Incidental Mutation 'R5157:Adap2'
ID 470579
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 042739-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R5157 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 80154105-80178958 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80156946 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 76 (F76S)
Ref Sequence ENSEMBL: ENSMUSP00000130731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021050] [ENSMUST00000134118]
AlphaFold Q8R2V5
Predicted Effect probably damaging
Transcript: ENSMUST00000021050
AA Change: F76S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021050
Gene: ENSMUSG00000020709
AA Change: F76S

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: F76S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130731
Gene: ENSMUSG00000020709
AA Change: F76S

DomainStartEndE-ValueType
ArfGap 9 130 1.62e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140556
Meta Mutation Damage Score 0.6800 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 100% (57/57)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009B22Rik A T 11: 51,686,066 (GRCm38) S2T probably benign Het
Abca3 C T 17: 24,408,122 (GRCm38) R1266C probably damaging Het
Adgb T A 10: 10,398,966 (GRCm38) H747L probably damaging Het
Aox1 T A 1: 58,070,063 (GRCm38) V670D probably damaging Het
Ap4e1 A G 2: 127,061,695 (GRCm38) D839G probably benign Het
Arhgef11 T A 3: 87,728,510 (GRCm38) probably null Het
AY074887 T C 9: 54,950,818 (GRCm38) probably benign Het
Bicd1 C G 6: 149,520,414 (GRCm38) Q878E probably benign Het
Catspere1 A T 1: 177,879,782 (GRCm38) noncoding transcript Het
Cnmd T C 14: 79,656,686 (GRCm38) Q87R probably benign Het
Col24a1 G T 3: 145,345,951 (GRCm38) G661* probably null Het
Crtap G A 9: 114,384,792 (GRCm38) L232F probably damaging Het
Ctsq T C 13: 61,037,099 (GRCm38) T258A probably benign Het
Cyp2d26 T C 15: 82,790,989 (GRCm38) Q388R probably benign Het
Ddb1 A T 19: 10,622,364 (GRCm38) T646S probably benign Het
Dnah6 G T 6: 73,195,634 (GRCm38) S280R probably benign Het
Dzank1 T C 2: 144,483,412 (GRCm38) H545R probably damaging Het
Ehhadh T A 16: 21,766,511 (GRCm38) M207L probably benign Het
Elmo2 T A 2: 165,291,707 (GRCm38) probably benign Het
Golga3 G A 5: 110,202,671 (GRCm38) A731T probably benign Het
Igsf21 T C 4: 140,028,067 (GRCm38) T426A possibly damaging Het
Kcnf1 T C 12: 17,174,741 (GRCm38) E493G probably benign Het
Lmna A T 3: 88,484,107 (GRCm38) D364E probably damaging Het
Lsr T C 7: 30,966,040 (GRCm38) Y163C probably damaging Het
Map3k20 A T 2: 72,438,214 (GRCm38) T522S probably benign Het
Mpp5 T A 12: 78,820,815 (GRCm38) M324K possibly damaging Het
Mroh9 C A 1: 163,044,121 (GRCm38) A598S probably damaging Het
Msln T C 17: 25,752,983 (GRCm38) M87V probably benign Het
Olfr1155 T A 2: 87,942,888 (GRCm38) M247L probably benign Het
Olfr1197 T A 2: 88,729,548 (GRCm38) Q17L probably benign Het
Olfr292 A G 7: 86,695,232 (GRCm38) K259E probably benign Het
Olfr385 T C 11: 73,589,723 (GRCm38) N5S probably damaging Het
Plekhg5 T A 4: 152,107,865 (GRCm38) probably benign Het
Pprc1 G T 19: 46,064,758 (GRCm38) probably benign Het
Ptprm T A 17: 66,957,097 (GRCm38) K385I probably benign Het
Rfxap T A 3: 54,804,517 (GRCm38) N215I probably damaging Het
Slc16a7 A T 10: 125,233,464 (GRCm38) Y114* probably null Het
Smarcb1 G T 10: 75,911,794 (GRCm38) probably benign Het
Spef2 T A 15: 9,668,791 (GRCm38) R770* probably null Het
Stard9 A T 2: 120,697,861 (GRCm38) Y1533F probably benign Het
Tbcd A T 11: 121,610,027 (GRCm38) Y1142F probably benign Het
Ttc23l G T 15: 10,551,550 (GRCm38) T30K possibly damaging Het
Uba7 G A 9: 107,980,047 (GRCm38) V703I probably benign Het
Upb1 T C 10: 75,412,804 (GRCm38) S53P possibly damaging Het
Zfp672 A G 11: 58,316,851 (GRCm38) S215P possibly damaging Het
Zfp978 T A 4: 147,390,980 (GRCm38) L328H probably damaging Het
Other mutations in Adap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02383:Adap2 APN 11 80,160,189 (GRCm38) missense probably damaging 1.00
IGL02442:Adap2 APN 11 80,177,206 (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
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
Predicted Primers PCR Primer
(F):5'- AGAAGCAGTTTCTCCTGGCC -3'
(R):5'- CTTCCATCCAGATCACAGGAG -3'

Sequencing Primer
(F):5'- CTGGAACTCCCTGTGTAGAAC -3'
(R):5'- TTCCATCCAGATCACAGGAGAACTC -3'
Posted On 2017-03-14