Incidental Mutation 'R9791:Arap1'
ID 734609
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 # R9791 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 100997296-101061793 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 101037376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 468 (Q468K)
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 benign
Transcript: ENSMUST00000084895
AA Change: Q220K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000081957
Gene: ENSMUSG00000032812
AA Change: Q220K

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
AA Change: Q468K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000081958
Gene: ENSMUSG00000032812
AA Change: Q468K

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: ENSMUST00000107010
AA Change: Q468K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000102624
Gene: ENSMUSG00000032812
AA Change: Q468K

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.5%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,748,604 (GRCm39) Y312H probably damaging Het
Abcc10 A T 17: 46,633,185 (GRCm39) I549N probably damaging Het
Agpat2 A G 2: 26,486,395 (GRCm39) Y134H probably damaging Het
Alms1 A G 6: 85,596,425 (GRCm39) D417G probably benign Het
Apol11b T A 15: 77,519,475 (GRCm39) I202F probably benign Het
Arhgef4 T C 1: 34,832,445 (GRCm39) probably null Het
Asap3 A T 4: 135,961,914 (GRCm39) N285I probably damaging Het
Aspm A T 1: 139,408,375 (GRCm39) I2421F probably damaging Het
Banp C A 8: 122,701,285 (GRCm39) D17E probably benign Het
Bsx T G 9: 40,788,905 (GRCm39) V154G probably damaging Het
Cacnb1 T C 11: 97,900,186 (GRCm39) D324G probably damaging Het
Ccdc170 A T 10: 4,483,957 (GRCm39) probably null Het
Ccdc187 T C 2: 26,171,227 (GRCm39) H417R probably benign Het
Cct4 T A 11: 22,949,070 (GRCm39) M272K probably damaging Het
Chd9 A G 8: 91,760,417 (GRCm39) E2054G possibly damaging Het
Ctnnal1 A T 4: 56,844,584 (GRCm39) S127T possibly damaging Het
Cttnbp2 T A 6: 18,376,027 (GRCm39) H1504L probably benign Het
Cyp4a29 T A 4: 115,108,380 (GRCm39) M368K probably damaging Het
Dhx32 A G 7: 133,326,267 (GRCm39) F527L probably benign Het
Foxk1 T C 5: 142,387,739 (GRCm39) V154A probably damaging Het
Frem3 G A 8: 81,339,890 (GRCm39) E728K probably benign Het
Gemin5 G A 11: 58,020,846 (GRCm39) Q1114* probably null Het
Gm11567 C T 11: 99,770,274 (GRCm39) R71C unknown Het
Gm13272 T C 4: 88,698,442 (GRCm39) V119A probably benign Het
Gpc6 T A 14: 117,163,435 (GRCm39) C30S probably damaging Het
Gprc6a A C 10: 51,491,395 (GRCm39) F785V probably damaging Het
Hormad1 T C 3: 95,494,693 (GRCm39) V368A probably benign Het
Hsd17b4 G A 18: 50,324,907 (GRCm39) probably null Het
Il17ra C T 6: 120,459,240 (GRCm39) S797F probably damaging Het
Jmjd6 A G 11: 116,733,438 (GRCm39) S80P probably benign Het
Klhdc2 T A 12: 69,346,995 (GRCm39) N53K probably benign Het
Klhl30 C T 1: 91,282,089 (GRCm39) P230L probably benign Het
Marchf1 C A 8: 66,729,339 (GRCm39) A46E probably benign Het
Mast4 T C 13: 102,890,705 (GRCm39) T1050A probably benign Het
Mpp7 T C 18: 7,355,049 (GRCm39) N459S probably benign Het
Mtfr1l A G 4: 134,258,063 (GRCm39) V53A probably benign Het
Myh11 T A 16: 14,025,992 (GRCm39) E1326V Het
Myh3 A G 11: 66,992,005 (GRCm39) E1850G probably damaging Het
Myo16 A G 8: 10,619,925 (GRCm39) D1492G unknown Het
Myo3b C A 2: 70,180,287 (GRCm39) H1219Q probably benign Het
Nphp4 A T 4: 152,646,605 (GRCm39) Q1379L probably null Het
Or8g30 C T 9: 39,230,815 (GRCm39) V32I probably benign Het
Or9q1 A G 19: 13,804,914 (GRCm39) I282T probably benign Het
Osbpl6 T G 2: 76,385,361 (GRCm39) L265R probably damaging Het
Pld4 A G 12: 112,734,862 (GRCm39) T440A probably damaging Het
Prr14 T C 7: 127,071,128 (GRCm39) M1T probably null Het
Ptger4 A T 15: 5,273,178 (GRCm39) M1K probably null Het
Ptpn22 A T 3: 103,795,842 (GRCm39) T608S possibly damaging Het
S1pr2 A G 9: 20,879,319 (GRCm39) W170R probably damaging Het
Specc1l A G 10: 75,066,603 (GRCm39) I17M probably benign Het
Spmap1 T A 11: 97,666,594 (GRCm39) I31F probably benign Het
Sptbn4 C G 7: 27,071,662 (GRCm39) G1601R probably damaging Het
Sqor C T 2: 122,626,912 (GRCm39) P11L probably benign Het
Stac2 T C 11: 97,934,449 (GRCm39) D85G probably benign Het
Svs5 G A 2: 164,078,918 (GRCm39) Q330* probably null Het
Taar7e A G 10: 23,913,554 (GRCm39) I15V probably benign Het
Tcf4 A T 18: 69,770,007 (GRCm39) Y275F probably damaging Het
Tenm4 A G 7: 96,538,046 (GRCm39) N1873S probably damaging Het
Tert T A 13: 73,775,648 (GRCm39) V133D probably benign Het
Tfap2a T A 13: 40,870,658 (GRCm39) N410I probably damaging Het
Tjp3 A T 10: 81,109,694 (GRCm39) D836E probably benign Het
Tox3 A T 8: 90,975,206 (GRCm39) M475K unknown Het
Traf4 A T 11: 78,050,979 (GRCm39) D392E probably damaging Het
Vav2 A G 2: 27,181,825 (GRCm39) L338P probably damaging Het
Vmn1r81 T C 7: 11,994,113 (GRCm39) N165S probably benign Het
Vmn2r9 A T 5: 108,995,409 (GRCm39) V413E probably damaging Het
Wdr7 A T 18: 63,911,059 (GRCm39) D817V probably damaging Het
Zbtb38 G A 9: 96,570,700 (GRCm39) S128L probably damaging Het
Zfhx4 T A 3: 5,464,922 (GRCm39) H1718Q probably damaging Het
Zfp945 G A 17: 23,071,228 (GRCm39) H245Y 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
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
Predicted Primers PCR Primer
(F):5'- CTTTTGCAGTGGAGCGGAAC -3'
(R):5'- TGCTGTTCAGGGACAGGATG -3'

Sequencing Primer
(F):5'- AACGAGTGGATGCAGGCCC -3'
(R):5'- AGAGGGGAGATGCTGTCC -3'
Posted On 2022-11-14