Incidental Mutation 'R5779:Arap3'
| ID |
446904 |
| 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 |
043377-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.813)
|
| Stock # |
R5779 (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 38117418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 886
(D886G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042944]
|
| AlphaFold |
Q8R5G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042944
AA Change: D886G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: D886G
| 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 |
|
| Meta Mutation Damage Score |
0.8164 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
88% (52/59) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,075,496 (GRCm39) |
M1332V |
probably benign |
Het |
| Acsbg3 |
A |
T |
17: 57,188,061 (GRCm39) |
N190Y |
probably benign |
Het |
| Afg3l2 |
T |
C |
18: 67,573,513 (GRCm39) |
K132R |
probably null |
Het |
| Antkmt |
A |
G |
17: 26,009,631 (GRCm39) |
V194A |
probably benign |
Het |
| B3gntl1 |
G |
T |
11: 121,542,502 (GRCm39) |
|
probably null |
Het |
| Cdk12 |
T |
A |
11: 98,109,900 (GRCm39) |
S640R |
probably benign |
Het |
| Ceacam12 |
C |
A |
7: 17,803,079 (GRCm39) |
P162T |
probably benign |
Het |
| Chrna5 |
C |
A |
9: 54,905,388 (GRCm39) |
H67N |
probably benign |
Het |
| Copb1 |
T |
A |
7: 113,818,807 (GRCm39) |
D837V |
probably damaging |
Het |
| Dcaf5 |
C |
T |
12: 80,385,606 (GRCm39) |
R840H |
probably benign |
Het |
| Ect2l |
T |
A |
10: 18,039,186 (GRCm39) |
Q324L |
probably benign |
Het |
| Eef1e1 |
T |
C |
13: 38,830,249 (GRCm39) |
N141S |
probably damaging |
Het |
| Eif2ak4 |
A |
C |
2: 118,243,444 (GRCm39) |
N208T |
possibly damaging |
Het |
| Ext1 |
A |
G |
15: 53,207,949 (GRCm39) |
Y271H |
probably damaging |
Het |
| Fbxo5 |
G |
A |
10: 5,750,303 (GRCm39) |
R323C |
possibly damaging |
Het |
| Fpr-rs3 |
C |
A |
17: 20,844,488 (GRCm39) |
A218S |
possibly damaging |
Het |
| Gm20499 |
G |
A |
5: 114,955,082 (GRCm39) |
|
probably benign |
Het |
| Gm57859 |
A |
G |
11: 113,578,818 (GRCm39) |
D71G |
probably benign |
Het |
| Gucy1b2 |
C |
A |
14: 62,651,750 (GRCm39) |
L400F |
possibly damaging |
Het |
| Hgd |
T |
A |
16: 37,413,733 (GRCm39) |
L24H |
probably benign |
Het |
| Hmx3 |
C |
A |
7: 131,146,057 (GRCm39) |
S255* |
probably null |
Het |
| Ifrd1 |
A |
T |
12: 40,253,369 (GRCm39) |
F448I |
probably damaging |
Het |
| Igfn1 |
T |
A |
1: 135,894,578 (GRCm39) |
E1996V |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,329,104 (GRCm39) |
G173R |
probably damaging |
Het |
| Kbtbd8 |
T |
C |
6: 95,095,515 (GRCm39) |
S26P |
probably benign |
Het |
| Kctd17 |
A |
T |
15: 78,321,333 (GRCm39) |
|
probably benign |
Het |
| Matr3 |
T |
C |
18: 35,717,575 (GRCm39) |
S258P |
possibly damaging |
Het |
| Mpp4 |
G |
A |
1: 59,190,825 (GRCm39) |
A90V |
probably benign |
Het |
| Mrpl20 |
G |
A |
4: 155,891,378 (GRCm39) |
R34Q |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,135,313 (GRCm39) |
S3266T |
probably damaging |
Het |
| Nipal3 |
A |
G |
4: 135,179,650 (GRCm39) |
|
probably benign |
Het |
| Npas2 |
A |
T |
1: 39,326,652 (GRCm39) |
T46S |
possibly damaging |
Het |
| Nsd3 |
G |
T |
8: 26,172,685 (GRCm39) |
E815* |
probably null |
Het |
| Nup98 |
C |
A |
7: 101,801,568 (GRCm39) |
V786L |
probably benign |
Het |
| Or4k2 |
A |
T |
14: 50,424,203 (GRCm39) |
M157K |
possibly damaging |
Het |
| Pcdhb3 |
T |
C |
18: 37,434,520 (GRCm39) |
V162A |
probably benign |
Het |
| Pcgf2 |
G |
A |
11: 97,581,117 (GRCm39) |
P58L |
probably damaging |
Het |
| Penk |
A |
G |
4: 4,134,318 (GRCm39) |
F110L |
probably damaging |
Het |
| Relch |
T |
G |
1: 105,615,072 (GRCm39) |
N246K |
probably damaging |
Het |
| Scfd1 |
A |
G |
12: 51,478,312 (GRCm39) |
N508S |
probably benign |
Het |
| Scn2a |
T |
C |
2: 65,594,827 (GRCm39) |
V1892A |
probably benign |
Het |
| Sema6a |
G |
A |
18: 47,381,893 (GRCm39) |
R885C |
probably damaging |
Het |
| Sik2 |
T |
C |
9: 50,807,145 (GRCm39) |
H755R |
probably benign |
Het |
| Slc36a3 |
A |
T |
11: 55,026,094 (GRCm39) |
Y241* |
probably null |
Het |
| Smg5 |
T |
C |
3: 88,258,925 (GRCm39) |
|
probably benign |
Het |
| Spag9 |
A |
G |
11: 94,005,079 (GRCm39) |
T1049A |
probably benign |
Het |
| Tas2r103 |
T |
C |
6: 133,013,908 (GRCm39) |
M53V |
probably benign |
Het |
| Tpr |
C |
T |
1: 150,299,292 (GRCm39) |
A1090V |
probably damaging |
Het |
| Traf5 |
T |
A |
1: 191,729,633 (GRCm39) |
R473W |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,175,707 (GRCm39) |
|
probably null |
Het |
| Vit |
A |
G |
17: 78,853,855 (GRCm39) |
T34A |
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 |
|
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 |
|
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'- CCTCCAACTAGCTCAGTGTC -3'
(R):5'- ACAGGAAGGTAATGTTCTGTACC -3'
Sequencing Primer
(F):5'- CAACTAGCTCAGTGTCAATCTGTG -3'
(R):5'- AAGGTAATGTTCTGTACCTGTGACTC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation