Incidental Mutation 'R1865:Arap2'
ID 208600
Institutional Source Beutler Lab
Gene Symbol Arap2
Ensembl Gene ENSMUSG00000037999
Gene Name ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2
Synonyms Centd1
MMRRC Submission 039888-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1865 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 62759788-62923502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62855606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 610 (V610A)
Ref Sequence ENSEMBL: ENSMUSP00000075924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076623]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000076623
AA Change: V610A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075924
Gene: ENSMUSG00000037999
AA Change: V610A

DomainStartEndE-ValueType
SAM 3 70 3.69e-7 SMART
low complexity region 222 233 N/A INTRINSIC
PH 481 574 6.45e-17 SMART
PH 586 679 9.05e-12 SMART
ArfGap 684 805 9.2e-33 SMART
PH 891 1003 1.51e-8 SMART
PH 1013 1112 9.21e-4 SMART
RhoGAP 1124 1300 1.36e-50 SMART
Pfam:RA 1325 1416 2.1e-7 PFAM
PH 1429 1533 2.68e-14 SMART
coiled coil region 1561 1590 N/A INTRINSIC
Meta Mutation Damage Score 0.3514 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.3%
Validation Efficiency 98% (99/101)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik A G 1: 158,797,094 (GRCm39) noncoding transcript Het
Aatk G A 11: 119,901,048 (GRCm39) T1059M probably benign Het
Adgrg2 G A X: 159,265,347 (GRCm39) M532I probably benign Het
Agrn GCTCT GCTCTCT 4: 156,250,976 (GRCm39) probably null Het
Ahcyl2 G A 6: 29,908,354 (GRCm39) V575M probably damaging Het
Apobr A G 7: 126,185,140 (GRCm39) D217G probably benign Het
Aqp9 A C 9: 71,019,658 (GRCm39) N267K probably benign Het
Arhgap21 T C 2: 20,866,015 (GRCm39) E893G probably damaging Het
Atn1 T C 6: 124,722,259 (GRCm39) probably benign Het
Bcl7a A T 5: 123,494,032 (GRCm39) D68V probably damaging Het
Cbl A C 9: 44,075,462 (GRCm39) C394W probably damaging Het
Ccdc18 T A 5: 108,341,668 (GRCm39) D854E probably benign Het
Ccdc93 A T 1: 121,426,956 (GRCm39) E580V probably damaging Het
Cd180 T A 13: 102,842,517 (GRCm39) M521K probably benign Het
Cd300ld2 T G 11: 114,903,444 (GRCm39) probably benign Het
Cdh10 T C 15: 18,899,690 (GRCm39) F6L probably benign Het
Cep78 A G 19: 15,933,368 (GRCm39) S737P probably damaging Het
Ces1f G T 8: 94,000,893 (GRCm39) probably benign Het
Clcn1 T A 6: 42,282,475 (GRCm39) D442E probably damaging Het
Col20a1 T C 2: 180,657,606 (GRCm39) L1250P possibly damaging Het
Crispld2 G A 8: 120,737,306 (GRCm39) G19E probably benign Het
Ctbp2 C T 7: 132,592,283 (GRCm39) A849T probably benign Het
Cts6 A G 13: 61,349,393 (GRCm39) I105T probably benign Het
Cul4a A G 8: 13,192,589 (GRCm39) T617A possibly damaging Het
Cyp2c68 G T 19: 39,722,733 (GRCm39) R272S probably benign Het
Cystm1 A G 18: 36,499,729 (GRCm39) Y48C unknown Het
Dach1 T A 14: 98,077,645 (GRCm39) R579S possibly damaging Het
Ddrgk1 A T 2: 130,496,215 (GRCm39) I270N probably damaging Het
Dhx32 A T 7: 133,339,025 (GRCm39) C197S probably benign Het
Dnah10 A C 5: 124,909,590 (GRCm39) probably null Het
Ecm2 T C 13: 49,683,621 (GRCm39) V533A probably benign Het
Eif4g1 A G 16: 20,497,398 (GRCm39) T202A probably damaging Het
Ephb4 A T 5: 137,361,572 (GRCm39) Q525L possibly damaging Het
F2 T C 2: 91,465,539 (GRCm39) D82G probably benign Het
Fam184b G T 5: 45,689,231 (GRCm39) N868K possibly damaging Het
Fbxo25 A G 8: 13,985,248 (GRCm39) T314A probably damaging Het
Folh1 A G 7: 86,375,114 (GRCm39) M624T possibly damaging Het
Gabra5 G A 7: 57,138,940 (GRCm39) R71* probably null Het
Gmpr G T 13: 45,696,101 (GRCm39) V278F probably damaging Het
Hmcn1 A T 1: 150,479,563 (GRCm39) C4634S probably damaging Het
Hspa5 T C 2: 34,664,553 (GRCm39) F336L probably damaging Het
Igfbp4 G A 11: 98,932,512 (GRCm39) G64R probably damaging Het
Itch G A 2: 155,010,666 (GRCm39) V45I probably damaging Het
Itgb1 T A 8: 129,446,938 (GRCm39) F484L probably benign Het
Itpr3 A G 17: 27,338,997 (GRCm39) I2593V probably benign Het
Kcnj8 T A 6: 142,515,966 (GRCm39) H47L probably damaging Het
Lcn2 T C 2: 32,275,434 (GRCm39) T194A possibly damaging Het
Mast4 A T 13: 102,930,625 (GRCm39) V209D probably damaging Het
Matn3 T A 12: 9,002,041 (GRCm39) D84E probably damaging Het
Mcm7 T A 5: 138,168,637 (GRCm39) Q18L possibly damaging Het
Mctp1 G A 13: 76,533,267 (GRCm39) C205Y possibly damaging Het
Megf11 A G 9: 64,587,581 (GRCm39) T460A probably benign Het
Mlh1 A T 9: 111,086,092 (GRCm39) probably benign Het
Mylk T A 16: 34,732,600 (GRCm39) S627T probably benign Het
Nat2 A G 8: 67,954,204 (GRCm39) M105V possibly damaging Het
Nav2 A G 7: 49,197,943 (GRCm39) T2A possibly damaging Het
Ndst3 A T 3: 123,465,120 (GRCm39) I284N probably damaging Het
Nfix A G 8: 85,498,904 (GRCm39) V23A possibly damaging Het
Nr2f1 T C 13: 78,338,045 (GRCm39) Y200C probably damaging Het
Or14a258 T C 7: 86,035,769 (GRCm39) Y33C probably damaging Het
Or2g25 T C 17: 37,970,754 (GRCm39) I157V possibly damaging Het
Or6b13 G A 7: 139,782,285 (GRCm39) R133C probably damaging Het
Or8d1b T C 9: 38,887,200 (GRCm39) V76A probably benign Het
Or8u8 T G 2: 86,011,882 (GRCm39) D191A probably damaging Het
Pcdhb21 T C 18: 37,647,648 (GRCm39) V259A possibly damaging Het
Phip A T 9: 82,827,845 (GRCm39) V127E probably damaging Het
Pik3r5 A G 11: 68,383,318 (GRCm39) D379G probably damaging Het
Pkdrej A T 15: 85,704,525 (GRCm39) C470* probably null Het
Plxnd1 A T 6: 115,946,402 (GRCm39) probably null Het
Polr1a G A 6: 71,943,508 (GRCm39) V1248I probably damaging Het
Pou3f2 A T 4: 22,486,917 (GRCm39) C405* probably null Het
Ppp1r3a A T 6: 14,718,404 (GRCm39) S837T probably damaging Het
Rest T A 5: 77,428,745 (GRCm39) V388E probably damaging Het
Rnft2 A T 5: 118,370,540 (GRCm39) W220R probably damaging Het
Rnpc3 A T 3: 113,415,559 (GRCm39) Y107* probably null Het
Senp8 G A 9: 59,644,835 (GRCm39) S94F probably damaging Het
Ski A G 4: 155,306,698 (GRCm39) S94P possibly damaging Het
Skint8 A G 4: 111,794,192 (GRCm39) D194G probably damaging Het
Slc35c2 C A 2: 165,120,303 (GRCm39) R232L probably benign Het
Slc43a3 T A 2: 84,777,245 (GRCm39) V198D possibly damaging Het
Slc8b1 A T 5: 120,667,717 (GRCm39) N467I probably damaging Het
Srbd1 A G 17: 86,422,732 (GRCm39) probably benign Het
Sstr3 T C 15: 78,424,168 (GRCm39) H193R probably damaging Het
Sv2c A C 13: 96,113,283 (GRCm39) S555R probably benign Het
Tagln3 A G 16: 45,532,013 (GRCm39) V173A possibly damaging Het
Tctn2 C A 5: 124,757,143 (GRCm39) noncoding transcript Het
Tfap2a G T 13: 40,881,884 (GRCm39) H167Q probably damaging Het
Tmem213 A G 6: 38,086,487 (GRCm39) T48A possibly damaging Het
Tmem30c A G 16: 57,090,352 (GRCm39) probably benign Het
Tmem37 A G 1: 119,995,952 (GRCm39) S42P probably damaging Het
Tnxb C T 17: 34,922,431 (GRCm39) Q2415* probably null Het
Ttyh1 T C 7: 4,122,730 (GRCm39) L26P probably damaging Het
Ubn2 T A 6: 38,417,425 (GRCm39) D154E possibly damaging Het
Vdac3 A T 8: 23,070,553 (GRCm39) Y119* probably null Het
Vmn2r58 T C 7: 41,486,682 (GRCm39) I738V possibly damaging Het
Zfp704 A G 3: 9,539,551 (GRCm39) probably benign Het
Znfx1 G A 2: 166,880,729 (GRCm39) R352W probably damaging Het
Other mutations in Arap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Arap2 APN 5 62,793,305 (GRCm39) missense probably damaging 1.00
IGL00642:Arap2 APN 5 62,890,401 (GRCm39) nonsense probably null
IGL00705:Arap2 APN 5 62,835,366 (GRCm39) missense probably damaging 1.00
IGL00942:Arap2 APN 5 62,855,732 (GRCm39) nonsense probably null
IGL01069:Arap2 APN 5 62,807,199 (GRCm39) missense probably benign
IGL01601:Arap2 APN 5 62,798,685 (GRCm39) missense probably damaging 1.00
IGL01986:Arap2 APN 5 62,779,265 (GRCm39) missense probably damaging 1.00
IGL02032:Arap2 APN 5 62,828,340 (GRCm39) missense probably damaging 0.99
IGL02262:Arap2 APN 5 62,800,184 (GRCm39) missense probably damaging 1.00
IGL02331:Arap2 APN 5 62,807,025 (GRCm39) splice site probably benign
IGL02527:Arap2 APN 5 62,906,650 (GRCm39) missense probably benign
IGL02803:Arap2 APN 5 62,906,452 (GRCm39) missense probably benign
IGL02864:Arap2 APN 5 62,835,308 (GRCm39) missense probably damaging 1.00
IGL03078:Arap2 APN 5 62,890,408 (GRCm39) splice site probably benign
IGL03154:Arap2 APN 5 62,800,268 (GRCm39) missense probably damaging 1.00
IGL03213:Arap2 APN 5 62,906,438 (GRCm39) missense probably benign 0.00
IGL03279:Arap2 APN 5 62,779,253 (GRCm39) missense probably damaging 1.00
IGL03288:Arap2 APN 5 62,761,959 (GRCm39) missense probably benign 0.00
PIT4354001:Arap2 UTSW 5 62,811,392 (GRCm39) missense probably damaging 1.00
R0012:Arap2 UTSW 5 62,840,827 (GRCm39) missense probably damaging 1.00
R0013:Arap2 UTSW 5 62,840,827 (GRCm39) missense probably damaging 1.00
R0013:Arap2 UTSW 5 62,840,827 (GRCm39) missense probably damaging 1.00
R0166:Arap2 UTSW 5 62,833,361 (GRCm39) missense probably damaging 1.00
R0472:Arap2 UTSW 5 62,864,002 (GRCm39) missense probably damaging 1.00
R0506:Arap2 UTSW 5 62,763,474 (GRCm39) missense possibly damaging 0.87
R0551:Arap2 UTSW 5 62,798,666 (GRCm39) splice site probably null
