Incidental Mutation 'R4665:Arap2'
ID 351819
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 041923-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4665 (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 62827312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 969 (F969L)
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: F969L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075924
Gene: ENSMUSG00000037999
AA Change: F969L

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 0.3468 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (89/90)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T A 6: 86,902,059 (GRCm39) M76K probably null Het
Abcc4 A G 14: 118,766,414 (GRCm39) I886T probably benign Het
Adam6a T C 12: 113,507,992 (GRCm39) Y122H possibly damaging Het
Adgre1 A G 17: 57,787,947 (GRCm39) T905A probably benign Het
Arhgef4 G T 1: 34,845,113 (GRCm39) G1439V possibly damaging Het
Atm A G 9: 53,375,529 (GRCm39) W2097R probably benign Het
Atmin A G 8: 117,684,698 (GRCm39) D786G probably damaging Het
AU016765 T A 17: 64,826,916 (GRCm39) noncoding transcript Het
Capn1 A T 19: 6,061,045 (GRCm39) N253K probably benign Het
Cdc42bpa A G 1: 179,972,130 (GRCm39) T527A probably damaging Het
Chmp7 A T 14: 69,958,404 (GRCm39) V255D probably damaging Het
Cldn12 A G 5: 5,558,385 (GRCm39) F14S probably damaging Het
Cpsf2 T C 12: 101,949,466 (GRCm39) S61P probably damaging Het
Cpvl C T 6: 53,908,918 (GRCm39) E282K probably benign Het
Crygn T A 5: 24,956,019 (GRCm39) probably benign Het
Csde1 C T 3: 102,954,388 (GRCm39) T386M probably damaging Het
Cux1 G A 5: 136,315,653 (GRCm39) T1129I probably damaging Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dhx16 T C 17: 36,190,835 (GRCm39) V11A probably damaging Het
Dnah10 T C 5: 124,905,536 (GRCm39) M4060T possibly damaging Het
Duox1 C T 2: 122,149,956 (GRCm39) P116S probably benign Het
Eif5b A G 1: 38,084,793 (GRCm39) E880G probably damaging Het
Eml6 A T 11: 29,769,007 (GRCm39) Y67* probably null Het
Faim2 C A 15: 99,422,581 (GRCm39) probably null Het
Faim2 T G 15: 99,422,582 (GRCm39) S72R probably benign Het
Fanca T C 8: 123,995,711 (GRCm39) T1364A probably damaging Het
Fhip1a A T 3: 85,637,988 (GRCm39) W104R probably damaging Het
Gak A G 5: 108,730,826 (GRCm39) I860T probably benign Het
Garem2 C A 5: 30,319,665 (GRCm39) R376S probably damaging Het
Gdf2 A G 14: 33,667,408 (GRCm39) T377A probably damaging Het
Gm2431 A T 7: 141,811,440 (GRCm39) C155S unknown Het
Gm5814 A G 17: 47,721,288 (GRCm39) M1V probably null Het
Gm5901 C G 7: 105,026,438 (GRCm39) Q69E possibly damaging Het
Gm9945 A G 11: 53,371,202 (GRCm39) probably benign Het
Gmps T C 3: 63,908,956 (GRCm39) V486A probably benign Het
Gtf2ird1 T A 5: 134,412,756 (GRCm39) E55V probably damaging Het
Hoxa11 T A 6: 52,220,483 (GRCm39) N267Y probably damaging Het
Ifngr2 C A 16: 91,356,926 (GRCm39) H153Q possibly damaging Het
Ift172 G T 5: 31,442,598 (GRCm39) Q190K possibly damaging Het
Iqch A G 9: 63,352,853 (GRCm39) V899A probably damaging Het
Lactb2 T C 1: 13,717,624 (GRCm39) E133G probably damaging Het
Lig3 G A 11: 82,691,076 (GRCm39) V110M probably damaging Het
Lin54 C A 5: 100,600,943 (GRCm39) Q262H possibly damaging Het
Lingo3 G A 10: 80,671,372 (GRCm39) T186I probably damaging Het
Lrrc7 GAAGTTGTTTGGAGATTCTTATCTTA GA 3: 158,024,045 (GRCm39) probably benign Het
Ly86 T A 13: 37,559,010 (GRCm39) F70I probably damaging Het
Mospd2 A T X: 163,730,329 (GRCm39) S301T probably benign Het
Mroh2a A C 1: 88,169,340 (GRCm39) I672L probably benign Het
Myo15a A T 11: 60,395,705 (GRCm39) probably null Het
Nme8 C G 13: 19,858,605 (GRCm39) A78P probably damaging Het
Obscn C T 11: 59,015,578 (GRCm39) V965M probably damaging Het
Or10ag57 T A 2: 87,218,220 (GRCm39) I57K probably damaging Het
Parn T C 16: 13,358,967 (GRCm39) K592E probably benign Het
Pax6 C A 2: 105,514,343 (GRCm39) probably benign Het
Pdcd6 A T 13: 74,465,325 (GRCm39) M1K probably null Het
Pex11b T C 3: 96,551,151 (GRCm39) L198P possibly damaging Het
Phldb3 C T 7: 24,310,852 (GRCm39) A28V probably benign Het
Pkn3 C A 2: 29,975,469 (GRCm39) probably benign Het
Pknox1 T C 17: 31,814,300 (GRCm39) probably null Het
Ptprg A C 14: 12,215,288 (GRCm38) I1092L possibly damaging Het
Pxylp1 A C 9: 96,707,338 (GRCm39) I281M probably damaging Het
Ramac C T 7: 81,418,178 (GRCm39) R78W probably damaging Het
Retreg2 G T 1: 75,121,310 (GRCm39) L195F probably damaging Het
Rgs20 G C 1: 5,091,231 (GRCm39) F66L probably benign Het
Ripk4 C T 16: 97,556,273 (GRCm39) V157I probably damaging Het
Ryr2 T C 13: 11,765,571 (GRCm39) probably null Het
Scaper A T 9: 55,819,339 (GRCm39) S125R probably damaging Het
Sec16a C T 2: 26,302,970 (GRCm39) probably benign Het
Slc35f6 T C 5: 30,812,957 (GRCm39) L37P probably damaging Het
Slc6a12 T A 6: 121,335,972 (GRCm39) probably benign Het
Slc9a5 A G 8: 106,094,760 (GRCm39) K784E probably damaging Het
Snd1 T C 6: 28,707,053 (GRCm39) V455A probably damaging Het
Ssbp2 A T 13: 91,687,454 (GRCm39) I46L possibly damaging Het
Stil A G 4: 114,898,841 (GRCm39) D1157G probably benign Het
Tax1bp1 T A 6: 52,714,116 (GRCm39) C271S probably benign Het
Tdpoz6 G A 3: 93,599,776 (GRCm39) H198Y probably damaging Het
Tdrd6 T A 17: 43,935,007 (GRCm39) M2014L probably benign Het
Thsd7a T A 6: 12,504,012 (GRCm39) I381F possibly damaging Het
Thsd7a T A 6: 12,337,313 (GRCm39) T1235S possibly damaging Het
Tmprss11d T C 5: 86,457,260 (GRCm39) D133G probably damaging Het
Tpr C T 1: 150,320,150 (GRCm39) R2233W probably damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vgll1 A G X: 56,137,792 (GRCm39) R54G possibly damaging Het
Wdr72 A G 9: 74,117,306 (GRCm39) T673A probably benign Het
Zfp169 C T 13: 48,644,339 (GRCm39) probably benign Het
Zfp319 G A 8: 96,052,201 (GRCm39) probably benign 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
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'- TCACGGAGCTTTGAACCTC -3'
(R):5'- GAGGGATGCCGATCTACAATATC -3'

Sequencing Primer
(F):5'- CGGAGCTTTGAACCTCAACTATAG -3'
(R):5'- GGATGCCGATCTACAATATCTTACTG -3'
Posted On 2015-10-08