Incidental Mutation 'IGL01933:Arap3'
ID 180494
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arap3
Ensembl Gene ENSMUSG00000024451
Gene Name ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3
Synonyms Centd3, E030006K04Rik, DRAG1
Accession Numbers
Essential gene? Probably essential (E-score: 0.814) question?
Stock # IGL01933
Quality Score
Status
Chromosome 18
Chromosomal Location 38105681-38132022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38111506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 1137 (T1137S)
Ref Sequence ENSEMBL: ENSMUSP00000035662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042944]
AlphaFold Q8R5G7
Predicted Effect possibly damaging
Transcript: ENSMUST00000042944
AA Change: T1137S

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: T1137S

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
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,164,650 (GRCm39) V575F possibly damaging Het
Abca2 T A 2: 25,334,123 (GRCm39) V1800E probably damaging Het
Acacb C T 5: 114,322,251 (GRCm39) probably benign Het
Adam34 C A 8: 44,104,569 (GRCm39) G359W probably damaging Het
Ankrd42 G A 7: 92,254,493 (GRCm39) T372I probably benign Het
Apc2 A G 10: 80,147,574 (GRCm39) D847G probably damaging Het
Atp10b A C 11: 43,085,457 (GRCm39) T279P probably damaging Het
Bmp2 T A 2: 133,396,578 (GRCm39) M78K possibly damaging Het
Ccdc61 T G 7: 18,626,483 (GRCm39) M369L probably benign Het
Cep78 A T 19: 15,933,304 (GRCm39) I758N probably benign Het
Ces2a A G 8: 105,468,047 (GRCm39) *526W probably null Het
Cgnl1 C T 9: 71,552,765 (GRCm39) probably benign Het
Clec14a A G 12: 58,315,104 (GRCm39) Y173H probably damaging Het
Cntn4 G A 6: 106,671,345 (GRCm39) S976N probably damaging Het
Col6a4 G A 9: 105,937,313 (GRCm39) T1401I probably benign Het
D5Ertd579e T C 5: 36,773,100 (GRCm39) T432A probably benign Het
Dixdc1 G A 9: 50,614,558 (GRCm39) R163* probably null Het
Dmxl1 C A 18: 50,010,852 (GRCm39) T1003K probably benign Het
Dnah1 G A 14: 31,032,872 (GRCm39) R388W probably benign Het
Eci3 C T 13: 35,132,772 (GRCm39) A202T probably damaging Het
Egr2 T C 10: 67,376,024 (GRCm39) S220P probably damaging Het
Fntb C T 12: 76,966,880 (GRCm39) P405S probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm26602 C A 10: 79,746,955 (GRCm39) R236L probably benign Het
Hao2 T C 3: 98,787,648 (GRCm39) probably benign Het
Irgm2 A T 11: 58,110,783 (GRCm39) N170I possibly damaging Het
Klhl20 G A 1: 160,934,357 (GRCm39) R221W probably damaging Het
Kmt2b A G 7: 30,268,939 (GRCm39) probably null Het
Lrrc46 C T 11: 96,926,354 (GRCm39) E181K probably benign Het
Lztr1 T A 16: 17,338,455 (GRCm39) V226E probably damaging Het
Myh9 G T 15: 77,665,418 (GRCm39) D684E probably benign Het
Myo7a T C 7: 97,732,349 (GRCm39) T713A probably damaging Het
Nrap G T 19: 56,377,250 (GRCm39) N62K probably damaging Het
Or51a10 T C 7: 103,699,021 (GRCm39) Y180C probably damaging Het
Or5an1 A T 19: 12,261,069 (GRCm39) Y219F probably damaging Het
Osbp2 T C 11: 3,662,016 (GRCm39) D708G probably damaging Het
Pcnx2 G A 8: 126,488,393 (GRCm39) P1717L probably damaging Het
Pex1 A G 5: 3,683,789 (GRCm39) D1095G probably damaging Het
Ptpn3 T C 4: 57,197,576 (GRCm39) H771R probably benign Het
R3hcc1l G A 19: 42,551,389 (GRCm39) A129T probably damaging Het
Rbm15 G A 3: 107,238,419 (GRCm39) R660W probably damaging Het
Recql C T 6: 142,310,364 (GRCm39) V489M probably benign Het
Sash1 A T 10: 8,626,897 (GRCm39) S162R probably damaging Het
Sec11a T C 7: 80,584,810 (GRCm39) I42M probably benign Het
Slc25a23 G A 17: 57,359,813 (GRCm39) Q61* probably null Het
Son A T 16: 91,454,903 (GRCm39) M1217L probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Srgap2 T C 1: 131,339,593 (GRCm39) N123S probably damaging Het
Ssh1 T C 5: 114,088,441 (GRCm39) probably benign Het
St13 T C 15: 81,273,899 (GRCm39) probably null Het
St3gal3 A T 4: 117,889,072 (GRCm39) D57E probably damaging Het
Stk4 C T 2: 163,940,505 (GRCm39) probably benign Het
Tln1 T A 4: 43,539,508 (GRCm39) T1605S probably benign Het
Tln1 T C 4: 43,555,894 (GRCm39) T107A possibly damaging Het
Tmem135 G T 7: 88,793,065 (GRCm39) probably benign Het
Tmtc3 A G 10: 100,283,467 (GRCm39) M696T probably benign Het
Trbv28 T A 6: 41,248,761 (GRCm39) L97Q probably damaging Het
Trpc4ap A T 2: 155,481,455 (GRCm39) F534I possibly damaging Het
Trpm8 T C 1: 88,254,127 (GRCm39) Y117H probably damaging Het
Zfp608 T C 18: 55,120,871 (GRCm39) T239A probably benign Het
Zmym5 T G 14: 57,041,617 (GRCm39) H162P 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
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
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
Posted On 2014-05-07