Incidental Mutation 'R0562:Arap3'
| ID |
45987 |
| 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 |
038753-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.813)
|
| Stock # |
R0562 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
38105681-38132022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 38108593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 1279
(R1279L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042944]
|
| AlphaFold |
Q8R5G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042944
AA Change: R1279L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: R1279L
| 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: ENSMUST00000184293
|
| Meta Mutation Damage Score |
0.4287 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
100% (77/77) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
C |
T |
7: 131,027,518 (GRCm39) |
Q63* |
probably null |
Het |
| Adam26b |
A |
T |
8: 43,973,408 (GRCm39) |
N531K |
probably benign |
Het |
| Agt |
A |
G |
8: 125,286,014 (GRCm39) |
I356T |
probably benign |
Het |
| Ankmy1 |
A |
T |
1: 92,827,413 (GRCm39) |
|
probably benign |
Het |
| Anxa3 |
C |
T |
5: 96,960,743 (GRCm39) |
S49L |
possibly damaging |
Het |
| Azin1 |
A |
G |
15: 38,493,825 (GRCm39) |
I266T |
probably benign |
Het |
| Btnl7-ps |
T |
C |
17: 34,752,498 (GRCm39) |
|
noncoding transcript |
Het |
| Car5a |
T |
A |
8: 122,671,469 (GRCm39) |
T22S |
probably benign |
Het |
| Card6 |
A |
G |
15: 5,134,648 (GRCm39) |
I185T |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,552,437 (GRCm39) |
D11G |
probably benign |
Het |
| Cep170b |
T |
C |
12: 112,705,623 (GRCm39) |
V1127A |
probably benign |
Het |
| Ces1h |
T |
C |
8: 94,083,771 (GRCm39) |
I390M |
unknown |
Het |
| Col9a1 |
T |
A |
1: 24,218,360 (GRCm39) |
|
probably null |
Het |
| Cwc27 |
C |
A |
13: 104,797,865 (GRCm39) |
E365* |
probably null |
Het |
| Cyb561a3 |
T |
C |
19: 10,564,074 (GRCm39) |
V138A |
probably benign |
Het |
| Dcaf1 |
T |
C |
9: 106,721,321 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,963,726 (GRCm39) |
Y2516H |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,174,594 (GRCm39) |
N521Y |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,267,062 (GRCm39) |
E4835K |
probably damaging |
Het |
| Duox2 |
T |
C |
2: 122,120,080 (GRCm39) |
E810G |
probably damaging |
Het |
| Dusp15 |
T |
C |
2: 152,793,268 (GRCm39) |
N3S |
possibly damaging |
Het |
| Eif1ad9 |
A |
G |
12: 88,296,436 (GRCm39) |
D138G |
unknown |
Het |
| Epha4 |
T |
C |
1: 77,365,124 (GRCm39) |
K625R |
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,862,115 (GRCm39) |
V2394I |
probably benign |
Het |
| Gata5 |
C |
T |
2: 179,969,552 (GRCm39) |
|
probably null |
Het |
| Grm5 |
A |
G |
7: 87,252,227 (GRCm39) |
N159S |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,953,751 (GRCm39) |
M689K |
probably benign |
Het |
| Ift56 |
T |
A |
6: 38,378,064 (GRCm39) |
V292E |
probably damaging |
Het |
| Ilvbl |
G |
T |
10: 78,419,321 (GRCm39) |
G499C |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,494,780 (GRCm39) |
I65T |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 45,055,835 (GRCm39) |
V208A |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,641,070 (GRCm39) |
M460V |
possibly damaging |
Het |
| Klhl22 |
A |
G |
16: 17,610,488 (GRCm39) |
N580D |
probably benign |
Het |
| Klk15 |
T |
A |
7: 43,588,269 (GRCm39) |
C192* |
probably null |
Het |
| Klk1b9 |
A |
G |
7: 43,445,090 (GRCm39) |
