Incidental Mutation 'R4715:Arap2'
ID 353939
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 041982-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4715 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 62759788-62923502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 62906437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 194 (T194K)
Ref Sequence ENSEMBL: ENSMUSP00000075924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076623] [ENSMUST00000159470]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000076623
AA Change: T194K

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000075924
Gene: ENSMUSG00000037999
AA Change: T194K

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
Predicted Effect probably benign
Transcript: ENSMUST00000159470
SMART Domains Protein: ENSMUSP00000124743
Gene: ENSMUSG00000037999

DomainStartEndE-ValueType
SAM 3 70 3.69e-7 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 92% (86/93)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A C 19: 43,805,321 (GRCm39) E725A possibly damaging Het
Abcc5 G T 16: 20,217,626 (GRCm39) L362I probably damaging Het
Ammecr1l C T 18: 31,907,706 (GRCm39) R179* probably null Het
Atf2 C A 2: 73,653,644 (GRCm39) V282F probably damaging Het
Atosa T A 9: 74,920,250 (GRCm39) W799R probably damaging Het
Atp1a1 T C 3: 101,499,122 (GRCm39) E159G possibly damaging Het
B4galt2 T C 4: 117,734,376 (GRCm39) S258G possibly damaging Het
Bptf G T 11: 106,938,007 (GRCm39) H2695N probably damaging Het
Casq2 T C 3: 102,017,560 (GRCm39) V80A probably benign Het
Cdc42ep3 G A 17: 79,642,887 (GRCm39) A11V probably benign Het
Cdh4 A T 2: 179,422,260 (GRCm39) H128L probably benign Het
Cdk5rap1 C A 2: 154,203,755 (GRCm39) *191L probably null Het
Cfdp1 G A 8: 112,557,523 (GRCm39) T206I probably benign Het
Cgn C A 3: 94,686,748 (GRCm39) G185W probably damaging Het
Clpx A C 9: 65,219,396 (GRCm39) R231S possibly damaging Het
Copg1 T A 6: 87,889,268 (GRCm39) L870* probably null Het
Cyp4a10 A T 4: 115,382,535 (GRCm39) D275V probably benign Het
Dip2a T C 10: 76,132,240 (GRCm39) T504A probably benign Het
Dmxl2 A C 9: 54,353,689 (GRCm39) probably null Het
Dnaaf5 A T 5: 139,163,755 (GRCm39) I671F probably damaging Het
Dnah14 A G 1: 181,584,788 (GRCm39) D3173G probably damaging Het
Dock2 T C 11: 34,244,118 (GRCm39) Y1074C probably damaging Het
Dthd1 A C 5: 63,045,530 (GRCm39) M765L probably benign Het
E2f3 A C 13: 30,095,258 (GRCm39) C220W probably damaging Het
Elf3 C T 1: 135,185,490 (GRCm39) S8N probably damaging Het
F2rl1 A T 13: 95,649,775 (GRCm39) V369E probably damaging Het
Fpr-rs7 C T 17: 20,333,690 (GRCm39) G267R probably benign Het
Ggact A T 14: 123,129,047 (GRCm39) L56Q possibly damaging Het
Gm5546 T C 3: 104,273,824 (GRCm39) noncoding transcript Het
Gm8267 A G 14: 44,955,292 (GRCm39) V243A probably benign Het
Gtf2h1 A G 7: 46,464,836 (GRCm39) T424A possibly damaging Het
Gucy1b2 A G 14: 62,660,466 (GRCm39) V140A possibly damaging Het
Htatip2 T C 7: 49,420,592 (GRCm39) L146P probably damaging Het
Htr1b T C 9: 81,513,563 (GRCm39) D348G possibly damaging Het
Ifi205 T C 1: 173,855,887 (GRCm39) I48V possibly damaging Het
Igkv18-36 C T 6: 69,969,575 (GRCm39) R72K probably damaging Het
Kcnk7 T C 19: 5,756,281 (GRCm39) L169P probably damaging Het
Klf17 T C 4: 117,617,733 (GRCm39) D208G probably benign Het
Ltn1 A G 16: 87,215,382 (GRCm39) F418L probably damaging Het
Map4k4 G A 1: 40,058,724 (GRCm39) V1040I probably damaging Het
Mark1 A G 1: 184,644,329 (GRCm39) V445A probably benign Het
Med11 T C 11: 70,344,022 (GRCm39) I114T probably benign Het
Moxd2 A G 6: 40,864,181 (GRCm39) V83A probably damaging Het
Mrpl33 A G 5: 31,773,702 (GRCm39) probably benign Het
Mrps27 A G 13: 99,551,323 (GRCm39) probably null Het
Nop58 T C 1: 59,735,185 (GRCm39) V75A probably benign Het
Or13p5 T C 4: 118,591,852 (GRCm39) L42P probably damaging Het
Or2n1d A C 17: 38,646,731 (GRCm39) I228L possibly damaging Het
Or2t46 A G 11: 58,472,255 (GRCm39) D195G probably damaging Het
Or4k42 A C 2: 111,320,089 (GRCm39) M138R probably benign Het
Or7g19 A G 9: 18,856,742 (GRCm39) H266R probably benign Het
Or7g26 C A 9: 19,230,443 (GRCm39) F210L probably benign Het
Pdzd2 G T 15: 12,419,602 (GRCm39) N263K possibly damaging Het
Podnl1 C A 8: 84,852,690 (GRCm39) probably benign Het
Prkd3 G T 17: 79,259,366 (GRCm39) H864N possibly damaging Het
Ptprd T C 4: 76,025,570 (GRCm39) T543A probably benign Het
Pum2 T A 12: 8,797,272 (GRCm39) I788N probably damaging Het
Ralgapa1 T A 12: 55,740,243 (GRCm39) N1328I probably damaging Het
Rhoc T C 3: 104,701,355 (GRCm39) L193P probably damaging Het
Rif1 T C 2: 51,963,151 (GRCm39) probably benign Het
Rspo2 A T 15: 42,939,300 (GRCm39) C163* probably null Het
Sco1 A G 11: 66,947,425 (GRCm39) Y204C probably damaging Het
Shc2 T C 10: 79,458,213 (GRCm39) K490R probably benign Het
Siglec1 T C 2: 130,916,356 (GRCm39) D1198G probably damaging Het
Slc25a18 T C 6: 120,763,051 (GRCm39) V31A probably damaging Het
Smpd5 A T 15: 76,179,893 (GRCm39) I112L probably benign Het
Synpr CT C 14: 13,285,198 (GRCm38) probably null Het
Tdrd9 T G 12: 112,008,123 (GRCm39) S988A probably benign Het
Tiam2 T A 17: 3,504,443 (GRCm39) F982I probably damaging Het
Tmc3 G A 7: 83,271,604 (GRCm39) V919I probably benign Het
Tmed2b A T 9: 33,639,784 (GRCm39) noncoding transcript Het
Tmem200c A T 17: 69,147,465 (GRCm39) D16V probably damaging Het
Tmem37 A T 1: 119,995,935 (GRCm39) D47E probably damaging Het
Top3a T A 11: 60,633,823 (GRCm39) R733* probably null Het
Treh T C 9: 44,594,615 (GRCm39) V8A probably benign Het
Trim17 A C 11: 58,859,276 (GRCm39) probably benign Het
Ubash3b T C 9: 40,927,896 (GRCm39) K471E probably damaging Het
Usp8 T A 2: 126,571,142 (GRCm39) L144Q possibly damaging Het
Wnk2 T A 13: 49,300,708 (GRCm39) M1L unknown Het
Yju2b A G 8: 84,990,503 (GRCm39) I43T 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
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'- TCTCGCCCTGAAACTGAAAG -3'
(R):5'- CATTACTGTCCATAGACCTGGCC -3'

Sequencing Primer
(F):5'- CGCCCTGAAACTGAAAGAACGG -3'
(R):5'- TGAAGGAAACTGTCAGTCTCC -3'
Posted On 2015-10-21