Incidental Mutation 'R7726:Arap3'
| ID |
595527 |
| 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 |
045782-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.813)
|
| Stock # |
R7726 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
38105681-38132022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 38122520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 579
(D579N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042944]
|
| AlphaFold |
Q8R5G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042944
AA Change: D579N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: D579N
| 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: 98.8%
|
| Validation Efficiency |
100% (65/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
G |
8: 44,104,208 (GRCm39) |
N479T |
probably damaging |
Het |
| Add3 |
C |
G |
19: 53,227,892 (GRCm39) |
L526V |
probably damaging |
Het |
| Alas1 |
T |
C |
9: 106,124,150 (GRCm39) |
T3A |
probably benign |
Het |
| Armc6 |
C |
A |
8: 70,675,248 (GRCm39) |
D326Y |
probably damaging |
Het |
| Atp6v1e2 |
G |
A |
17: 87,251,813 (GRCm39) |
T195I |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,690,504 (GRCm39) |
E904G |
probably damaging |
Het |
| Bhlhe40 |
T |
A |
6: 108,639,559 (GRCm39) |
D112E |
probably benign |
Het |
| Brf1 |
T |
G |
12: 112,927,865 (GRCm39) |
K438T |
probably benign |
Het |
| Cabs1 |
A |
T |
5: 88,128,145 (GRCm39) |
E265D |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,429,071 (GRCm39) |
M1937L |
probably benign |
Het |
| Cd55b |
A |
T |
1: 130,339,230 (GRCm39) |
S299R |
possibly damaging |
Het |
| Chordc1 |
A |
G |
9: 18,213,510 (GRCm39) |
*120W |
probably null |
Het |
| Col17a1 |
C |
A |
19: 47,643,629 (GRCm39) |
|
probably null |
Het |
| Cpne8 |
A |
T |
15: 90,385,621 (GRCm39) |
I469K |
possibly damaging |
Het |
| Crtac1 |
G |
T |
19: 42,290,690 (GRCm39) |
S337* |
probably null |
Het |
| Cx3cl1 |
T |
C |
8: 95,506,867 (GRCm39) |
S291P |
probably damaging |
Het |
| Dhx36 |
G |
T |
3: 62,396,389 (GRCm39) |
Q423K |
probably benign |
Het |
| Eif3h |
G |
T |
15: 51,650,219 (GRCm39) |
Q322K |
possibly damaging |
Het |
| Ero1b |
A |
G |
13: 12,620,722 (GRCm39) |
*494W |
probably null |
Het |
| Exph5 |
G |
A |
9: 53,284,475 (GRCm39) |
V519I |
possibly damaging |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Fam222b |
A |
G |
11: 78,044,577 (GRCm39) |
D46G |
probably damaging |
Het |
| Fbxl6 |
C |
A |
15: 76,420,086 (GRCm39) |
R509L |
probably damaging |
Het |
| Fgf14 |
T |
C |
14: 124,373,656 (GRCm39) |
Y86C |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,860,310 (GRCm39) |
I2119F |
probably benign |
Het |
| Gpr37 |
G |
A |
6: 25,669,116 (GRCm39) |
T576I |
possibly damaging |
Het |
| Hnrnpul2 |
G |
T |
19: 8,808,644 (GRCm39) |
R702L |
possibly damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,407,204 (GRCm39) |
N342S |
probably benign |
Het |
| Kcnh6 |
T |
C |
11: 105,908,401 (GRCm39) |
V339A |
probably benign |
Het |
| Klk1b9 |
A |
T |
7: 43,627,840 (GRCm39) |
N46I |
