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 Centa2, centaurin alpha 2
MMRRC Submission 042739-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R5157 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 80044931-80069784 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80047772 bp (GRCm39)
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
Abca3 C T 17: 24,627,096 (GRCm39) R1266C probably damaging Het
Adgb T A 10: 10,274,710 (GRCm39) H747L probably damaging Het
Aox1 T A 1: 58,109,222 (GRCm39) V670D probably damaging Het
Ap4e1 A G 2: 126,903,615 (GRCm39) D839G probably benign Het
Arhgef11 T A 3: 87,635,817 (GRCm39) probably null Het
AY074887 T C 9: 54,858,102 (GRCm39) probably benign Het
Bicd1 C G 6: 149,421,912 (GRCm39) Q878E probably benign Het
Catspere1 A T 1: 177,707,348 (GRCm39) noncoding transcript Het
Cnmd T C 14: 79,894,126 (GRCm39) Q87R probably benign Het
Col24a1 G T 3: 145,051,712 (GRCm39) G661* probably null Het
Crtap G A 9: 114,213,860 (GRCm39) L232F probably damaging Het
Ctsq T C 13: 61,184,913 (GRCm39) T258A probably benign Het
Cyp2d26 T C 15: 82,675,190 (GRCm39) Q388R probably benign Het
Ddb1 A T 19: 10,599,728 (GRCm39) T646S probably benign Het
Dnah6 G T 6: 73,172,617 (GRCm39) S280R probably benign Het
Dzank1 T C 2: 144,325,332 (GRCm39) H545R probably damaging Het
Ehhadh T A 16: 21,585,261 (GRCm39) M207L probably benign Het
Elmo2 T A 2: 165,133,627 (GRCm39) probably benign Het
Golga3 G A 5: 110,350,537 (GRCm39) A731T probably benign Het
Igsf21 T C 4: 139,755,378 (GRCm39) T426A possibly damaging Het
Kcnf1 T C 12: 17,224,742 (GRCm39) E493G probably benign Het
Lmna A T 3: 88,391,414 (GRCm39) D364E probably damaging Het
Lsr T C 7: 30,665,465 (GRCm39) Y163C probably damaging Het
Map3k20 A T 2: 72,268,558 (GRCm39) T522S probably benign Het
Mroh9 C A 1: 162,871,690 (GRCm39) A598S probably damaging Het
Msln T C 17: 25,971,957 (GRCm39) M87V probably benign Het
Or14c39 A G 7: 86,344,440 (GRCm39) K259E probably benign Het
Or1e26 T C 11: 73,480,549 (GRCm39) N5S probably damaging Het
Or4a27 T A 2: 88,559,892 (GRCm39) Q17L probably benign Het
Or5d16 T A 2: 87,773,232 (GRCm39) M247L probably benign Het
Pals1 T A 12: 78,867,589 (GRCm39) M324K possibly damaging Het
Plekhg5 T A 4: 152,192,322 (GRCm39) probably benign Het
Pprc1 G T 19: 46,053,197 (GRCm39) probably benign Het
Ptprm T A 17: 67,264,092 (GRCm39) K385I probably benign Het
Rfxap T A 3: 54,711,938 (GRCm39) N215I probably damaging Het
Slc16a7 A T 10: 125,069,333 (GRCm39) Y114* probably null Het
Smarcb1 G T 10: 75,747,628 (GRCm39) probably benign Het
Spef2 T A 15: 9,668,877 (GRCm39) R770* probably null Het
Stard9 A T 2: 120,528,342 (GRCm39) Y1533F probably benign Het
Tbcd A T 11: 121,500,853 (GRCm39) Y1142F probably benign Het
Trappc2b A T 11: 51,576,893 (GRCm39) S2T probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Uba7 G A 9: 107,857,246 (GRCm39) V703I probably benign Het
Upb1 T C 10: 75,248,638 (GRCm39) S53P possibly damaging Het
Zfp672 A G 11: 58,207,677 (GRCm39) S215P possibly damaging Het
Zfp978 T A 4: 147,475,437 (GRCm39) L328H probably damaging Het
Other mutations in Adap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02383:Adap2 APN 11 80,051,015 (GRCm39) missense probably damaging 1.00
IGL02442:Adap2 APN 11 80,068,032 (GRCm39) missense probably damaging 1.00
IGL02953:Adap2 APN 11 80,045,126 (GRCm39) missense probably damaging 0.99
PIT4283001:Adap2 UTSW 11 80,068,089 (GRCm39) missense probably damaging 1.00
R0157:Adap2 UTSW 11 80,056,527 (GRCm39) missense probably damaging 1.00
R0382:Adap2 UTSW 11 80,069,211 (GRCm39) splice site probably benign
R0499:Adap2 UTSW 11 80,066,905 (GRCm39) missense probably damaging 1.00
R0722:Adap2 UTSW 11 80,047,810 (GRCm39) missense possibly damaging 0.86
R0828:Adap2 UTSW 11 80,056,490 (GRCm39) splice site probably benign
R1938:Adap2 UTSW 11 80,061,508 (GRCm39) missense probably damaging 1.00
R2268:Adap2 UTSW 11 80,056,552 (GRCm39) missense probably damaging 0.99
R3103:Adap2 UTSW 11 80,047,859 (GRCm39) missense probably damaging 1.00
R4621:Adap2 UTSW 11 80,064,899 (GRCm39) splice site probably null
R6326:Adap2 UTSW 11 80,045,848 (GRCm39) missense probably damaging 1.00
R6914:Adap2 UTSW 11 80,045,891 (GRCm39) missense probably benign 0.01
R6942:Adap2 UTSW 11 80,045,891 (GRCm39) missense probably benign 0.01
R7835:Adap2 UTSW 11 80,051,057 (GRCm39) missense probably benign 0.11
R8879:Adap2 UTSW 11 80,047,785 (GRCm39) missense probably benign 0.02
R9183:Adap2 UTSW 11 80,045,882 (GRCm39) missense probably damaging 0.99
R9408:Adap2 UTSW 11 80,045,942 (GRCm39) 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