Incidental Mutation 'R7700:Arhgef5'
| ID |
593929 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef5
|
| Ensembl Gene |
ENSMUSG00000033542 |
| Gene Name |
Rho guanine nucleotide exchange factor 5 |
| Synonyms |
2210412D05Rik |
| MMRRC Submission |
045761-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7700 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
43242578-43266254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43251691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 814
(I814T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031750]
|
| AlphaFold |
E9Q7D5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031750
AA Change: I814T
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: I814T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ARHGEF5_35
|
1 |
477 |
3.1e-220 |
PFAM |
|
low complexity region
|
509 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
812 |
825 |
N/A |
INTRINSIC |
|
low complexity region
|
827 |
851 |
N/A |
INTRINSIC |
|
RhoGEF
|
1162 |
1341 |
2.97e-57 |
SMART |
|
PH
|
1375 |
1488 |
1.11e-6 |
SMART |
|
SH3
|
1497 |
1554 |
6.39e-15 |
SMART |
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (85/85) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased Th2 response in an ovalbumin-induced asthma model. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
C |
19: 8,867,417 (GRCm39) |
L72P |
probably benign |
Het |
| 4930407I10Rik |
C |
A |
15: 81,948,306 (GRCm39) |
H734Q |
probably benign |
Het |
| Acadl |
A |
G |
1: 66,877,522 (GRCm39) |
V343A |
possibly damaging |
Het |
| Acot4 |
A |
T |
12: 84,090,011 (GRCm39) |
D236V |
probably damaging |
Het |
| App |
T |
A |
16: 84,837,197 (GRCm39) |
|
probably null |
Het |
| Arfgef1 |
G |
A |
1: 10,264,636 (GRCm39) |
T470I |
possibly damaging |
Het |
| Atr |
A |
T |
9: 95,757,743 (GRCm39) |
R968* |
probably null |
Het |
| Bltp1 |
T |
A |
3: 37,028,321 (GRCm39) |
N2329K |
possibly damaging |
Het |
| Bltp1 |
C |
T |
3: 37,080,303 (GRCm39) |
S267L |
probably benign |
Het |
| Capn7 |
C |
T |
14: 31,074,401 (GRCm39) |
T268I |
probably benign |
Het |
| Ccdc192 |
A |
G |
18: 57,696,388 (GRCm39) |
|
probably null |
Het |
| Ccn1 |
C |
T |
3: 145,354,447 (GRCm39) |
G155R |
probably damaging |
Het |
| Csmd2 |
G |
T |
4: 128,439,549 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
T |
2: 13,352,989 (GRCm39) |
F1916L |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,494,728 (GRCm39) |
V107A |
possibly damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,707,691 (GRCm39) |
T473S |
probably damaging |
Het |
| Dip2c |
T |
G |
13: 9,709,347 (GRCm39) |
S1396A |
probably benign |
Het |
| Dop1b |
T |
G |
16: 93,595,649 (GRCm39) |
|
probably null |
Het |
| Dyrk1b |
T |
C |
7: 27,883,737 (GRCm39) |
Y198H |
probably damaging |
Het |
| Echdc2 |
G |
T |
4: 108,031,274 (GRCm39) |
R206L |
probably benign |
Het |
| Ep400 |
C |
T |
5: 110,843,898 (GRCm39) |
R1594Q |
unknown |
Het |
| Esyt1 |
T |
A |
10: 128,351,723 (GRCm39) |
|
probably benign |
Het |
| Fmnl2 |
G |
A |
2: 52,926,520 (GRCm39) |
R69Q |
|
Het |
| Fry |
T |
A |
5: 150,328,792 (GRCm39) |
H1308Q |
probably damaging |
Het |
| Fyb2 |
T |
A |
4: 104,867,651 (GRCm39) |
D667E |
probably benign |
Het |
| Gimap7 |
T |
A |
6: 48,700,791 (GRCm39) |
Y126N |
possibly damaging |
Het |
| Gm1979 |
A |
T |
5: 26,205,178 (GRCm39) |
W266R |
probably damaging |
Het |
| Gm28042 |
T |
A |
2: 119,870,197 (GRCm39) |
M712K |
possibly damaging |
Het |
| Gm3238 |
A |
G |
10: 77,606,469 (GRCm39) |
*231R |
probably null |
Het |
| Gm5592 |
C |
A |
7: 40,935,831 (GRCm39) |
A111E |
probably damaging |
Het |
| Gm7694 |
A |
G |
1: 170,128,717 (GRCm39) |
*271Q |
probably null |
Het |
| Gm9195 |
A |
C |
14: 72,693,342 (GRCm39) |
|
probably null |
Het |
| Ift81 |
T |
C |
