Incidental Mutation 'R9183:Adap2'
ID 697197
Institutional Source Beutler Lab
Gene Symbol Adap2
Ensembl Gene ENSMUSG00000020709
Gene Name ArfGAP with dual PH domains 2
Synonyms centaurin alpha 2, Centa2
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R9183 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 80154105-80178958 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80155056 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 54 (N54S)
Ref Sequence ENSEMBL: ENSMUSP00000021050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021050] [ENSMUST00000134118]
AlphaFold Q8R2V5
Predicted Effect probably damaging
Transcript: ENSMUST00000021050
AA Change: N54S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021050
Gene: ENSMUSG00000020709
AA Change: N54S

DomainStartEndE-ValueType
ArfGap 9 130 1.62e-42 SMART
PH 133 235 4.57e-8 SMART
PH 256 363 2.35e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000134118
AA Change: N54S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130731
Gene: ENSMUSG00000020709
AA Change: N54S

DomainStartEndE-ValueType
ArfGap 9 130 1.62e-42 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 A G 14: 8,251,559 C313R probably damaging Het
Adcy8 T C 15: 64,822,267 D387G probably damaging Het
Adgra1 G A 7: 139,875,800 R448Q probably benign Het
Antxr1 A T 6: 87,287,043 D148E probably damaging Het
Ap3d1 A T 10: 80,709,793 V1034E probably null Het
Arpp21 C T 9: 112,065,998 A731T probably benign Het
Asl T A 5: 130,013,471 R255W probably damaging Het
Asxl1 T A 2: 153,397,920 S544T probably damaging Het
Atp8a1 A C 5: 67,767,035 Y329D Het
Calcr A T 6: 3,711,463 I186N probably damaging Het
Cdh18 T C 15: 23,226,979 probably null Het
Celsr3 T C 9: 108,829,396 L1026P probably damaging Het
Ces2a T A 8: 104,734,142 V24E possibly damaging Het
Clybl T C 14: 122,401,975 I317T probably damaging Het
Col13a1 T A 10: 61,863,979 T476S unknown Het
Cyp4f15 T C 17: 32,700,231 S343P probably damaging Het
D230025D16Rik C A 8: 105,231,208 Q49K probably benign Het
D630003M21Rik T C 2: 158,217,192 T263A probably benign Het
Fbxo28 A G 1: 182,329,961 V97A possibly damaging Het
Frem2 C T 3: 53,520,065 V2889I probably damaging Het
Garnl3 T C 2: 33,005,068 E663G probably damaging Het
Gen1 T A 12: 11,249,185 K338M probably damaging Het
Gfi1 A G 5: 107,725,953 probably null Het
Gfod2 A G 8: 105,723,021 S95P probably benign Het
H2-Bl T A 17: 36,081,490 H31L unknown Het
Heatr1 A G 13: 12,421,385 Q1224R probably damaging Het
Hectd4 A G 5: 121,299,488 K1059E possibly damaging Het
Hmgcs2 C T 3: 98,290,916 A45V possibly damaging Het
Hnmt C A 2: 24,003,643 V280L probably benign Het
Ifi35 G T 11: 101,457,265 V66L probably benign Het
Kcnn2 T C 18: 45,561,312 I188T probably damaging Het
Klhl8 C A 5: 103,864,245 A575S probably benign Het
Krt6a T C 15: 101,693,011 D225G probably benign Het
Lrtm2 T C 6: 119,317,423 Y249C probably damaging Het
Med12l C T 3: 59,077,077 R479C probably damaging Het
Muc5ac A T 7: 141,798,900 Y709F possibly damaging Het
Nsd2 G A 5: 33,871,452 A162T probably damaging Het
Olfr768 A G 10: 129,093,332 M214T probably benign Het
Polr2h T C 16: 20,720,535 Y90H possibly damaging Het
Prkaa1 A T 15: 5,176,488 E275V probably damaging Het
Prss22 C T 17: 23,994,618 G233E probably damaging Het
Rhcg A T 7: 79,594,816 L496* probably null Het
Rnf213 A G 11: 119,427,622 E1084G Het
Safb2 ACTTCTTCT ACTTCT 17: 56,571,292 probably benign Het
Slc14a1 T A 18: 78,111,383 I263F probably benign Het
Slc40a1 C T 1: 45,909,511 M536I possibly damaging Het
Slco6c1 T A 1: 97,069,050 probably null Het
Stk32a T C 18: 43,261,340 F118S probably damaging Het
Sytl1 G T 4: 133,253,623 R467S possibly damaging Het
Thbs2 T C 17: 14,676,264 I788V probably benign Het
Tmed6 T A 8: 107,061,758 R186* probably null Het
Trnau1ap G A 4: 132,325,254 R78C probably damaging Het
Trpv1 A T 11: 73,244,213 D412V possibly damaging Het
Ttc16 C T 2: 32,757,317 V688M probably benign Het
Ubr5 C A 15: 37,997,176 L1738F Het
Vmn2r89 A G 14: 51,455,044 I101M probably benign Het
Wdr27 C T 17: 14,928,389 R114Q possibly damaging Het
Wdr48 A G 9: 119,920,664 H563R possibly damaging Het
Wdr49 A C 3: 75,298,112 S666A probably benign Het
Wwox T C 8: 114,706,370 S259P probably damaging Het
Zfp160 T A 17: 21,020,092 D12E possibly damaging Het
Zfp800 A G 6: 28,243,173 Y598H probably benign Het
Zfp970 T C 2: 177,475,743 L370P probably damaging Het
Zmat5 A T 11: 4,722,431 D16V probably damaging Het
Other mutations in Adap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02383:Adap2 APN 11 80160189 missense probably damaging 1.00
IGL02442:Adap2 APN 11 80177206 missense probably damaging 1.00
IGL02953:Adap2 APN 11 80154300 missense probably damaging 0.99
PIT4283001:Adap2 UTSW 11 80177263 missense probably damaging 1.00
R0157:Adap2 UTSW 11 80165701 missense probably damaging 1.00
R0382:Adap2 UTSW 11 80178385 splice site probably benign
R0499:Adap2 UTSW 11 80176079 missense probably damaging 1.00
R0722:Adap2 UTSW 11 80156984 missense possibly damaging 0.86
R0828:Adap2 UTSW 11 80165664 splice site probably benign
R1938:Adap2 UTSW 11 80170682 missense probably damaging 1.00
R2268:Adap2 UTSW 11 80165726 missense probably damaging 0.99
R3103:Adap2 UTSW 11 80157033 missense probably damaging 1.00
R4621:Adap2 UTSW 11 80174073 splice site probably null
R5157:Adap2 UTSW 11 80156946 missense probably damaging 1.00
R6326:Adap2 UTSW 11 80155022 missense probably damaging 1.00
R6914:Adap2 UTSW 11 80155065 missense probably benign 0.01
R6942:Adap2 UTSW 11 80155065 missense probably benign 0.01
R7835:Adap2 UTSW 11 80160231 missense probably benign 0.11
R8879:Adap2 UTSW 11 80156959 missense probably benign 0.02
R9408:Adap2 UTSW 11 80155116 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCACCTCAGTTGTCCAAGG -3'
(R):5'- TGCTAAGACACTGTGTTTCCTC -3'

Sequencing Primer
(F):5'- AAAGGATTGCCGGCGTG -3'
(R):5'- AATCATTGCACCTCTCTGGG -3'
Posted On 2022-02-07