Incidental Mutation 'R4645:Agfg2'
ID 350160
Institutional Source Beutler Lab
Gene Symbol Agfg2
Ensembl Gene ENSMUSG00000029722
Gene Name ArfGAP with FG repeats 2
Synonyms A630095P14Rik, Hrbl
MMRRC Submission 041906-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4645 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 137648725-137682988 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to A at 137682854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031736] [ENSMUST00000100544] [ENSMUST00000151839]
AlphaFold Q80WC7
Predicted Effect probably benign
Transcript: ENSMUST00000031736
SMART Domains Protein: ENSMUSP00000031736
Gene: ENSMUSG00000029722

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 benign
Transcript: ENSMUST00000100544
SMART Domains Protein: ENSMUSP00000098112
Gene: ENSMUSG00000029722

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: ENSMUST00000126693
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138604
Predicted Effect probably benign
Transcript: ENSMUST00000151839
SMART Domains Protein: ENSMUSP00000117351
Gene: ENSMUSG00000029722

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (53/54)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,635,700 (GRCm39) E101G probably damaging Het
Adgrf5 A G 17: 43,748,416 (GRCm39) E29G probably damaging Het
Ap4b1 A G 3: 103,728,765 (GRCm39) S468G probably benign Het
AY702103 G T 17: 50,546,941 (GRCm39) noncoding transcript Het
Ccdc14 T C 16: 34,542,110 (GRCm39) L536S probably damaging Het
Ccr9 G T 9: 123,608,658 (GRCm39) M101I probably benign Het
Celsr1 A T 15: 85,800,957 (GRCm39) V2496E probably benign Het
Celsr2 C A 3: 108,303,285 (GRCm39) G2486V probably damaging Het
Cntnap3 A G 13: 64,926,602 (GRCm39) probably null Het
Erlin1 T C 19: 44,057,759 (GRCm39) Y22C probably damaging Het
Fam135b T C 15: 71,334,189 (GRCm39) T1002A probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Glud1 T C 14: 34,033,063 (GRCm39) V70A probably damaging Het
Hdlbp A G 1: 93,349,842 (GRCm39) probably benign Het
Immt T C 6: 71,833,923 (GRCm39) L184P probably damaging Het
Iqsec1 T G 6: 90,644,995 (GRCm39) K983T probably damaging Het
Klhl6 A T 16: 19,765,897 (GRCm39) N568K probably damaging Het
Lbhd1 T G 19: 8,861,452 (GRCm39) probably benign Het
Lrit2 C T 14: 36,794,432 (GRCm39) R499C probably benign Het
Lrp6 T C 6: 134,461,213 (GRCm39) D748G probably damaging Het
Lrriq4 A G 3: 30,704,892 (GRCm39) K292E probably benign Het
Ly96 G T 1: 16,761,940 (GRCm39) E49* probably null Het
Lztr1 C T 16: 17,341,955 (GRCm39) probably benign Het
Mmp12 A G 9: 7,347,515 (GRCm39) M31V probably benign Het
Mok A T 12: 110,774,873 (GRCm39) probably benign Het
Mpi T C 9: 57,458,040 (GRCm39) H54R probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Or4c101 T C 2: 88,390,722 (GRCm39) I292T probably damaging Het
Pomt1 G T 2: 32,132,888 (GRCm39) probably benign Het
Ptpn20 G A 14: 33,353,169 (GRCm39) V303I probably benign Het
Pyroxd1 C G 6: 142,300,467 (GRCm39) S199* probably null Het
Shank2 A G 7: 143,964,159 (GRCm39) K799R possibly damaging Het
Sim1 A T 10: 50,860,093 (GRCm39) T652S probably benign Het
Slc8a2 C T 7: 15,868,164 (GRCm39) T132I probably damaging Het
Spaca6 A T 17: 18,056,307 (GRCm39) probably benign Het
Sympk G T 7: 18,777,385 (GRCm39) R545L possibly damaging Het
Tenm4 G T 7: 96,544,949 (GRCm39) G2322W probably damaging Het
Thap1 A G 8: 26,652,597 (GRCm39) T135A probably damaging Het
Traf3 T C 12: 111,228,400 (GRCm39) V537A probably damaging Het
Ttn T C 2: 76,578,680 (GRCm39) D24071G probably damaging Het
Tysnd1 G T 10: 61,531,962 (GRCm39) V205L probably benign Het
Unc79 T C 12: 103,079,081 (GRCm39) S1749P probably benign Het
Vmn2r50 T A 7: 9,771,162 (GRCm39) *846C probably null Het
Vmn2r74 C T 7: 85,606,317 (GRCm39) S343N probably benign Het
Zfyve28 T G 5: 34,379,787 (GRCm39) probably benign Het
Zmym2 T C 14: 57,165,764 (GRCm39) S696P probably damaging Het
Zscan4e T C 7: 11,041,002 (GRCm39) Y290C possibly damaging Het
Zswim2 G T 2: 83,745,891 (GRCm39) H516N probably benign 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
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'- ATGTCCACATACGTGACCCC -3'
(R):5'- GTCTCGAATCGAACCAATTAAAGC -3'

Sequencing Primer
(F):5'- ACTCGAAACAGTGGCGGT -3'
(R):5'- TCGAACCAATTAAAGCAAGGAGGTG -3'
Posted On 2015-10-08