Incidental Mutation 'R9696:Arap3'
ID |
729338 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.813)
|
Stock # |
R9696 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
38105681-38132022 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 38112905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1102
(T1102A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035662
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042944]
|
AlphaFold |
Q8R5G7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042944
AA Change: T1102A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000035662 Gene: ENSMUSG00000024451 AA Change: T1102A
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
T |
C |
2: 30,691,256 (GRCm39) |
D105G |
possibly damaging |
Het |
4930407I10Rik |
A |
G |
15: 81,949,697 (GRCm39) |
N1198S |
probably benign |
Het |
Abca14 |
A |
T |
7: 119,888,734 (GRCm39) |
I1227F |
possibly damaging |
Het |
Abhd10 |
T |
C |
16: 45,552,042 (GRCm39) |
D277G |
probably damaging |
Het |
Adam20 |
A |
G |
8: 41,249,633 (GRCm39) |
N581S |
probably damaging |
Het |
Apbb1ip |
A |
T |
2: 22,725,989 (GRCm39) |
T254S |
probably benign |
Het |
Asb16 |
A |
T |
11: 102,159,766 (GRCm39) |
R40W |
probably damaging |
Het |
Birc6 |
T |
A |
17: 74,947,292 (GRCm39) |
S3019T |
probably damaging |
Het |
Btbd18 |
T |
A |
2: 84,497,854 (GRCm39) |
C497* |
probably null |
Het |
Cacna1h |
T |
C |
17: 25,602,215 (GRCm39) |
M1542V |
possibly damaging |
Het |
Ccdc8 |
T |
G |
7: 16,730,087 (GRCm39) |
S525R |
unknown |
Het |
Ch25h |
G |
A |
19: 34,451,947 (GRCm39) |
R194W |
probably damaging |
Het |
Ciapin1 |
C |
A |
8: 95,555,065 (GRCm39) |
L130F |
probably damaging |
Het |
Cnfn |
G |
T |
7: 25,067,515 (GRCm39) |
T54N |
probably damaging |
Het |
Cop1 |
A |
T |
1: 159,076,783 (GRCm39) |
I195F |
probably damaging |
Het |
Daam1 |
A |
G |
12: 71,991,147 (GRCm39) |
R254G |
unknown |
Het |
Dcaf13 |
T |
C |
15: 39,001,496 (GRCm39) |
M268T |
possibly damaging |
Het |
Disp3 |
C |
A |
4: 148,345,611 (GRCm39) |
V410L |
probably damaging |
Het |
Dus4l |
A |
T |
12: 31,696,647 (GRCm39) |
I110K |
probably damaging |
Het |
Endov |
C |
T |
11: 119,398,048 (GRCm39) |
P271L |
probably damaging |
Het |
Epha2 |
A |
G |
4: 141,047,834 (GRCm39) |
I539V |
probably benign |
Het |
Ercc4 |
A |
T |
16: 12,950,810 (GRCm39) |
I635L |
probably damaging |
Het |
Exosc10 |
A |
G |
4: 148,649,704 (GRCm39) |
D378G |
probably damaging |
Het |
Fmnl1 |
A |
G |
11: 103,086,297 (GRCm39) |
D804G |
unknown |
Het |
Gm11983 |
T |
A |
11: 6,787,020 (GRCm39) |
I36F |
unknown |
Het |
Gm11992 |
A |
T |
11: 9,006,438 (GRCm39) |
I123L |
probably benign |
Het |
Gm19965 |
T |
C |
1: 116,730,838 (GRCm39) |
|
probably benign |
Het |
Gm19965 |
A |
G |
1: 116,749,210 (GRCm39) |
D297G |
|
Het |
Gpr180 |
G |
A |
14: 118,391,302 (GRCm39) |
G235R |
probably damaging |
Het |
Gse1 |
T |
C |
8: 120,956,280 (GRCm39) |
V257A |
unknown |
Het |
Haus1 |
A |
T |
18: 77,847,202 (GRCm39) |
S225T |
probably benign |
Het |
Hgf |
A |
G |
5: 16,777,534 (GRCm39) |
Y177C |
probably damaging |
Het |
Insig1 |
T |
C |
5: 28,279,546 (GRCm39) |
W184R |
probably damaging |
Het |
Krt5 |
A |
T |
15: 101,616,141 (GRCm39) |
S491R |
unknown |
Het |
Lcn5 |
A |
G |
2: 25,550,142 (GRCm39) |
I110V |
probably benign |
Het |
Lin9 |
A |
T |
1: 180,496,733 (GRCm39) |
S341C |
possibly damaging |
Het |
Magi2 |
C |
T |
5: 20,670,864 (GRCm39) |
H403Y |
probably benign |
Het |
Mapk1ip1l |
C |
T |
14: 47,548,340 (GRCm39) |
P163S |
probably damaging |
Het |
Mbtd1 |
A |
G |
11: 93,823,218 (GRCm39) |
D568G |
probably damaging |
Het |
Mdp1 |
A |
G |
14: 55,896,704 (GRCm39) |
V119A |
probably benign |
Het |
Me1 |
A |
G |
9: 86,469,047 (GRCm39) |
I506T |
probably damaging |
Het |
Med1 |
A |
G |
11: 98,061,772 (GRCm39) |
|
probably null |
Het |
Med25 |
T |
A |
7: 44,529,524 (GRCm39) |
Q656L |
probably benign |
Het |
Memo1 |
A |
C |
17: 74,524,041 (GRCm39) |
I213S |
probably damaging |
Het |
Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
Mpi |
T |
C |
9: 57,452,539 (GRCm39) |
D331G |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,574,712 (GRCm39) |
I1054T |
probably benign |
Het |
Nat10 |
T |
C |
2: 103,556,040 (GRCm39) |
E927G |
possibly damaging |
Het |
Nlrp9a |
T |
C |
7: 26,275,033 (GRCm39) |
L930P |
unknown |
Het |
Nt5c3b |
A |
T |
11: 100,323,811 (GRCm39) |
I167N |
probably damaging |
Het |
Ogdh |
T |
C |
11: 6,289,209 (GRCm39) |
S308P |
probably damaging |
Het |
Or2y1b |
A |
G |
11: 49,208,390 (GRCm39) |
I6V |
probably benign |
Het |
Or4c108 |
T |
G |
2: 88,803,615 (GRCm39) |
I207L |
probably benign |
Het |
Or52e5 |
T |
A |
7: 104,719,283 (GRCm39) |
V203D |
probably damaging |
Het |
Or8b9 |
G |
A |
9: 37,766,671 (GRCm39) |
E186K |
probably benign |
Het |
Parl |
A |
G |
16: 20,105,690 (GRCm39) |
V244A |
probably benign |
Het |
Parp14 |
G |
T |
16: 35,661,252 (GRCm39) |
D1565E |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,661,251 (GRCm39) |
K1566E |
possibly damaging |
Het |
Pcdhb18 |
T |
A |
18: 37,623,606 (GRCm39) |
I312K |
possibly damaging |
Het |
Pcnp |
A |
T |
16: 55,844,867 (GRCm39) |
|
probably benign |
Het |
Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
Rab10 |
T |
A |
12: 3,306,947 (GRCm39) |
M83L |
probably benign |
Het |
Rabep1 |
A |
G |
11: 70,814,029 (GRCm39) |
S616G |
probably benign |
Het |
Rnf213 |
G |
A |
11: 119,359,806 (GRCm39) |
V4400M |
|
Het |
Samd9l |
T |
A |
6: 3,375,078 (GRCm39) |
I728F |
possibly damaging |
Het |
Scaf4 |
T |
A |
16: 90,044,122 (GRCm39) |
D620V |
unknown |
Het |
Scnn1b |
A |
T |
7: 121,498,462 (GRCm39) |
M1L |
probably damaging |
Het |
Sec23b |
T |
A |
2: 144,428,343 (GRCm39) |
M652K |
probably benign |
Het |
Selenoi |
T |
C |
5: 30,453,413 (GRCm39) |
F44L |
probably benign |
Het |
Slc36a3 |
A |
T |
11: 55,026,161 (GRCm39) |
V219E |
possibly damaging |
Het |
Sncaip |
A |
T |
18: 53,038,915 (GRCm39) |
Q543L |
probably damaging |
Het |
Stmnd1 |
A |
G |
13: 46,443,224 (GRCm39) |
I119V |
probably damaging |
Het |
Strn3 |
T |
A |
12: 51,676,286 (GRCm39) |
E414D |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,297,847 (GRCm39) |
H1150L |
probably benign |
Het |
Tdrd7 |
A |
G |
4: 46,016,888 (GRCm39) |
N676S |
possibly damaging |
Het |
Tgs1 |
A |
T |
4: 3,575,071 (GRCm39) |
I16F |
possibly damaging |
Het |
Thnsl2 |
T |
G |
6: 71,108,930 (GRCm39) |
T294P |
possibly damaging |
Het |
Tmem156 |
A |
G |
5: 65,231,147 (GRCm39) |
I241T |
possibly damaging |
Het |
Unc13a |
A |
T |
8: 72,082,197 (GRCm39) |
M1689K |
possibly damaging |
Het |
Uri1 |
T |
C |
7: 37,664,738 (GRCm39) |
D318G |
probably benign |
Het |
Vmn2r86 |
T |
A |
10: 130,285,702 (GRCm39) |
Q491L |
possibly damaging |
Het |
Vps13b |
C |
A |
15: 35,675,033 (GRCm39) |
Q1718K |
possibly 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 |
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 |
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'- ACTGAGGAATCCCCATAGCG -3'
(R):5'- TGGTGACTTCCTCTCAGAGTC -3'
Sequencing Primer
(F):5'- TCCCCATAGCGGAATAAATGG -3'
(R):5'- TCAGAGTCCTGGGCTTCC -3'
|
Posted On |
2022-10-06 |