Incidental Mutation 'R1186:Arap1'
ID 102124
Institutional Source Beutler Lab
Gene Symbol Arap1
Ensembl Gene ENSMUSG00000032812
Gene Name ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1
Synonyms Centd2, 2410002L19Rik
MMRRC Submission 039258-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1186 (G1)
Quality Score 194
Status Validated
Chromosome 7
Chromosomal Location 101348067-101412586 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 101404269 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084895] [ENSMUST00000084896] [ENSMUST00000098243] [ENSMUST00000107010]
AlphaFold Q4LDD4
Predicted Effect probably benign
Transcript: ENSMUST00000084895
SMART Domains Protein: ENSMUSP00000081957
Gene: ENSMUSG00000032812

DomainStartEndE-ValueType
low complexity region 19 37 N/A INTRINSIC
PH 82 175 2.62e-17 SMART
PH 195 285 3.6e-6 SMART
ArfGap 289 415 2.4e-22 SMART
PH 498 606 1.23e-13 SMART
PH 616 710 1.08e0 SMART
RhoGAP 722 904 1.35e-63 SMART
Pfam:RA 926 1015 1.5e-10 PFAM
PH 1029 1141 8.58e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000084896
SMART Domains Protein: ENSMUSP00000081958
Gene: ENSMUSG00000032812

DomainStartEndE-ValueType
SAM 3 70 1.72e-7 SMART
low complexity region 92 104 N/A INTRINSIC
low complexity region 115 126 N/A INTRINSIC
low complexity region 135 146 N/A INTRINSIC
low complexity region 151 167 N/A INTRINSIC
low complexity region 197 227 N/A INTRINSIC
low complexity region 267 285 N/A INTRINSIC
PH 330 423 2.62e-17 SMART
PH 443 533 3.6e-6 SMART
ArfGap 537 663 2.4e-22 SMART
PH 746 854 1.23e-13 SMART
PH 864 958 1.08e0 SMART
RhoGAP 970 1152 1.35e-63 SMART
Pfam:RA 1174 1263 6.6e-13 PFAM
PH 1277 1400 8e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098243
SMART Domains Protein: ENSMUSP00000095844
Gene: ENSMUSG00000032812

DomainStartEndE-ValueType
PH 32 140 1.23e-13 SMART
PH 150 244 1.08e0 SMART
RhoGAP 256 438 1.35e-63 SMART
Pfam:RA 460 549 1.2e-11 PFAM
PH 563 675 8.58e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107010
SMART Domains Protein: ENSMUSP00000102624
Gene: ENSMUSG00000032812

DomainStartEndE-ValueType
SAM 3 70 1.72e-7 SMART
low complexity region 92 104 N/A INTRINSIC
low complexity region 115 126 N/A INTRINSIC
low complexity region 135 146 N/A INTRINSIC
low complexity region 151 167 N/A INTRINSIC
low complexity region 197 227 N/A INTRINSIC
low complexity region 267 285 N/A INTRINSIC
PH 330 423 2.62e-17 SMART
PH 443 533 3.6e-6 SMART
ArfGap 537 663 2.4e-22 SMART
PH 746 854 1.23e-13 SMART
PH 864 958 1.08e0 SMART
RhoGAP 970 1152 1.35e-63 SMART
Pfam:RA 1174 1263 1.9e-10 PFAM
PH 1277 1389 8.58e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124637
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210162
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.5%
  • 10x: 95.7%
  • 20x: 90.1%
Validation Efficiency 97% (69/71)
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 SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik G A 10: 21,621,652 (GRCm38) R64Q probably benign Het
