Incidental Mutation 'IGL02207:Arap3'
| ID |
284558 |
| 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: 0.813)
|
| Stock # |
IGL02207
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
38105681-38132022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 38120906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 713
(A713V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042944]
|
| AlphaFold |
Q8R5G7 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
A |
G |
2: 26,992,993 (GRCm39) |
E702G |
probably damaging |
Het |
| Adgre5 |
T |
C |
8: 84,454,913 (GRCm39) |
T260A |
probably damaging |
Het |
| Agap3 |
A |
T |
5: 24,704,934 (GRCm39) |
T660S |
probably benign |
Het |
| Amotl2 |
A |
T |
9: 102,601,896 (GRCm39) |
E380V |
probably damaging |
Het |
| Ap4e1 |
A |
G |
2: 126,853,736 (GRCm39) |
E58G |
probably damaging |
Het |
| B4galt2 |
T |
C |
4: 117,738,718 (GRCm39) |
D33G |
probably damaging |
Het |
| Bbs7 |
A |
T |
3: 36,658,639 (GRCm39) |
S212T |
probably benign |
Het |
| Ccl26 |
A |
G |
5: 135,592,224 (GRCm39) |
Y38H |
probably benign |
Het |
| Ccne2 |
A |
T |
4: 11,202,261 (GRCm39) |
S339C |
probably benign |
Het |
| Cd55 |
A |
G |
1: 130,380,156 (GRCm39) |
V274A |
possibly damaging |
Het |
| Cenpw |
T |
G |
10: 30,074,577 (GRCm39) |
|
probably null |
Het |
| Cert1 |
T |
C |
13: 96,761,300 (GRCm39) |
|
probably null |
Het |
| Chrnb4 |
T |
C |
9: 54,942,500 (GRCm39) |
D258G |
probably damaging |
Het |
| Commd3 |
T |
C |
2: 18,678,819 (GRCm39) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2b23 |
C |
A |
7: 26,381,180 (GRCm39) |
R59L |
probably damaging |
Het |
| Edar |
G |
T |
10: 58,446,343 (GRCm39) |
T194K |
probably damaging |
Het |
| Edem3 |
A |
G |
1: 151,684,111 (GRCm39) |
I733V |
possibly damaging |
Het |
| Elmod2 |
T |
C |
8: 84,048,135 (GRCm39) |
Y109C |
probably benign |
Het |
| Eps15 |
C |
T |
4: 109,161,945 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,005,412 (GRCm39) |
V1937A |
probably benign |
Het |
| Fdx2 |
T |
A |
9: 20,979,415 (GRCm39) |
|
probably null |
Het |
| Flg2 |
A |
T |
3: 93,127,435 (GRCm39) |
I2116F |
unknown |
Het |
| Gm15091 |
A |
G |
X: 148,760,462 (GRCm39) |
D424G |
possibly damaging |
Het |
| Gm16380 |
T |
A |
9: 53,791,823 (GRCm39) |
|
noncoding transcript |
Het |
| Gpn2 |
G |
A |
4: 133,311,947 (GRCm39) |
V60M |
possibly damaging |
Het |
| Grip1 |
G |
A |
10: 119,911,214 (GRCm39) |
R1044K |
probably damaging |
Het |
| H2-D1 |
T |
A |
17: 35,482,390 (GRCm39) |
S37T |
possibly damaging |
Het |
| Havcr1 |
C |
T |
11: 46,669,403 (GRCm39) |
A294V |
probably benign |
Het |
| Herc4 |
G |
A |
10: 63,135,023 (GRCm39) |
|
probably null |
Het |
| Ift140 |
A |
G |
17: 25,274,572 (GRCm39) |
Y748C |
probably benign |
Het |
| Il20ra |
A |
G |
10: 19,627,326 (GRCm39) |
T242A |
probably damaging |
Het |
| Ilvbl |
G |
A |
10: 78,419,536 (GRCm39) |
|
probably null |
Het |
| Kif18a |
A |
T |
2: 109,127,052 (GRCm39) |
I329L |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,758,979 (GRCm39) |
I957F |
probably damaging |
Het |
| Krt1 |
A |
G |
15: 101,757,051 (GRCm39) |
I282T |
possibly damaging |
Het |
| Lamb1 |
T |
G |
12: 31,379,434 (GRCm39) |
V1768G |
probably damaging |
Het |
| Nek9 |
A |
T |
12: 85,350,257 (GRCm39) |
L939* |
probably null |
Het |
| Nfe2l2 |
A |
G |
2: 75,508,869 (GRCm39) |
L122P |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,103,431 (GRCm39) |
M270V |
probably damaging |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Nrde2 |
T |
C |
12: 100,097,190 (GRCm39) |
Y870C |
probably benign |
Het |
| Nsmce2 |
A |
G |
15: 59,287,927 (GRCm39) |
M71V |
probably benign |
Het |
| Ocstamp |
T |
C |
2: 165,239,583 (GRCm39) |
H201R |
possibly damaging |
Het |
| Oog4 |
T |
C |
4: 143,165,510 (GRCm39) |
I212M |
probably benign |
Het |
| Or11g2 |
G |
A |
14: 50,856,015 (GRCm39) |
G112D |
probably damaging |
Het |
| Or12e7 |
A |
G |
2: 87,287,794 (GRCm39) |
D95G |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,876,628 (GRCm39) |
T99A |
probably benign |
Het |
| Pdia4 |
A |
T |
6: 47,773,741 (GRCm39) |
M536K |
probably benign |
Het |
| Pdyn |
A |
T |
2: 129,530,438 (GRCm39) |
L77H |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,290,837 (GRCm39) |
|
probably null |
Het |
| Plcb1 |
A |
G |
2: 135,229,091 (GRCm39) |
E1105G |
probably damaging |
Het |
| Rb1 |
A |
T |
14: 73,443,525 (GRCm39) |
D743E |
probably damaging |
Het |
| Rdh14 |
G |
A |
12: 10,444,712 (GRCm39) |
V188I |
possibly damaging |
Het |
| Scd3 |
T |
C |
19: 44,204,028 (GRCm39) |
V72A |
possibly damaging |
Het |
| Shld1 |
A |
T |
2: 132,533,866 (GRCm39) |
|
probably benign |
Het |
| Slc25a27 |
G |
A |
17: 43,972,575 (GRCm39) |
R104W |
probably damaging |
Het |
| Slc29a4 |
A |
G |
5: 142,704,640 (GRCm39) |
D394G |
possibly damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,936,158 (GRCm39) |
I309N |
possibly damaging |
Het |
| Snx29 |
T |
G |
16: 11,556,216 (GRCm39) |
M407R |
probably damaging |
Het |
| Syf2 |
A |
G |
4: 134,662,363 (GRCm39) |
|
probably null |
Het |
| Syn1 |
T |
C |
X: 20,731,376 (GRCm39) |
Q321R |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,905,091 (GRCm39) |
D602V |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,523,323 (GRCm39) |
I1585F |
possibly damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,410,785 (GRCm39) |
|
probably benign |
Het |
| Trav6-2 |
G |
A |
14: 52,904,889 (GRCm39) |
V8M |
possibly damaging |
Het |
| Unc119b |
A |
G |
5: 115,272,813 (GRCm39) |
S53P |
probably benign |
Het |
| Vmp1 |
T |
A |
11: 86,498,019 (GRCm39) |
I299F |
possibly damaging |
Het |
| Xpot |
T |
C |
10: 121,449,485 (GRCm39) |
Y194C |
probably damaging |
Het |
| Zbtb10 |
T |
A |
3: 9,345,525 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Arap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2015-04-16 |
Incidental Mutation