Incidental Mutation 'R2135:Arap3'
ID 235762
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 040138-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.813) question?
Stock # R2135 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 38105681-38132022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38107509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1336 (D1336G)
Ref Sequence ENSEMBL: ENSMUSP00000035662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042944] [ENSMUST00000043437] [ENSMUST00000163131] [ENSMUST00000164222] [ENSMUST00000166148]
AlphaFold Q8R5G7
Predicted Effect probably damaging
Transcript: ENSMUST00000042944
AA Change: D1336G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: D1336G

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 0.1066 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (70/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,885,509 (GRCm39) H116Q probably benign Het
Adamts16 C A 13: 70,949,126 (GRCm39) L178F probably damaging Het
Adgrv1 A G 13: 81,672,676 (GRCm39) probably null Het
Akap9 A G 5: 4,114,509 (GRCm39) T46A probably damaging Het
Ankrd2 T C 19: 42,032,498 (GRCm39) L253P probably damaging Het
Cacna2d2 C A 9: 107,403,712 (GRCm39) L992I possibly damaging Het
Cdhr2 T A 13: 54,868,760 (GRCm39) I574N probably damaging Het
Cecr2 C T 6: 120,697,923 (GRCm39) T74M probably damaging Het
Ces5a C A 8: 94,226,369 (GRCm39) E481D probably benign Het
Cfap74 C G 4: 155,514,397 (GRCm39) N544K probably damaging Het
Cfap74 T A 4: 155,514,408 (GRCm39) L548Q probably damaging Het
Cfb C T 17: 35,076,254 (GRCm39) V1145I possibly damaging Het
CK137956 A G 4: 127,845,433 (GRCm39) probably benign Het
Commd10 T A 18: 47,123,604 (GRCm39) L153Q possibly damaging Het
Cox6c T C 15: 35,937,429 (GRCm39) probably benign Het
Dock4 A G 12: 40,795,667 (GRCm39) Y828C probably benign Het
Ermp1 T C 19: 29,623,465 (GRCm39) D119G possibly damaging Het
Ext1 G T 15: 52,965,140 (GRCm39) Q409K possibly damaging Het
Fat4 A T 3: 39,034,882 (GRCm39) I2845F probably damaging Het
Frmd6 A G 12: 70,941,771 (GRCm39) N494S probably benign Het
Fscn3 A G 6: 28,431,583 (GRCm39) T305A probably benign Het
Gbx1 G T 5: 24,731,220 (GRCm39) R199S possibly damaging Het
Gm11437 T C 11: 84,044,638 (GRCm39) R192G probably damaging Het
Gucy2c T A 6: 136,700,726 (GRCm39) D572V probably damaging Het
Idh1 A C 1: 65,201,078 (GRCm39) M291R probably damaging Het
Kcnt2 A G 1: 140,356,551 (GRCm39) Y330C probably damaging Het
Kdm4a A G 4: 117,999,656 (GRCm39) L922P probably damaging Het
L3mbtl2 A G 15: 81,566,215 (GRCm39) D346G possibly damaging Het
Lsm14a A G 7: 34,070,609 (GRCm39) S96P probably damaging Het
Ltn1 A G 16: 87,179,601 (GRCm39) L1520P probably damaging Het
Marchf6 A T 15: 31,509,910 (GRCm39) C26* probably null Het
Msra G A 14: 64,360,657 (GRCm39) P228L probably damaging Het
Mycbp2 A T 14: 103,383,378 (GRCm39) D395E probably benign Het
Mycbp2 T C 14: 103,446,329 (GRCm39) Y1800C probably damaging Het
Ncr1 C A 7: 4,343,756 (GRCm39) probably benign Het
Nkd1 T C 8: 89,318,278 (GRCm39) I201T probably benign Het
Nsrp1 A T 11: 76,945,834 (GRCm39) probably benign Het
Or2t48 A C 11: 58,420,611 (GRCm39) I67S probably damaging Het
Or7e177 T A 9: 20,211,593 (GRCm39) D32E probably benign Het
Pate5 A C 9: 35,750,479 (GRCm39) probably null Het
Pkdrej T C 15: 85,700,707 (GRCm39) Y1743C probably damaging Het
Plekha5 T A 6: 140,526,225 (GRCm39) H281Q possibly damaging Het
Ppp2r3d A C 9: 101,088,757 (GRCm39) M522R probably damaging Het
Prdm12 T C 2: 31,530,325 (GRCm39) F72S possibly damaging Het
Prima1 A T 12: 103,168,949 (GRCm39) F106L probably damaging Het
Ptchd4 A G 17: 42,627,965 (GRCm39) H142R probably benign Het
Rasgrf2 G A 13: 92,120,374 (GRCm39) A793V probably benign Het
Rbsn T A 6: 92,166,854 (GRCm39) M597L probably benign Het
Ripk4 A T 16: 97,544,933 (GRCm39) D571E probably damaging Het
Rp9 T C 9: 22,379,425 (GRCm39) K25E possibly damaging Het
Sec31b T C 19: 44,523,135 (GRCm39) S211G probably damaging Het
Shank2 C T 7: 143,964,971 (GRCm39) P1070S probably damaging Het
Sla A G 15: 66,654,563 (GRCm39) V241A probably benign Het
Slc25a40 A G 5: 8,477,489 (GRCm39) T25A possibly damaging Het
Slc3a2 A G 19: 8,685,608 (GRCm39) S164P probably benign Het
Slc7a5 A T 8: 122,610,444 (GRCm39) W457R probably null Het
Slco6c1 A G 1: 97,032,542 (GRCm39) M303T probably benign Het
Smim10l1 T C 6: 133,082,489 (GRCm39) F12S probably damaging Het
Syne2 A G 12: 75,999,560 (GRCm39) I2318V probably damaging Het
Tecta A C 9: 42,251,581 (GRCm39) C1781G probably damaging Het
Timmdc1 A T 16: 38,319,313 (GRCm39) H280Q probably benign Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tmem30b A G 12: 73,592,107 (GRCm39) L336P probably damaging Het
Tmem94 A G 11: 115,685,575 (GRCm39) I943V probably benign Het
Tshb A G 3: 102,685,464 (GRCm39) probably null Het
Vcpip1 A G 1: 9,818,035 (GRCm39) V116A probably benign Het
Vmn2r76 A G 7: 85,880,219 (GRCm39) Y156H probably benign Het
Zcrb1 T C 15: 93,295,067 (GRCm39) N23S probably damaging Het
Zfyve26 T C 12: 79,292,826 (GRCm39) R2108G possibly 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
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'- AGGCACACTGTTTCCTCCTG -3'
(R):5'- TGCTGCTAGGACTCCTTCAG -3'

Sequencing Primer
(F):5'- GCACACTGTTTCCTCCTGCAATAG -3'
(R):5'- TGGGACTGGACCACAAGCATC -3'
Posted On 2014-10-01