Incidental Mutation 'R3103:Adap2'
ID 262917
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 040577-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R3103 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 80044931-80069784 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 80047859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 105 (C105F)
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: C105F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021050
Gene: ENSMUSG00000020709
AA Change: C105F

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: C105F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130731
Gene: ENSMUSG00000020709
AA Change: C105F

DomainStartEndE-ValueType
ArfGap 9 130 1.62e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140556
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 A G 7: 28,310,409 (GRCm39) probably null Het
Bace2 T C 16: 97,223,201 (GRCm39) probably null Het
Bpifc A G 10: 85,829,286 (GRCm39) S94P probably damaging Het
C2cd3 A G 7: 100,044,459 (GRCm39) D347G possibly damaging Het
Cad T C 5: 31,219,018 (GRCm39) V613A possibly damaging Het
Ccdc47 T C 11: 106,093,667 (GRCm39) H6R probably benign Het
Celsr3 A G 9: 108,714,338 (GRCm39) T1956A probably benign Het
Cep128 T A 12: 90,986,118 (GRCm39) D1006V probably damaging Het
Cog3 T C 14: 75,984,641 (GRCm39) probably null Het
Csmd1 C T 8: 15,967,405 (GRCm39) V3153M probably damaging Het
Ctnna2 T C 6: 77,630,127 (GRCm39) E122G possibly damaging Het
Cts8 T A 13: 61,398,772 (GRCm39) I245F probably damaging Het
Ddx27 T A 2: 166,868,166 (GRCm39) V333E probably damaging Het
Dmpk A G 7: 18,821,579 (GRCm39) Y279C probably damaging Het
Dpagt1 A G 9: 44,239,292 (GRCm39) I111V probably benign Het
Dvl2 C A 11: 69,899,695 (GRCm39) P546T possibly damaging Het
Fat4 G T 3: 38,946,089 (GRCm39) A1661S probably benign Het
Gcm1 A G 9: 77,971,734 (GRCm39) N225S probably damaging Het
Gcnt2 A T 13: 41,072,082 (GRCm39) M242L probably benign Het
Golgb1 A G 16: 36,715,211 (GRCm39) R226G probably damaging Het
Gpr63 G A 4: 25,007,353 (GRCm39) V26I probably benign Het
Grik2 A G 10: 49,116,868 (GRCm39) L631P probably damaging Het
Hapln3 T C 7: 78,771,484 (GRCm39) D135G probably benign Het
Il31ra C A 13: 112,666,885 (GRCm39) V398F probably damaging Het
Ipp G T 4: 116,381,446 (GRCm39) R315L possibly damaging Het
Kcmf1 A G 6: 72,838,830 (GRCm39) L32P probably damaging Het
Klf17 T A 4: 117,617,805 (GRCm39) Q184L possibly damaging Het
Lrp2 C T 2: 69,262,328 (GRCm39) V4442I probably benign Het
Lrrfip2 A T 9: 111,051,278 (GRCm39) E293D probably damaging Het
Oit3 A G 10: 59,274,713 (GRCm39) I29T probably damaging Het
Or1a1 G A 11: 74,086,901 (GRCm39) D191N probably benign Het
Or1j21 T C 2: 36,683,574 (GRCm39) C109R possibly damaging Het
Or51h1 T C 7: 102,308,688 (GRCm39) V220A probably benign Het
Plb1 T A 5: 32,485,373 (GRCm39) M842K possibly damaging Het
Ppt1 T C 4: 122,730,100 (GRCm39) C18R probably benign Het
Pstpip2 T C 18: 77,959,477 (GRCm39) Y191H probably damaging Het
Ryr1 C T 7: 28,774,373 (GRCm39) V2361I probably damaging Het
Serpinb11 A G 1: 107,305,338 (GRCm39) N238S probably benign Het
Skor2 A T 18: 76,946,973 (GRCm39) K232* probably null Het
Slc13a5 A T 11: 72,148,214 (GRCm39) W231R probably damaging Het
Svs5 A T 2: 164,175,313 (GRCm39) E55V probably benign Het
Tfcp2 A T 15: 100,423,481 (GRCm39) W142R probably damaging Het
Trpc2 A T 7: 101,744,441 (GRCm39) I738F possibly damaging Het
Vmn2r61 T A 7: 41,916,067 (GRCm39) S227T possibly damaging Het
Zfhx4 A G 3: 5,464,386 (GRCm39) T1540A probably damaging Het
Zfp616 A G 11: 73,962,561 (GRCm39) T74A probably benign 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
R4621:Adap2 UTSW 11 80,064,899 (GRCm39) splice site probably null
R5157:Adap2 UTSW 11 80,047,772 (GRCm39) missense probably damaging 1.00
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'- AGTCTTCTGGGTGAGCCATG -3'
(R):5'- CATGCTGACTTCCACCTAGC -3'

Sequencing Primer
(F):5'- GAGCCATGGTTTCATTTCAAGTTC -3'
(R):5'- GACTTCCACCTAGCTGTGTGG -3'
Posted On 2015-02-05