Incidental Mutation 'R4734:Arap3'
| ID |
359204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arap3
|
| Ensembl Gene |
ENSMUSG00000024451 |
| Gene Name |
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 |
| Synonyms |
DRAG1, E030006K04Rik, Centd3 |
| MMRRC Submission |
041961-MU
|
| Accession Numbers |
NCBI RefSeq: NM_139206.2, NM_001205336.1; MGI:2147274
|
| Essential gene? |
Probably essential
(E-score: 0.780)
|
| Stock # |
R4734 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37972624-37997574 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37996275 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 210
(V210A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042944]
|
| AlphaFold |
Q8R5G7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042944
AA Change: V210A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: V210A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029J07Rik |
A |
T |
8: 45,970,417 (GRCm38) |
M86K |
possibly damaging |
Het |
| 2700062C07Rik |
A |
G |
18: 24,470,904 (GRCm38) |
M1V |
probably null |
Het |
| Abcb11 |
T |
A |
2: 69,323,962 (GRCm38) |
T87S |
possibly damaging |
Het |
| Avl9 |
T |
C |
6: 56,736,494 (GRCm38) |
S246P |
probably damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,482,720 (GRCm38) |
K222R |
probably benign |
Het |
| Chsy3 |
C |
A |
18: 59,179,413 (GRCm38) |
F319L |
probably benign |
Het |
| Coro2b |
T |
C |
9: 62,426,578 (GRCm38) |
T345A |
probably benign |
Het |
| Cpb1 |
A |
G |
3: 20,263,712 (GRCm38) |
V216A |
probably benign |
Het |
| Cyp2c65 |
A |
G |
19: 39,072,334 (GRCm38) |
I213V |
probably benign |
Het |
| Dcaf15 |
A |
G |
8: 84,097,728 (GRCm38) |
C586R |
probably benign |
Het |
| Ddr2 |
T |
A |
1: 169,998,088 (GRCm38) |
E314D |
probably benign |
Het |
| Dennd5a |
C |
T |
7: 109,896,336 (GRCm38) |
R1196H |
probably damaging |
Het |
| Dnah9 |
G |
A |
11: 65,834,115 (GRCm38) |
A4404V |
probably damaging |
Het |
| Dpf2 |
A |
G |
19: 5,906,999 (GRCm38) |
|
probably null |
Het |
| Eif2ak4 |
A |
T |
2: 118,422,087 (GRCm38) |
H302L |
probably damaging |
Het |
| Eif2d |
G |
T |
1: 131,165,152 (GRCm38) |
R399L |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,311,468 (GRCm38) |
V260A |
probably benign |
Het |
| Fhod3 |
T |
A |
18: 25,028,135 (GRCm38) |
Y575N |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,474,470 (GRCm38) |
E74G |
possibly damaging |
Het |
| Gdpd2 |
G |
A |
X: 100,734,193 (GRCm38) |
M243I |
possibly damaging |
Het |
| Glra1 |
C |
A |
11: 55,536,384 (GRCm38) |
D42Y |
probably damaging |
Het |
| Gm281 |
T |
C |
14: 13,845,292 (GRCm38) |
N540S |
probably benign |
Het |
| Gm8882 |
T |
A |
6: 132,361,928 (GRCm38) |
N109I |
unknown |
Het |
| Gnl2 |
T |
C |
4: 125,041,018 (GRCm38) |
F156L |
probably benign |
Het |
| Gpr37 |
C |
A |
6: 25,689,086 (GRCm38) |
R4L |
possibly damaging |
Het |
| Hectd4 |
A |
T |
5: 121,341,977 (GRCm38) |
H2892L |
possibly damaging |
Het |
| Helb |
T |
C |
10: 120,084,849 (GRCm38) |
D1063G |
probably benign |
Het |
| Htr2c |
A |
G |
X: 147,193,797 (GRCm38) |
T163A |
probably benign |
Het |
| Impact |
T |
A |
18: 12,985,289 (GRCm38) |
H188Q |
probably damaging |
Het |
| Kirrel |
C |
T |
3: 87,089,151 (GRCm38) |
M380I |
probably null |
Het |
| Lnx2 |
C |
T |
5: 147,029,137 (GRCm38) |
G391R |
probably damaging |
Het |
| Lrrc19 |
T |
C |
4: 94,638,349 (GRCm38) |
I324V |
probably benign |
Het |
| Lrrcc1 |
G |
T |
3: 14,562,285 (GRCm38) |
Q458H |
probably damaging |
Het |
| Maml3 |
A |
T |
3: 51,689,875 (GRCm38) |
D483E |
probably damaging |
Het |
| Mef2c |
T |
A |
13: 83,662,629 (GRCm38) |
*467R |
probably null |
Het |
| Mms19 |
T |
A |
19: 41,944,558 (GRCm38) |
S1031C |
probably damaging |
Het |
| Myt1l |
T |
C |
12: 29,919,926 (GRCm38) |
I143T |
possibly damaging |
Het |
| Nuggc |
T |
C |
14: 65,623,230 (GRCm38) |
Y426H |
probably damaging |
Het |
| Oit3 |
A |
T |
10: 59,424,082 (GRCm38) |
C500S |
probably damaging |
Het |
| Olfr464 |
T |
A |
11: 87,914,190 (GRCm38) |
T239S |
probably damaging |
Het |
| Olfr470 |
T |
C |
7: 107,845,428 (GRCm38) |
I102V |
probably benign |
Het |
| Olfr491 |
A |
T |
7: 108,317,752 (GRCm38) |
N286I |
probably damaging |
Het |
| Olfr566 |
A |
G |
7: 102,856,979 (GRCm38) |
I101T |
probably damaging |
Het |
| Oog2 |
T |
C |
4: 144,196,451 (GRCm38) |
S429P |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,437,206 (GRCm38) |
D93G |
probably benign |
Het |
| Pdia5 |
A |
T |
16: 35,456,513 (GRCm38) |
M95K |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,770,252 (GRCm38) |
R762* |
probably null |
Het |
| Piezo1 |
G |
T |
8: 122,498,206 (GRCm38) |
Q654K |
probably damaging |
Het |
| Ppil3 |
A |
G |
1: 58,431,269 (GRCm38) |
Y141H |
probably benign |
Het |
| Rassf8 |
G |
T |
6: 145,815,540 (GRCm38) |
K197N |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,737,753 (GRCm38) |
Q1894R |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,910,502 (GRCm38) |
N487Y |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,539,538 (GRCm38) |
Y307C |
probably damaging |
Het |
| Sdad1 |
C |
T |
5: 92,304,977 (GRCm38) |
R134Q |
possibly damaging |
Het |
| Shroom1 |
C |
T |
11: 53,465,233 (GRCm38) |
S370F |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,716,326 (GRCm38) |
V313A |
probably benign |
Het |
| Slc2a9 |
C |
A |
5: 38,382,099 (GRCm38) |
G353C |
probably damaging |
Het |
| Snx33 |
T |
A |
9: 56,925,901 (GRCm38) |
T295S |
possibly damaging |
Het |
| Spata31d1b |
G |
A |
13: 59,718,358 (GRCm38) |
V1107M |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,224,683 (GRCm38) |
D761G |
probably benign |
Het |
| Tfeb |
T |
C |
17: 47,785,862 (GRCm38) |
V18A |
probably benign |
Het |
| Thap12 |
G |
T |
7: 98,715,954 (GRCm38) |
C443F |
probably damaging |
Het |
| Thap12 |
T |
A |
7: 98,715,955 (GRCm38) |
C443* |
probably null |
Het |
| Tmem67 |
T |
C |
4: 12,063,158 (GRCm38) |
D496G |
probably benign |
Het |
| Trappc8 |
G |
A |
18: 20,841,572 (GRCm38) |
R900* |
probably null |
Het |
| Trim9 |
T |
C |
12: 70,248,273 (GRCm38) |
N688D |
probably damaging |
Het |
| Trmt1l |
A |
T |
1: 151,442,637 (GRCm38) |
I80L |
probably benign |
Het |
| Trpm5 |
C |
A |
7: 143,082,785 (GRCm38) |
V472L |
probably benign |
Het |
| Tspear |
C |
T |
10: 77,864,695 (GRCm38) |
L120F |
probably damaging |
Het |
| Ttc9b |
G |
A |
7: 27,656,018 (GRCm38) |
V238M |
probably benign |
Het |
| Usp20 |
A |
G |
2: 31,019,824 (GRCm38) |
I819V |
probably benign |
Het |
| Vmn2r102 |
T |
A |
17: 19,677,533 (GRCm38) |
V270E |
probably damaging |
Het |
| Vmn2r63 |
C |
T |
7: 42,928,120 (GRCm38) |
M331I |
probably benign |
Het |
| Zc3h18 |
A |
T |
8: 122,383,643 (GRCm38) |
D77V |
probably damaging |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 105,483,744 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Arap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00515:Arap3
|
APN |
18 |
37,975,926 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01145:Arap3
|
APN |
18 |
37,989,179 (GRCm38) |
missense |
probably benign |
|
|
IGL01154:Arap3
|
APN |
18 |
37,996,734 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL01305:Arap3
|
APN |
18 |
37,991,327 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01542:Arap3
|
APN |
18 |
37,990,836 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01543:Arap3
|
APN |
18 |
37,990,836 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01544:Arap3
|
APN |
18 |
37,990,836 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01545:Arap3
|
APN |
18 |
37,990,836 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01677:Arap3
|
APN |
18 |
37,996,647 (GRCm38) |
missense |
probably benign |
|
|
IGL01925:Arap3
|
APN |
18 |
37,984,246 (GRCm38) |
missense |
probably benign |
0.21 |
|
IGL01933:Arap3
|
APN |
18 |
37,978,453 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
IGL02048:Arap3
|
APN |
18 |
37,996,979 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
IGL02064:Arap3
|
APN |
18 |
37,991,701 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02207:Arap3
|
APN |
18 |
37,987,853 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02376:Arap3
|
APN |
18 |
37,978,453 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02531:Arap3
|
APN |
18 |
37,989,751 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02568:Arap3
|
APN |
18 |
37,996,658 (GRCm38) |
missense |
probably benign |
0.32 |
|
IGL02640:Arap3
|
APN |
18 |
37,987,802 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL02658:Arap3
|
APN |
18 |
37,990,994 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL03090:Arap3
|
APN |
18 |
37,989,112 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03352:Arap3
|
APN |
18 |
37,981,302 (GRCm38) |
splice site |
probably benign |
|
|
ANU22:Arap3
|
UTSW |
18 |
37,991,327 (GRCm38) |
critical splice donor site |
probably null |
|
|
P0016:Arap3
|
UTSW |
18 |
37,984,348 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4260001:Arap3
|
UTSW |
18 |
37,996,895 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0066:Arap3
|
UTSW |
18 |
37,996,707 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0324:Arap3
|
UTSW |
18 |
37,973,225 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0562:Arap3
|
UTSW |
18 |
37,975,540 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1289:Arap3
|
UTSW |
18 |
37,981,973 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1346:Arap3
|
UTSW |
18 |
37,975,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1419:Arap3
|
UTSW |
18 |
37,978,432 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R1470:Arap3
|
UTSW |
18 |
37,989,196 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1470:Arap3
|
UTSW |
18 |
37,989,196 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1537:Arap3
|
UTSW |
18 |
37,989,684 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1644:Arap3
|
UTSW |
18 |
37,984,245 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1731:Arap3
|
UTSW |
18 |
37,989,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1758:Arap3
|
UTSW |
18 |
37,989,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1843:Arap3
|
UTSW |
18 |
37,975,583 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1907:Arap3
|
UTSW |
18 |
37,996,671 (GRCm38) |
missense |
probably benign |
0.28 |
|
R1954:Arap3
|
UTSW |
18 |
37,982,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2124:Arap3
|
UTSW |
18 |
37,973,350 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2135:Arap3
|
UTSW |
18 |
37,974,456 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2172:Arap3
|
UTSW |
18 |
37,990,560 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2418:Arap3
|
UTSW |
18 |
37,989,944 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2419:Arap3
|
UTSW |
18 |
37,989,944 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2907:Arap3
|
UTSW |
18 |
37,990,527 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4425:Arap3
|
UTSW |
18 |
37,978,600 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4669:Arap3
|
UTSW |
18 |
37,996,254 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4815:Arap3
|
UTSW |
18 |
37,973,243 (GRCm38) |
missense |
probably benign |
|
|
R5328:Arap3
|
UTSW |
18 |
37,991,687 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5350:Arap3
|
UTSW |
18 |
37,982,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5466:Arap3
|
UTSW |
18 |
37,996,736 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5482:Arap3
|
UTSW |
18 |
37,974,674 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5572:Arap3
|
UTSW |
18 |
37,991,066 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5779:Arap3
|
UTSW |
18 |
37,984,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6053:Arap3
|
UTSW |
18 |
37,990,771 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6144:Arap3
|
UTSW |
18 |
37,985,433 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6166:Arap3
|
UTSW |
18 |
37,974,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6248:Arap3
|
UTSW |
18 |
37,991,354 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6266:Arap3
|
UTSW |
18 |
37,990,791 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6385:Arap3
|
UTSW |
18 |
37,997,031 (GRCm38) |
nonsense |
probably null |
|
|
R6694:Arap3
|
UTSW |
18 |
37,991,537 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6856:Arap3
|
UTSW |
18 |
37,979,863 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7073:Arap3
|
UTSW |
18 |
37,974,442 (GRCm38) |
nonsense |
probably null |
|
|
R7297:Arap3
|
UTSW |
18 |
37,973,563 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7352:Arap3
|
UTSW |
18 |
37,973,278 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7652:Arap3
|
UTSW |
18 |
37,978,452 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7726:Arap3
|
UTSW |
18 |
37,989,467 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7747:Arap3
|
UTSW |
18 |
37,988,888 (GRCm38) |
splice site |
probably null |
|
|
R7944:Arap3
|
UTSW |
18 |
37,989,179 (GRCm38) |
missense |
probably benign |
|
|
R8152:Arap3
|
UTSW |
18 |
37,991,357 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R8338:Arap3
|
UTSW |
18 |
37,973,630 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8549:Arap3
|
UTSW |
18 |
37,973,312 (GRCm38) |
missense |
probably benign |
0.17 |
|
R8793:Arap3
|
UTSW |
18 |
37,974,439 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8876:Arap3
|
UTSW |
18 |
37,997,024 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R9142:Arap3
|
UTSW |
18 |
37,979,881 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R9237:Arap3
|
UTSW |
18 |
37,979,881 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R9583:Arap3
|
UTSW |
18 |
37,976,043 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9696:Arap3
|
UTSW |
18 |
37,979,852 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0011:Arap3
|
UTSW |
18 |
37,974,101 (GRCm38) |
critical splice donor site |
probably null |
|
|
X0026:Arap3
|
UTSW |
18 |
37,985,311 (GRCm38) |
critical splice donor site |
probably null |
|
|
X0027:Arap3
|
UTSW |
18 |
37,973,485 (GRCm38) |
splice site |
probably null |
|
|
X0066:Arap3
|
UTSW |
18 |
37,991,646 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCACTGAGGGCATGAATG -3'
(R):5'- ACTCCAGATAGTTCTCAGGCG -3'
Sequencing Primer
(F):5'- GAATGCTCAATGTGTATTTGATGAG -3'
(R):5'- AGGCGACTGTCCCAACC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation