Incidental Mutation 'R2419:Arap3'
ID |
249173 |
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 |
040381-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.813)
|
Stock # |
R2419 (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 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: 94.9%
|
Validation Efficiency |
98% (57/58) |
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 |
Acyp2 |
T |
C |
11: 30,582,316 (GRCm39) |
Y33C |
probably benign |
Het |
Ampd3 |
A |
G |
7: 110,367,576 (GRCm39) |
|
probably benign |
Het |
Arl4d |
A |
T |
11: 101,557,714 (GRCm39) |
Q80L |
probably damaging |
Het |
Bcorl1 |
A |
G |
X: 47,459,418 (GRCm39) |
T425A |
probably damaging |
Het |
Ccdc38 |
T |
A |
10: 93,384,837 (GRCm39) |
V35D |
probably benign |
Het |
Cd6 |
G |
A |
19: 10,770,216 (GRCm39) |
P492S |
probably damaging |
Het |
Cdh20 |
G |
A |
1: 104,902,740 (GRCm39) |
S477N |
possibly damaging |
Het |
Cnmd |
G |
A |
14: 79,875,488 (GRCm39) |
P311S |
probably damaging |
Het |
Cnot8 |
G |
A |
11: 58,006,136 (GRCm39) |
G222R |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,986,241 (GRCm39) |
L1131* |
probably null |
Het |
Dscc1 |
G |
A |
15: 54,946,820 (GRCm39) |
R302* |
probably null |
Het |
Dusp18 |
T |
C |
11: 3,847,018 (GRCm39) |
S3P |
possibly damaging |
Het |
Eml2 |
A |
G |
7: 18,910,620 (GRCm39) |
|
probably benign |
Het |
Foxb2 |
G |
C |
19: 16,850,325 (GRCm39) |
A227G |
probably damaging |
Het |
Hey1 |
A |
G |
3: 8,731,003 (GRCm39) |
|
probably null |
Het |
Itk |
A |
G |
11: 46,229,044 (GRCm39) |
F379L |
probably damaging |
Het |
Kcna2 |
G |
A |
3: 107,011,469 (GRCm39) |
G17R |
probably benign |
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 |
Leng9 |
A |
G |
7: 4,151,626 (GRCm39) |
V350A |
probably benign |
Het |
Lmbr1l |
A |
C |
15: 98,805,418 (GRCm39) |
F361C |
possibly damaging |
Het |
Lrat |
A |
G |
3: 82,810,992 (GRCm39) |
S10P |
probably damaging |
Het |
Lrrk2 |
C |
A |
15: 91,681,729 (GRCm39) |
|
probably benign |
Het |
Mcur1 |
C |
T |
13: 43,703,013 (GRCm39) |
V241M |
possibly damaging |
Het |
Met |
T |
C |
6: 17,535,829 (GRCm39) |
|
probably benign |
Het |
Mical3 |
A |
G |
6: 120,936,884 (GRCm39) |
V342A |
probably benign |
Het |
Nup210 |
G |
A |
6: 90,994,538 (GRCm39) |
|
probably benign |
Het |
Or1i2 |
T |
A |
10: 78,448,221 (GRCm39) |
I85F |
probably benign |
Het |
Or1j12 |
T |
A |
2: 36,343,338 (GRCm39) |
V247E |
probably damaging |
Het |
Or4c107 |
A |
G |
2: 88,789,380 (GRCm39) |
N190S |
probably benign |
Het |
Pcdhac1 |
T |
C |
18: 37,224,381 (GRCm39) |
L398P |
probably benign |
Het |
Phc3 |
T |
C |
3: 31,005,027 (GRCm39) |
M189V |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,104,020 (GRCm39) |
|
probably benign |
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 |
Rbbp5 |
T |
C |
1: 132,421,564 (GRCm39) |
I88T |
possibly damaging |
Het |
Rfpl4b |
T |
C |
10: 38,697,368 (GRCm39) |
R78G |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Samt2 |
A |
T |
X: 153,358,223 (GRCm39) |
|
probably null |
Het |
Sdad1 |
T |
C |
5: 92,453,677 (GRCm39) |
H37R |
possibly damaging |
Het |
Setd2 |
T |
A |
9: 110,378,065 (GRCm39) |
F627I |
possibly damaging |
Het |
Ski |
A |
G |
4: 155,245,350 (GRCm39) |
S293P |
probably benign |
Het |
Slc27a1 |
A |
G |
8: 72,032,560 (GRCm39) |
E191G |
possibly damaging |
Het |
Snx18 |
T |
C |
13: 113,753,755 (GRCm39) |
M393V |
possibly damaging |
Het |
Spata31g1 |
A |
G |
4: 42,974,146 (GRCm39) |
T1160A |
possibly damaging |
Het |
Tacc1 |
A |
G |
8: 25,672,829 (GRCm39) |
V42A |
possibly damaging |
Het |
Tbc1d8 |
A |
G |
1: 39,415,983 (GRCm39) |
F897L |
probably damaging |
Het |
Tenm3 |
C |
T |
8: 48,729,693 (GRCm39) |
D1438N |
possibly damaging |
Het |
Tmem62 |
G |
A |
2: 120,837,586 (GRCm39) |
G501E |
probably damaging |
Het |
Tmem94 |
A |
G |
11: 115,687,641 (GRCm39) |
K1167E |
probably damaging |
Het |
Trap1 |
A |
G |
16: 3,886,194 (GRCm39) |
S88P |
probably benign |
Het |
Ugt2b38 |
T |
C |
5: 87,571,591 (GRCm39) |
D147G |
probably 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 |
Zcchc14 |
T |
A |
8: 122,330,675 (GRCm39) |
Q896L |
probably damaging |
Het |
Zfp619 |
A |
G |
7: 39,185,307 (GRCm39) |
K446E |
possibly damaging |
Het |
Zpr1 |
T |
C |
9: 46,187,490 (GRCm39) |
|
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 |
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'- TGTGCTGACCTGTTAGAACAC -3'
(R):5'- GAAGTGACTTTTATTAGCTCCGG -3'
Sequencing Primer
(F):5'- GTGCTGACCTGTTAGAACACAAAAAC -3'
(R):5'- CCGGTAGGAGTGGCCATTG -3'
|
Posted On |
2014-11-12 |