R0607:Arap2 UTSW 5 62,763,474 (GRCm39) missense possibly damaging 0.87
R0617:Arap2 UTSW 5 62,807,250 (GRCm39) splice site probably benign
R0975:Arap2 UTSW 5 62,888,229 (GRCm39) splice site probably benign
R0976:Arap2 UTSW 5 62,807,227 (GRCm39) missense probably damaging 1.00
R1164:Arap2 UTSW 5 62,840,820 (GRCm39) missense probably damaging 1.00
R1268:Arap2 UTSW 5 62,887,964 (GRCm39) missense probably benign 0.00
R1480:Arap2 UTSW 5 62,826,472 (GRCm39) nonsense probably null
R1502:Arap2 UTSW 5 62,761,747 (GRCm39) missense probably benign 0.00
R1543:Arap2 UTSW 5 62,763,498 (GRCm39) nonsense probably null
R1962:Arap2 UTSW 5 62,834,007 (GRCm39) missense possibly damaging 0.82
R2040:Arap2 UTSW 5 62,906,259 (GRCm39) missense probably damaging 0.99
R2118:Arap2 UTSW 5 62,864,028 (GRCm39) missense probably damaging 1.00
R2131:Arap2 UTSW 5 62,835,301 (GRCm39) missense probably damaging 1.00
R2201:Arap2 UTSW 5 62,864,028 (GRCm39) missense probably damaging 1.00
R2215:Arap2 UTSW 5 62,834,519 (GRCm39) missense probably damaging 1.00
R3027:Arap2 UTSW 5 62,827,240 (GRCm39) missense probably damaging 1.00
R3053:Arap2 UTSW 5 62,906,200 (GRCm39) missense probably benign 0.35
R3975:Arap2 UTSW 5 62,906,237 (GRCm39) missense possibly damaging 0.87
R4272:Arap2 UTSW 5 62,828,322 (GRCm39) missense possibly damaging 0.63
R4273:Arap2 UTSW 5 62,828,322 (GRCm39) missense possibly damaging 0.63
R4326:Arap2 UTSW 5 62,779,206 (GRCm39) missense possibly damaging 0.50
R4327:Arap2 UTSW 5 62,779,206 (GRCm39) missense possibly damaging 0.50
R4328:Arap2 UTSW 5 62,779,206 (GRCm39) missense possibly damaging 0.50
R4451:Arap2 UTSW 5 62,906,513 (GRCm39) missense probably benign 0.06
R4659:Arap2 UTSW 5 62,811,469 (GRCm39) missense possibly damaging 0.94
R4665:Arap2 UTSW 5 62,827,312 (GRCm39) missense possibly damaging 0.95
R4715:Arap2 UTSW 5 62,906,437 (GRCm39) missense probably benign 0.43
R4808:Arap2 UTSW 5 62,887,984 (GRCm39) missense probably benign 0.23
R4941:Arap2 UTSW 5 62,906,821 (GRCm39) missense probably benign 0.20
R4983:Arap2 UTSW 5 62,833,868 (GRCm39) missense probably damaging 0.98
R5095:Arap2 UTSW 5 62,811,392 (GRCm39) missense probably damaging 1.00
R5156:Arap2 UTSW 5 62,826,524 (GRCm39) nonsense probably null
R5201:Arap2 UTSW 5 62,840,832 (GRCm39) missense probably damaging 1.00
R5346:Arap2 UTSW 5 62,872,089 (GRCm39) missense probably benign 0.39
R5359:Arap2 UTSW 5 62,840,762 (GRCm39) nonsense probably null
R5426:Arap2 UTSW 5 62,800,159 (GRCm39) missense probably benign 0.02
R5503:Arap2 UTSW 5 62,787,529 (GRCm39) missense probably damaging 1.00
R5605:Arap2 UTSW 5 62,772,410 (GRCm39) missense possibly damaging 0.47
R5764:Arap2 UTSW 5 62,800,197 (GRCm39) missense probably damaging 1.00
R5813:Arap2 UTSW 5 62,834,506 (GRCm39) missense probably damaging 1.00
R5846:Arap2 UTSW 5 62,807,116 (GRCm39) missense probably damaging 1.00
R6084:Arap2 UTSW 5 62,828,297 (GRCm39) missense possibly damaging 0.89
R6173:Arap2 UTSW 5 62,906,965 (GRCm39) missense probably damaging 1.00
R6175:Arap2 UTSW 5 62,872,074 (GRCm39) critical splice donor site probably null
R6249:Arap2 UTSW 5 62,803,536 (GRCm39) missense probably damaging 0.99
R6386:Arap2 UTSW 5 62,761,865 (GRCm39) missense possibly damaging 0.89
R6424:Arap2 UTSW 5 62,840,707 (GRCm39) missense probably damaging 1.00
R6744:Arap2 UTSW 5 62,906,281 (GRCm39) missense probably damaging 1.00
R6766:Arap2 UTSW 5 62,834,443 (GRCm39) critical splice donor site probably null
R6990:Arap2 UTSW 5 62,833,860 (GRCm39) missense probably damaging 0.96
R7067:Arap2 UTSW 5 62,811,387 (GRCm39) critical splice donor site probably null
R7098:Arap2 UTSW 5 62,833,293 (GRCm39) critical splice donor site probably null
R7107:Arap2 UTSW 5 62,763,551 (GRCm39) missense probably damaging 0.98
R7156:Arap2 UTSW 5 62,761,914 (GRCm39) missense probably damaging 1.00
R7174:Arap2 UTSW 5 62,761,621 (GRCm39) missense probably benign
R7187:Arap2 UTSW 5 62,826,396 (GRCm39) missense probably damaging 0.99
R7197:Arap2 UTSW 5 62,798,729 (GRCm39) missense possibly damaging 0.89
R7214:Arap2 UTSW 5 62,906,681 (GRCm39) missense probably benign 0.00
R7317:Arap2 UTSW 5 62,807,067 (GRCm39) missense probably damaging 1.00
R7392:Arap2 UTSW 5 62,855,728 (GRCm39) missense possibly damaging 0.54
R7438:Arap2 UTSW 5 62,906,818 (GRCm39) missense probably damaging 0.99
R7452:Arap2 UTSW 5 62,833,892 (GRCm39) missense probably benign 0.00
R7495:Arap2 UTSW 5 62,833,893 (GRCm39) missense possibly damaging 0.78
R7796:Arap2 UTSW 5 62,888,105 (GRCm39) missense probably damaging 1.00
R7936:Arap2 UTSW 5 62,888,048 (GRCm39) missense probably damaging 0.96
R8116:Arap2 UTSW 5 62,887,954 (GRCm39) missense probably benign 0.00
R8172:Arap2 UTSW 5 62,779,324 (GRCm39) splice site probably null
R8277:Arap2 UTSW 5 62,771,335 (GRCm39) critical splice donor site probably null
R8369:Arap2 UTSW 5 62,761,669 (GRCm39) nonsense probably null
R8398:Arap2 UTSW 5 62,906,252 (GRCm39) missense probably damaging 1.00
R8893:Arap2 UTSW 5 62,888,037 (GRCm39) missense probably damaging 1.00
R8973:Arap2 UTSW 5 62,855,668 (GRCm39) nonsense probably null
R9102:Arap2 UTSW 5 62,906,341 (GRCm39) missense probably benign 0.03
R9121:Arap2 UTSW 5 62,906,326 (GRCm39) missense possibly damaging 0.84
R9174:Arap2 UTSW 5 62,855,606 (GRCm39) missense probably damaging 1.00
R9222:Arap2 UTSW 5 62,828,421 (GRCm39) missense possibly damaging 0.96
R9281:Arap2 UTSW 5 62,906,848 (GRCm39) missense probably damaging 0.97
R9399:Arap2 UTSW 5 62,763,455 (GRCm39) missense possibly damaging 0.62
R9450:Arap2 UTSW 5 62,855,762 (GRCm39) missense probably benign 0.16
R9467:Arap2 UTSW 5 62,887,900 (GRCm39) missense probably benign 0.00
R9567:Arap2 UTSW 5 62,761,841 (GRCm39) missense probably benign 0.01
R9577:Arap2 UTSW 5 62,769,060 (GRCm39) missense probably damaging 1.00
R9626:Arap2 UTSW 5 62,906,878 (GRCm39) missense probably benign 0.00
R9688:Arap2 UTSW 5 62,872,109 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CACAGCAGTCAACCAGATTTTC -3'
(R):5'- GCATCTGTACATTGGCTTCAGAG -3'

Sequencing Primer
(F):5'- GCTAAGCACAGTCGCTAT -3'
(R):5'- TCAGAGCAAGATCTTAGGTTGATAC -3'
Posted On 2014-06-30