Incidental Mutation 'IGL02207:Arap3'
ID284558
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arap3
Ensembl Gene ENSMUSG00000024451
Gene NameArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3
SynonymsDRAG1, E030006K04Rik, Centd3
Accession Numbers

NCBI RefSeq: NM_139206.2, NM_001205336.1; MGI:2147274

Is this an essential gene? Possibly non essential (E-score: 0.315) question?
Stock #IGL02207
Quality Score
Status
Chromosome18
Chromosomal Location37972624-37997574 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 37987853 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 713 (A713V)
Ref Sequence ENSEMBL: ENSMUSP00000035662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042944]
Predicted Effect probably benign
Transcript: ENSMUST00000042944
AA Change: A713V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: A713V

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: ENSMUST00000185063
Coding Region Coverage
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110034G24Rik A T 2: 132,691,946 probably benign Het
Adamtsl2 A G 2: 27,102,981 E702G probably damaging Het
Adgre5 T C 8: 83,728,284 T260A probably damaging Het
Agap3 A T 5: 24,499,936 T660S probably benign Het
Amotl2 A T 9: 102,724,697 E380V probably damaging Het
Ap4e1 A G 2: 127,011,816 E58G probably damaging Het
B4galt2 T C 4: 117,881,521 D33G probably damaging Het
Bbs7 A T 3: 36,604,490 S212T probably benign Het
Ccl26 A G 5: 135,563,370 Y38H probably benign Het
Ccne2 A T 4: 11,202,261 S339C probably benign Het
Cd55 A G 1: 130,452,419 V274A possibly damaging Het
Cenpw T G 10: 30,198,581 probably null Het
Chrnb4 T C 9: 55,035,216 D258G probably damaging Het
Col4a3bp T C 13: 96,624,792 probably null Het
Commd3 T C 2: 18,674,008 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2b23 C A 7: 26,681,755 R59L probably damaging Het
Edar G T 10: 58,610,521 T194K probably damaging Het
Edem3 A G 1: 151,808,360 I733V possibly damaging Het
Elmod2 T C 8: 83,321,506 Y109C probably benign Het
Eps15 C T 4: 109,304,748 probably benign Het
Fat4 T C 3: 38,951,263 V1937A probably benign Het
Fdx1l T A 9: 21,068,119 probably null Het
Flg2 A T 3: 93,220,128 I2116F unknown Het
Gm15091 A G X: 149,977,466 D424G possibly damaging Het
Gm16380 T A 9: 53,884,539 noncoding transcript Het
Gm6614 A T 6: 141,990,432 I309N possibly damaging Het
Gpn2 G A 4: 133,584,636 V60M possibly damaging Het
Grip1 G A 10: 120,075,309 R1044K probably damaging Het
H2-D1 T A 17: 35,263,414 S37T possibly damaging Het
Havcr1 C T 11: 46,778,576 A294V probably benign Het
Herc4 G A 10: 63,299,244 probably null Het
Ift140 A G 17: 25,055,598 Y748C probably benign Het
Il20ra A G 10: 19,751,578 T242A probably damaging Het
Ilvbl G A 10: 78,583,702 probably null Het
Kif18a A T 2: 109,296,707 I329L probably damaging Het
Kmt2a T A 9: 44,847,682 I957F probably damaging Het
Krt1 A G 15: 101,848,616 I282T possibly damaging Het
Lamb1 T G 12: 31,329,435 V1768G probably damaging Het
Nek9 A T 12: 85,303,483 L939* probably null Het
Nfe2l2 A G 2: 75,678,525 L122P probably damaging Het
Nin T C 12: 70,056,657 M270V probably damaging Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Nrde2 T C 12: 100,130,931 Y870C probably benign Het
Nsmce2 A G 15: 59,416,078 M71V probably benign Het
Ocstamp T C 2: 165,397,663 H201R possibly damaging Het
Olfr1126 A G 2: 87,457,450 D95G probably benign Het
Olfr744 G A 14: 50,618,558 G112D probably damaging Het
Oog4 T C 4: 143,438,940 I212M probably benign Het
Osmr T C 15: 6,847,147 T99A probably benign Het
Pdia4 A T 6: 47,796,807 M536K probably benign Het
Pdyn A T 2: 129,688,518 L77H probably damaging Het
Pikfyve T C 1: 65,251,678 probably null Het
Plcb1 A G 2: 135,387,171 E1105G probably damaging Het
Rb1 A T 14: 73,206,085 D743E probably damaging Het
Rdh14 G A 12: 10,394,712 V188I possibly damaging Het
Scd3 T C 19: 44,215,589 V72A possibly damaging Het
Slc25a27 G A 17: 43,661,684 R104W probably damaging Het
Slc29a4 A G 5: 142,718,885 D394G possibly damaging Het
Snx29 T G 16: 11,738,352 M407R probably damaging Het
Syf2 A G 4: 134,935,052 probably null Het
Syn1 T C X: 20,865,137 Q321R probably benign Het
Tbc1d12 A T 19: 38,916,647 D602V probably damaging Het
Tenm4 A T 7: 96,874,116 I1585F possibly damaging Het
Tgfbr1 A G 4: 47,410,785 probably benign Het
Trav6-2 G A 14: 52,667,432 V8M possibly damaging Het
Unc119b A G 5: 115,134,754 S53P probably benign Het
Vmp1 T A 11: 86,607,193 I299F possibly damaging Het
Xpot T C 10: 121,613,580 Y194C probably damaging Het
Zbtb10 T A 3: 9,280,465 probably null Het
Other mutations in Arap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Arap3 APN 18 37975926 missense probably damaging 1.00
IGL01145:Arap3 APN 18 37989179 missense probably benign
IGL01154:Arap3 APN 18 37996734 missense probably benign 0.28
IGL01305:Arap3 APN 18 37991327 critical splice donor site probably null
IGL01542:Arap3 APN 18 37990836 missense probably damaging 0.98
IGL01543:Arap3 APN 18 37990836 missense probably damaging 0.98
IGL01544:Arap3 APN 18 37990836 missense probably damaging 0.98
IGL01545:Arap3 APN 18 37990836 missense probably damaging 0.98
IGL01677:Arap3 APN 18 37996647 missense probably benign
IGL01925:Arap3 APN 18 37984246 missense probably benign 0.21
IGL01933:Arap3 APN 18 37978453 missense possibly damaging 0.65
IGL02048:Arap3 APN 18 37996979 missense possibly damaging 0.56
IGL02064:Arap3 APN 18 37991701 missense probably damaging 1.00
IGL02376:Arap3 APN 18 37978453 missense possibly damaging 0.95
IGL02531:Arap3 APN 18 37989751 missense probably damaging 0.99
IGL02568:Arap3 APN 18 37996658 missense probably benign 0.32
IGL02640:Arap3 APN 18 37987802 missense possibly damaging 0.71
IGL02658:Arap3 APN 18 37990994 missense probably benign 0.09
IGL03090:Arap3 APN 18 37989112 missense probably benign 0.00
IGL03352:Arap3 APN 18 37981302 splice site probably benign
ANU22:Arap3 UTSW 18 37991327 critical splice donor site probably null
P0016:Arap3 UTSW 18 37984348 missense probably benign 0.00
R0066:Arap3 UTSW 18 37996707 missense probably benign 0.01
R0324:Arap3 UTSW 18 37973225 missense possibly damaging 0.93
R0562:Arap3 UTSW 18 37975540 missense probably damaging 1.00
R1289:Arap3 UTSW 18 37981973 missense possibly damaging 0.95
R1346:Arap3 UTSW 18 37975918 missense probably damaging 1.00
R1419:Arap3 UTSW 18 37978432 missense possibly damaging 0.51
R1470:Arap3 UTSW 18 37989196 critical splice acceptor site probably null
R1470:Arap3 UTSW 18 37989196 critical splice acceptor site probably null
R1537:Arap3 UTSW 18 37989684 critical splice donor site probably null
R1644:Arap3 UTSW 18 37984245 missense probably damaging 1.00
R1731:Arap3 UTSW 18 37989912 missense probably benign 0.01
R1758:Arap3 UTSW 18 37989912 missense probably benign 0.01
R1843:Arap3 UTSW 18 37975583 missense probably damaging 1.00
R1907:Arap3 UTSW 18 37996671 missense probably benign 0.28
R1954:Arap3 UTSW 18 37982002 missense probably damaging 1.00
R2124:Arap3 UTSW 18 37973350 missense probably damaging 0.98
R2135:Arap3 UTSW 18 37974456 missense probably damaging 1.00
R2172:Arap3 UTSW 18 37990560 missense probably damaging 1.00
R2418:Arap3 UTSW 18 37989944 missense probably damaging 1.00
R2419:Arap3 UTSW 18 37989944 missense probably damaging 1.00
R2907:Arap3 UTSW 18 37990527 missense possibly damaging 0.88
R4425:Arap3 UTSW 18 37978600 missense probably damaging 1.00
R4669:Arap3 UTSW 18 37996254 missense probably benign 0.08
R4734:Arap3 UTSW 18 37996275 missense probably benign 0.00
R4815:Arap3 UTSW 18 37973243 missense probably benign
R5328:Arap3 UTSW 18 37991687 missense possibly damaging 0.92
R5350:Arap3 UTSW 18 37982035 missense probably damaging 1.00
R5466:Arap3 UTSW 18 37996736 missense probably benign 0.00
R5482:Arap3 UTSW 18 37974674 missense possibly damaging 0.95
R5572:Arap3 UTSW 18 37991066 missense probably damaging 1.00
R5779:Arap3 UTSW 18 37984365 missense probably damaging 1.00
R6053:Arap3 UTSW 18 37990771 missense probably damaging 0.98
R6144:Arap3 UTSW 18 37985433 missense probably damaging 0.98
R6166:Arap3 UTSW 18 37974370 missense probably damaging 1.00
R6248:Arap3 UTSW 18 37991354 missense probably benign 0.09
R6266:Arap3 UTSW 18 37990791 missense probably damaging 0.98
R6385:Arap3 UTSW 18 37997031 nonsense probably null
R6694:Arap3 UTSW 18 37991537 critical splice donor site probably null
R6856:Arap3 UTSW 18 37979863 missense possibly damaging 0.95
X0011:Arap3 UTSW 18 37974101 critical splice donor site probably null
X0026:Arap3 UTSW 18 37985311 critical splice donor site probably null
X0027:Arap3 UTSW 18 37973485 unclassified probably null
X0066:Arap3 UTSW 18 37991646 missense probably benign
Posted On2015-04-16