4932438A13Rik T C 3: 36,996,312 (GRCm38) probably benign Het
9530068E07Rik G A 11: 52,403,078 (GRCm38) V49I probably benign Het
A2m T C 6: 121,661,534 (GRCm38) S902P probably benign Het
Aatf A T 11: 84,470,549 (GRCm38) probably benign Het
Adamtsl1 A G 4: 86,388,509 (GRCm38) T1395A probably benign Het
Alpk2 T C 18: 65,294,341 (GRCm38) probably null Het
Ank3 G T 10: 69,867,460 (GRCm38) A308S probably damaging Het
C4b T C 17: 34,736,309 (GRCm38) D769G possibly damaging Het
Cep350 A G 1: 155,875,376 (GRCm38) S2017P probably damaging Het
Cfap54 T A 10: 92,875,994 (GRCm38) I2704F unknown Het
Crip2 G A 12: 113,144,959 (GRCm38) probably benign Het
Cyp4f14 T C 17: 32,916,786 (GRCm38) I34V probably benign Het
Dcstamp A G 15: 39,754,629 (GRCm38) probably null Het
Ddx5 T C 11: 106,783,979 (GRCm38) probably null Het
Dnah2 A T 11: 69,515,700 (GRCm38) L572Q probably damaging Het
Espl1 G A 15: 102,304,039 (GRCm38) A527T probably benign Het
Fam83d A G 2: 158,785,174 (GRCm38) D261G probably damaging Het
Fbxo34 T C 14: 47,530,586 (GRCm38) F468L probably damaging Het
Gabarapl1 A T 6: 129,533,405 (GRCm38) probably benign Het
Galnt17 G T 5: 131,111,742 (GRCm38) T179K probably damaging Het
Gm6768 A C 12: 119,261,471 (GRCm38) noncoding transcript Het
Gm6899 C T 11: 26,593,685 (GRCm38) probably benign Het
Helz2 T A 2: 181,231,128 (GRCm38) R2433W probably damaging Het
Hivep3 T C 4: 119,814,723 (GRCm38) probably benign Het
Hsh2d G A 8: 72,200,460 (GRCm38) D229N probably benign Het
Ica1 A G 6: 8,672,326 (GRCm38) L225P probably damaging Het
Inpp5f T C 7: 128,694,583 (GRCm38) I195T probably benign Het
Isyna1 C A 8: 70,595,201 (GRCm38) N115K probably benign Het
Ly6g6e T C 17: 35,078,008 (GRCm38) F75S probably benign Het
Ly96 A G 1: 16,700,894 (GRCm38) D101G possibly damaging Het
Mapk9 A G 11: 49,878,269 (GRCm38) T243A probably damaging Het
Mcc A G 18: 44,759,403 (GRCm38) V48A probably benign Het
Mcpt2 C T 14: 56,043,945 (GRCm38) probably benign Het
Med24 T C 11: 98,717,757 (GRCm38) probably benign Het
Mtbp G A 15: 55,564,671 (GRCm38) G162S probably null Het
Mtfr2 G A 10: 20,352,852 (GRCm38) C48Y probably benign Het
Naip2 AGGG AGG 13: 100,162,037 (GRCm38) probably null Het
Naip2 C T 13: 100,161,981 (GRCm38) A516T possibly damaging Het
Nup107 A C 10: 117,777,146 (GRCm38) Y292* probably null Het
Nwd2 C T 5: 63,650,024 (GRCm38) probably benign Het
Nxpe4 A C 9: 48,393,392 (GRCm38) N260H probably benign Het
Ofcc1 C T 13: 40,208,829 (GRCm38) G206R probably benign Het
Olfr1084 A T 2: 86,639,463 (GRCm38) L82M probably damaging Het
Olfr5 T C 7: 6,480,542 (GRCm38) I205V probably benign Het
Olfr901 T C 9: 38,431,101 (GRCm38) V273A possibly damaging Het
Olfr911-ps1 T C 9: 38,524,157 (GRCm38) S142P probably damaging Het
P2rx7 T C 5: 122,670,451 (GRCm38) Y299H probably damaging Het
Per3 T A 4: 151,026,138 (GRCm38) E401V probably damaging Het
