Incidental Mutation 'R7652:Arap3'
| ID |
590953 |
| 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 |
045729-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.814)
|
| Stock # |
R7652 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
38105681-38132022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 38111505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 1137
(T1137K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042944]
|
| AlphaFold |
Q8R5G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042944
AA Change: T1137K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: T1137K
| 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: 98.7%
|
| Validation Efficiency |
100% (66/66) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
G |
4: 156,253,675 (GRCm39) |
|
probably null |
Het |
| Alb |
G |
C |
5: 90,615,214 (GRCm39) |
R242P |
probably damaging |
Het |
| Anxa2r2 |
A |
T |
13: 120,488,529 (GRCm39) |
S7T |
possibly damaging |
Het |
| Aph1b |
T |
C |
9: 66,691,823 (GRCm39) |
T195A |
probably benign |
Het |
| Apoe |
G |
T |
7: 19,430,535 (GRCm39) |
R236S |
possibly damaging |
Het |
| Arhgap45 |
C |
T |
10: 79,864,672 (GRCm39) |
A908V |
probably benign |
Het |
| Atp13a1 |
T |
C |
8: 70,258,209 (GRCm39) |
C965R |
probably damaging |
Het |
| C7 |
A |
G |
15: 5,041,587 (GRCm39) |
Y440H |
probably damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,401,397 (GRCm39) |
|
probably null |
Het |
| Ddah2 |
C |
A |
17: 35,280,026 (GRCm39) |
R173S |
possibly damaging |
Het |
| Dnajc11 |
T |
C |
4: 152,058,682 (GRCm39) |
Y337H |
probably damaging |
Het |
| Dnajc25 |
A |
G |
4: 59,020,483 (GRCm39) |
K302R |
probably benign |
Het |
| Dnajc6 |
A |
T |
4: 101,463,874 (GRCm39) |
Q209L |
probably damaging |
Het |
| Drosha |
G |
A |
15: 12,859,522 (GRCm39) |
V577I |
probably benign |
Het |
| Ebf2 |
G |
T |
14: 67,628,016 (GRCm39) |
|
probably null |
Het |
| Epx |
A |
G |
11: 87,766,160 (GRCm39) |
|
probably null |
Het |
| Eqtn |
T |
C |
4: 94,816,574 (GRCm39) |
Y73C |
probably damaging |
Het |
| Fam107b |
A |
G |
2: 3,773,884 (GRCm39) |
N21S |
probably benign |
Het |
| Fasn |
G |
A |
11: 120,707,154 (GRCm39) |
S857F |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,406,336 (GRCm39) |
N1029S |
probably damaging |
Het |
| Gas8 |
A |
G |
8: 124,253,275 (GRCm39) |
I208V |
probably benign |
Het |
| Gm3269 |
T |
C |
14: 16,026,209 (GRCm39) |
I88T |
probably benign |
Het |
| Gm8005 |
C |
A |
14: 42,258,919 (GRCm39) |
L136F |
|
Het |
| Grid2ip |
C |
A |
5: 143,368,393 (GRCm39) |
P743Q |
probably damaging |
Het |
| H2-T15 |
A |
T |
17: 36,367,675 (GRCm39) |
V221D |
probably damaging |
Het |
| Hbs1l |
C |
T |
10: 21,240,659 (GRCm39) |
T626I |
probably benign |
Het |
| Hdac3 |
T |
A |
18: 38,087,972 (GRCm39) |
|
probably benign |
Het |
| Hnrnpab |
T |
C |
11: 51,496,400 (GRCm39) |
Y94C |
probably damaging |
Het |
| Homer2 |
T |
C |
7: 81,299,414 (GRCm39) |
D17G |
probably damaging |
Het |
| Ikbke |
C |
T |
1: 131,199,569 (GRCm39) |
R308Q |
probably damaging |
Het |
| Ints10 |
A |
G |
8: 69,277,771 (GRCm39) |
T682A |
possibly damaging |
Het |
| Klhl3 |
G |
A |
13: 58,261,146 (GRCm39) |
|
probably benign |
Het |
| Klk1b9 |
A |
T |
7: 43,445,514 (GRCm39) |
T235S |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,520,717 (GRCm39) |
T1798A |
probably benign |
Het |
| Kri1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTCCTCCTC |
9: 21,192,352 (GRCm39) |
|
probably benign |
Het |
| Krtap4-6 |
T |
C |
11: 99,556,440 (GRCm39) |
I96V |
unknown |
Het |
| Lef1 |
A |
C |
3: 130,994,003 (GRCm39) |
R354S |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,488,208 (GRCm39) |
L296* |
probably null |
Het |
| Maml2 |
T |
C |
9: 13,532,945 (GRCm39) |
Y720H |
|
Het |
| Mmrn1 |
A |
G |
6: 60,954,490 (GRCm39) |
N924D |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,474,156 (GRCm39) |
K1624E |
probably damaging |
Het |
| Nos3 |
T |
A |
5: 24,588,610 (GRCm39) |
V1112D |
probably damaging |
Het |
| Or2y14 |
T |
C |
11: 49,404,512 (GRCm39) |
F16L |
probably damaging |
Het |
| Or4c111 |
C |
T |
2: 88,843,893 (GRCm39) |
V172I |
probably benign |
Het |
| Or5an1b |
C |
A |
19: 12,299,651 (GRCm39) |
C180F |
probably damaging |
Het |
| Or5w13 |
A |
G |
2: 87,523,704 (GRCm39) |
I174T |
probably damaging |
Het |
| Or6c70 |
A |
T |
10: 129,710,346 (GRCm39) |
N93K |
probably damaging |
Het |
| Phospho1 |
T |
C |
11: 95,721,645 (GRCm39) |
L105S |
probably damaging |
Het |
| Prss35 |
T |
A |
9: 86,638,023 (GRCm39) |
N264K |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,677,578 (GRCm39) |
D732G |
probably benign |
Het |
| Rab18 |
A |
T |
18: 6,783,123 (GRCm39) |
T64S |
possibly damaging |
Het |
| Rft1 |
A |
G |
14: 30,399,773 (GRCm39) |
Q319R |
probably benign |
Het |
| Rgs7 |
T |
A |
1: 174,921,396 (GRCm39) |
M220L |
probably benign |
Het |
| Rnf13 |
A |
G |
3: 57,671,772 (GRCm39) |
N28S |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,078,548 (GRCm39) |
I311N |
probably damaging |
Het |
| Setd5 |
G |
A |
6: 113,098,725 (GRCm39) |
R786H |
probably damaging |
Het |
| Slc26a6 |
T |
C |
9: 108,733,143 (GRCm39) |
|
probably null |
Het |
| Slc26a9 |
A |
T |
1: 131,691,634 (GRCm39) |
T626S |
probably benign |
Het |
| Stambp |
A |
T |
6: 83,540,910 (GRCm39) |
|
probably null |
Het |
| Stom |
A |
T |
2: 35,206,041 (GRCm39) |
N229K |
probably benign |
Het |
| Tlr1 |
A |
T |
5: 65,084,130 (GRCm39) |
L149* |
probably null |
Het |
| Trpc3 |
C |
A |
3: 36,692,677 (GRCm39) |
V772F |
probably benign |
Het |
| Ube3a |
A |
G |
7: 58,893,102 (GRCm39) |
|
probably benign |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,369 (GRCm39) |
F207I |
probably damaging |
Het |
| Usp53 |
A |
T |
3: 122,746,884 (GRCm39) |
D360E |
possibly damaging |
Het |
| Vmn2r96 |
T |
G |
17: 18,793,832 (GRCm39) |
S59A |
probably benign |
Het |
| Wdr70 |
A |
G |
15: 8,108,700 (GRCm39) |
C149R |
probably benign |
Het |
| Wnt3 |
A |
G |
11: 103,703,290 (GRCm39) |
T258A |
possibly damaging |
Het |
| Zfp729b |
T |
C |
13: 67,739,371 (GRCm39) |
T965A |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
|
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'- CTCATCCACAGGGTGAACAC -3'
(R):5'- GAGTTCTTACCAAGGCCCAAG -3'
Sequencing Primer
(F):5'- TGGATGAGTTGACTAGTAAAACGTCC -3'
(R):5'- GGAGGTACCTAGGAGGCATTCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation