Incidental Mutation 'R2128:Arap1'
ID 227726
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 040131-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2128 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 100997296-101061793 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101058527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 1375 (L1375H)
Ref Sequence ENSEMBL: ENSMUSP00000102624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084894] [ENSMUST00000084895] [ENSMUST00000084896] [ENSMUST00000098243] [ENSMUST00000107010]
AlphaFold Q4LDD4
Predicted Effect probably benign
Transcript: ENSMUST00000084894
SMART Domains Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653

DomainStartEndE-ValueType
Blast:GAF 57 181 4e-76 BLAST
low complexity region 182 196 N/A INTRINSIC
GAF 235 382 2.2e-21 SMART
GAF 404 553 6.11e-38 SMART
HDc 648 817 9.04e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000084895
AA Change: L1127H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081957
Gene: ENSMUSG00000032812
AA Change: L1127H

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 damaging
Transcript: ENSMUST00000084896
AA Change: L1386H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081958
Gene: ENSMUSG00000032812
AA Change: L1386H

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 damaging
Transcript: ENSMUST00000098243
AA Change: L661H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095844
Gene: ENSMUSG00000032812
AA Change: L661H

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 damaging
Transcript: ENSMUST00000107010
AA Change: L1375H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102624
Gene: ENSMUSG00000032812
AA Change: L1375H

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: ENSMUST00000210162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125284
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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 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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,066,066 (GRCm39) E249G possibly damaging Het
2610028H24Rik A G 10: 76,293,349 (GRCm39) M136V possibly damaging Het
4930523C07Rik A T 1: 159,902,945 (GRCm39) K72* probably null Het
Abca6 A G 11: 110,110,475 (GRCm39) I558T probably benign Het
Acot10 T C 15: 20,666,712 (GRCm39) T10A probably benign Het
Adgrl4 T A 3: 151,205,838 (GRCm39) D233E probably benign Het
Adgrv1 A T 13: 81,705,199 (GRCm39) F1537Y probably damaging Het
Aqp3 T A 4: 41,098,061 (GRCm39) I17F probably benign Het
Aspm T C 1: 139,385,373 (GRCm39) V339A probably benign Het
Atp13a3 G A 16: 30,173,094 (GRCm39) A261V probably damaging Het
Casp8ap2 T C 4: 32,640,142 (GRCm39) Y399H probably benign Het
Cept1 A G 3: 106,420,195 (GRCm39) V213A probably damaging Het
Cit A G 5: 116,123,566 (GRCm39) D1469G possibly damaging Het
Cnga2 A G X: 71,051,394 (GRCm39) Y182C possibly damaging Het
Cox20 A G 1: 178,149,512 (GRCm39) I54V probably benign Het
Dhx8 C A 11: 101,629,235 (GRCm39) D261E probably benign Het
Dnah2 A T 11: 69,349,011 (GRCm39) I2486N probably benign Het
Dnah5 A G 15: 28,408,467 (GRCm39) Q3484R probably benign Het
Drd1 T C 13: 54,207,572 (GRCm39) Y207C probably damaging Het
Dtl C T 1: 191,290,222 (GRCm39) V222I probably damaging Het
Dync1h1 T C 12: 110,607,316 (GRCm39) Y2636H probably damaging Het
Endog C A 2: 30,062,048 (GRCm39) D154E probably benign Het
Epc1 A T 18: 6,462,954 (GRCm39) V14E probably damaging Het
Ercc4 C A 16: 12,965,798 (GRCm39) T810K probably damaging Het
Fam43b T A 4: 138,123,299 (GRCm39) N7I possibly damaging Het
Fgd1 T C X: 149,869,213 (GRCm39) probably null Het
Filip1 G T 9: 79,726,612 (GRCm39) T669N probably damaging Het
Fndc1 A G 17: 7,997,497 (GRCm39) probably benign Het
Foxk1 C A 5: 142,420,943 (GRCm39) S189* probably null Het
Gatm T C 2: 122,431,017 (GRCm39) N274S probably damaging Het
Gdf9 A G 11: 53,328,334 (GRCm39) Y430C probably damaging Het
Gga1 C T 15: 78,772,648 (GRCm39) P260S probably damaging Het
Gm11595 A T 11: 99,663,327 (GRCm39) C118S unknown Het
Gm382 G T X: 125,970,274 (GRCm39) V820L possibly damaging Het
Gzmk T A 13: 113,308,548 (GRCm39) I179F probably damaging Het
Hsp90b1 T C 10: 86,531,570 (GRCm39) D421G probably damaging Het
Hus1 A G 11: 8,956,011 (GRCm39) M174T probably damaging Het
Ifngr2 T A 16: 91,359,761 (GRCm39) Y289* probably null Het
Il6st T A 13: 112,640,709 (GRCm39) H828Q probably benign Het
Impg2 T A 16: 56,038,742 (GRCm39) Y127N probably damaging Het
Irf3 T A 7: 44,651,168 (GRCm39) W345R probably damaging Het
Kif1b G A 4: 149,272,097 (GRCm39) S1568L possibly damaging Het
Klhl42 A G 6: 147,003,251 (GRCm39) T342A probably benign Het
Kndc1 G T 7: 139,510,025 (GRCm39) R1289L probably damaging Het
Knl1 A T 2: 118,902,300 (GRCm39) T1334S possibly damaging Het
L3mbtl3 G T 10: 26,189,766 (GRCm39) D499E unknown Het
Ldhd T A 8: 112,353,680 (GRCm39) M478L probably benign Het
Loxl4 C G 19: 42,592,402 (GRCm39) E385D probably damaging Het
Lrriq1 G A 10: 103,050,718 (GRCm39) T678I probably benign Het
Macf1 T A 4: 123,386,567 (GRCm39) I1017F probably benign Het
Madcam1 A G 10: 79,501,406 (GRCm39) E157G possibly damaging Het
Mamdc4 T C 2: 25,459,270 (GRCm39) D195G probably damaging Het
Mctp1 A G 13: 76,972,941 (GRCm39) D648G probably damaging Het
Mycbp2 T C 14: 103,438,666 (GRCm39) M2072V probably benign Het
Nck1 A G 9: 100,379,600 (GRCm39) probably null Het
Ndufaf4 G T 4: 24,898,608 (GRCm39) D55Y probably damaging Het
Nek11 A T 9: 105,177,560 (GRCm39) D230E probably benign Het
Nit2 T C 16: 56,981,559 (GRCm39) K67E possibly damaging Het
Or12j2 C T 7: 139,916,342 (GRCm39) T189M probably damaging Het
Or5ae1 T C 7: 84,565,701 (GRCm39) F238S probably damaging Het
Or6a2 T C 7: 106,600,455 (GRCm39) D204G probably damaging Het
Or6c1 A T 10: 129,518,401 (GRCm39) V69E possibly damaging Het
Pakap A G 4: 57,854,890 (GRCm39) Y134C probably benign Het
Pccb G C 9: 100,867,884 (GRCm39) D347E probably damaging Het
Plcl1 T A 1: 55,736,997 (GRCm39) F779L probably damaging Het
Prune2 C A 19: 17,099,786 (GRCm39) D1763E probably benign Het
Pwwp2a A G 11: 43,596,145 (GRCm39) S437G probably benign Het
Rabgap1l A T 1: 160,566,527 (GRCm39) D90E probably benign Het
Rapgef4 T A 2: 72,056,897 (GRCm39) I552N possibly damaging Het
Scn7a A T 2: 66,528,330 (GRCm39) I720K probably damaging Het
Scn9a T A 2: 66,356,998 (GRCm39) N1101I probably damaging Het
Siglec1 A T 2: 130,922,417 (GRCm39) Y553N probably damaging Het
Slc22a23 A G 13: 34,387,953 (GRCm39) L381P possibly damaging Het
Slc7a11 T A 3: 50,338,558 (GRCm39) T284S probably damaging Het
Slc8a2 T A 7: 15,874,417 (GRCm39) probably null Het
Snx29 T A 16: 11,218,835 (GRCm39) S224T probably damaging Het
Stimate T C 14: 30,588,581 (GRCm39) Y103H probably damaging Het
Stox1 T C 10: 62,500,314 (GRCm39) T749A probably benign Het
Tg A G 15: 66,566,743 (GRCm39) I1264V probably benign Het
Top2a A C 11: 98,900,633 (GRCm39) V609G probably damaging Het
Trmt44 G A 5: 35,732,176 (GRCm39) P72S probably benign Het
Ttll3 G C 6: 113,389,895 (GRCm39) S760T probably benign Het
Ttn T C 2: 76,579,022 (GRCm39) D23957G probably damaging Het
Ttn G A 2: 76,664,241 (GRCm39) probably benign Het
Ubxn1 T G 19: 8,849,434 (GRCm39) V59G probably benign Het
Ubxn4 T C 1: 128,172,247 (GRCm39) S14P probably benign Het
Uso1 T A 5: 92,343,229 (GRCm39) M771K probably benign Het
Utp20 A G 10: 88,649,917 (GRCm39) F431S probably damaging Het
Vmn1r206 T C 13: 22,804,782 (GRCm39) S142G probably benign Het
Vmn2r19 A G 6: 123,285,289 (GRCm39) probably null Het
Vps36 G T 8: 22,708,305 (GRCm39) probably null Het
Wnt3 A G 11: 103,703,474 (GRCm39) H319R possibly damaging Het
Zbtb26 G T 2: 37,326,563 (GRCm39) Q158K probably benign Het
Zfp648 T C 1: 154,080,353 (GRCm39) S171P probably benign Het
Other mutations in Arap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Arap1 APN 7 101,037,256 (GRCm39) missense probably damaging 0.96
IGL01311:Arap1 APN 7 101,037,343 (GRCm39) nonsense probably null
IGL01349:Arap1 APN 7 101,036,359 (GRCm39) missense possibly damaging 0.84
IGL01521:Arap1 APN 7 101,049,812 (GRCm39) critical splice donor site probably null
IGL01869:Arap1 APN 7 101,049,490 (GRCm39) missense probably damaging 1.00
IGL02156:Arap1 APN 7 101,037,937 (GRCm39) unclassified probably benign
IGL02320:Arap1 APN 7 101,034,236 (GRCm39) missense probably benign
IGL02478:Arap1 APN 7 101,049,332 (GRCm39) splice site probably null
R0133:Arap1 UTSW 7 101,035,436 (GRCm39) missense probably damaging 0.98
R0233:Arap1 UTSW 7 101,049,448 (GRCm39) missense possibly damaging 0.47
R0233:Arap1 UTSW 7 101,049,448 (GRCm39) missense possibly damaging 0.47
R0412:Arap1 UTSW 7 101,039,429 (GRCm39) missense probably damaging 0.98
R0616:Arap1 UTSW 7 101,050,857 (GRCm39) missense possibly damaging 0.64
R0838:Arap1 UTSW 7 101,049,619 (GRCm39) missense probably damaging 1.00
R0962:Arap1 UTSW 7 101,034,121 (GRCm39) missense possibly damaging 0.56
R1186:Arap1 UTSW 7 101,053,476 (GRCm39) splice site probably benign
R1405:Arap1 UTSW 7 101,047,643 (GRCm39) splice site probably null
R1405:Arap1 UTSW 7 101,047,643 (GRCm39) splice site probably null
R1724:Arap1 UTSW 7 101,049,733 (GRCm39) missense possibly damaging 0.91
R1793:Arap1 UTSW 7 101,037,829 (GRCm39) missense probably benign
R1959:Arap1 UTSW 7 101,022,222 (GRCm39) missense probably damaging 1.00
R1960:Arap1 UTSW 7 101,022,222 (GRCm39) missense probably damaging 1.00
R2020:Arap1 UTSW 7 101,050,725 (GRCm39) missense probably benign 0.00
R3737:Arap1 UTSW 7 101,049,484 (GRCm39) missense possibly damaging 0.85
R3851:Arap1 UTSW 7 101,039,372 (GRCm39) nonsense probably null
R4034:Arap1 UTSW 7 101,049,484 (GRCm39) missense possibly damaging 0.85
R4386:Arap1 UTSW 7 101,034,778 (GRCm39) missense probably benign
R4435:Arap1 UTSW 7 101,039,461 (GRCm39) missense possibly damaging 0.74
R4779:Arap1 UTSW 7 101,053,574 (GRCm39) missense probably damaging 1.00
R4786:Arap1 UTSW 7 101,034,212 (GRCm39) missense possibly damaging 0.94
R4850:Arap1 UTSW 7 101,047,998 (GRCm39) missense probably damaging 1.00
R4942:Arap1 UTSW 7 101,051,009 (GRCm39) missense possibly damaging 0.95
R5253:Arap1 UTSW 7 101,037,851 (GRCm39) missense probably benign 0.00
R5342:Arap1 UTSW 7 101,054,167 (GRCm39) missense probably benign 0.00
R5367:Arap1 UTSW 7 101,058,337 (GRCm39) missense probably damaging 0.99
R5397:Arap1 UTSW 7 101,034,119 (GRCm39) missense possibly damaging 0.95
R5968:Arap1 UTSW 7 101,043,945 (GRCm39) missense probably damaging 1.00
R6052:Arap1 UTSW 7 101,053,240 (GRCm39) missense probably damaging 1.00
R6574:Arap1 UTSW 7 101,053,208 (GRCm39) missense probably damaging 1.00
R6645:Arap1 UTSW 7 101,057,318 (GRCm39) missense possibly damaging 0.57
R7060:Arap1 UTSW 7 101,058,564 (GRCm39) splice site probably null
R7191:Arap1 UTSW 7 101,034,199 (GRCm39) missense probably benign 0.31
R7323:Arap1 UTSW 7 101,049,418 (GRCm39) missense probably damaging 1.00
R7349:Arap1 UTSW 7 101,039,435 (GRCm39) missense possibly damaging 0.95
R7516:Arap1 UTSW 7 101,058,538 (GRCm39) missense probably benign 0.00
R7922:Arap1 UTSW 7 101,053,621 (GRCm39) nonsense probably null
R8034:Arap1 UTSW 7 101,043,980 (GRCm39) missense probably damaging 1.00
R8293:Arap1 UTSW 7 101,050,141 (GRCm39) missense probably benign
R8493:Arap1 UTSW 7 101,035,725 (GRCm39) nonsense probably null
R8810:Arap1 UTSW 7 101,053,585 (GRCm39) missense probably damaging 0.99
R8811:Arap1 UTSW 7 101,036,403 (GRCm39) missense probably damaging 1.00
R8928:Arap1 UTSW 7 101,057,324 (GRCm39) missense possibly damaging 0.52
R8930:Arap1 UTSW 7 101,057,324 (GRCm39) missense possibly damaging 0.52
R8931:Arap1 UTSW 7 101,057,324 (GRCm39) missense possibly damaging 0.52
R8941:Arap1 UTSW 7 101,057,324 (GRCm39) missense possibly damaging 0.52
R9014:Arap1 UTSW 7 101,053,540 (GRCm39) missense probably damaging 1.00
R9144:Arap1 UTSW 7 101,047,602 (GRCm39) missense probably damaging 1.00
R9164:Arap1 UTSW 7 101,041,090 (GRCm39) nonsense probably null
R9215:Arap1 UTSW 7 101,049,214 (GRCm39) missense probably benign 0.23
R9340:Arap1 UTSW 7 101,037,382 (GRCm39) missense probably damaging 1.00
R9519:Arap1 UTSW 7 101,043,946 (GRCm39) start gained probably benign
R9790:Arap1 UTSW 7 101,037,376 (GRCm39) missense probably benign 0.00
R9791:Arap1 UTSW 7 101,037,376 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAAAGTGACCCCTTCTCTGG -3'
(R):5'- TCTTCCTGGAAGCCACTCTG -3'

Sequencing Primer
(F):5'- TTCACGGTGGTGCACGAGAC -3'
(R):5'- TGCACCAGGTGAATATCCCTGTG -3'
Posted On 2014-09-17