Incidental Mutation 'R6053:Arap3'
| ID |
484280 |
| 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 |
044221-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.814)
|
| Stock # |
R6053 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
38105681-38132022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 38123824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 398
(L398F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042944]
|
| AlphaFold |
Q8R5G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042944
AA Change: L398F
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: L398F
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 94.9%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,964,666 (GRCm39) |
Y2158H |
probably damaging |
Het |
| Acap1 |
T |
G |
11: 69,777,896 (GRCm39) |
|
probably null |
Het |
| Adamts4 |
T |
A |
1: 171,080,284 (GRCm39) |
I279N |
possibly damaging |
Het |
| Akap3 |
A |
G |
6: 126,843,496 (GRCm39) |
E705G |
probably damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,965,422 (GRCm39) |
T477A |
probably benign |
Het |
| Catsperg1 |
A |
T |
7: 28,910,239 (GRCm39) |
L34* |
probably null |
Het |
| Ccdc171 |
T |
G |
4: 83,713,456 (GRCm39) |
L1165R |
probably damaging |
Het |
| Ccdc3 |
G |
A |
2: 5,233,838 (GRCm39) |
V221I |
probably benign |
Het |
| Cdc42ep4 |
T |
A |
11: 113,619,812 (GRCm39) |
H193L |
probably damaging |
Het |
| Clcn1 |
G |
A |
6: 42,277,208 (GRCm39) |
W361* |
probably null |
Het |
| Cntn2 |
T |
C |
1: 132,446,090 (GRCm39) |
N832S |
probably benign |
Het |
| Col5a1 |
A |
T |
2: 27,904,389 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,217,945 (GRCm39) |
D785G |
probably benign |
Het |
| Cspg4b |
C |
A |
13: 113,457,260 (GRCm39) |
P1102Q |
possibly damaging |
Het |
| Ctc1 |
T |
A |
11: 68,918,727 (GRCm39) |
M550K |
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,532,952 (GRCm39) |
R273G |
probably damaging |
Het |
| Dnajb7 |
T |
C |
15: 81,291,500 (GRCm39) |
E279G |
probably benign |
Het |
| Dop1a |
G |
T |
9: 86,397,347 (GRCm39) |
G882W |
possibly damaging |
Het |
| Dvl2 |
A |
G |
11: 69,896,819 (GRCm39) |
R238G |
possibly damaging |
Het |
| Ect2l |
A |
T |
10: 18,017,592 (GRCm39) |
L629Q |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,533,024 (GRCm39) |
D497G |
possibly damaging |
Het |
| Ep400 |
T |
C |
5: 110,903,661 (GRCm39) |
M313V |
probably benign |
Het |
| Epn2 |
T |
C |
11: 61,437,323 (GRCm39) |
Y83C |
probably damaging |
Het |
| Ercc3 |
T |
G |
18: 32,379,807 (GRCm39) |
V338G |
probably damaging |
Het |
| Fkbp5 |
T |
C |
17: 28,647,440 (GRCm39) |
I132V |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,638,449 (GRCm39) |
Y1846N |
probably damaging |
Het |
| Foxg1 |
T |
C |
12: 49,432,161 (GRCm39) |
L298P |
possibly damaging |
Het |
| Foxo3 |
G |
A |
10: 42,073,210 (GRCm39) |
P436S |
probably benign |
Het |
| Gbx2 |
T |
C |
1: 89,858,159 (GRCm39) |
T107A |
probably benign |
Het |
| Gli1 |
G |
T |
10: 127,170,184 (GRCm39) |
H324N |
probably damaging |
Het |
| Gnas |
T |
A |
2: 174,141,645 (GRCm39) |
S605T |
possibly damaging |
Het |
| Ica1 |
C |
T |
6: 8,630,783 (GRCm39) |
A431T |
probably benign |
Het |
| Il10ra |
C |
T |
9: 45,167,601 (GRCm39) |
D319N |
probably damaging |
Het |
| Jmjd4 |
T |
A |
11: 59,344,870 (GRCm39) |
H274Q |
probably damaging |
Het |
| Krt28 |
C |
A |
11: 99,262,027 (GRCm39) |
L294F |
probably benign |
Het |
| Ltbp3 |
C |
A |
19: 5,802,122 (GRCm39) |
T766K |
probably damaging |
Het |
| Man2b2 |
C |
A |
5: 36,970,382 (GRCm39) |
M841I |
probably benign |
Het |
| Mmp14 |
T |
A |
14: 54,673,347 (GRCm39) |
M85K |
probably benign |
Het |
| Mmp1b |
T |
A |
9: 7,385,031 (GRCm39) |
D206V |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,418,445 (GRCm39) |
F3797S |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,842,697 (GRCm39) |
D561G |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,709,002 (GRCm39) |
H471Q |
probably damaging |
Het |
| Nfkb2 |
A |
G |
19: 46,300,251 (GRCm39) |
E873G |
probably damaging |
Het |
| Ngfr |
G |
A |
11: 95,461,832 (GRCm39) |
H361Y |
possibly damaging |
Het |
| Nnt |
T |
C |
13: 119,494,045 (GRCm39) |
T679A |
possibly damaging |
Het |
| Notch1 |
A |
T |
2: 26,362,924 (GRCm39) |
N947K |
probably benign |
Het |
| Nrg4 |
A |
T |
9: 55,143,774 (GRCm39) |
V94D |
probably benign |
Het |
| Nsd1 |
G |
T |
13: 55,441,422 (GRCm39) |
C1631F |
probably damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,435 (GRCm39) |
T827A |
probably benign |
Het |
| Or2t47 |
T |
A |
11: 58,442,892 (GRCm39) |
M58L |
possibly damaging |
Het |
| Or4c114 |
T |
C |
2: 88,904,898 (GRCm39) |
D179G |
probably damaging |
Het |
| Or5h19 |
A |
T |
16: 58,856,351 (GRCm39) |
Y250N |
probably damaging |
Het |
| Or6p1 |
C |
A |
1: 174,258,135 (GRCm39) |
S47* |
probably null |
Het |
| Or8b36 |
TTGCTGT |
TTGCTGTCTGCTGT |
9: 37,937,837 (GRCm39) |
|
probably null |
Het |
| Orai3 |
C |
T |
7: 127,373,050 (GRCm39) |
P184S |
probably benign |
Het |
| Paqr3 |
A |
T |
5: 97,259,137 (GRCm39) |
S56T |
probably benign |
Het |
| Pard6b |
C |
T |
2: 167,940,973 (GRCm39) |
T320M |
possibly damaging |
Het |
| Pgs1 |
T |
C |
11: 117,892,535 (GRCm39) |
S166P |
probably damaging |
Het |
| Plaa |
T |
C |
4: 94,478,121 (GRCm39) |
T114A |
probably benign |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Plin4 |
A |
T |
17: 56,415,618 (GRCm39) |
D73E |
probably benign |
Het |
| Plxnb1 |
T |
C |
9: 108,940,775 (GRCm39) |
L1550P |
probably damaging |
Het |
| Rbak |
A |
C |
5: 143,160,437 (GRCm39) |
Y205* |
probably null |
Het |
| Rgs12 |
T |
C |
5: 35,123,296 (GRCm39) |
F360L |
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,100,153 (GRCm39) |
D187E |
probably benign |
Het |
| Sec24d |
C |
T |
3: 123,072,871 (GRCm39) |
Q66* |
probably null |
Het |
| Sh2d5 |
T |
A |
4: 137,982,873 (GRCm39) |
M85K |
probably damaging |
Het |
| Sos1 |
A |
G |
17: 80,722,463 (GRCm39) |
V861A |
possibly damaging |
Het |
| Stk11ip |
T |
A |
1: 75,510,899 (GRCm39) |
|
probably null |
Het |
| Tmem26 |
G |
A |
10: 68,584,314 (GRCm39) |
E127K |
probably benign |
Het |
| Tmem41a |
T |
G |
16: 21,753,739 (GRCm39) |
T211P |
possibly damaging |
Het |
| Tmem69 |
T |
A |
4: 116,410,581 (GRCm39) |
M130L |
possibly damaging |
Het |
| Trak2 |
C |
A |
1: 58,943,228 (GRCm39) |
R726L |
possibly damaging |
Het |
| Vmn1r231 |
A |
G |
17: 21,110,081 (GRCm39) |
I278T |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,577,628 (GRCm39) |
V490I |
probably benign |
Het |
| Wdr33 |
C |
T |
18: 32,011,116 (GRCm39) |
T255I |
possibly damaging |
Het |
| Ylpm1 |
G |
T |
12: 85,043,277 (GRCm39) |
W5L |
possibly damaging |
Het |
| Zfp169 |
A |
T |
13: 48,652,334 (GRCm39) |
W28R |
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 |
|
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 |
|
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'- TCAATGAAGCAGATCCCGATG -3'
(R):5'- CAGAGAGTATTTGTGTTCCGC -3'
Sequencing Primer
(F):5'- ATCCCGATGCCCAGTGAGAAG -3'
(R):5'- TCAGAGCCCACTGGGTTAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation