Incidental Mutation 'R3851:Arap1'
ID 275922
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 040899-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3851 (G1)
Quality Score 169
Status Validated
Chromosome 7
Chromosomal Location 100997296-101061793 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 101039372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 544 (W544*)
Ref Sequence ENSEMBL: ENSMUSP00000102624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084895] [ENSMUST00000084896] [ENSMUST00000098243] [ENSMUST00000107010] [ENSMUST00000127873] [ENSMUST00000130016] [ENSMUST00000155754] [ENSMUST00000134143] [ENSMUST00000141083] [ENSMUST00000148902]
AlphaFold Q4LDD4
Predicted Effect probably null
Transcript: ENSMUST00000084895
AA Change: W296*
SMART Domains Protein: ENSMUSP00000081957
Gene: ENSMUSG00000032812
AA Change: W296*

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 null
Transcript: ENSMUST00000084896
AA Change: W544*
SMART Domains Protein: ENSMUSP00000081958
Gene: ENSMUSG00000032812
AA Change: W544*

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 null
Transcript: ENSMUST00000107010
AA Change: W544*
SMART Domains Protein: ENSMUSP00000102624
Gene: ENSMUSG00000032812
AA Change: W544*

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 probably benign
Transcript: ENSMUST00000127873
SMART Domains Protein: ENSMUSP00000121257
Gene: ENSMUSG00000032812

DomainStartEndE-ValueType
low complexity region 19 37 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130016
SMART Domains Protein: ENSMUSP00000115850
Gene: ENSMUSG00000032812

DomainStartEndE-ValueType
low complexity region 19 37 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152082
Predicted Effect probably benign
Transcript: ENSMUST00000134143
SMART Domains Protein: ENSMUSP00000115107
Gene: ENSMUSG00000032812

DomainStartEndE-ValueType
low complexity region 19 37 N/A INTRINSIC
SCOP:d1ki1b2 68 111 4e-4 SMART
Blast:PH 82 111 6e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000141083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213314
Predicted Effect probably benign
Transcript: ENSMUST00000148902
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (36/36)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AY358078 A G 14: 52,043,010 (GRCm39) T233A unknown Het
Bcl9 G A 3: 97,116,969 (GRCm39) P575L probably damaging Het
Calcr T C 6: 3,693,735 (GRCm39) Y353C probably damaging Het
Cry1 C A 10: 84,982,363 (GRCm39) A328S probably benign Het
Dclre1a A T 19: 56,529,939 (GRCm39) N799K probably damaging Het
Dnm3 A T 1: 162,148,696 (GRCm39) probably null Het
Dock9 A T 14: 121,866,498 (GRCm39) probably null Het
Dpysl4 C T 7: 138,680,851 (GRCm39) T575M probably damaging Het
Drc7 C T 8: 95,788,464 (GRCm39) Q276* probably null Het
Dzip3 T C 16: 48,770,376 (GRCm39) T389A possibly damaging Het
Flnc T A 6: 29,453,718 (GRCm39) L1801Q probably damaging Het
Fmo9 A G 1: 166,490,936 (GRCm39) L463P probably benign Het
Fnip2 G C 3: 79,369,464 (GRCm39) H1074D probably damaging Het
Golga2 A G 2: 32,195,623 (GRCm39) E806G probably benign Het
H2-Q5 T A 17: 35,613,115 (GRCm39) M5K unknown Het
Il27ra C T 8: 84,767,317 (GRCm39) E169K probably benign Het
Insyn2a A G 7: 134,486,255 (GRCm39) V432A probably benign Het
Itpkc A T 7: 26,927,037 (GRCm39) N292K probably benign Het
Lhfpl3 G A 5: 22,980,985 (GRCm39) probably benign Het
Map4k3 A G 17: 80,951,752 (GRCm39) probably benign Het
Mas1 C G 17: 13,060,880 (GRCm39) S181T probably benign Het
Ntn1 C G 11: 68,276,619 (GRCm39) D110H probably damaging Het
Nubpl T C 12: 52,190,810 (GRCm39) M65T probably damaging Het
Or6c76b A C 10: 129,693,016 (GRCm39) M210L probably benign Het
Parp14 A G 16: 35,674,118 (GRCm39) I1042T possibly damaging Het
Pcdh15 C A 10: 74,467,518 (GRCm39) S1779Y probably damaging Het
Pgm5 C T 19: 24,797,567 (GRCm39) R205Q probably damaging Het
Radil T C 5: 142,492,752 (GRCm39) D292G probably damaging Het
Rbp3 C A 14: 33,677,464 (GRCm39) H471N probably damaging Het
Rgs14 T A 13: 55,527,427 (GRCm39) L221Q possibly damaging Het
Rrm2 G T 12: 24,758,598 (GRCm39) A47S probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slco4a1 C T 2: 180,105,884 (GRCm39) T22M probably benign Het
Sult2b1 G T 7: 45,379,461 (GRCm39) probably benign Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Ttn G T 2: 76,581,678 (GRCm39) L23072I possibly damaging Het
Zfp521 T C 18: 13,850,808 (GRCm39) 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
R2128:Arap1 UTSW 7 101,058,527 (GRCm39) missense probably damaging 1.00
R3737:Arap1 UTSW 7 101,049,484 (GRCm39) missense possibly damaging 0.85
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'- GTCTTAGGATGACACCTCCTCC -3'
(R):5'- GGACCTAAGGTTCTCCCAAGAG -3'

Sequencing Primer
(F):5'- GATGACACCTCCTCCCGACC -3'
(R):5'- TGCTGACACACCGTTAGATATAAGG -3'
Posted On 2015-04-06