5: 122,732,623 (GRCm39) |
M304V |
possibly damaging |
Het |
| Igfals |
T |
C |
17: 25,099,548 (GRCm39) |
L213P |
probably damaging |
Het |
| Ints3 |
G |
A |
3: 90,329,111 (GRCm39) |
P83S |
probably benign |
Het |
| Kcna10 |
T |
G |
3: 107,102,856 (GRCm39) |
S496A |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,741,600 (GRCm39) |
A4520V |
unknown |
Het |
| Lemd3 |
A |
T |
10: 120,813,995 (GRCm39) |
Y413N |
probably damaging |
Het |
| Lgr6 |
T |
C |
1: 134,923,770 (GRCm39) |
N453S |
probably damaging |
Het |
| Lmtk3 |
A |
C |
7: 45,441,998 (GRCm39) |
D352A |
probably damaging |
Het |
| Lrrc4c |
T |
C |
2: 97,461,024 (GRCm39) |
M550T |
possibly damaging |
Het |
| Maml2 |
A |
T |
9: 13,532,385 (GRCm39) |
Q533L |
|
Het |
| Mdn1 |
T |
A |
4: 32,741,344 (GRCm39) |
D3815E |
probably damaging |
Het |
| Megf8 |
C |
T |
7: 25,029,353 (GRCm39) |
A299V |
possibly damaging |
Het |
| Meis3 |
G |
T |
7: 15,911,481 (GRCm39) |
E59D |
probably benign |
Het |
| Mppe1 |
A |
G |
18: 67,358,775 (GRCm39) |
*398R |
probably null |
Het |
| Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
| Mtus1 |
T |
A |
8: 41,537,006 (GRCm39) |
T237S |
possibly damaging |
Het |
| Ndfip2 |
T |
A |
14: 105,525,193 (GRCm39) |
V158E |
possibly damaging |
Het |
| Nrbp2 |
T |
G |
15: 75,962,746 (GRCm39) |
T53P |
probably damaging |
Het |
| Nrde2 |
G |
A |
12: 100,097,094 (GRCm39) |
P902L |
probably benign |
Het |
| Or10ab5 |
T |
A |
7: 108,244,879 (GRCm39) |
K301N |
probably damaging |
Het |
| Or11g24 |
T |
A |
14: 50,662,792 (GRCm39) |
M272K |
probably benign |
Het |
| Or2y13 |
A |
G |
11: 49,415,381 (GRCm39) |
Y277C |
probably damaging |
Het |
| Or6c202 |
T |
C |
10: 128,995,924 (GRCm39) |
M310V |
probably benign |
Het |
| Pcdha1 |
A |
G |
18: 37,064,115 (GRCm39) |
T260A |
probably damaging |
Het |
| Pdlim1 |
T |
G |
19: 40,238,102 (GRCm39) |
K98N |
probably damaging |
Het |
| Pdxk |
A |
T |
10: 78,279,764 (GRCm39) |
|
probably null |
Het |
| Phrf1 |
G |
A |
7: 140,834,842 (GRCm39) |
G207R |
unknown |
Het |
| Pik3r6 |
A |
G |
11: 68,419,389 (GRCm39) |
K124R |
probably damaging |
Het |
| Polr2b |
T |
A |
5: 77,488,268 (GRCm39) |
F823I |
probably benign |
Het |
| Prss58 |
T |
C |
6: 40,872,322 (GRCm39) |
I234V |
probably damaging |
Het |
| Ptpn14 |
A |
T |
1: 189,597,608 (GRCm39) |
N766I |
probably benign |
Het |
| Qrfprl |
T |
A |
6: 65,429,940 (GRCm39) |
I212N |
probably benign |
Het |
| Repin1 |
T |
A |
6: 48,574,756 (GRCm39) |
S562T |
probably damaging |
Het |
| Rgr |
C |
T |
14: 36,766,552 (GRCm39) |
D165N |
probably damaging |
Het |
| Rho |
T |
C |
6: 115,912,200 (GRCm39) |
F221L |
probably damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rnase2a |
A |
G |
14: 51,493,248 (GRCm39) |
I39T |
probably damaging |
Het |
| Rpl13a |
T |
G |
7: 44,776,660 (GRCm39) |
I43L |
probably benign |
Het |
| Rpp30 |
T |
C |
19: 36,066,558 (GRCm39) |
V97A |
probably benign |
Het |
| Scube3 |
T |
C |
17: 28,386,023 (GRCm39) |
Y755H |
probably damaging |
Het |
| Sec24a |
A |
T |
11: 51,603,084 (GRCm39) |
V788E |
probably damaging |
Het |
| Spns2 |
A |
T |
11: 72,380,443 (GRCm39) |
L60* |
probably null |
Het |
| Strc |
T |
C |
2: 121,202,229 (GRCm39) |
N1213S |
possibly damaging |
Het |
| Tec |
A |
T |
5: 72,943,367 (GRCm39) |
I116N |
possibly damaging |
Het |
| Tll1 |
A |
T |
8: 64,546,988 (GRCm39) |
D319E |
probably benign |
Het |
| Tmem121b |
T |
C |
6: 120,470,388 (GRCm39) |
T110A |
unknown |
Het |
| Tmem232 |
T |
A |
17: 65,572,213 (GRCm39) |
I593F |
probably damaging |
Het |
| Tpp2 |
A |
G |
1: 44,009,626 (GRCm39) |
I487V |
probably benign |
Het |
| Ubr4 |
C |
A |
4: 139,136,178 (GRCm39) |
C934* |
probably null |
Het |
| Vmn1r68 |
A |
G |
7: 10,261,559 (GRCm39) |
Y180H |
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,816,882 (GRCm39) |
