Incidental Mutation 'R7180:Arhgef5'
| ID |
558902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef5
|
| Ensembl Gene |
ENSMUSG00000033542 |
| Gene Name |
Rho guanine nucleotide exchange factor (GEF) 5 |
| Synonyms |
2210412D05Rik |
| MMRRC Submission |
045233-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7180 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
43265582-43289320 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43275208 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 964
(N964K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031750]
|
| AlphaFold |
E9Q7D5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031750
AA Change: N964K
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: N964K
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (80/81) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat2 |
A |
C |
4: 49,381,803 (GRCm38) |
Y196* |
probably null |
Het |
| Agrn |
C |
T |
4: 156,171,839 (GRCm38) |
R1405H |
probably benign |
Het |
| Agtpbp1 |
G |
A |
13: 59,466,038 (GRCm38) |
H1030Y |
probably benign |
Het |
| Ankrd37 |
C |
T |
8: 45,999,854 (GRCm38) |
|
probably benign |
Het |
| Ap1g2 |
G |
C |
14: 55,104,451 (GRCm38) |
P218R |
probably damaging |
Het |
| Ap2a1 |
C |
T |
7: 44,923,804 (GRCm38) |
|
probably null |
Het |
| Apc2 |
T |
A |
10: 80,311,156 (GRCm38) |
D681E |
possibly damaging |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,888,136 (GRCm38) |
|
probably benign |
Het |
| Ccnf |
T |
A |
17: 24,223,915 (GRCm38) |
M773L |
probably benign |
Het |
| Ces1e |
A |
C |
8: 93,215,144 (GRCm38) |
S234A |
probably damaging |
Het |
| Ces1g |
T |
A |
8: 93,302,948 (GRCm38) |
E552V |
probably benign |
Het |
| Ctcfl |
A |
T |
2: 173,105,977 (GRCm38) |
|
probably null |
Het |
| Dkk2 |
T |
A |
3: 132,086,192 (GRCm38) |
S54T |
probably damaging |
Het |
| Dll1 |
A |
G |
17: 15,374,869 (GRCm38) |
S49P |
probably benign |
Het |
| Dscam |
C |
A |
16: 96,825,564 (GRCm38) |
A382S |
probably damaging |
Het |
| Eif5b |
A |
T |
1: 38,049,074 (GRCm38) |
M1020L |
probably damaging |
Het |
| Enpp4 |
T |
C |
17: 44,102,037 (GRCm38) |
D202G |
probably benign |
Het |
| Eps8 |
A |
T |
6: 137,479,074 (GRCm38) |
I803N |
possibly damaging |
Het |
| Etv2 |
C |
A |
7: 30,635,649 (GRCm38) |
G28V |
probably damaging |
Het |
| Fadd |
A |
T |
7: 144,580,785 (GRCm38) |
V121E |
probably damaging |
Het |
| Fam149b |
T |
C |
14: 20,381,785 (GRCm38) |
Y545H |
probably benign |
Het |
| Fam196b |
A |
G |
11: 34,419,873 (GRCm38) |
K526E |
probably damaging |
Het |
| Fbxl21 |
A |
T |
13: 56,523,527 (GRCm38) |
M1L |
probably benign |
Het |
| Flg2 |
T |
C |
3: 93,202,833 (GRCm38) |
S723P |
unknown |
Het |
| Gm4884 |
C |
T |
7: 41,044,209 (GRCm38) |
T534I |
possibly damaging |
Het |
| Gm8994 |
T |
A |
6: 136,329,537 (GRCm38) |
I332N |
probably damaging |
Het |
| Gpbar1 |
A |
T |
1: 74,278,633 (GRCm38) |
I12F |
possibly damaging |
Het |
| Gpr151 |
A |
T |
18: 42,578,956 (GRCm38) |
L219* |
probably null |
Het |
| Hdgfl2 |
T |
A |
17: 56,097,532 (GRCm38) |
|
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,308,342 (GRCm38) |
M200V |
probably benign |
Het |
| Idua |
A |
G |
5: 108,680,895 (GRCm38) |
N335S |
probably benign |
Het |
| Ifit1bl1 |
A |
T |
19: 34,593,902 (GRCm38) |
F385Y |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,254,262 (GRCm38) |
D1624G |
probably damaging |
Het |
| Igsf9b |
A |
T |
9: 27,322,668 (GRCm38) |
T388S |
possibly damaging |
Het |
| Ikbkap |
A |
T |
4: 56,796,535 (GRCm38) |
S118R |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,282,411 (GRCm38) |
I237V |
probably benign |
Het |
| Kat5 |
C |
A |
19: 5,603,961 (GRCm38) |
K398N |
probably damaging |
Het |
| Lmbrd2 |
T |
A |
15: 9,175,196 (GRCm38) |
V398E |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,556,965 (GRCm38) |
N2744D |
probably damaging |
Het |
| Lrrd1 |
T |
C |
5: 3,851,459 (GRCm38) |
I588T |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,418,494 (GRCm38) |
F418L |
probably damaging |
Het |
| Magi1 |
T |
A |
6: 93,815,750 (GRCm38) |
D169V |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,335,751 (GRCm38) |
E1048G |
probably damaging |
Het |
| Myh9 |
T |
C |
15: 77,807,910 (GRCm38) |
I150V |
probably benign |
Het |
| Nckap1 |
A |
T |
2: 80,506,892 (GRCm38) |
M1006K |
probably benign |
Het |
| Nkain1 |
C |
T |
4: 130,533,925 (GRCm38) |
V132I |
probably benign |
Het |
| Npy6r |
A |
T |
18: 44,276,156 (GRCm38) |
M215L |
probably benign |
Het |
| Nr3c2 |
A |
T |
8: 76,908,963 (GRCm38) |
Q231L |
probably damaging |
Het |
| Obox5 |
C |
T |
7: 15,757,924 (GRCm38) |
P88L |
probably benign |
Het |
| Olfr514 |
A |
G |
7: 108,825,979 (GRCm38) |
S7P |
probably damaging |
Het |
| Olfr827 |
T |
C |
10: 130,210,942 (GRCm38) |
T63A |
probably benign |
Het |
| P2rx7 |
A |
G |
5: 122,680,820 (GRCm38) |
D435G |
possibly damaging |
Het |
| Pdzd2 |
T |
A |
15: 12,376,123 (GRCm38) |
S1309C |
probably damaging |
Het |
| Pex5l |
C |
T |
3: 33,024,691 (GRCm38) |
|
probably null |
Het |
| Pip |
T |
A |
6: 41,847,631 (GRCm38) |
C18S |
probably damaging |
Het |
| Pla2g7 |
C |
T |
17: 43,599,076 (GRCm38) |
T157M |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,779,785 (GRCm38) |
Y2168C |
probably damaging |
Het |
| Rgs2 |
T |
C |
1: 144,002,148 (GRCm38) |
T137A |
probably benign |
Het |
| Rpl32 |
T |
A |
6: 115,807,807 (GRCm38) |
I31F |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,686,978 (GRCm38) |
Y2931C |
probably damaging |
Het |
| Slc4a4 |
G |
A |
5: 89,046,236 (GRCm38) |
E192K |
probably damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,765,580 (GRCm38) |
A521T |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,394,823 (GRCm38) |
E1058G |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,376,800 (GRCm38) |
R180G |
probably benign |
Het |
| Ssc5d |
A |
G |
7: 4,936,601 (GRCm38) |
T679A |
probably benign |
Het |
| Tas2r130 |
A |
C |
6: 131,630,248 (GRCm38) |
S195A |
probably benign |
Het |
| Tas2r135 |
C |
T |
6: 42,405,751 (GRCm38) |
R75* |
probably null |
Het |
| Terf2ip |
G |
T |
8: 112,011,420 (GRCm38) |
|
probably benign |
Het |
| Tm6sf2 |
G |
A |
8: 70,076,006 (GRCm38) |
R136K |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,967,998 (GRCm38) |
L858P |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,797,705 (GRCm38) |
D1466G |
possibly damaging |
Het |
| Trip4 |
A |
T |
9: 65,857,345 (GRCm38) |
L446Q |
probably damaging |
Het |
| Trpv3 |
G |
T |
11: 73,277,992 (GRCm38) |
V93L |
probably benign |
Het |
| Ubl4b |
A |
T |
3: 107,554,646 (GRCm38) |
H99Q |
probably damaging |
Het |
| Unc45a |
A |
T |
7: 80,329,821 (GRCm38) |
|
probably null |
Het |
| Vmn1r47 |
G |
T |
6: 90,022,353 (GRCm38) |
A156S |
probably damaging |
Het |
| Vmn2r33 |
T |
A |
7: 7,563,897 (GRCm38) |
H72L |
probably benign |
Het |
| Zeb1 |
G |
A |
18: 5,767,867 (GRCm38) |
V793M |
possibly damaging |
Het |
| Zfp628 |
C |
A |
7: 4,921,064 (GRCm38) |
Q762K |
probably benign |
Het |
|
| Other mutations in Arhgef5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Arhgef5
|
APN |
6 |
43,280,269 (GRCm38) |
nonsense |
probably null |
|
|
IGL01341:Arhgef5
|
APN |
6 |
43,283,991 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01576:Arhgef5
|
APN |
6 |
43,274,028 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL01761:Arhgef5
|
APN |
6 |
43,274,604 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02104:Arhgef5
|
APN |
6 |
43,272,411 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02208:Arhgef5
|
APN |
6 |
43,275,130 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL02487:Arhgef5
|
APN |
6 |
43,283,982 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02650:Arhgef5
|
APN |
6 |
43,272,935 (GRCm38) |
nonsense |
probably null |
|
|
IGL03292:Arhgef5
|
APN |
6 |
43,280,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03334:Arhgef5
|
APN |
6 |
43,274,000 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL03341:Arhgef5
|
APN |
6 |
43,280,651 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0047:Arhgef5
|
UTSW |
6 |
43,265,621 (GRCm38) |
splice site |
probably null |
|
|
R0206:Arhgef5
|
UTSW |
6 |
43,273,341 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0208:Arhgef5
|
UTSW |
6 |
43,273,341 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0698:Arhgef5
|
UTSW |
6 |
43,273,341 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1145:Arhgef5
|
UTSW |
6 |
43,273,088 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1145:Arhgef5
|
UTSW |
6 |
43,273,088 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1168:Arhgef5
|
UTSW |
6 |
43,273,396 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1355:Arhgef5
|
UTSW |
6 |
43,283,912 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1370:Arhgef5
|
UTSW |
6 |
43,283,912 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1481:Arhgef5
|
UTSW |
6 |
43,274,634 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1529:Arhgef5
|
UTSW |
6 |
43,279,515 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1532:Arhgef5
|
UTSW |
6 |
43,273,403 (GRCm38) |
missense |
probably benign |
|
|
R1663:Arhgef5
|
UTSW |
6 |
43,276,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1742:Arhgef5
|
UTSW |
6 |
43,280,199 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1852:Arhgef5
|
UTSW |
6 |
43,275,185 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1869:Arhgef5
|
UTSW |
6 |
43,288,682 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1880:Arhgef5
|
UTSW |
6 |
43,273,088 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2146:Arhgef5
|
UTSW |
6 |
43,283,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2169:Arhgef5
|
UTSW |
6 |
43,274,420 (GRCm38) |
missense |
probably benign |
0.11 |
|
R3412:Arhgef5
|
UTSW |
6 |
43,273,790 (GRCm38) |
missense |
probably benign |
|
|
R4205:Arhgef5
|
UTSW |
6 |
43,273,832 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R4226:Arhgef5
|
UTSW |
6 |
43,279,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4227:Arhgef5
|
UTSW |
6 |
43,279,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4304:Arhgef5
|
UTSW |
6 |
43,279,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4308:Arhgef5
|
UTSW |
6 |
43,279,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4457:Arhgef5
|
UTSW |
6 |
43,274,093 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4469:Arhgef5
|
UTSW |
6 |
43,275,099 (GRCm38) |
missense |
probably benign |
|
|
R4636:Arhgef5
|
UTSW |
6 |
43,274,942 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4791:Arhgef5
|
UTSW |
6 |
43,283,183 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4818:Arhgef5
|
UTSW |
6 |
43,273,550 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4910:Arhgef5
|
UTSW |
6 |
43,272,828 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4911:Arhgef5
|
UTSW |
6 |
43,272,828 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5127:Arhgef5
|
UTSW |
6 |
43,273,214 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5209:Arhgef5
|
UTSW |
6 |
43,273,700 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5245:Arhgef5
|
UTSW |
6 |
43,265,680 (GRCm38) |
start gained |
probably benign |
|
|
R5251:Arhgef5
|
UTSW |
6 |
43,272,881 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R5513:Arhgef5
|
UTSW |
6 |
43,272,339 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5613:Arhgef5
|
UTSW |
6 |
43,274,063 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5616:Arhgef5
|
UTSW |
6 |
43,275,940 (GRCm38) |
missense |
probably benign |
0.20 |
|
R5817:Arhgef5
|
UTSW |
6 |
43,275,104 (GRCm38) |
missense |
probably benign |
0.15 |
|
R6024:Arhgef5
|
UTSW |
6 |
43,275,134 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6735:Arhgef5
|
UTSW |
6 |
43,275,032 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6825:Arhgef5
|
UTSW |
6 |
43,274,961 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6831:Arhgef5
|
UTSW |
6 |
43,280,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6901:Arhgef5
|
UTSW |
6 |
43,273,298 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6932:Arhgef5
|
UTSW |
6 |
43,274,417 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6968:Arhgef5
|
UTSW |
6 |
43,275,342 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7018:Arhgef5
|
UTSW |
6 |
43,288,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7201:Arhgef5
|
UTSW |
6 |
43,273,232 (GRCm38) |
nonsense |
probably null |
|
|
R7358:Arhgef5
|
UTSW |
6 |
43,279,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7359:Arhgef5
|
UTSW |
6 |
43,280,282 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7468:Arhgef5
|
UTSW |
6 |
43,280,671 (GRCm38) |
nonsense |
probably null |
|
|
R7503:Arhgef5
|
UTSW |
6 |
43,273,999 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7699:Arhgef5
|
UTSW |
6 |
43,274,757 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7700:Arhgef5
|
UTSW |
6 |
43,274,757 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7737:Arhgef5
|
UTSW |
6 |
43,273,794 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R7847:Arhgef5
|
UTSW |
6 |
43,275,135 (GRCm38) |
nonsense |
probably null |
|
|
R7950:Arhgef5
|
UTSW |
6 |
43,273,925 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R8161:Arhgef5
|
UTSW |
6 |
43,283,951 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8178:Arhgef5
|
UTSW |
6 |
43,275,185 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8203:Arhgef5
|
UTSW |
6 |
43,280,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8318:Arhgef5
|
UTSW |
6 |
43,275,999 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8857:Arhgef5
|
UTSW |
6 |
43,287,624 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9499:Arhgef5
|
UTSW |
6 |
43,284,006 (GRCm38) |
missense |
|
|
|
R9610:Arhgef5
|
UTSW |
6 |
43,280,956 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9611:Arhgef5
|
UTSW |
6 |
43,280,956 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9623:Arhgef5
|
UTSW |
6 |
43,274,802 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R9685:Arhgef5
|
UTSW |
6 |
43,273,593 (GRCm38) |
missense |
probably benign |
0.11 |
|
RF023:Arhgef5
|
UTSW |
6 |
43,279,473 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0028:Arhgef5
|
UTSW |
6 |
43,273,701 (GRCm38) |
missense |
probably benign |
0.03 |
|
X0065:Arhgef5
|
UTSW |
6 |
43,272,408 (GRCm38) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAATAATGAAGTGTCCCCTGGCC -3'
(R):5'- GCTTTCAGGCAAAATTGAAGGTC -3'
Sequencing Primer
(F):5'- CTGGCCTGGCTTTCAGC -3'
(R):5'- GGTCTACGAAGGCCTTGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation