Incidental Mutation 'R0208:Arhgef5'
| ID |
33468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef5
|
| Ensembl Gene |
ENSMUSG00000033542 |
| Gene Name |
Rho guanine nucleotide exchange factor 5 |
| Synonyms |
2210412D05Rik |
| MMRRC Submission |
038461-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0208 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
43242578-43266254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43250275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 342
(E342G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031750]
|
| AlphaFold |
E9Q7D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031750
AA Change: E342G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: E342G
| 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 |
probably benign
Transcript: ENSMUST00000182924
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203387
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.7%
|
| Validation Efficiency |
96% (67/70) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
C |
T |
3: 59,840,110 (GRCm39) |
R61C |
probably damaging |
Het |
| Ackr4 |
A |
G |
9: 103,976,860 (GRCm39) |
V29A |
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,458,656 (GRCm39) |
F313L |
probably benign |
Het |
| Arfgef2 |
C |
T |
2: 166,709,342 (GRCm39) |
R1140W |
probably damaging |
Het |
| Arhgef15 |
A |
T |
11: 68,837,199 (GRCm39) |
N797K |
probably benign |
Het |
| Asb2 |
T |
A |
12: 103,291,530 (GRCm39) |
N466Y |
possibly damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,932,064 (GRCm39) |
|
probably null |
Het |
| Cacna1b |
A |
G |
2: 24,497,492 (GRCm39) |
S2140P |
probably damaging |
Het |
| Camsap2 |
G |
C |
1: 136,208,738 (GRCm39) |
P918R |
probably damaging |
Het |
| Cdk7 |
G |
T |
13: 100,843,022 (GRCm39) |
D202E |
probably benign |
Het |
| Cenpj |
G |
T |
14: 56,801,427 (GRCm39) |
A182E |
probably benign |
Het |
| Clstn3 |
A |
G |
6: 124,409,128 (GRCm39) |
|
probably benign |
Het |
| Col9a2 |
C |
T |
4: 120,909,485 (GRCm39) |
|
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,116,385 (GRCm39) |
M1745T |
probably damaging |
Het |
| Dnah11 |
A |
C |
12: 118,007,509 (GRCm39) |
N2156K |
probably damaging |
Het |
| Dock3 |
G |
T |
9: 106,874,195 (GRCm39) |
Y425* |
probably null |
Het |
| Eng |
A |
T |
2: 32,569,005 (GRCm39) |
T511S |
probably benign |
Het |
| Gcfc2 |
A |
T |
6: 81,920,444 (GRCm39) |
S410C |
probably null |
Het |
| Grik3 |
T |
A |
4: 125,579,958 (GRCm39) |
Y568N |
probably damaging |
Het |
| Gsr |
T |
A |
8: 34,179,383 (GRCm39) |
D330E |
possibly damaging |
Het |
| H2-M10.4 |
A |
G |
17: 36,771,375 (GRCm39) |
W268R |
probably damaging |
Het |
| Hepacam2 |
A |
T |
6: 3,467,505 (GRCm39) |
|
probably benign |
Het |
| Hrct1 |
C |
A |
4: 43,727,384 (GRCm39) |
T8K |
possibly damaging |
Het |
| Idua |
T |
A |
5: 108,829,618 (GRCm39) |
F447I |
probably damaging |
Het |
| Il2ra |
T |
C |
2: 11,686,828 (GRCm39) |
|
probably benign |
Het |
| Ipcef1 |
A |
G |
10: 6,870,062 (GRCm39) |
S113P |
probably damaging |
Het |
| Klk1b9 |
T |
A |
7: 43,628,854 (GRCm39) |
N119K |
possibly damaging |
Het |
| Krtap9-3 |
C |
A |
11: 99,488,663 (GRCm39) |
C73F |
probably damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,492,562 (GRCm39) |
F1334L |
possibly damaging |
Het |
| Med1 |
A |
G |
11: 98,046,515 (GRCm39) |
|
probably benign |
Het |
| Med13 |
A |
G |
11: 86,191,682 (GRCm39) |
|
probably benign |
Het |
| Mtor |
C |
A |
4: 148,549,432 (GRCm39) |
H605Q |
probably benign |
Het |
| Muc19 |
A |
G |
15: 91,777,218 (GRCm39) |
|
noncoding transcript |
Het |
| Mybphl |
T |
C |
3: 108,282,731 (GRCm39) |
V207A |
probably damaging |
Het |
| Nptxr |
A |
T |
15: 79,673,916 (GRCm39) |
C366S |
probably null |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or5p73 |
A |
G |
7: 108,064,750 (GRCm39) |
D73G |
probably damaging |
Het |
| Or8h9 |
G |
T |
2: 86,789,748 (GRCm39) |
T18K |
probably damaging |
Het |
| Pcdhb18 |
T |
C |
18: 37,623,240 (GRCm39) |
I190T |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,097,216 (GRCm39) |
T428A |
probably benign |
Het |
| Pgbd1 |
A |
C |
13: 21,618,651 (GRCm39) |
L2R |
probably damaging |
Het |
| Pkp4 |
A |
G |
2: 59,096,780 (GRCm39) |
I61V |
probably damaging |
Het |
| Pold4 |
T |
G |
19: 4,282,593 (GRCm39) |
Y58* |
probably null |
Het |
| Polr1d |
A |
C |
5: 147,015,490 (GRCm39) |
|
probably null |
Het |
| Prex2 |
T |
A |
1: 11,355,368 (GRCm39) |
D1556E |
probably damaging |
Het |
| Psmd1 |
T |
C |
1: 86,061,463 (GRCm39) |
V891A |
possibly damaging |
Het |
| Rasip1 |
C |
A |
7: 45,281,999 (GRCm39) |
P501T |
probably damaging |
Het |
| Scgb2b27 |
C |
A |
7: 33,711,562 (GRCm39) |
E96* |
probably null |
Het |
| Sec16b |
G |
T |
1: 157,380,505 (GRCm39) |
G359* |
probably null |
Het |
| Secisbp2 |
A |
G |
13: 51,833,881 (GRCm39) |
T674A |
probably benign |
Het |
| Serpinb6c |
G |
A |
13: 34,081,379 (GRCm39) |
S90L |
probably benign |
Het |
| Sgsm2 |
A |
G |
11: 74,759,067 (GRCm39) |
I170T |
probably damaging |
Het |
| Slc28a1 |
A |
T |
7: 80,767,454 (GRCm39) |
|
probably benign |
Het |
| Slc35d1 |
T |
C |
4: 103,065,351 (GRCm39) |
T177A |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,886,177 (GRCm39) |
|
probably null |
Het |
| Spint1 |
T |
C |
2: 119,078,826 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,020,526 (GRCm39) |
H545R |
probably damaging |
Het |
| Tada3 |
A |
T |
6: 113,343,968 (GRCm39) |
L227Q |
probably damaging |
Het |
| Tln1 |
C |
T |
4: 43,549,151 (GRCm39) |
V644M |
probably damaging |
Het |
| Unc79 |
G |
A |
12: 103,058,286 (GRCm39) |
V1016I |
probably benign |
Het |
| Usf3 |
C |
A |
16: 44,037,269 (GRCm39) |
A583E |
probably damaging |
Het |
| Ush2a |
A |
C |
1: 188,263,958 (GRCm39) |
I1612L |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,447,333 (GRCm39) |
T578A |
probably benign |
Het |
| Zmat4 |
T |
A |
8: 24,392,083 (GRCm39) |
M13K |
probably damaging |
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 |
|
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 |
|
R7700: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'- TTCAATCTCAGGAAGCCCAGGGAC -3'
(R):5'- AGAACCTCAGGATCTACGGAAGCC -3'
Sequencing Primer
(F):5'- CCAAAGCTATATGCTACTTGGAGG -3'
(R):5'- AAGAGAAGGCTTGCTGTCCTC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation