Incidental Mutation 'R9467:Arap2'
ID 715197
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9467 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 62759788-62923502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62887900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 482 (E482G)
Ref Sequence ENSEMBL: ENSMUSP00000075924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076623]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000076623
AA Change: E482G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000075924
Gene: ENSMUSG00000037999
AA Change: E482G

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: 99.5%
  • 20x: 98.4%
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 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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A C 2: 68,423,934 (GRCm39) M46L Het
Aars2 A G 17: 45,827,410 (GRCm39) E484G probably benign Het
Abcd2 C T 15: 91,075,825 (GRCm39) probably benign Het
Acap2 A G 16: 30,929,901 (GRCm39) S361P possibly damaging Het
Axin2 G T 11: 108,833,782 (GRCm39) L576F possibly damaging Het
B4galt2 T A 4: 117,738,123 (GRCm39) Y161F probably damaging Het
Cdh3 A T 8: 107,266,425 (GRCm39) probably null Het
Cfap61 A T 2: 145,971,149 (GRCm39) I920F probably benign Het
Chaf1b T C 16: 93,681,394 (GRCm39) I4T probably benign Het
Clptm1 T C 7: 19,371,449 (GRCm39) N328S probably benign Het
Cthrc1 A G 15: 38,947,689 (GRCm39) N136S probably benign Het
Dlec1 G T 9: 118,971,652 (GRCm39) R1279L probably damaging Het
Dnah5 A T 15: 28,366,293 (GRCm39) T2669S possibly damaging Het
Efcab14 C A 4: 115,610,208 (GRCm39) L190I probably damaging Het
Eml6 A T 11: 29,769,076 (GRCm39) C690S probably damaging Het
Fignl1 T C 11: 11,751,483 (GRCm39) E524G probably damaging Het
Fmo4 A G 1: 162,631,238 (GRCm39) V243A probably benign Het
Ghr A G 15: 3,357,506 (GRCm39) V254A probably benign Het
Igkv8-28 A G 6: 70,120,691 (GRCm39) V84A probably damaging Het
Itgb7 T C 15: 102,131,989 (GRCm39) D198G probably damaging Het
Klra2 A G 6: 131,197,070 (GRCm39) probably null Het
Klrc2 A T 6: 129,633,363 (GRCm39) Y230N probably damaging Het
Lacc1 A G 14: 77,267,024 (GRCm39) V413A probably damaging Het
Muc16 T C 9: 18,508,331 (GRCm39) N6355S probably benign Het
Ncor1 AGCTGCTGCTGCTGCTGCTGCTGCTG AGCTGCTGCTGCTGCTGCTGCTGCTGCTG 11: 62,324,437 (GRCm39) probably benign Het
Ncor1 CTG CTGGTG 11: 62,324,448 (GRCm39) probably benign Het
Ndn A G 7: 61,998,903 (GRCm39) K250E possibly damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nt5e A G 9: 88,249,416 (GRCm39) E450G probably benign Het
Or4d6 A T 19: 12,086,313 (GRCm39) M199K possibly damaging Het
Or5p75-ps1 T A 7: 108,107,790 (GRCm39) *176K probably null Het
Or8k16 G T 2: 85,520,626 (GRCm39) M284I Het
Palld A G 8: 61,968,264 (GRCm39) S1343P unknown Het
Pcdha8 T A 18: 37,126,843 (GRCm39) S442T possibly damaging Het
Pole2 T C 12: 69,255,719 (GRCm39) I349V probably benign Het
Ptprb C T 10: 116,158,390 (GRCm39) T487M probably benign Het
Ptprc C T 1: 137,993,960 (GRCm39) D1020N probably damaging Het
Relch C T 1: 105,669,039 (GRCm39) T1023I probably damaging Het
Rnf26rt C T 6: 76,473,615 (GRCm39) E334K probably benign Het
Rsf1 GCGGCGGCG GCGGCGGCGACGGCGGCG 7: 97,229,120 (GRCm39) probably benign Het
Ryr2 T C 13: 11,571,490 (GRCm39) N4916S possibly damaging Het
Selp C T 1: 163,957,674 (GRCm39) P268S probably damaging Het
Sema7a T A 9: 57,864,608 (GRCm39) C333S probably damaging Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sh2b1 CAGCCACGGGGACCAGCT CAGCCACGGGGACCAGCTAAGCCACGGGGACCAGCT 7: 126,066,754 (GRCm39) probably null Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Shisa5 G A 9: 108,867,712 (GRCm39) probably benign Het
Snx27 A G 3: 94,489,723 (GRCm39) V45A possibly damaging Het
Srcap T C 7: 127,139,531 (GRCm39) V1284A probably damaging Het
Ssrp1 A G 2: 84,872,610 (GRCm39) D416G probably damaging Het
Tcstv1b C T 13: 120,634,061 (GRCm39) probably benign Het
Tectb A G 19: 55,181,093 (GRCm39) Y144C Het
Thap12 G T 7: 98,359,348 (GRCm39) V76F probably damaging Het
Ticam2 G C 18: 46,693,748 (GRCm39) P113R probably damaging Het
Tsg101 A G 7: 46,558,772 (GRCm39) Y80H probably benign Het
Unc5cl T A 17: 48,770,656 (GRCm39) M368K probably damaging Het
Utp20 G T 10: 88,640,390 (GRCm39) Q717K possibly damaging Het
Vmn1r159 T A 7: 22,542,141 (GRCm39) D297V possibly damaging Het
Vmn2r98 G T 17: 19,287,517 (GRCm39) S450I probably benign Het
Zbtb8b T C 4: 129,326,319 (GRCm39) E282G probably benign Het
Zfp831 T C 2: 174,486,789 (GRCm39) V488A probably benign Het
Zng1 T A 19: 24,930,684 (GRCm39) M122L possibly damaging Het
Zzef1 G A 11: 72,807,251 (GRCm39) V2710I 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
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
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
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'- TGCAAACTTTATATGCCCCAGTACAG -3'
(R):5'- TCCACAGTAGAGGAATGCTTC -3'

Sequencing Primer
(F):5'- GACTTTTGGTATAGCATTGGAAATG -3'
(R):5'- TTGGACCCCTTCAATAGG -3'
Posted On 2022-06-15