 (GRCm39) T403A possibly damaging Het
Dnajc28 G A 16: 91,413,795 (GRCm39) R150* probably null Het
Fam184b C T 5: 45,741,709 (GRCm39) G174D possibly damaging Het
Fat2 T A 11: 55,178,638 (GRCm39) D1474V probably damaging Het
Flg2 T A 3: 93,108,468 (GRCm39) D165E possibly damaging Het
Fpr-rs7 A T 17: 20,334,443 (GRCm39) F16I probably benign Het
Gpr176 G A 2: 118,114,615 (GRCm39) T65I probably damaging Het
H2-Q10 C T 17: 35,781,996 (GRCm39) T206I probably null Het
Hadha C G 5: 30,350,285 (GRCm39) A88P probably damaging Het
Hlcs A T 16: 94,068,485 (GRCm39) L245Q probably damaging Het
Hnrnph1 T C 11: 50,270,732 (GRCm39) V113A probably damaging Het
Hsd3b7 G A 7: 127,401,546 (GRCm39) V224M probably damaging Het
Igha T C 12: 113,223,592 (GRCm39) D88G Het
Iqca1l T C 5: 24,748,608 (GRCm39) M803V probably benign Het
Kdm7a T C 6: 39,125,965 (GRCm39) K610R probably benign Het
Krt87 C T 15: 101,383,284 (GRCm39) C474Y probably benign Het
Lrrc74a T A 12: 86,788,530 (GRCm39) L170H probably damaging Het
Lyg2 T C 1: 37,946,748 (GRCm39) T178A probably benign Het
Map2k2 T A 10: 80,959,442 (GRCm39) probably null Het
Mast4 C T 13: 103,089,633 (GRCm39) probably null Het
Mtmr14 T A 6: 113,216,529 (GRCm39) D8E probably benign Het
Neu2 C T 1: 87,524,633 (GRCm39) P206L probably damaging Het
Oga C T 19: 45,765,339 (GRCm39) R156H probably damaging Het
Or10al6 A G 17: 38,083,326 (GRCm39) T261A probably benign Het
Or4c105 A T 2: 88,647,986 (GRCm39) Q157L probably damaging Het
Poc1b C A 10: 98,980,338 (GRCm39) probably null Het
Proser1 T A 3: 53,386,272 (GRCm39) V718E possibly damaging Het
Ptgr2 T A 12: 84,360,783 (GRCm39) L351Q possibly damaging Het
Ptprf A G 4: 118,068,275 (GRCm39) Y1754H probably benign Het
Scgb2b3 T C 7: 31,058,476 (GRCm39) K109R possibly damaging Het
Scn2a A T 2: 65,520,672 (GRCm39) H556L probably benign Het
Scn7a A T 2: 66,506,191 (GRCm39) M1566K possibly damaging Het
Slco5a1 A T 1: 13,060,490 (GRCm39) L77* probably null Het
Stk31 T C 6: 49,394,261 (GRCm39) F208L possibly damaging Het
Tbcd C T 11: 121,384,711 (GRCm39) T315M probably benign Het
Tbx4 A G 11: 85,801,933 (GRCm39) I189V probably benign Het
Tia1 T A 6: 86,404,682 (GRCm39) Y306N probably benign Het
Ttc21b T A 2: 66,082,500 (GRCm39) Y33F probably benign Het
Usp47 T A 7: 111,687,133 (GRCm39) L677* probably null 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
R0584:Agfg2 UTSW 5 137,665,992 (GRCm39) missense probably damaging 1.00
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
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'- CCAGTAAGACTTTGGAAATGGGATTG -3'
(R):5'- AGTATCTGCTATCGTTTGCCTTATG -3'

Sequencing Primer
(F):5'- GGATTGTGGGCAAACTGC -3'
(R):5'- CCTATTCGATCATAAACTGTGGGGC -3'
Posted On 2020-07-13