Incidental Mutation 'R2418:Arap3'
ID |
249110 |
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 |
040380-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.814)
|
Stock # |
R2418 (G1)
|
Quality Score |
194 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
38105681-38132022 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 38122997 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 501
(D501G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035662
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042944]
|
AlphaFold |
Q8R5G7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042944
AA Change: D501G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035662 Gene: ENSMUSG00000024451 AA Change: D501G
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
|
Meta Mutation Damage Score |
0.9539 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
G |
A |
2: 25,328,001 (GRCm39) |
A768T |
probably benign |
Het |
Acox3 |
A |
G |
5: 35,761,982 (GRCm39) |
N442S |
probably benign |
Het |
Acp5 |
C |
A |
9: 22,041,248 (GRCm39) |
V60L |
probably benign |
Het |
Bcorl1 |
A |
G |
X: 47,459,418 (GRCm39) |
T425A |
probably damaging |
Het |
Btd |
G |
A |
14: 31,363,093 (GRCm39) |
|
probably null |
Het |
Cfap251 |
A |
C |
5: 123,392,331 (GRCm39) |
|
probably benign |
Het |
Cfap74 |
T |
A |
4: 155,540,166 (GRCm39) |
|
probably benign |
Het |
Cnot8 |
G |
A |
11: 58,006,136 (GRCm39) |
G222R |
probably damaging |
Het |
Col4a4 |
G |
T |
1: 82,510,657 (GRCm39) |
A205E |
unknown |
Het |
Cwf19l1 |
T |
C |
19: 44,119,911 (GRCm39) |
T77A |
probably benign |
Het |
Cyp2b9 |
A |
G |
7: 25,886,132 (GRCm39) |
T100A |
probably benign |
Het |
Ddx24 |
A |
G |
12: 103,383,996 (GRCm39) |
L485P |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,986,241 (GRCm39) |
L1131* |
probably null |
Het |
Dnase1l3 |
T |
A |
14: 7,968,089 (GRCm38) |
E272V |
possibly damaging |
Het |
Dscc1 |
G |
A |
15: 54,946,820 (GRCm39) |
R302* |
probably null |
Het |
Elk3 |
T |
C |
10: 93,120,689 (GRCm39) |
N50S |
probably damaging |
Het |
Fmo3 |
A |
T |
1: 162,794,527 (GRCm39) |
I181K |
probably benign |
Het |
Golga3 |
T |
C |
5: 110,349,734 (GRCm39) |
I655T |
probably damaging |
Het |
Hspa1l |
A |
T |
17: 35,196,164 (GRCm39) |
T68S |
probably benign |
Het |
Itgax |
C |
T |
7: 127,741,505 (GRCm39) |
R839W |
probably damaging |
Het |
Itk |
A |
G |
11: 46,229,044 (GRCm39) |
F379L |
probably damaging |
Het |
Kif7 |
C |
A |
7: 79,348,441 (GRCm39) |
R1300L |
probably benign |
Het |
Klkb1 |
A |
T |
8: 45,742,149 (GRCm39) |
D43E |
possibly damaging |
Het |
Kmt5b |
C |
T |
19: 3,857,266 (GRCm39) |
A318V |
probably benign |
Het |
Krt78 |
T |
C |
15: 101,855,069 (GRCm39) |
Y914C |
probably benign |
Het |
Lactb2 |
T |
C |
1: 13,730,563 (GRCm39) |
T38A |
possibly damaging |
Het |
Lmbr1l |
A |
C |
15: 98,805,418 (GRCm39) |
F361C |
possibly damaging |
Het |
Magi1 |
T |
C |
6: 93,722,891 (GRCm39) |
D329G |
probably damaging |
Het |
Map3k5 |
T |
A |
10: 19,986,603 (GRCm39) |
V939E |
probably benign |
Het |
Mcm8 |
C |
T |
2: 132,666,658 (GRCm39) |
A233V |
probably benign |
Het |
Mcur1 |
C |
T |
13: 43,703,013 (GRCm39) |
V241M |
possibly damaging |
Het |
Mical2 |
G |
T |
7: 111,919,941 (GRCm39) |
|
probably null |
Het |
Nudt13 |
A |
G |
14: 20,361,581 (GRCm39) |
E219G |
probably damaging |
Het |
Or4c107 |
A |
G |
2: 88,789,380 (GRCm39) |
N190S |
probably benign |
Het |
Or52d3 |
A |
T |
7: 104,229,141 (GRCm39) |
H96L |
probably benign |
Het |
Or6b1 |
A |
G |
6: 42,814,983 (GRCm39) |
H56R |
probably benign |
Het |
Osbpl7 |
A |
C |
11: 96,950,004 (GRCm39) |
D395A |
probably benign |
Het |
Osbpl9 |
A |
G |
4: 108,923,415 (GRCm39) |
C495R |
probably damaging |
Het |
Pcdhac1 |
T |
C |
18: 37,224,381 (GRCm39) |
L398P |
probably benign |
Het |
Pcnx4 |
T |
A |
12: 72,603,037 (GRCm39) |
F433Y |
probably damaging |
Het |
Pdp1 |
G |
A |
4: 11,961,838 (GRCm39) |
P158S |
probably damaging |
Het |
Pkd1l3 |
A |
C |
8: 110,397,353 (GRCm39) |
*2152C |
probably null |
Het |
Plcxd3 |
G |
T |
15: 4,604,245 (GRCm39) |
K284N |
probably benign |
Het |
Plxnb2 |
A |
G |
15: 89,045,272 (GRCm39) |
V1058A |
possibly damaging |
Het |
Ptbp1 |
T |
C |
10: 79,695,511 (GRCm39) |
Y187H |
probably damaging |
Het |
Resp18 |
T |
C |
1: 75,248,955 (GRCm39) |
*176W |
probably null |
Het |
Rps6ka2 |
A |
C |
17: 7,566,738 (GRCm39) |
Q665H |
possibly damaging |
Het |
Rtn1 |
T |
C |
12: 72,351,052 (GRCm39) |
T386A |
probably benign |
Het |
Samt2 |
A |
T |
X: 153,358,223 (GRCm39) |
|
probably null |
Het |
Scn1a |
T |
C |
2: 66,104,187 (GRCm39) |
N1663S |
probably damaging |
Het |
Smyd1 |
A |
T |
6: 71,216,537 (GRCm39) |
I70N |
probably damaging |
Het |
Tas2r105 |
T |
C |
6: 131,664,410 (GRCm39) |
E6G |
probably damaging |
Het |
Tchh |
G |
T |
3: 93,352,936 (GRCm39) |
R792L |
unknown |
Het |
Tenm3 |
C |
T |
8: 48,729,693 (GRCm39) |
D1438N |
possibly damaging |
Het |
Tmem184b |
A |
G |
15: 79,250,143 (GRCm39) |
Y211H |
possibly damaging |
Het |
Top3a |
C |
A |
11: 60,638,842 (GRCm39) |
G551V |
possibly damaging |
Het |
Vmn1r168 |
A |
T |
7: 23,240,824 (GRCm39) |
N227I |
probably benign |
Het |
Vmn1r203 |
T |
A |
13: 22,709,004 (GRCm39) |
S262T |
possibly damaging |
Het |
Vmn1r204 |
T |
G |
13: 22,740,420 (GRCm39) |
L17R |
probably damaging |
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 |
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'- CTGTGCTGACCTGTTAGAACAC -3'
(R):5'- AGTGACTTTTATTAGCTCCGGTAG -3'
Sequencing Primer
(F):5'- GTGCTGACCTGTTAGAACACAAAAAC -3'
(R):5'- CCGGTAGGAGTGGCCATTG -3'
|
Posted On |
2014-11-12 |