Incidental Mutation 'R9340:Arap1'
ID 707443
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9340 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 100997296-101061793 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101037382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 470 (Y470H)
Ref Sequence ENSEMBL: ENSMUSP00000081958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084895] [ENSMUST00000084896] [ENSMUST00000107010] [ENSMUST00000127873] [ENSMUST00000130016] [ENSMUST00000134143] [ENSMUST00000141083] [ENSMUST00000148902]
AlphaFold Q4LDD4
Predicted Effect probably damaging
Transcript: ENSMUST00000084895
AA Change: Y222H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081957
Gene: ENSMUSG00000032812
AA Change: Y222H

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: Y470H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081958
Gene: ENSMUSG00000032812
AA Change: Y470H

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: ENSMUST00000107010
AA Change: Y470H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102624
Gene: ENSMUSG00000032812
AA Change: Y470H

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: 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 probably benign
Transcript: ENSMUST00000148902
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T A 13: 61,001,647 (GRCm39) M58L probably benign Het
Abca8b A G 11: 109,840,939 (GRCm39) V1078A probably benign Het
Acvr2b A G 9: 119,257,492 (GRCm39) D175G probably damaging Het
Adad2 A G 8: 120,339,769 (GRCm39) M84V probably benign Het
Ahnak A T 19: 8,994,411 (GRCm39) M5232L probably benign Het
Ahsa1 T C 12: 87,315,053 (GRCm39) S69P probably damaging Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Antxr2 G T 5: 98,086,306 (GRCm39) P434T probably damaging Het
Baz1a A G 12: 54,963,372 (GRCm39) I907T probably damaging Het
Baz1b A T 5: 135,246,729 (GRCm39) Q726L probably benign Het
Bcar3 C T 3: 122,298,462 (GRCm39) probably benign Het
Bean1 C T 8: 104,908,739 (GRCm39) R39C probably damaging Het
Cass4 A T 2: 172,268,686 (GRCm39) N256I possibly damaging Het
Cnot10 T C 9: 114,460,897 (GRCm39) K91R probably benign Het
Col6a6 C T 9: 105,651,757 (GRCm39) V1085M probably damaging Het
Dpf3 A G 12: 83,534,449 (GRCm39) probably null Het
Dync1i2 T A 2: 71,093,019 (GRCm39) W605R probably damaging Het
Exoc5 A T 14: 49,286,297 (GRCm39) V110E probably damaging Het
Fgfr2 T A 7: 129,782,136 (GRCm39) H563L probably damaging Het
Fosl2 A G 5: 32,304,379 (GRCm39) T105A probably benign Het
Fsip2 A G 2: 82,818,604 (GRCm39) H4779R possibly damaging Het
Fuca2 A G 10: 13,382,518 (GRCm39) Y268C probably damaging Het
Galnt13 G A 2: 54,770,161 (GRCm39) E318K probably damaging Het
Hc G A 2: 34,876,294 (GRCm39) T1584I probably damaging Het
Helb T C 10: 119,928,556 (GRCm39) K762E probably damaging Het
Hspg2 T G 4: 137,296,827 (GRCm39) L4335R probably damaging Het
Ift88 A C 14: 57,718,920 (GRCm39) Q635P probably damaging Het
Inpp5a C A 7: 138,969,380 (GRCm39) D25E probably benign Het
Kcnu1 A G 8: 26,376,786 (GRCm39) T387A possibly damaging Het
Lamb1 G A 12: 31,374,223 (GRCm39) D1529N probably benign Het
Lamb1 A T 12: 31,374,224 (GRCm39) D1529V probably benign Het
Lnx1 T C 5: 74,758,584 (GRCm39) N476S probably benign Het
Mup17 T C 4: 61,512,633 (GRCm39) M87V probably benign Het
Naip6 G A 13: 100,452,494 (GRCm39) T189I probably damaging Het
Nf1 T A 11: 79,447,629 (GRCm39) Y462N possibly damaging Het
Nup133 T C 8: 124,664,881 (GRCm39) D270G probably benign Het
Obox2 T C 7: 15,130,789 (GRCm39) L7S probably damaging Het
Obox6 A T 7: 15,567,722 (GRCm39) S242T possibly damaging Het
Ogfr AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,236,850 (GRCm39) probably benign Het
Pigyl C T 9: 22,069,130 (GRCm39) probably benign Het
Rasa1 A G 13: 85,369,649 (GRCm39) V891A probably damaging Het
Rxrg A G 1: 167,458,890 (GRCm39) D292G possibly damaging Het
Saal1 A G 7: 46,351,248 (GRCm39) F243L probably benign Het
Sec24c G A 14: 20,729,598 (GRCm39) V59M probably benign Het
Sema4f C A 6: 82,890,890 (GRCm39) G639V probably damaging Het
Serpinb1c A T 13: 33,066,172 (GRCm39) C258S probably benign Het
Snx21 CACCTGCAGGCAGTGCCAGAGCTACGCCAAGCTCCGGACCTGCAGG CACCTGCAGG 2: 164,633,849 (GRCm39) probably benign Het
Syndig1 T C 2: 149,845,175 (GRCm39) S233P probably damaging Het
Taf6l A T 19: 8,752,636 (GRCm39) L377M probably damaging Het
Tcl1 T C 12: 105,184,979 (GRCm39) Y77C probably damaging Het
Tekt2 C A 4: 126,216,952 (GRCm39) M272I probably benign Het
Trp53bp1 T C 2: 121,100,460 (GRCm39) E98G probably benign Het
Ubr4 T A 4: 139,182,763 (GRCm39) I383N unknown Het
Wdr89 G T 12: 75,679,937 (GRCm39) P106T probably benign Het
Zfp534 T C 4: 147,758,698 (GRCm39) E657G possibly damaging Het
Zfp69 T C 4: 120,788,013 (GRCm39) K434R probably damaging Het
Zfyve26 T A 12: 79,321,680 (GRCm39) K980* probably null 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
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
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'- CTTCACCCTTTTGCAGTGGAG -3'
(R):5'- TGCTGTTCAGGGACAGGATG -3'

Sequencing Primer
(F):5'- CCTTTTGCAGTGGAGCGGAAC -3'
(R):5'- CTGTTCAGGGACAGGATGGAGATG -3'
Posted On 2022-04-18