Incidental Mutation 'IGL02442:Adap2'
ID 293467
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adap2
Ensembl Gene ENSMUSG00000020709
Gene Name ArfGAP with dual PH domains 2
Synonyms centaurin alpha 2, Centa2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL02442
Quality Score
Chromosome 11
Chromosomal Location 80154105-80178958 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80177206 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 348 (E348G)
Ref Sequence ENSEMBL: ENSMUSP00000021050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021050]
AlphaFold Q8R2V5
Predicted Effect probably damaging
Transcript: ENSMUST00000021050
AA Change: E348G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021050
Gene: ENSMUSG00000020709
AA Change: E348G

ArfGap 9 130 1.62e-42 SMART
PH 133 235 4.57e-8 SMART
PH 256 363 2.35e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140556
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds beta-tubulin and increases the stability of microtubules. The encoded protein can also translocate to the cell membrane and bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). In addition, this protein is a GTPase-activating protein for ADP ribosylation factor 6 and may be able to block the entry of some RNA viruses. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak G A 19: 9,004,016 (GRCm38) G888D probably damaging Het
Cdc45 C T 16: 18,798,729 (GRCm38) M200I probably benign Het
Cfap97d1 T C 11: 101,990,826 (GRCm38) V116A probably benign Het
Csde1 T C 3: 103,054,819 (GRCm38) C649R probably benign Het
Cym A C 3: 107,214,285 (GRCm38) D230E probably damaging Het
Dnah1 A T 14: 31,287,878 (GRCm38) I1911N probably damaging Het
Fat1 A G 8: 44,950,323 (GRCm38) H37R probably benign Het
Ggt6 T C 11: 72,436,806 (GRCm38) V146A possibly damaging Het
Glud1 T A 14: 34,335,438 (GRCm38) L54* probably null Het
Grk6 A G 13: 55,458,937 (GRCm38) probably benign Het
Gsta4 G A 9: 78,209,165 (GRCm38) V219I probably benign Het
Gucy1a2 G A 9: 3,865,385 (GRCm38) V620M probably damaging Het
Hspe1 T C 1: 55,089,042 (GRCm38) probably benign Het
Icmt T C 4: 152,298,716 (GRCm38) V76A possibly damaging Het
Ifrd1 A G 12: 40,216,317 (GRCm38) probably benign Het
Lgals12 T C 19: 7,606,654 (GRCm38) probably benign Het
Lypla1 T C 1: 4,832,387 (GRCm38) probably benign Het
Map1b A T 13: 99,508,198 (GRCm38) W66R probably damaging Het
Matn3 T A 12: 8,967,678 (GRCm38) C443* probably null Het
Mup8 T A 4: 60,219,695 (GRCm38) R191W probably damaging Het
Mycbp2 T C 14: 103,314,375 (GRCm38) K140R probably benign Het
Ndfip1 C T 18: 38,447,736 (GRCm38) S66L probably damaging Het
Neu1 A G 17: 34,934,469 (GRCm38) I323V probably benign Het
Nup205 A T 6: 35,190,068 (GRCm38) T341S probably benign Het
Or4f7 G A 2: 111,813,991 (GRCm38) T245I probably benign Het
Or5b112 T A 19: 13,342,120 (GRCm38) C121S probably benign Het
Or5b3 T A 19: 13,410,987 (GRCm38) N139K probably benign Het
Ovch2 T A 7: 107,796,548 (GRCm38) I88F possibly damaging Het
Pkd1 T A 17: 24,565,226 (GRCm38) S249T probably benign Het
Plekhg3 A T 12: 76,578,353 (GRCm38) Q1324L probably benign Het
Ppara T A 15: 85,801,143 (GRCm38) V431E probably benign Het
Prkaa1 T G 15: 5,176,888 (GRCm38) H408Q probably damaging Het
Sap25 T A 5: 137,641,995 (GRCm38) N108K probably benign Het
Setd5 A C 6: 113,110,380 (GRCm38) I81L possibly damaging Het
Sinhcaf A T 6: 148,928,507 (GRCm38) probably null Het
Sri T A 5: 8,062,411 (GRCm38) M78K probably damaging Het
Tyro3 A G 2: 119,808,868 (GRCm38) N352S probably benign Het
Ubr5 T A 15: 38,037,901 (GRCm38) E332V possibly damaging Het
Vmn2r19 G T 6: 123,309,662 (GRCm38) V85F possibly damaging Het
Vmn2r53 A T 7: 12,581,729 (GRCm38) V721D probably damaging Het
Vwa5a A G 9: 38,734,784 (GRCm38) M483V probably benign Het
Zfp786 T A 6: 47,821,367 (GRCm38) Q212H probably benign Het
Other mutations in Adap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02383:Adap2 APN 11 80,160,189 (GRCm38) missense probably damaging 1.00
IGL02953:Adap2 APN 11 80,154,300 (GRCm38) missense probably damaging 0.99
PIT4283001:Adap2 UTSW 11 80,177,263 (GRCm38) missense probably damaging 1.00
R0157:Adap2 UTSW 11 80,165,701 (GRCm38) missense probably damaging 1.00
R0382:Adap2 UTSW 11 80,178,385 (GRCm38) splice site probably benign
R0499:Adap2 UTSW 11 80,176,079 (GRCm38) missense probably damaging 1.00
R0722:Adap2 UTSW 11 80,156,984 (GRCm38) missense possibly damaging 0.86
R0828:Adap2 UTSW 11 80,165,664 (GRCm38) splice site probably benign
R1938:Adap2 UTSW 11 80,170,682 (GRCm38) missense probably damaging 1.00
R2268:Adap2 UTSW 11 80,165,726 (GRCm38) missense probably damaging 0.99
R3103:Adap2 UTSW 11 80,157,033 (GRCm38) missense probably damaging 1.00
R4621:Adap2 UTSW 11 80,174,073 (GRCm38) splice site probably null
R5157:Adap2 UTSW 11 80,156,946 (GRCm38) missense probably damaging 1.00
R6326:Adap2 UTSW 11 80,155,022 (GRCm38) missense probably damaging 1.00
R6914:Adap2 UTSW 11 80,155,065 (GRCm38) missense probably benign 0.01
R6942:Adap2 UTSW 11 80,155,065 (GRCm38) missense probably benign 0.01
R7835:Adap2 UTSW 11 80,160,231 (GRCm38) missense probably benign 0.11
R8879:Adap2 UTSW 11 80,156,959 (GRCm38) missense probably benign 0.02
R9183:Adap2 UTSW 11 80,155,056 (GRCm38) missense probably damaging 0.99
R9408:Adap2 UTSW 11 80,155,116 (GRCm38) missense probably damaging 1.00
Posted On 2015-04-16