D233G |
possibly damaging |
Het |
| Wdr6 |
A |
G |
9: 108,453,560 (GRCm39) |
W108R |
possibly damaging |
Het |
| Zng1 |
A |
G |
19: 24,920,045 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Arhgef5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Arhgef5
|
APN |
6 |
43,257,203 (GRCm39) |
nonsense |
probably null |
|
|
IGL01341:Arhgef5
|
APN |
6 |
43,260,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01576:Arhgef5
|
APN |
6 |
43,250,962 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01761:Arhgef5
|
APN |
6 |
43,251,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02104:Arhgef5
|
APN |
6 |
43,249,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02208:Arhgef5
|
APN |
6 |
43,252,064 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02487:Arhgef5
|
APN |
6 |
43,260,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02650:Arhgef5
|
APN |
6 |
43,249,869 (GRCm39) |
nonsense |
probably null |
|
|
IGL03292:Arhgef5
|
APN |
6 |
43,257,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03334:Arhgef5
|
APN |
6 |
43,250,934 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03341:Arhgef5
|
APN |
6 |
43,257,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0047:Arhgef5
|
UTSW |
6 |
43,242,555 (GRCm39) |
splice site |
probably null |
|
|
R0206:Arhgef5
|
UTSW |
6 |
43,250,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0208:Arhgef5
|
UTSW |
6 |
43,250,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0698:Arhgef5
|
UTSW |
6 |
43,250,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1145:Arhgef5
|
UTSW |
6 |
43,250,022 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1145:Arhgef5
|
UTSW |
6 |
43,250,022 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1168:Arhgef5
|
UTSW |
6 |
43,250,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1355:Arhgef5
|
UTSW |
6 |
43,260,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1370:Arhgef5
|
UTSW |
6 |
43,260,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Arhgef5
|
UTSW |
6 |
43,251,568 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1529:Arhgef5
|
UTSW |
6 |
43,256,449 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1532:Arhgef5
|
UTSW |
6 |
43,250,337 (GRCm39) |
missense |
probably benign |
|
|
R1663:Arhgef5
|
UTSW |
6 |
43,253,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1742:Arhgef5
|
UTSW |
6 |
43,257,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Arhgef5
|
UTSW |
6 |
43,252,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1869:Arhgef5
|
UTSW |
6 |
43,265,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1880:Arhgef5
|
UTSW |
6 |
43,250,022 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2146:Arhgef5
|
UTSW |
6 |
43,260,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2169:Arhgef5
|
UTSW |
6 |
43,251,354 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3412:Arhgef5
|
UTSW |
6 |
43,250,724 (GRCm39) |
missense |
probably benign |
|
|
R4205:Arhgef5
|
UTSW |
6 |
43,250,766 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4226:Arhgef5
|
UTSW |
6 |
43,256,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4227:Arhgef5
|
UTSW |
6 |
43,256,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4304:Arhgef5
|
UTSW |
6 |
43,256,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4308:Arhgef5
|
UTSW |
6 |
43,256,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4457:Arhgef5
|
UTSW |
6 |
43,251,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4469:Arhgef5
|
UTSW |
6 |
43,252,033 (GRCm39) |
missense |
probably benign |
|
|
R4636:Arhgef5
|
UTSW |
6 |
43,251,876 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4791:Arhgef5
|
UTSW |
6 |
43,260,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4818:Arhgef5
|
UTSW |
6 |
43,250,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4910:Arhgef5
|
UTSW |
6 |
43,249,762 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4911:Arhgef5
|
UTSW |
6 |
43,249,762 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5127:Arhgef5
|
UTSW |
6 |
43,250,148 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5209:Arhgef5
|
UTSW |
6 |
43,250,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5245:Arhgef5
|
UTSW |
6 |
43,242,614 (GRCm39) |
start gained |
probably benign |
|
|
R5251:Arhgef5
|
UTSW |
6 |
43,249,815 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5513:Arhgef5
|
UTSW |
6 |
43,249,273 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5613:Arhgef5
|
UTSW |
6 |
43,250,997 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5616:Arhgef5
|
UTSW |
6 |
43,252,874 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5817:Arhgef5
|
UTSW |
6 |
43,252,038 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6024:Arhgef5
|
UTSW |
6 |
43,252,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6735:Arhgef5
|
UTSW |
6 |
43,251,966 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6825:Arhgef5
|
UTSW |
6 |
43,251,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6831:Arhgef5
|
UTSW |
6 |
43,257,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6901:Arhgef5
|
UTSW |
6 |
43,250,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6932:Arhgef5
|
UTSW |
6 |
43,251,351 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6968:Arhgef5
|
UTSW |
6 |
43,252,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7018:Arhgef5
|
UTSW |
6 |
43,265,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Arhgef5
|
UTSW |
6 |
43,252,142 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7201:Arhgef5
|
UTSW |
6 |
43,250,166 (GRCm39) |
nonsense |
probably null |
|
|
R7358:Arhgef5
|
UTSW |
6 |
43,256,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7359:Arhgef5
|
UTSW |
6 |
43,257,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7468:Arhgef5
|
UTSW |
6 |
43,257,605 (GRCm39) |
nonsense |
probably null |
|
|
R7503:Arhgef5
|
UTSW |
6 |
43,250,933 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7699:Arhgef5
|
UTSW |
6 |
43,251,691 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7737:Arhgef5
|
UTSW |
6 |
43,250,728 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7847:Arhgef5
|
UTSW |
6 |
43,252,069 (GRCm39) |
nonsense |
probably null |
|
|
R7950:Arhgef5
|
UTSW |
6 |
43,250,859 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8161:Arhgef5
|
UTSW |
6 |
43,260,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8178:Arhgef5
|
UTSW |
6 |
43,252,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8203:Arhgef5
|
UTSW |
6 |
43,257,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8318:Arhgef5
|
UTSW |
6 |
43,252,933 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8857:Arhgef5
|
UTSW |
6 |
43,264,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9499:Arhgef5
|
UTSW |
6 |
43,260,940 (GRCm39) |
missense |
|
|
|
R9610:Arhgef5
|
UTSW |
6 |
43,257,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9611:Arhgef5
|
UTSW |
6 |
43,257,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9623:Arhgef5
|
UTSW |
6 |
43,251,736 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9685:Arhgef5
|
UTSW |
6 |
43,250,527 (GRCm39) |
missense |
probably benign |
0.11 |
|
RF023:Arhgef5
|
UTSW |
6 |
43,256,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Arhgef5
|
UTSW |
6 |
43,250,635 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0065:Arhgef5
|
UTSW |
6 |
43,249,342 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAAGTTCAGGGCTCCATAG -3'
(R):5'- GAGGTTCGTCCAACAGAGAG -3'
Sequencing Primer
(F):5'- GGGCTCCATAGATCTTCTAAAGGC -3'
(R):5'- AGAGTAGAAGCTGTCCAGTCTTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation