Incidental Mutation 'R4815:Arap3'
ID 369748
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 042433-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.814) question?
Stock # R4815 (G1)
Quality Score 180
Status Validated
Chromosome 18
Chromosomal Location 38105681-38132022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38106296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1516 (T1516A)
Ref Sequence ENSEMBL: ENSMUSP00000035662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042944] [ENSMUST00000043437] [ENSMUST00000163131] [ENSMUST00000164222] [ENSMUST00000166148]
AlphaFold Q8R5G7
Predicted Effect probably benign
Transcript: ENSMUST00000042944
AA Change: T1516A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: T1516A

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 probably benign
Transcript: ENSMUST00000043437
SMART Domains Protein: ENSMUSP00000047878
Gene: ENSMUSG00000038524

DomainStartEndE-ValueType
Pfam:FCH 21 100 1.6e-19 PFAM
coiled coil region 188 209 N/A INTRINSIC
low complexity region 346 357 N/A INTRINSIC
SH3 469 526 1.34e-8 SMART
SH3 547 606 1.94e-14 SMART
low complexity region 622 634 N/A INTRINSIC
low complexity region 657 686 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163131
SMART Domains Protein: ENSMUSP00000133058
Gene: ENSMUSG00000038524

DomainStartEndE-ValueType
Pfam:FCH 12 107 1.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164222
SMART Domains Protein: ENSMUSP00000128481
Gene: ENSMUSG00000038524

DomainStartEndE-ValueType
Pfam:FCH 12 56 2.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166148
SMART Domains Protein: ENSMUSP00000129825
Gene: ENSMUSG00000038524

