Incidental Mutation 'R5328:Arap3'
ID |
422191 |
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 |
042843-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.814)
|
Stock # |
R5328 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
38105681-38132022 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 38124740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 247
(E247K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035662
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042944]
|
AlphaFold |
Q8R5G7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042944
AA Change: E247K
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000035662 Gene: ENSMUSG00000024451 AA Change: E247K
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
A |
5: 8,887,694 (GRCm39) |
V860E |
possibly damaging |
Het |
Abcc6 |
T |
C |
7: 45,641,735 (GRCm39) |
D881G |
probably benign |
Het |
Abcc9 |
A |
G |
6: 142,627,785 (GRCm39) |
V415A |
probably benign |
Het |
Adgrb3 |
A |
C |
1: 25,133,356 (GRCm39) |
N1003K |
possibly damaging |
Het |
Adora3 |
C |
T |
3: 105,814,619 (GRCm39) |
T123I |
probably benign |
Het |
Amotl2 |
A |
C |
9: 102,600,967 (GRCm39) |
T345P |
probably benign |
Het |
Atp8b1 |
A |
T |
18: 64,664,462 (GRCm39) |
D1235E |
probably benign |
Het |
Axl |
A |
T |
7: 25,472,836 (GRCm39) |
V400E |
probably damaging |
Het |
Brd8 |
T |
A |
18: 34,741,034 (GRCm39) |
N431Y |
probably benign |
Het |
Cadps |
A |
T |
14: 12,457,790 (GRCm38) |
N1025K |
probably benign |
Het |
Cblc |
A |
T |
7: 19,526,505 (GRCm39) |
S195T |
possibly damaging |
Het |
Chd2 |
C |
T |
7: 73,113,429 (GRCm39) |
A1184T |
possibly damaging |
Het |
Chst10 |
G |
A |
1: 38,935,043 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,527,342 (GRCm39) |
K2663E |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,793,140 (GRCm39) |
I292L |
probably benign |
Het |
Cul1 |
T |
C |
6: 47,485,251 (GRCm39) |
V294A |
probably damaging |
Het |
Cyp2d11 |
G |
A |
15: 82,275,972 (GRCm39) |
P203L |
probably benign |
Het |
Dnaaf10 |
C |
A |
11: 17,172,220 (GRCm39) |
P103Q |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,474,878 (GRCm39) |
H1228R |
probably benign |
Het |
Eif3l |
A |
T |
15: 78,977,561 (GRCm39) |
K534* |
probably null |
Het |
Enpep |
T |
C |
3: 129,074,159 (GRCm39) |
E796G |
probably benign |
Het |
Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
Fam117a |
T |
A |
11: 95,254,996 (GRCm39) |
|
probably null |
Het |
Fan1 |
A |
T |
7: 64,004,217 (GRCm39) |
Y750N |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,011,017 (GRCm39) |
I2039N |
probably damaging |
Het |
Gabrr2 |
G |
T |
4: 33,082,565 (GRCm39) |
D106Y |
probably damaging |
Het |
Gak |
A |
C |
5: 108,764,867 (GRCm39) |
C145G |
possibly damaging |
Het |
Galnt14 |
A |
T |
17: 73,812,454 (GRCm39) |
N406K |
possibly damaging |
Het |
Gm10439 |
T |
G |
X: 148,419,159 (GRCm39) |
*434E |
probably null |
Het |
Gm10837 |
G |
T |
14: 122,728,190 (GRCm39) |
R22L |
unknown |
Het |
Gm19965 |
T |
A |
1: 116,749,148 (GRCm39) |
H276Q |
possibly damaging |
Het |
Gm43517 |
T |
C |
12: 49,437,939 (GRCm39) |
|
probably benign |
Het |
Greb1l |
A |
T |
18: 10,553,720 (GRCm39) |
I1574F |
probably damaging |
Het |
Gzme |
G |
A |
14: 56,355,224 (GRCm39) |
H236Y |
probably benign |
Het |
Heatr5b |
G |
A |
17: 79,133,791 (GRCm39) |
T266I |
possibly damaging |
Het |
Hk3 |
T |
C |
13: 55,161,306 (GRCm39) |
I185V |
probably benign |
Het |
Hnrnpr |
A |
G |
4: 136,066,527 (GRCm39) |
E302G |
probably benign |
Het |
Itgal |
T |
C |
7: 126,910,847 (GRCm39) |
|
probably null |
Het |
Itk |
A |
G |
11: 46,222,703 (GRCm39) |
S583P |
probably benign |
Het |
Loxhd1 |
A |
T |
18: 77,498,268 (GRCm39) |