possibly damaging |
Het |
| Kndc1 |
C |
A |
7: 139,519,751 (GRCm39) |
S1703R |
possibly damaging |
Het |
| Lyn |
C |
A |
4: 3,756,428 (GRCm39) |
Y306* |
probably null |
Het |
| Manba |
C |
T |
3: 135,223,770 (GRCm39) |
T219M |
probably benign |
Het |
| Mastl |
T |
C |
2: 23,030,807 (GRCm39) |
|
probably null |
Het |
| Med15 |
T |
G |
16: 17,473,038 (GRCm39) |
M550L |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,312 (GRCm39) |
|
probably null |
Het |
| Msh4 |
C |
T |
3: 153,571,957 (GRCm39) |
|
probably null |
Het |
| Myh6 |
G |
T |
14: 55,202,822 (GRCm39) |
D32E |
probably damaging |
Het |
| Ntmt2 |
A |
G |
1: 163,530,753 (GRCm39) |
C229R |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,569,544 (GRCm39) |
D419G |
possibly damaging |
Het |
| Nup155 |
C |
T |
15: 8,151,623 (GRCm39) |
P393S |
probably damaging |
Het |
| Or2y1d |
T |
A |
11: 49,321,727 (GRCm39) |
C141* |
probably null |
Het |
| Or6b2b |
A |
T |
1: 92,419,029 (GRCm39) |
F149L |
probably benign |
Het |
| Pakap |
C |
T |
4: 57,709,876 (GRCm39) |
P274S |
probably damaging |
Het |
| Papss2 |
A |
T |
19: 32,611,403 (GRCm39) |
|
probably null |
Het |
| Pcdhgc3 |
T |
C |
18: 37,939,932 (GRCm39) |
V111A |
possibly damaging |
Het |
| Pcnx2 |
C |
T |
8: 126,577,069 (GRCm39) |
V988I |
probably benign |
Het |
| Pom121 |
C |
T |
5: 135,407,002 (GRCm39) |
G1178S |
probably damaging |
Het |
| Prss33 |
A |
G |
17: 24,053,203 (GRCm39) |
C213R |
probably damaging |
Het |
| Scap |
G |
A |
9: 110,207,435 (GRCm39) |
|
probably null |
Het |
| Shfl |
T |
C |
9: 20,784,461 (GRCm39) |
Y182H |
possibly damaging |
Het |
| Sirpb1c |
T |
A |
3: 15,902,550 (GRCm39) |
I10F |
possibly damaging |
Het |
| Slc28a2b |
A |
G |
2: 122,317,214 (GRCm39) |
E25G |
probably damaging |
Het |
| Spata31e2 |
C |
A |
1: 26,723,579 (GRCm39) |
A534S |
probably benign |
Het |
| Spink5 |
T |
C |
18: 44,096,419 (GRCm39) |
L16P |
probably damaging |
Het |
| Sting1 |
C |
T |
18: 35,868,318 (GRCm39) |
A261T |
probably damaging |
Het |
| Stk4 |
T |
G |
2: 163,952,146 (GRCm39) |
M1R |
probably null |
Het |
| Stub1 |
A |
T |
17: 26,050,106 (GRCm39) |
Y253* |
probably null |
Het |
| Tasor |
C |
A |
14: 27,169,454 (GRCm39) |
N338K |
probably damaging |
Het |
| Tbce |
A |
G |
13: 14,203,875 (GRCm39) |
V29A |
probably damaging |
Het |
| Tchhl1 |
A |
G |
3: 93,379,065 (GRCm39) |
R590G |
probably benign |
Het |
| Ubr4 |
C |
T |
4: 139,186,231 (GRCm39) |
P613L |
unknown |
Het |
| Vmn2r3 |
G |
T |
3: 64,182,939 (GRCm39) |
C253* |
probably null |
Het |
| Wfdc8 |
C |
A |
2: 164,441,906 (GRCm39) |
E215D |
possibly damaging |
Het |
| Zfp874b |
T |
C |
13: 67,621,975 (GRCm39) |
D441G |
probably benign |
Het |
| Zscan4d |
G |
T |
7: 10,899,169 (GRCm39) |
P36Q |
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 |
|
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'- CAAGAGCTCTTCCAGGAACAG -3'
(R):5'- AAAATAGACTCTGGGTCCAGC -3'
Sequencing Primer
(F):5'- CAAATGTAGCCTTTATCACCCATG -3'
(R):5'- ACTCTGGGTCCAGCTTGGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation