Incidental Mutation 'R7180:Arhgef5'
| ID |
558902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef5
|
| Ensembl Gene |
ENSMUSG00000033542 |
| Gene Name |
Rho guanine nucleotide exchange factor 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 |
43242578-43266254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43252142 bp (GRCm39)
|
| 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 (GRCm39) |
Y196* |
probably null |
Het |
| Agrn |
C |
T |
4: 156,256,296 (GRCm39) |
R1405H |
probably benign |
Het |
| Agtpbp1 |
G |
A |
13: 59,613,852 (GRCm39) |
H1030Y |
probably benign |
Het |
| Ankrd37 |
C |
T |
8: 46,452,891 (GRCm39) |
|
probably benign |
Het |
| Ap1g2 |
G |
C |
14: 55,341,908 (GRCm39) |
P218R |
probably damaging |
Het |
| Ap2a1 |
C |
T |
7: 44,573,228 (GRCm39) |
|
probably null |
Het |
| Apc2 |
T |
A |
10: 80,146,990 (GRCm39) |
D681E |
possibly damaging |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| Ccnf |
T |
A |
17: 24,442,889 (GRCm39) |
M773L |
probably benign |
Het |
| Ces1e |
A |
C |
8: 93,941,772 (GRCm39) |
S234A |
probably damaging |
Het |
| Ces1g |
T |
A |
8: 94,029,576 (GRCm39) |
E552V |
probably benign |
Het |
| Ctcfl |
A |
T |
2: 172,947,770 (GRCm39) |
|
probably null |
Het |
| Dkk2 |
T |
A |
3: 131,791,953 (GRCm39) |
S54T |
probably damaging |
Het |
| Dll1 |
A |
G |
17: 15,595,131 (GRCm39) |
S49P |
probably benign |
Het |
| Dscam |
C |
A |
16: 96,626,764 (GRCm39) |
A382S |
probably damaging |
Het |
| Eif4a3l1 |
T |
A |
6: 136,306,535 (GRCm39) |
I332N |
probably damaging |
Het |
| Eif5b |
A |
T |
1: 38,088,155 (GRCm39) |
M1020L |
probably damaging |
Het |
| Elp1 |
A |
T |
4: 56,796,535 (GRCm39) |
S118R |
probably damaging |
Het |
| Enpp4 |
T |
C |
17: 44,412,928 (GRCm39) |
D202G |
probably benign |
Het |
| Eps8 |
A |
T |
6: 137,456,072 (GRCm39) |
I803N |
possibly damaging |
Het |
| Etv2 |
C |
A |
7: 30,335,074 (GRCm39) |
G28V |
probably damaging |
Het |
| Fadd |
A |
T |
7: 144,134,522 (GRCm39) |
V121E |
probably damaging |
Het |
| Fam149b |
T |
C |
14: 20,431,853 (GRCm39) |
Y545H |
probably benign |
Het |
| Fbxl21 |
A |
T |
13: 56,671,340 (GRCm39) |
M1L |
probably benign |
Het |
| Flg2 |
T |
C |
3: 93,110,140 (GRCm39) |
S723P |
unknown |
Het |
| Gm4884 |
C |
T |
7: 40,693,633 (GRCm39) |
T534I |
possibly damaging |
Het |
| Gpbar1 |
A |
T |
1: 74,317,792 (GRCm39) |
I12F |
possibly damaging |
Het |
| Gpr151 |
A |
T |
18: 42,712,021 (GRCm39) |
L219* |
probably null |
Het |
| Hdgfl2 |
T |
A |
17: 56,404,532 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,446,405 (GRCm39) |
M200V |
probably benign |
Het |
| Idua |
A |
G |
5: 108,828,761 (GRCm39) |
N335S |
probably benign |
Het |
| Ifit1bl1 |
A |
T |
19: 34,571,302 (GRCm39) |
F385Y |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,411,606 (GRCm39) |
D1624G |
probably damaging |
Het |
| Igsf9b |
A |
T |
9: 27,233,964 (GRCm39) |
T388S |
possibly damaging |
Het |
| Insyn2b |
A |
G |
11: 34,369,873 (GRCm39) |
K526E |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,259,811 (GRCm39) |
I237V |
probably benign |
Het |
| Kat5 |
C |
A |
19: 5,653,989 (GRCm39) |
K398N |
probably damaging |
Het |
| Lmbrd2 |
T |
A |
15: 9,175,283 (GRCm39) |
V398E |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,392,834 (GRCm39) |
N2744D |
probably damaging |
Het |
| Lrrd1 |
T |
C |