DomainStartEndE-ValueType
Pfam:FCH 12 93 1.6e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184293
Meta Mutation Damage Score 0.0715 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 96% (76/79)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 A T 18: 65,483,026 (GRCm39) N327K probably damaging Het
Ank2 T C 3: 126,730,410 (GRCm39) T675A probably benign Het
Asb18 A T 1: 89,942,147 (GRCm39) N51K probably damaging Het
C7 A G 15: 5,088,887 (GRCm39) V18A probably benign Het
Caap1 A G 4: 94,389,497 (GRCm39) V279A probably benign Het
Cacnb2 A G 2: 14,879,591 (GRCm39) D21G probably damaging Het
Ccdc171 T C 4: 83,713,458 (GRCm39) S1166P probably damaging Het
Chgb A T 2: 132,635,219 (GRCm39) H387L probably benign Het
Chp2 G A 7: 121,820,123 (GRCm39) R91Q probably damaging Het
Chuk C A 19: 44,065,686 (GRCm39) G703* probably null Het
Clmn T C 12: 104,751,825 (GRCm39) D210G probably damaging Het
Cyp4f18 A G 8: 72,749,839 (GRCm39) V270A possibly damaging Het
Dgcr2 A G 16: 17,676,483 (GRCm39) probably benign Het
Diaph1 A T 18: 38,028,256 (GRCm39) V411D unknown Het
Dkk2 C T 3: 131,879,546 (GRCm39) A75V probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dnase2a T C 8: 85,636,506 (GRCm39) V187A probably benign Het
Dusp19 A G 2: 80,461,289 (GRCm39) M193V probably benign Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Golgb1 A T 16: 36,733,477 (GRCm39) Q908L possibly damaging Het
Hsp90aa1 T C 12: 110,661,660 (GRCm39) M119V possibly damaging Het
Ice2 C T 9: 69,314,400 (GRCm39) R50C probably damaging Het
Ifi208 A T 1: 173,510,403 (GRCm39) E186V probably damaging Het
Ift122 A G 6: 115,858,517 (GRCm39) K166E possibly damaging Het
Jcad T A 18: 4,675,223 (GRCm39) L995Q possibly damaging Het
Kcnc4 A T 3: 107,365,582 (GRCm39) C209S probably benign Het
Kmt2a G A 9: 44,732,553 (GRCm39) probably benign Het
Lrriq1 T A 10: 102,980,739 (GRCm39) L1465F probably benign Het
Map3k7 C A 4: 31,988,592 (GRCm39) T247N probably damaging Het
Mctp2 T G 7: 71,909,097 (GRCm39) Q72P possibly damaging Het
Miga1 T C 3: 151,996,443 (GRCm39) Y335C probably benign Het
Ms4a14 A T 19: 11,291,641 (GRCm39) N19K probably benign Het
Mylk G A 16: 34,715,295 (GRCm39) R541Q probably damaging Het
Nav3 T C 10: 109,659,413 (GRCm39) T735A probably benign Het
Nlgn1 T A 3: 25,490,194 (GRCm39) H511L probably damaging Het
Nlrp4a A T 7: 26,150,233 (GRCm39) E613D probably benign Het
Nuf2 A G 1: 169,338,037 (GRCm39) S247P probably damaging Het
Ocstamp A G 2: 165,240,102 (GRCm39) V28A probably benign Het
Odf2 A C 2: 29,792,252 (GRCm39) E155D possibly damaging Het
Odr4 A G 1: 150,250,597 (GRCm39) C294R probably damaging Het
Or2ag13 G A 7: 106,473,444 (GRCm39) P3S probably benign Het
Or8s16 T C 15: 98,210,561 (GRCm39) N290S probably damaging Het
Otud7a T C 7: 63,379,658 (GRCm39) probably null Het
Pacsin2 A T 15: 83,269,260 (GRCm39) D11E probably damaging Het
Pcdhga5 G A 18: 37,828,247 (GRCm39) V232I probably damaging Het
Plcb3 A G 19: 6,940,352 (GRCm39) I439T possibly damaging Het
Rag1 A G 2: 101,473,861 (GRCm39) V427A probably damaging Het
Ranbp10 A T 8: 106,552,757 (GRCm39) C128* probably null Het
Rbm8a2 A G 1: 175,806,024 (GRCm39) V151A probably damaging Het
S100pbp A G 4: 129,044,726 (GRCm39) probably benign Het
Serpinb5 G T 1: 106,800,069 (GRCm39) L86F probably damaging Het
Sgo2b T C 8: 64,384,448 (GRCm39) I183V probably benign Het
Slc25a25 A T 2: 32,310,422 (GRCm39) D112E probably damaging Het
Slc30a5 C T 13: 100,950,218 (GRCm39) V103I probably damaging Het
Slc9a2 A T 1: 40,758,009 (GRCm39) I183F probably benign Het
Srrm4 T A 5: 116,613,249 (GRCm39) K141N unknown Het
Tbc1d20 T C 2: 152,153,909 (GRCm39) probably benign Het
Tdpoz6 C T 3: 93,599,593 (GRCm39) V259M probably benign Het
Tep1 A G 14: 51,078,759 (GRCm39) L1498P probably damaging Het
Tgfbi T C 13: 56,779,933 (GRCm39) M494T probably benign Het
Tox A G 4: 6,823,033 (GRCm39) S95P probably benign Het
Tpr G A 1: 150,274,359 (GRCm39) V163I probably benign Het
Trpm7 A G 2: 126,700,412 (GRCm39) S2P probably damaging Het
Ttn A G 2: 76,546,429 (GRCm39) M32328T probably damaging Het
Vps39 A T 2: 120,169,040 (GRCm39) N289K probably benign Het
Xdh C T 17: 74,213,210 (GRCm39) A847T probably damaging Het
Xndc1 G A 7: 101,722,523 (GRCm39) G63R probably null Het
Ythdc2 A G 18: 45,018,307 (GRCm39) S1330G probably benign Het
Zc3h14 C G 12: 98,719,107 (GRCm39) D157E probably damaging Het
Zc3h7b A T 15: 81,677,864 (GRCm39) K949N probably damaging Het
Zp3r A T 1: 130,526,649 (GRCm39) Y185N 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
R1419:Arap3 UTSW 18 38,111,485 (GRCm39) missense possibly damaging 0.51
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
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'- AGTCATCCATCCAGGGCAGAAG -3'
(R):5'- GAGGTCCTTTGATCAACCCC -3'

Sequencing Primer
(F):5'- ATCCAGGGCAGAAGCAGCTC -3'
(R):5'- TCTCCAAGGCAAGCATGTTG -3'
Posted On 2016-02-04