Incidental Mutation 'R7392:Arap2'
ID 573500
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 045474-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7392 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 62759788-62923502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62855728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 569 (S569R)
Ref Sequence ENSEMBL: ENSMUSP00000075924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076623]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000076623
AA Change: S569R

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000075924
Gene: ENSMUSG00000037999
AA Change: S569R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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 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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,990 (GRCm39) F564L probably damaging Het
Abcc2 T C 19: 43,797,126 (GRCm39) I499T probably damaging Het
Adamts13 C T 2: 26,879,336 (GRCm39) R630C probably damaging Het
Adgrv1 A T 13: 81,708,808 (GRCm39) F1199I probably damaging Het
Agbl5 G A 5: 31,048,115 (GRCm39) probably null Het
Anks1b A G 10: 90,516,648 (GRCm39) D881G possibly damaging Het
Arhgap15 T C 2: 43,953,786 (GRCm39) S171P possibly damaging Het
Arhgef11 G A 3: 87,624,482 (GRCm39) probably null Het
Baz1a C A 12: 54,945,550 (GRCm39) L1271F probably damaging Het
Bdnf A C 2: 109,554,275 (GRCm39) K216N probably benign Het
Bmp7 C T 2: 172,711,998 (GRCm39) D409N probably damaging Het
Bnip5 A T 17: 29,127,351 (GRCm39) D219E probably benign Het
Cacna1c T A 6: 118,718,881 (GRCm39) I390F Het
Chd8 A G 14: 52,470,312 (GRCm39) S433P probably benign Het
Clrn2 A G 5: 45,621,251 (GRCm39) E215G possibly damaging Het
Col19a1 T G 1: 24,573,115 (GRCm39) D219A unknown Het
Col2a1 G A 15: 97,878,032 (GRCm39) R1036* probably null Het
Copg1 T A 6: 87,867,257 (GRCm39) V110D probably benign Het
Cpd C T 11: 76,692,605 (GRCm39) G744D probably damaging Het
Crygs G A 16: 22,625,252 (GRCm39) P63L probably benign Het
Dcn A G 10: 97,345,860 (GRCm39) D224G probably damaging Het
Dnah7a T C 1: 53,540,820 (GRCm39) E2518G probably benign Het
Efcab6 C A 15: 83,873,152 (GRCm39) R197L probably benign Het
Efr3b T A 12: 4,019,588 (GRCm39) Y723F probably benign Het
Enam A G 5: 88,649,523 (GRCm39) N344S probably damaging Het
Erich4 A G 7: 25,315,101 (GRCm39) I58T possibly damaging Het
Esrp1 A G 4: 11,338,809 (GRCm39) V665A probably benign Het
Etf1 G A 18: 35,039,103 (GRCm39) T388I probably benign Het
Faf1 A G 4: 109,652,040 (GRCm39) T244A probably benign Het
Fbn1 T C 2: 125,185,844 (GRCm39) D1610G probably damaging Het
Fcgbpl1 C T 7: 27,863,797 (GRCm39) T2523M possibly damaging Het
Frem1 G T 4: 82,932,064 (GRCm39) F212L probably benign Het
Fuom T A 7: 139,681,073 (GRCm39) D85V probably damaging Het
Gcfc2 T C 6: 81,919,993 (GRCm39) probably null Het
Gpr37 C T 6: 25,688,786 (GRCm39) A104T probably benign Het
Hsp90ab1 G C 17: 45,879,974 (GRCm39) T514S probably benign Het
Ifnl2 A G 7: 28,209,094 (GRCm39) F74L probably benign Het
Ipo11 G A 13: 107,028,199 (GRCm39) R367* probably null Het
Itpr2 T C 6: 146,260,838 (GRCm39) D963G possibly damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Lrch3 T A 16: 32,807,125 (GRCm39) L466* probably null Het
Lrfn5 A T 12: 61,887,090 (GRCm39) T293S probably benign Het
Lrp5 A G 19: 3,660,199 (GRCm39) I955T probably damaging Het
Lrrc4b C T 7: 44,111,439 (GRCm39) T437M probably damaging Het
Man1a A G 10: 53,795,283 (GRCm39) Y657H probably damaging Het
Mapkap1 G T 2: 34,325,166 (GRCm39) R94L probably damaging Het
Mtmr4 T A 11: 87,495,383 (GRCm39) L480Q probably damaging Het
Mycbp2 T C 14: 103,389,627 (GRCm39) I3504M probably damaging Het
Mycbp2 A T 14: 103,480,564 (GRCm39) C1169S probably damaging Het
Myo15a T C 11: 60,396,802 (GRCm39) S1455P Het
Niban1 A G 1: 151,571,975 (GRCm39) T307A probably damaging Het
Nid2 A G 14: 19,818,724 (GRCm39) D406G probably benign Het
Nrip2 A G 6: 128,381,913 (GRCm39) I69V probably benign Het
Nthl1 G A 17: 24,857,598 (GRCm39) V266I probably benign Het
Or2ag16 T C 7: 106,352,589 (GRCm39) E2G possibly damaging Het
Or5an6 G T 19: 12,371,829 (GRCm39) L67F probably damaging Het
Or5b21 A G 19: 12,839,951 (GRCm39) T271A probably benign Het
Or5g23 A C 2: 85,438,832 (GRCm39) C141G possibly damaging Het
Or5p75-ps1 C A 7: 108,107,291 (GRCm39) H9Q possibly damaging Het
Or8k25 A G 2: 86,243,496 (GRCm39) V300A probably benign Het
Or8s5 A G 15: 98,238,192 (GRCm39) V226A probably benign Het
Pcdhb1 A C 18: 37,398,171 (GRCm39) S41R possibly damaging Het
Pdcd11 T A 19: 47,116,436 (GRCm39) F1529I probably damaging Het
Plcd3 C A 11: 102,992,383 (GRCm39) probably benign Het
Qdpr T C 5: 45,596,718 (GRCm39) M149V probably benign Het
R3hcc1 T A 14: 69,943,329 (GRCm39) probably null Het
Rasgrf2 T C 13: 92,041,856 (GRCm39) Y392C Het
Slc8a3 A C 12: 81,361,577 (GRCm39) V414G probably damaging Het
Slco1a6 A G 6: 142,103,003 (GRCm39) S54P probably benign Het
Sos1 C A 17: 80,731,629 (GRCm39) V624F probably damaging Het
Spdef T C 17: 27,936,262 (GRCm39) D227G probably benign Het
Sptb G T 12: 76,671,003 (GRCm39) Q447K probably damaging Het
Srsf12 A T 4: 33,209,265 (GRCm39) R62W unknown Het
Stag3 T C 5: 138,289,628 (GRCm39) L266P probably damaging Het
Sult2b1 T C 7: 45,391,862 (GRCm39) probably benign Het
Taf1a A G 1: 183,190,095 (GRCm39) T66A Het
Tfg A T 16: 56,532,972 (GRCm39) probably null Het
Trim34b A G 7: 103,985,604 (GRCm39) N413S probably benign Het
Txndc15 T A 13: 55,869,399 (GRCm39) M184K probably damaging Het
Umodl1 A C 17: 31,201,306 (GRCm39) S412R probably damaging Het
Zbtb8b T A 4: 129,326,683 (GRCm39) M161L probably benign Het
Zfp597 A T 16: 3,684,369 (GRCm39) V129E probably benign Het
Zfp790 T C 7: 29,528,050 (GRCm39) I245T possibly 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
R1865:Arap2 UTSW 5 62,855,606 (GRCm39) missense probably damaging 0.97
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
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'- CACAGTCGCTATCATTAAAGAAGAGC -3'
(R):5'- AAGGTCATCATCCTGGCTCC -3'

Sequencing Primer
(F):5'- TCGCTATCATTAAAGAAGAGCAATTC -3'
(R):5'- TCCAGGGCATCTGCATAGG -3'
Posted On 2019-09-13