5: 3,901,459 (GRCm39) |
I588T |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,215,382 (GRCm39) |
F418L |
probably damaging |
Het |
| Magi1 |
T |
A |
6: 93,792,731 (GRCm39) |
D169V |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,253,988 (GRCm39) |
E1048G |
probably damaging |
Het |
| Myh9 |
T |
C |
15: 77,692,110 (GRCm39) |
I150V |
probably benign |
Het |
| Nckap1 |
A |
T |
2: 80,337,236 (GRCm39) |
M1006K |
probably benign |
Het |
| Nkain1 |
C |
T |
4: 130,533,925 (GRCm38) |
V132I |
probably benign |
Het |
| Npy6r |
A |
T |
18: 44,409,223 (GRCm39) |
M215L |
probably benign |
Het |
| Nr3c2 |
A |
T |
8: 77,635,592 (GRCm39) |
Q231L |
probably damaging |
Het |
| Obox5 |
C |
T |
7: 15,491,849 (GRCm39) |
P88L |
probably benign |
Het |
| Or10a48 |
A |
G |
7: 108,425,186 (GRCm39) |
S7P |
probably damaging |
Het |
| Or9k7 |
T |
C |
10: 130,046,811 (GRCm39) |
T63A |
probably benign |
Het |
| P2rx7 |
A |
G |
5: 122,818,883 (GRCm39) |
D435G |
possibly damaging |
Het |
| Pdzd2 |
T |
A |
15: 12,376,209 (GRCm39) |
S1309C |
probably damaging |
Het |
| Pex5l |
C |
T |
3: 33,078,840 (GRCm39) |
|
probably null |
Het |
| Pip |
T |
A |
6: 41,824,565 (GRCm39) |
C18S |
probably damaging |
Het |
| Pla2g7 |
C |
T |
17: 43,909,967 (GRCm39) |
T157M |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,768,229 (GRCm39) |
Y2168C |
probably damaging |
Het |
| Rgs2 |
T |
C |
1: 143,877,886 (GRCm39) |
T137A |
probably benign |
Het |
| Rpl32 |
T |
A |
6: 115,784,768 (GRCm39) |
I31F |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,701,864 (GRCm39) |
Y2931C |
probably damaging |
Het |
| Slc4a4 |
G |
A |
5: 89,194,095 (GRCm39) |
E192K |
probably damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,765,580 (GRCm38) |
A521T |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,701,818 (GRCm39) |
E1058G |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Ssc5d |
A |
G |
7: 4,939,600 (GRCm39) |
T679A |
probably benign |
Het |
| Tas2r130 |
A |
C |
6: 131,607,211 (GRCm39) |
S195A |
probably benign |
Het |
| Tas2r135 |
C |
T |
6: 42,382,685 (GRCm39) |
R75* |
probably null |
Het |
| Terf2ip |
G |
T |
8: 112,738,052 (GRCm39) |
|
probably benign |
Het |
| Tm6sf2 |
G |
A |
8: 70,528,656 (GRCm39) |
R136K |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,764,886 (GRCm39) |
L858P |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,626,770 (GRCm39) |
D1466G |
possibly damaging |
Het |
| Trip4 |
A |
T |
9: 65,764,627 (GRCm39) |
L446Q |
probably damaging |
Het |
| Trpv3 |
G |
T |
11: 73,168,818 (GRCm39) |
V93L |
probably benign |
Het |
| Ubl4b |
A |
T |
3: 107,461,962 (GRCm39) |
H99Q |
probably damaging |
Het |
| Unc45a |
A |
T |
7: 79,979,569 (GRCm39) |
|
probably null |
Het |
| Vmn1r47 |
G |
T |
6: 89,999,335 (GRCm39) |
A156S |
probably damaging |
Het |
| Vmn2r33 |
T |
A |
7: 7,566,896 (GRCm39) |
H72L |
probably benign |
Het |
| Zeb1 |
G |
A |
18: 5,767,867 (GRCm39) |
V793M |
possibly damaging |
Het |
| Zfp628 |
C |
A |
7: 4,924,063 (GRCm39) |
Q762K |
probably benign |
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 |
|
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'- TAATAATGAAGTGTCCCCTGGCC -3'
(R):5'- GCTTTCAGGCAAAATTGAAGGTC -3'
Sequencing Primer
(F):5'- CTGGCCTGGCTTTCAGC -3'
(R):5'- GGTCTACGAAGGCCTTGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation