Incidental Mutation 'R1419:Arap3'
ID 160012
Institutional Source Beutler Lab
Gene Symbol Arap3
Ensembl Gene ENSMUSG00000024451
Gene Name ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3
Synonyms Centd3, E030006K04Rik, DRAG1
MMRRC Submission 039475-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.814) question?
Stock # R1419 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 38105681-38132022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38111485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1144 (T1144A)
Ref Sequence ENSEMBL: ENSMUSP00000035662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042944]
AlphaFold Q8R5G7
Predicted Effect possibly damaging
Transcript: ENSMUST00000042944
AA Change: T1144A

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: T1144A

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: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.1%
Validation Efficiency
MGI Phenotype 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T A 7: 119,974,125 (GRCm39) M894K probably benign Het
Ablim1 C A 19: 57,123,065 (GRCm39) C173F probably damaging Het
Abtb2 G T 2: 103,539,765 (GRCm39) R710L probably benign Het
Arhgef12 A T 9: 42,938,516 (GRCm39) V92D probably damaging Het
Ash1l T G 3: 88,892,204 (GRCm39) M1361R probably damaging Het
Atm A C 9: 53,368,789 (GRCm39) N2337K probably benign Het
Cog7 T C 7: 121,555,215 (GRCm39) E316G probably damaging Het
Dsp A G 13: 38,370,671 (GRCm39) Y858C probably damaging Het
Enc1 G T 13: 97,382,692 (GRCm39) G401C probably damaging Het
Gata6 T C 18: 11,064,706 (GRCm39) V506A probably benign Het
Gm16380 C T 9: 53,791,471 (GRCm39) noncoding transcript Het
Hsd17b8 G A 17: 34,246,617 (GRCm39) R89C probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ift80 T A 3: 68,847,531 (GRCm39) N322Y probably damaging Het
Igsf9 T A 1: 172,325,578 (GRCm39) V1082E probably damaging Het
Katnal2 A T 18: 77,065,128 (GRCm39) L481Q possibly damaging Het
Kcnma1 T C 14: 23,417,710 (GRCm39) T713A probably damaging Het
Kif13a T C 13: 46,978,711 (GRCm39) T230A probably damaging Het
Klhl14 C A 18: 21,785,250 (GRCm39) R59L probably damaging Het
Mecom A G 3: 30,035,038 (GRCm39) C213R probably damaging Het
Mrpl13 T A 15: 55,397,717 (GRCm39) M178L probably benign Het
Myof T C 19: 37,890,359 (GRCm39) E1971G probably damaging Het
Naa10 A G X: 72,961,522 (GRCm39) V133A probably damaging Het
Nlrp4g G A 9: 124,349,434 (GRCm38) noncoding transcript Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Oplah T C 15: 76,182,120 (GRCm39) I1047V probably benign Het
Or4a15 T C 2: 89,193,666 (GRCm39) T36A probably damaging Het
Or4k47 A T 2: 111,451,640 (GRCm39) F260I probably benign Het
Or5al1 A G 2: 85,989,773 (GRCm39) *314Q probably null Het
Paip1 A G 13: 119,593,553 (GRCm39) D189G probably damaging Het
Pkn1 A G 8: 84,400,151 (GRCm39) F624L probably damaging Het
Plxnb1 C A 9: 108,943,454 (GRCm39) P1899H probably damaging Het
Rpa3 T A 6: 8,257,720 (GRCm39) E47D probably benign Het
Shoc1 T C 4: 59,064,457 (GRCm39) T826A possibly damaging Het
Snai2 C T 16: 14,526,044 (GRCm39) H232Y possibly damaging Het
Spint5 T C 2: 164,557,331 (GRCm39) S23P possibly damaging Het
St8sia2 G A 7: 73,616,742 (GRCm39) Q78* probably null Het
Tktl2 A G 8: 66,965,690 (GRCm39) N416S probably damaging Het
Tm7sf3 T A 6: 146,505,475 (GRCm39) I494F possibly damaging Het
Trf C T 9: 103,103,307 (GRCm39) V119M probably damaging Het
Other mutations in Arap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Arap3 APN 18 38,108,979 (GRCm39) missense probably damaging 1.00
IGL01145:Arap3 APN 18 38,122,232 (GRCm39) missense probably benign
IGL01154:Arap3 APN 18 38,129,787 (GRCm39) missense probably benign 0.28
IGL01305:Arap3 APN 18 38,124,380 (GRCm39) critical splice donor site probably null
IGL01542:Arap3 APN 18 38,123,889 (GRCm39) missense probably damaging 0.98
IGL01543:Arap3 APN 18 38,123,889 (GRCm39) missense probably damaging 0.98
IGL01544:Arap3 APN 18 38,123,889 (GRCm39) missense probably damaging 0.98
IGL01545:Arap3 APN 18 38,123,889 (GRCm39) missense probably damaging 0.98
IGL01677:Arap3 APN 18 38,129,700 (GRCm39) missense probably benign
IGL01925:Arap3 APN 18 38,117,299 (GRCm39) missense probably benign 0.21
IGL01933:Arap3 APN 18 38,111,506 (GRCm39) missense possibly damaging 0.65
IGL02048:Arap3 APN 18 38,130,032 (GRCm39) missense possibly damaging 0.56
IGL02064:Arap3 APN 18 38,124,754 (GRCm39) missense probably damaging 1.00
IGL02207:Arap3 APN 18 38,120,906 (GRCm39) missense probably benign 0.00
IGL02376:Arap3 APN 18 38,111,506 (GRCm39) missense possibly damaging 0.95
IGL02531:Arap3 APN 18 38,122,804 (GRCm39) missense probably damaging 0.99
IGL02568:Arap3 APN 18 38,129,711 (GRCm39) missense probably benign 0.32
IGL02640:Arap3 APN 18 38,120,855 (GRCm39) missense possibly damaging 0.71
IGL02658:Arap3 APN 18 38,124,047 (GRCm39) missense probably benign 0.09
IGL03090:Arap3 APN 18 38,122,165 (GRCm39) missense probably benign 0.00
IGL03352:Arap3 APN 18 38,114,355 (GRCm39) splice site probably benign
ANU22:Arap3 UTSW 18 38,124,380 (GRCm39) critical splice donor site probably null
P0016:Arap3 UTSW 18 38,117,401 (GRCm39) missense probably benign 0.00
PIT4260001:Arap3 UTSW 18 38,129,948 (GRCm39) missense probably benign 0.08
R0066:Arap3 UTSW 18 38,129,760 (GRCm39) missense probably benign 0.01
R0324:Arap3 UTSW 18 38,106,278 (GRCm39) missense possibly damaging 0.93
R0562:Arap3 UTSW 18 38,108,593 (GRCm39) missense probably damaging 1.00
R1289:Arap3 UTSW 18 38,115,026 (GRCm39) missense possibly damaging 0.95
R1346:Arap3 UTSW 18 38,108,971 (GRCm39) missense probably damaging 1.00
R1470:Arap3 UTSW 18 38,122,249 (GRCm39) critical splice acceptor site probably null
R1470:Arap3 UTSW 18 38,122,249 (GRCm39) critical splice acceptor site probably null
R1537:Arap3 UTSW 18 38,122,737 (GRCm39) critical splice donor site probably null
R1644:Arap3 UTSW 18 38,117,298 (GRCm39) missense probably damaging 1.00
R1731:Arap3 UTSW 18 38,122,965 (GRCm39) missense probably benign 0.01
R1758:Arap3 UTSW 18 38,122,965 (GRCm39) missense probably benign 0.01
R1843:Arap3 UTSW 18 38,108,636 (GRCm39) missense probably damaging 1.00
R1907:Arap3 UTSW 18 38,129,724 (GRCm39) missense probably benign 0.28
R1954:Arap3 UTSW 18 38,115,055 (GRCm39) missense probably damaging 1.00
R2124:Arap3 UTSW 18 38,106,403 (GRCm39) missense probably damaging 0.98
R2135:Arap3 UTSW 18 38,107,509 (GRCm39) missense probably damaging 1.00
R2172:Arap3 UTSW 18 38,123,613 (GRCm39) missense probably damaging 1.00
R2418:Arap3 UTSW 18 38,122,997 (GRCm39) missense probably damaging 1.00
R2419:Arap3 UTSW 18 38,122,997 (GRCm39) missense probably damaging 1.00
R2907:Arap3 UTSW 18 38,123,580 (GRCm39) missense possibly damaging 0.88
R4425:Arap3 UTSW 18 38,111,653 (GRCm39) missense probably damaging 1.00
R4669:Arap3 UTSW 18 38,129,307 (GRCm39) missense probably benign 0.08
R4734:Arap3 UTSW 18 38,129,328 (GRCm39) missense probably benign 0.00
R4815:Arap3 UTSW 18 38,106,296 (GRCm39) missense probably benign
R5328:Arap3 UTSW 18 38,124,740 (GRCm39) missense possibly damaging 0.92
R5350:Arap3 UTSW 18 38,115,088 (GRCm39) missense probably damaging 1.00
R5466:Arap3 UTSW 18 38,129,789 (GRCm39) missense probably benign 0.00
R5482:Arap3 UTSW 18 38,107,727 (GRCm39) missense possibly damaging 0.95
R5572:Arap3 UTSW 18 38,124,119 (GRCm39) missense probably damaging 1.00
R5779:Arap3 UTSW 18 38,117,418 (GRCm39) missense probably damaging 1.00
R6053:Arap3 UTSW 18 38,123,824 (GRCm39) missense probably damaging 0.98
R6144:Arap3 UTSW 18 38,118,486 (GRCm39) missense probably damaging 0.98
R6166:Arap3 UTSW 18 38,107,423 (GRCm39) missense probably damaging 1.00
R6248:Arap3 UTSW 18 38,124,407 (GRCm39) missense probably benign 0.09
R6266:Arap3 UTSW 18 38,123,844 (GRCm39) missense probably damaging 0.98
R6385:Arap3 UTSW 18 38,130,084 (GRCm39) nonsense probably null
R6694:Arap3 UTSW 18 38,124,590 (GRCm39) critical splice donor site probably null
R6856:Arap3 UTSW 18 38,112,916 (GRCm39) missense possibly damaging 0.95
R7073:Arap3 UTSW 18 38,107,495 (GRCm39) nonsense probably null
R7297:Arap3 UTSW 18 38,106,616 (GRCm39) missense possibly damaging 0.81
R7352:Arap3 UTSW 18 38,106,331 (GRCm39) missense probably benign 0.00
R7652:Arap3 UTSW 18 38,111,505 (GRCm39) missense probably damaging 0.99
R7726:Arap3 UTSW 18 38,122,520 (GRCm39) missense probably damaging 0.99
R7747:Arap3 UTSW 18 38,121,941 (GRCm39) splice site probably null
R7944:Arap3 UTSW 18 38,122,232 (GRCm39) missense probably benign
R8152:Arap3 UTSW 18 38,124,410 (GRCm39) missense possibly damaging 0.61
R8338:Arap3 UTSW 18 38,106,683 (GRCm39) missense probably damaging 0.99
R8549:Arap3 UTSW 18 38,106,365 (GRCm39) missense probably benign 0.17
R8793:Arap3 UTSW 18 38,107,492 (GRCm39) missense probably benign 0.04
R8876:Arap3 UTSW 18 38,130,077 (GRCm39) missense possibly damaging 0.67
R9142:Arap3 UTSW 18 38,112,934 (GRCm39) missense possibly damaging 0.80
R9237:Arap3 UTSW 18 38,112,934 (GRCm39) missense possibly damaging 0.80
R9583:Arap3 UTSW 18 38,109,096 (GRCm39) missense probably damaging 0.97
R9696:Arap3 UTSW 18 38,112,905 (GRCm39) missense probably damaging 1.00
X0011:Arap3 UTSW 18 38,107,154 (GRCm39) critical splice donor site probably null
X0026:Arap3 UTSW 18 38,118,364 (GRCm39) critical splice donor site probably null
X0027:Arap3 UTSW 18 38,106,538 (GRCm39) splice site probably null
X0066:Arap3 UTSW 18 38,124,699 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCTTTGCTGAAGCCAAGAGAAGAG -3'
(R):5'- CGCAGCTAAACATTCGTCGTGTTC -3'

Sequencing Primer
(F):5'- tgaagccaagagaagaggattaag -3'
(R):5'- ATCTTGGAGTTCTTACCAAGGC -3'
Posted On 2014-03-14