I1448F |
probably damaging |
Het |
Macf1 |
GCCCCC |
GCCCCCC |
4: 123,244,784 (GRCm39) |
|
probably null |
Het |
Man2a2 |
A |
T |
7: 80,018,504 (GRCm39) |
F118L |
probably benign |
Het |
Mfsd5 |
T |
A |
15: 102,189,447 (GRCm39) |
V273E |
probably damaging |
Het |
Nfe2l2 |
A |
G |
2: 75,507,200 (GRCm39) |
L300P |
probably damaging |
Het |
Nt5c1a |
T |
G |
4: 123,102,786 (GRCm39) |
L122R |
possibly damaging |
Het |
Nt5c3b |
A |
G |
11: 100,331,067 (GRCm39) |
F42S |
probably damaging |
Het |
Or2av9 |
C |
A |
11: 58,381,255 (GRCm39) |
A109S |
possibly damaging |
Het |
Or51g2 |
T |
A |
7: 102,623,175 (GRCm39) |
N8I |
possibly damaging |
Het |
Pabpc1 |
A |
T |
15: 36,603,121 (GRCm39) |
D204E |
probably benign |
Het |
Panx2 |
A |
G |
15: 88,952,298 (GRCm39) |
N255S |
probably damaging |
Het |
Pcnt |
A |
G |
10: 76,247,553 (GRCm39) |
L993P |
probably damaging |
Het |
Pfas |
A |
T |
11: 68,879,418 (GRCm39) |
C1160S |
probably damaging |
Het |
Plekhh3 |
T |
A |
11: 101,058,484 (GRCm39) |
|
probably benign |
Het |
Plod3 |
T |
A |
5: 137,018,537 (GRCm39) |
N258K |
probably damaging |
Het |
Prr14l |
T |
C |
5: 32,987,365 (GRCm39) |
Q710R |
probably benign |
Het |
Rnf216 |
G |
T |
5: 143,078,754 (GRCm39) |
T65K |
possibly damaging |
Het |
Samd9l |
T |
C |
6: 3,376,739 (GRCm39) |
E174G |
probably damaging |
Het |
Septin12 |
T |
A |
16: 4,811,857 (GRCm39) |
M63L |
possibly damaging |
Het |
Sh3bgrl2 |
T |
A |
9: 83,459,509 (GRCm39) |
D22E |
probably benign |
Het |
Sirpd |
T |
C |
3: 15,397,234 (GRCm39) |
M17V |
unknown |
Het |
Skil |
A |
G |
3: 31,171,718 (GRCm39) |
K488R |
probably benign |
Het |
Slamf6 |
T |
A |
1: 171,765,662 (GRCm39) |
I262K |
probably benign |
Het |
Slc27a3 |
T |
C |
3: 90,294,139 (GRCm39) |
D470G |
probably damaging |
Het |
Sorbs3 |
A |
T |
14: 70,418,623 (GRCm39) |
V680E |
probably damaging |
Het |
Sox9 |
C |
T |
11: 112,673,484 (GRCm39) |
T25I |
probably benign |
Het |
Srsf1 |
G |
T |
11: 87,940,819 (GRCm39) |
|
probably benign |
Het |
Stard9 |
A |
C |
2: 120,529,711 (GRCm39) |
E1989D |
probably damaging |
Het |
Thumpd2 |
T |
A |
17: 81,351,591 (GRCm39) |
I277F |
possibly damaging |
Het |
Tinag |
C |
A |
9: 76,912,913 (GRCm39) |
G299* |
probably null |
Het |
Tk2 |
A |
T |
8: 104,955,931 (GRCm39) |
|
probably null |
Het |
Tmem44 |
A |
G |
16: 30,359,709 (GRCm39) |
S210P |
possibly damaging |
Het |
Traf3ip1 |
C |
A |
1: 91,447,791 (GRCm39) |
P423T |
probably damaging |
Het |
Trmt12 |
A |
G |
15: 58,744,704 (GRCm39) |
D34G |
probably damaging |
Het |
Ttc39b |
A |
G |
4: 83,180,178 (GRCm39) |
Y72H |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,708,755 (GRCm39) |
|
probably benign |
Het |
Ttyh2 |
T |
A |
11: 114,600,894 (GRCm39) |
I381N |
possibly damaging |
Het |
Uaca |
A |
T |
9: 60,777,814 (GRCm39) |
N734Y |
probably benign |
Het |
Usp34 |
T |
C |
11: 23,414,616 (GRCm39) |
I2853T |
probably benign |
Het |
Usp34 |
G |
A |
11: 23,438,659 (GRCm39) |
G3407D |
probably benign |
Het |
Vmn2r78 |
A |
G |
7: 86,570,238 (GRCm39) |
Y252C |
probably damaging |
Het |
Wdr19 |
G |
A |
5: 65,401,522 (GRCm39) |
C979Y |
probably damaging |
Het |
Yeats2 |
A |
T |
16: 19,989,955 (GRCm39) |
H277L |
probably damaging |
Het |
Zbtb2 |
T |
C |
10: 4,319,267 (GRCm39) |
Y253C |
possibly damaging |
Het |
Zfat |
C |
A |
15: 68,051,677 (GRCm39) |
G706C |
probably damaging |
Het |
Zfp106 |
A |
T |
2: 120,350,898 (GRCm39) |
N1584K |
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 |
|
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'- GGTGATCGATCATACGTCCTAG -3'
(R):5'- TGGGTTGCCAGCTTCTCTAC -3'
Sequencing Primer
(F):5'- TGATCGATCATACGTCCTAGAACCTG -3'
(R):5'- TACCCCATTTATTTACAAAGCCAAG -3'
|
Posted On |
2016-08-04 |