Incidental Mutation 'R1843:Arap3'
ID 207490
Institutional Source Beutler Lab
Gene Symbol Arap3
Ensembl Gene ENSMUSG00000024451
Gene Name ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3
Synonyms DRAG1, E030006K04Rik, Centd3
MMRRC Submission 039868-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.780) question?
Stock # R1843 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37972624-37997574 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 37975583 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 1265 (R1265W)
Ref Sequence ENSEMBL: ENSMUSP00000035662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042944]
AlphaFold Q8R5G7
Predicted Effect probably damaging
Transcript: ENSMUST00000042944
AA Change: R1265W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: R1265W

DomainStartEndE-ValueType
SAM 1 68 1.5e-7 SMART
low complexity region 81 98 N/A INTRINSIC
low complexity region 134 142 N/A INTRINSIC
PH 283 376 3.4e-16 SMART
PH 390 480 1.61e-8 SMART
ArfGap 484 606 1.44e-25 SMART
low complexity region 642 661 N/A INTRINSIC
PH 671 785 2.86e1 SMART
PH 795 901 6.87e-3 SMART
RhoGAP 913 1089 2.11e-47 SMART
Pfam:RA 1113 1206 6.2e-16 PFAM
PH 1220 1323 3.46e-8 SMART
low complexity region 1388 1407 N/A INTRINSIC
low complexity region 1457 1469 N/A INTRINSIC
low complexity region 1475 1486 N/A INTRINSIC
low complexity region 1494 1529 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184293
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency
MGI Phenotype Strain: 5428754
Lethality: E10-E11
FUNCTION: This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele die around E11 exhibiting pallor, embryonic growth arrest, yolk sac and placental abnormalities, and an endothelial cell-autonomous defect in sprouting angiogenesis. Knock-in mice homozygous for a point mutation display similar angiogenesis defects. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted(5)

Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik C T 8: 105,708,974 (GRCm38) T88M probably damaging Het
9430038I01Rik A G 7: 137,377,066 (GRCm38) probably benign Het
Adgra3 A C 5: 49,961,492 (GRCm38) S905A probably damaging Het
Adgrv1 A G 13: 81,544,533 (GRCm38) Y1618H probably damaging Het
Anapc15-ps T C 10: 95,673,314 (GRCm38) T26A probably benign Het
Ankrd13d T C 19: 4,271,595 (GRCm38) K360E probably damaging Het
Anks1b T A 10: 90,512,889 (GRCm38) probably null Het
Apob T C 12: 8,007,602 (GRCm38) F2028S possibly damaging Het
Arhgef37 A G 18: 61,518,050 (GRCm38) Y135H probably damaging Het
Armh3 A C 19: 45,975,252 (GRCm38) S42R probably benign Het
Atp1a1 T C 3: 101,582,017 (GRCm38) T760A probably benign Het
Cdc42bpb T A 12: 111,322,821 (GRCm38) M497L probably benign Het
Ces5a C T 8: 93,514,231 (GRCm38) V413M probably damaging Het
Chd5 A T 4: 152,385,806 (GRCm38) Y1903F probably damaging Het
Chd9 T A 8: 91,010,794 (GRCm38) N1500K probably benign Het
Chmp7 G T 14: 69,719,799 (GRCm38) D303E probably benign Het
Chrnb4 A T 9: 55,034,818 (GRCm38) Y391N possibly damaging Het
Crtc1 T C 8: 70,388,152 (GRCm38) T475A probably benign Het
Cyp2c69 A G 19: 39,877,528 (GRCm38) I207T probably benign Het
Dcp1a A G 14: 30,518,983 (GRCm38) E250G probably damaging Het
Ddx20 T C 3: 105,679,082 (GRCm38) Q649R probably benign Het
Defb12 T A 8: 19,112,738 (GRCm38) K59N probably damaging Het
Dpy19l3 A T 7: 35,729,760 (GRCm38) I85N probably damaging Het
Duox2 C T 2: 122,292,258 (GRCm38) probably null Het
Ebi3 T A 17: 55,956,679 (GRCm38) Y197N probably damaging Het
Emc1 G A 4: 139,375,512 (GRCm38) R994Q probably benign Het
Ercc6 G T 14: 32,546,820 (GRCm38) M530I probably damaging Het
Evl T A 12: 108,652,996 (GRCm38) D70E probably damaging Het
Fbln2 A G 6: 91,265,775 (GRCm38) N819S probably damaging Het
Foxk2 A G 11: 121,285,537 (GRCm38) I170V probably benign Het
Gfm1 T C 3: 67,435,610 (GRCm38) V159A probably damaging Het
Gm10837 A G 14: 122,490,765 (GRCm38) T18A unknown Het
Gm12887 A T 4: 121,622,030 (GRCm38) V25E probably damaging Het
Hectd4 A G 5: 121,297,180 (GRCm38) H985R possibly damaging Het
Hsfy2 A G 1: 56,636,632 (GRCm38) Y249H possibly damaging Het
Hspg2 T C 4: 137,545,567 (GRCm38) V2639A probably damaging Het
Igf2r A G 17: 12,704,270 (GRCm38) probably null Het
Invs T A 4: 48,422,035 (GRCm38) I889N probably damaging Het
Kcnq1 A T 7: 143,183,120 (GRCm38) M209L probably benign Het
Klra7 A G 6: 130,229,994 (GRCm38) I48T possibly damaging Het
Krt26 CTAGTA CTA 11: 99,333,526 (GRCm38) probably benign Het
Lrif1 T A 3: 106,732,811 (GRCm38) V404D probably damaging Het
Lrriq1 T A 10: 103,227,173 (GRCm38) probably null Het
Lypd6 T A 2: 50,188,762 (GRCm38) I90N possibly damaging Het
Mbp A G 18: 82,584,122 (GRCm38) D174G probably damaging Het
Megf9 G T 4: 70,534,785 (GRCm38) P13Q probably damaging Het
Myo15b A T 11: 115,869,586 (GRCm38) T1155S probably benign Het
Nherf2 C T 17: 24,641,719 (GRCm38) S150N possibly damaging Het
Nlrp6 T A 7: 140,923,093 (GRCm38) C371S probably damaging Het
Nosip T A 7: 45,077,309 (GRCm38) probably null Het
Nox3 G T 17: 3,669,878 (GRCm38) P344H probably damaging Het
Nup210l T C 3: 90,172,086 (GRCm38) V959A probably damaging Het
Olfr175-ps1 T A 16: 58,824,077 (GRCm38) I211F probably damaging Het
Or10d1 A G 9: 39,572,735 (GRCm38) Y175H possibly damaging Het
Or2b2b C A 13: 21,674,672 (GRCm38) V91L probably benign Het
Or2k2 T C 4: 58,785,384 (GRCm38) I113V probably benign Het
Or5b119 A G 19: 13,479,931 (GRCm38) I89T probably benign Het
Osbpl3 A C 6: 50,370,143 (GRCm38) S25A probably damaging Het
Otog G A 7: 46,246,283 (GRCm38) C107Y probably damaging Het
Pax7 G A 4: 139,784,491 (GRCm38) R260C probably damaging Het
Pbrm1 A T 14: 31,038,957 (GRCm38) I224F probably damaging Het
Pcdh1 T A 18: 38,192,225 (GRCm38) probably null Het
Pcnx1 T C 12: 81,980,935 (GRCm38) L1585P probably damaging Het
Pde4c C T 8: 70,747,950 (GRCm38) H362Y probably damaging Het
Pdlim2 C T 14: 70,164,779 (GRCm38) R296H probably damaging Het
Pgm2 A T 4: 99,961,478 (GRCm38) Q90L probably damaging Het
Phlpp1 A G 1: 106,343,505 (GRCm38) H814R probably benign Het
Pknox2 A T 9: 36,954,831 (GRCm38) M5K possibly damaging Het
Pole G A 5: 110,330,835 (GRCm38) probably null Het
Polr1b A G 2: 129,102,966 (GRCm38) I61V probably benign Het
Prelp T C 1: 133,914,757 (GRCm38) K217E probably damaging Het
Prkce C T 17: 86,475,546 (GRCm38) Q202* probably null Het
Psmd2 T G 16: 20,656,582 (GRCm38) M370R probably benign Het
Rimklb A T 6: 122,464,009 (GRCm38) H68Q probably damaging Het
Rnasel A G 1: 153,754,674 (GRCm38) D312G possibly damaging Het
Rxrg A T 1: 167,598,752 (GRCm38) M1L probably benign Het
Scrn1 A G 6: 54,522,841 (GRCm38) F220L possibly damaging Het
Scyl3 A G 1: 163,950,675 (GRCm38) S461G probably benign Het
Serpina1c T A 12: 103,895,023 (GRCm38) T411S probably benign Het
Serpinb6d C T 13: 33,671,381 (GRCm38) P346L probably benign Het
Shld2 A G 14: 34,267,803 (GRCm38) I382T probably benign Het
Spg21 G T 9: 65,465,336 (GRCm38) V17F probably damaging Het
Spink5 A T 18: 43,999,891 (GRCm38) M525L probably benign Het
Sun2 T C 15: 79,737,563 (GRCm38) T155A probably benign Het
Tchh T A 3: 93,446,780 (GRCm38) F1176I unknown Het
Tex15 T A 8: 33,576,654 (GRCm38) D2037E probably benign Het
Tfdp2 T C 9: 96,317,804 (GRCm38) C392R possibly damaging Het
Tmem30c T C 16: 57,276,780 (GRCm38) N139S probably benign Het
Tns2 C T 15: 102,113,133 (GRCm38) probably null Het
Trim66 T C 7: 109,475,839 (GRCm38) E405G probably damaging Het
Trpc4 T A 3: 54,279,994 (GRCm38) F456I probably benign Het
Tspo2 T C 17: 48,448,790 (GRCm38) D108G possibly damaging Het
Tyk2 A T 9: 21,121,554 (GRCm38) C304* probably null Het
Vgll4 A T 6: 114,862,795 (GRCm38) S185T probably benign Het
Vmn2r94 A C 17: 18,244,470 (GRCm38) S519R probably benign Het
Vmn2r96 T G 17: 18,597,921 (GRCm38) S587A probably benign Het
Vps4b C A 1: 106,778,982 (GRCm38) A287S possibly damaging Het
Yeats2 C T 16: 20,229,564 (GRCm38) P1332S probably benign Het
Zfp462 T G 4: 55,010,010 (GRCm38) S659A possibly damaging Het
Zfp507 C T 7: 35,793,725 (GRCm38) R631Q probably damaging Het
Zfp764l1 A C 7: 127,391,488 (GRCm38) D442E probably benign Het
Zswim5 G T 4: 116,877,699 (GRCm38) E80D unknown Het
Other mutations in Arap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Arap3 APN 18 37,975,926 (GRCm38) missense probably damaging 1.00
IGL01145:Arap3 APN 18 37,989,179 (GRCm38) missense probably benign
IGL01154:Arap3 APN 18 37,996,734 (GRCm38) missense probably benign 0.28
IGL01305:Arap3 APN 18 37,991,327 (GRCm38) critical splice donor site probably null
IGL01542:Arap3 APN 18 37,990,836 (GRCm38) missense probably damaging 0.98
IGL01543:Arap3 APN 18 37,990,836 (GRCm38) missense probably damaging 0.98
IGL01544:Arap3 APN 18 37,990,836 (GRCm38) missense probably damaging 0.98
IGL01545:Arap3 APN 18 37,990,836 (GRCm38) missense probably damaging 0.98
IGL01677:Arap3 APN 18 37,996,647 (GRCm38) missense probably benign
IGL01925:Arap3 APN 18 37,984,246 (GRCm38) missense probably benign 0.21
IGL01933:Arap3 APN 18 37,978,453 (GRCm38) missense possibly damaging 0.65
IGL02048:Arap3 APN 18 37,996,979 (GRCm38) missense possibly damaging 0.56
IGL02064:Arap3 APN 18 37,991,701 (GRCm38) missense probably damaging 1.00
IGL02207:Arap3 APN 18 37,987,853 (GRCm38) missense probably benign 0.00
IGL02376:Arap3 APN 18 37,978,453 (GRCm38) missense possibly damaging 0.95
IGL02531:Arap3 APN 18 37,989,751 (GRCm38) missense probably damaging 0.99
IGL02568:Arap3 APN 18 37,996,658 (GRCm38) missense probably benign 0.32
IGL02640:Arap3 APN 18 37,987,802 (GRCm38) missense possibly damaging 0.71
IGL02658:Arap3 APN 18 37,990,994 (GRCm38) missense probably benign 0.09
IGL03090:Arap3 APN 18 37,989,112 (GRCm38) missense probably benign 0.00
IGL03352:Arap3 APN 18 37,981,302 (GRCm38) splice site probably benign
ANU22:Arap3 UTSW 18 37,991,327 (GRCm38) critical splice donor site probably null
P0016:Arap3 UTSW 18 37,984,348 (GRCm38) missense probably benign 0.00
PIT4260001:Arap3 UTSW 18 37,996,895 (GRCm38) missense probably benign 0.08
R0066:Arap3 UTSW 18 37,996,707 (GRCm38) missense probably benign 0.01
R0324:Arap3 UTSW 18 37,973,225 (GRCm38) missense possibly damaging 0.93
R0562:Arap3 UTSW 18 37,975,540 (GRCm38) missense probably damaging 1.00
R1289:Arap3 UTSW 18 37,981,973 (GRCm38) missense possibly damaging 0.95
R1346:Arap3 UTSW 18 37,975,918 (GRCm38) missense probably damaging 1.00
R1419:Arap3 UTSW 18 37,978,432 (GRCm38) missense possibly damaging 0.51
R1470:Arap3 UTSW 18 37,989,196 (GRCm38) critical splice acceptor site probably null
R1470:Arap3 UTSW 18 37,989,196 (GRCm38) critical splice acceptor site probably null
R1537:Arap3 UTSW 18 37,989,684 (GRCm38) critical splice donor site probably null
R1644:Arap3 UTSW 18 37,984,245 (GRCm38) missense probably damaging 1.00
R1731:Arap3 UTSW 18 37,989,912 (GRCm38) missense probably benign 0.01
R1758:Arap3 UTSW 18 37,989,912 (GRCm38) missense probably benign 0.01
R1907:Arap3 UTSW 18 37,996,671 (GRCm38) missense probably benign 0.28
R1954:Arap3 UTSW 18 37,982,002 (GRCm38) missense probably damaging 1.00
R2124:Arap3 UTSW 18 37,973,350 (GRCm38) missense probably damaging 0.98
R2135:Arap3 UTSW 18 37,974,456 (GRCm38) missense probably damaging 1.00
R2172:Arap3 UTSW 18 37,990,560 (GRCm38) missense probably damaging 1.00
R2418:Arap3 UTSW 18 37,989,944 (GRCm38) missense probably damaging 1.00
R2419:Arap3 UTSW 18 37,989,944 (GRCm38) missense probably damaging 1.00
R2907:Arap3 UTSW 18 37,990,527 (GRCm38) missense possibly damaging 0.88
R4425:Arap3 UTSW 18 37,978,600 (GRCm38) missense probably damaging 1.00
R4669:Arap3 UTSW 18 37,996,254 (GRCm38) missense probably benign 0.08
R4734:Arap3 UTSW 18 37,996,275 (GRCm38) missense probably benign 0.00
R4815:Arap3 UTSW 18 37,973,243 (GRCm38) missense probably benign
R5328:Arap3 UTSW 18 37,991,687 (GRCm38) missense possibly damaging 0.92
R5350:Arap3 UTSW 18 37,982,035 (GRCm38) missense probably damaging 1.00
R5466:Arap3 UTSW 18 37,996,736 (GRCm38) missense probably benign 0.00
R5482:Arap3 UTSW 18 37,974,674 (GRCm38) missense possibly damaging 0.95
R5572:Arap3 UTSW 18 37,991,066 (GRCm38) missense probably damaging 1.00
R5779:Arap3 UTSW 18 37,984,365 (GRCm38) missense probably damaging 1.00
R6053:Arap3 UTSW 18 37,990,771 (GRCm38) missense probably damaging 0.98
R6144:Arap3 UTSW 18 37,985,433 (GRCm38) missense probably damaging 0.98
R6166:Arap3 UTSW 18 37,974,370 (GRCm38) missense probably damaging 1.00
R6248:Arap3 UTSW 18 37,991,354 (GRCm38) missense probably benign 0.09
R6266:Arap3 UTSW 18 37,990,791 (GRCm38) missense probably damaging 0.98
R6385:Arap3 UTSW 18 37,997,031 (GRCm38) nonsense probably null
R6694:Arap3 UTSW 18 37,991,537 (GRCm38) critical splice donor site probably null
R6856:Arap3 UTSW 18 37,979,863 (GRCm38) missense possibly damaging 0.95
R7073:Arap3 UTSW 18 37,974,442 (GRCm38) nonsense probably null
R7297:Arap3 UTSW 18 37,973,563 (GRCm38) missense possibly damaging 0.81
R7352:Arap3 UTSW 18 37,973,278 (GRCm38) missense probably benign 0.00
R7652:Arap3 UTSW 18 37,978,452 (GRCm38) missense probably damaging 0.99
R7726:Arap3 UTSW 18 37,989,467 (GRCm38) missense probably damaging 0.99
R7747:Arap3 UTSW 18 37,988,888 (GRCm38) splice site probably null
R7944:Arap3 UTSW 18 37,989,179 (GRCm38) missense probably benign
R8152:Arap3 UTSW 18 37,991,357 (GRCm38) missense possibly damaging 0.61
R8338:Arap3 UTSW 18 37,973,630 (GRCm38) missense probably damaging 0.99
R8549:Arap3 UTSW 18 37,973,312 (GRCm38) missense probably benign 0.17
R8793:Arap3 UTSW 18 37,974,439 (GRCm38) missense probably benign 0.04
R8876:Arap3 UTSW 18 37,997,024 (GRCm38) missense possibly damaging 0.67
R9142:Arap3 UTSW 18 37,979,881 (GRCm38) missense possibly damaging 0.80
R9237:Arap3 UTSW 18 37,979,881 (GRCm38) missense possibly damaging 0.80
R9583:Arap3 UTSW 18 37,976,043 (GRCm38) missense probably damaging 0.97
R9696:Arap3 UTSW 18 37,979,852 (GRCm38) missense probably damaging 1.00
X0011:Arap3 UTSW 18 37,974,101 (GRCm38) critical splice donor site probably null
X0026:Arap3 UTSW 18 37,985,311 (GRCm38) critical splice donor site probably null
X0027:Arap3 UTSW 18 37,973,485 (GRCm38) splice site probably null
X0066:Arap3 UTSW 18 37,991,646 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCTAGAGATACTCACAGGTGC -3'
(R):5'- GTGGCATCAGGAGCCATAAC -3'

Sequencing Primer
(F):5'- GAGATACTCACAGGTGCATCTTTTC -3'
(R):5'- GTGGCATCAGGAGCCATAACTTTAC -3'
Posted On 2014-06-23