Rbm34 C A 8: 126,965,447 (GRCm38) E182* probably null Het
Sdk2 C T 11: 113,838,646 (GRCm38) silent Het
Senp2 T C 16: 22,011,504 (GRCm38) S38P probably damaging Het
Slc36a2 A T 11: 55,164,231 (GRCm38) probably null Het
Spred1 A T 2: 117,177,697 (GRCm38) R361S possibly damaging Het
Spry2 A G 14: 105,892,907 (GRCm38) C282R probably damaging Het
Srp54b T C 12: 55,255,528 (GRCm38) probably benign Het
Taar8c G C 10: 24,101,565 (GRCm38) Y116* probably null Het
Tchh C G 3: 93,448,046 (GRCm38) R1598G unknown Het
Tex15 A G 8: 33,571,633 (GRCm38) M364V probably benign Het
Ttbk1 T C 17: 46,467,131 (GRCm38) R662G probably damaging Het
Ttc5 G A 14: 50,767,226 (GRCm38) Q374* probably null Het
Usp46 C T 5: 74,002,122 (GRCm38) A312T probably benign Het
Vmn1r176 A T 7: 23,835,626 (GRCm38) L34Q probably damaging Het
Vmn1r178 A T 7: 23,893,892 (GRCm38) R122* probably null Het
Vmn2r6 T A 3: 64,565,067 (GRCm38) M78L probably benign Het
Zfp407 A T 18: 84,209,448 (GRCm38) I2012N probably benign Het
Zfp980 G A 4: 145,702,083 (GRCm38) G461S probably benign Het
Zfyve26 G A 12: 79,263,949 (GRCm38) L161F probably damaging Het
Other mutations in Arap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Arap1 APN 7 101,388,049 (GRCm38) missense probably damaging 0.96
IGL01311:Arap1 APN 7 101,388,136 (GRCm38) nonsense probably null
IGL01349:Arap1 APN 7 101,387,152 (GRCm38) missense possibly damaging 0.84
IGL01521:Arap1 APN 7 101,400,605 (GRCm38) critical splice donor site probably null
IGL01869:Arap1 APN 7 101,400,283 (GRCm38) missense probably damaging 1.00
IGL02156:Arap1 APN 7 101,388,730 (GRCm38) unclassified probably benign
IGL02320:Arap1 APN 7 101,385,029 (GRCm38) missense probably benign
IGL02478:Arap1 APN 7 101,400,125 (GRCm38) splice site probably null
R0133:Arap1 UTSW 7 101,386,229 (GRCm38) missense probably damaging 0.98
R0233:Arap1 UTSW 7 101,400,241 (GRCm38) missense possibly damaging 0.47
R0233:Arap1 UTSW 7 101,400,241 (GRCm38) missense possibly damaging 0.47
R0412:Arap1 UTSW 7 101,390,222 (GRCm38) missense probably damaging 0.98
R0616:Arap1 UTSW 7 101,401,650 (GRCm38) missense possibly damaging 0.64
R0838:Arap1 UTSW 7 101,400,412 (GRCm38) missense probably damaging 1.00
R0962:Arap1 UTSW 7 101,384,914 (GRCm38) missense possibly damaging 0.56
R1405:Arap1 UTSW 7 101,398,436 (GRCm38) splice site probably null
R1405:Arap1 UTSW 7 101,398,436 (GRCm38) splice site probably null
R1724:Arap1 UTSW 7 101,400,526 (GRCm38) missense possibly damaging 0.91
R1793:Arap1 UTSW 7 101,388,622 (GRCm38) missense probably benign
R1959:Arap1 UTSW 7 101,373,015 (GRCm38) missense probably damaging 1.00
R1960:Arap1 UTSW 7 101,373,015 (GRCm38) missense probably damaging 1.00
R2020:Arap1 UTSW 7 101,401,518 (GRCm38) missense probably benign 0.00
R2128:Arap1 UTSW 7 101,409,320 (GRCm38) missense probably damaging 1.00
R3737:Arap1 UTSW 7 101,400,277 (GRCm38) missense possibly damaging 0.85
R3851:Arap1 UTSW 7 101,390,165 (GRCm38) nonsense probably null
R4034:Arap1 UTSW 7 101,400,277 (GRCm38) missense possibly damaging 0.85
R4386:Arap1 UTSW 7 101,385,571 (GRCm38) missense probably benign
R4435:Arap1 UTSW 7 101,390,254 (GRCm38) missense possibly damaging 0.74
R4779:Arap1 UTSW 7 101,404,367 (GRCm38) missense probably damaging 1.00
R4786:Arap1 UTSW 7 101,385,005 (GRCm38) missense possibly damaging 0.94
R4850:Arap1 UTSW 7 101,398,791 (GRCm38) missense probably damaging 1.00
R4942:Arap1 UTSW 7 101,401,802 (GRCm38) missense possibly damaging 0.95
R5253:Arap1 UTSW 7 101,388,644 (GRCm38) missense probably benign 0.00
R5342:Arap1 UTSW 7 101,404,960 (GRCm38) missense probably benign 0.00
R5367:Arap1 UTSW 7 101,409,130 (GRCm38) missense probably damaging 0.99
R5397:Arap1 UTSW 7 101,384,912 (GRCm38) missense possibly damaging 0.95
R5968:Arap1 UTSW 7 101,394,738 (GRCm38) missense probably damaging 1.00
R6052:Arap1 UTSW 7 101,404,033 (GRCm38) missense probably damaging 1.00
R6574:Arap1 UTSW 7 101,404,001 (GRCm38) missense probably damaging 1.00
R6645:Arap1 UTSW 7 101,408,111 (GRCm38) missense possibly damaging 0.57
R7060:Arap1 UTSW 7 101,409,357 (GRCm38) splice site probably null
R7191:Arap1 UTSW 7 101,384,992 (GRCm38) missense probably benign 0.31
R7323:Arap1 UTSW 7 101,400,211 (GRCm38) missense probably damaging 1.00
R7349:Arap1 UTSW 7 101,390,228 (GRCm38) missense possibly damaging 0.95
R7516:Arap1 UTSW 7 101,409,331 (GRCm38) missense probably benign 0.00
R7922:Arap1 UTSW 7 101,404,414 (GRCm38) nonsense probably null
R8034:Arap1 UTSW 7 101,394,773 (GRCm38) missense probably damaging 1.00
R8293:Arap1 UTSW 7 101,400,934 (GRCm38) missense probably benign
R8493:Arap1 UTSW 7 101,386,518 (GRCm38) nonsense probably null
R8810:Arap1 UTSW 7 101,404,378 (GRCm38) missense probably damaging 0.99
R8811:Arap1 UTSW 7 101,387,196 (GRCm38) missense probably damaging 1.00
R8928:Arap1 UTSW 7 101,408,117 (GRCm38) missense possibly damaging 0.52
R8930:Arap1 UTSW 7 101,408,117 (GRCm38) missense possibly damaging 0.52
R8931:Arap1 UTSW 7 101,408,117 (GRCm38) missense possibly damaging 0.52
R8941:Arap1 UTSW 7 101,408,117 (GRCm38) missense possibly damaging 0.52
R9014:Arap1 UTSW 7 101,404,333 (GRCm38) missense probably damaging 1.00
R9144:Arap1 UTSW 7 101,398,395 (GRCm38) missense probably damaging 1.00
R9164:Arap1 UTSW 7 101,391,883 (GRCm38) nonsense probably null
R9215:Arap1 UTSW 7 101,400,007 (GRCm38) missense probably benign 0.23
R9340:Arap1 UTSW 7 101,388,175 (GRCm38) missense probably damaging 1.00
R9519:Arap1 UTSW 7 101,394,739 (GRCm38) start gained probably benign
R9790:Arap1 UTSW 7 101,388,169 (GRCm38) missense probably benign 0.00
R9791:Arap1 UTSW 7 101,388,169 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTGGTGGTGAAGAAGTACCAGTCC -3'
(R):5'- GCGTGTGAGTGTCTGAGCACAAAG -3'

Sequencing Primer
(F):5'- CATGGAGGCCATGCTGTTG -3'
(R):5'- TACTAATGTCCATCACAGGGCTTAC -3'
Posted On 2014-01-15