E194G |
probably damaging |
Het |
| Lama1 |
G |
T |
17: 68,122,954 (GRCm39) |
G2779V |
probably damaging |
Het |
| Lmln |
C |
T |
16: 32,937,455 (GRCm39) |
R607* |
probably null |
Het |
| Maea |
T |
C |
5: 33,529,645 (GRCm39) |
V377A |
probably benign |
Het |
| Matk |
A |
T |
10: 81,095,525 (GRCm39) |
Y115F |
probably benign |
Het |
| Mettl18 |
A |
G |
1: 163,824,062 (GRCm39) |
K128E |
probably benign |
Het |
| Mrps22 |
T |
C |
9: 98,474,746 (GRCm39) |
H246R |
probably benign |
Het |
| Msln |
A |
T |
17: 25,971,980 (GRCm39) |
M79K |
probably benign |
Het |
| Myf6 |
G |
A |
10: 107,330,420 (GRCm39) |
P49L |
probably benign |
Het |
| Nat1 |
C |
T |
8: 67,943,963 (GRCm39) |
T113I |
possibly damaging |
Het |
| Ncor2 |
C |
T |
5: 125,162,093 (GRCm39) |
V394M |
unknown |
Het |
| Oas1c |
T |
C |
5: 120,943,669 (GRCm39) |
|
probably benign |
Het |
| Or8k21 |
T |
A |
2: 86,144,869 (GRCm39) |
T254S |
probably benign |
Het |
| Otp |
A |
T |
13: 95,013,917 (GRCm39) |
T112S |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,877,405 (GRCm39) |
N320S |
probably damaging |
Het |
| Pdzd2 |
G |
T |
15: 12,592,364 (GRCm39) |
F93L |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,481,453 (GRCm39) |
E283G |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,029,421 (GRCm39) |
F342S |
probably damaging |
Het |
| Pp2d1 |
T |
A |
17: 53,846,196 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,664,291 (GRCm39) |
|
probably null |
Het |
| Reg3g |
A |
T |
6: 78,444,471 (GRCm39) |
H107Q |
possibly damaging |
Het |
| Rgl1 |
T |
C |
1: 152,415,696 (GRCm39) |
K408E |
probably damaging |
Het |
| Samd4 |
T |
C |
14: 47,314,966 (GRCm39) |
C309R |
probably damaging |
Het |
| Sestd1 |
C |
A |
2: 77,061,066 (GRCm39) |
W104L |
probably benign |
Het |
| Sfmbt1 |
T |
A |
14: 30,533,330 (GRCm39) |
|
probably null |
Het |
| Slc22a21 |
T |
A |
11: 53,870,446 (GRCm39) |
K80* |
probably null |
Het |
| Snx20 |
T |
A |
8: 89,356,630 (GRCm39) |
Q62L |
probably benign |
Het |
| Spef1l |
T |
C |
7: 139,557,026 (GRCm39) |
M120V |
probably benign |
Het |
| Stk40 |
C |
A |
4: 126,032,594 (GRCm39) |
|
probably benign |
Het |
| Taf2 |
A |
T |
15: 54,885,584 (GRCm39) |
|
probably benign |
Het |
| Tcf23 |
C |
T |
5: 31,127,654 (GRCm39) |
P152L |
probably damaging |
Het |
| Tex29 |
T |
C |
8: 11,894,138 (GRCm39) |
|
probably benign |
Het |
| Tjp3 |
A |
G |
10: 81,116,389 (GRCm39) |
V235A |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,443,262 (GRCm39) |
I367N |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,543,255 (GRCm39) |
M33244L |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,089,044 (GRCm39) |
N333I |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,382,406 (GRCm39) |
|
probably benign |
Het |
| Vmn1r204 |
A |
C |
13: 22,740,848 (GRCm39) |
S160R |
probably benign |
Het |
| Vmn2r75 |
C |
T |
7: 85,797,449 (GRCm39) |
W788* |
probably null |
Het |
| Vwa5b1 |
T |
C |
4: 138,363,022 (GRCm39) |
|
probably benign |
Het |
| Zbtb7a |
A |
G |
10: 80,984,163 (GRCm39) |
E535G |
probably benign |
Het |
| Zfp1004 |
T |
A |
2: 150,034,494 (GRCm39) |
C303S |
probably damaging |
Het |
| Zranb3 |
T |
C |
1: 127,964,295 (GRCm39) |
D144G |
probably benign |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCACAGATGGTCAGCCAGATG -3'
(R):5'- GGAGCCATAACTTTACCAACCCCTG -3'
Sequencing Primer
(F):5'- TGGTCAGCCAGATGGACAG -3'
(R):5'- ACCAATCTCATTGCTTCACTGG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation