Incidental Mutation 'R7359:Arhgef5'
ID |
571181 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef5
|
Ensembl Gene |
ENSMUSG00000033542 |
Gene Name |
Rho guanine nucleotide exchange factor 5 |
Synonyms |
2210412D05Rik |
MMRRC Submission |
045445-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7359 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
43242578-43266254 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 43257216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 1256
(T1256P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031750]
|
AlphaFold |
E9Q7D5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031750
AA Change: T1256P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031750 Gene: ENSMUSG00000033542 AA Change: T1256P
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: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
99% (87/88) |
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,236,348 (GRCm39) |
V1233A |
possibly damaging |
Het |
Abcc9 |
G |
A |
6: 142,617,408 (GRCm39) |
T552I |
probably damaging |
Het |
Adgrf4 |
T |
C |
17: 42,978,003 (GRCm39) |
I447V |
possibly damaging |
Het |
Akirin2 |
T |
A |
4: 34,565,944 (GRCm39) |
D178E |
probably damaging |
Het |
Arhgap12 |
T |
C |
18: 6,065,709 (GRCm39) |
E359G |
possibly damaging |
Het |
Avpr1a |
A |
C |
10: 122,285,283 (GRCm39) |
I192L |
possibly damaging |
Het |
B4galnt4 |
A |
G |
7: 140,651,197 (GRCm39) |
H926R |
probably damaging |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
Ccdc68 |
C |
T |
18: 70,089,123 (GRCm39) |
A222V |
probably benign |
Het |
Cdc23 |
T |
C |
18: 34,774,394 (GRCm39) |
Y295C |
probably benign |
Het |
Ceacam10 |
T |
C |
7: 24,480,432 (GRCm39) |
Y188H |
unknown |
Het |
Cfap57 |
T |
A |
4: 118,456,162 (GRCm39) |
T511S |
probably benign |
Het |
Cftr |
T |
C |
6: 18,221,623 (GRCm39) |
V245A |
probably benign |
Het |
Cit |
A |
G |
5: 116,064,633 (GRCm39) |
D505G |
probably damaging |
Het |
Cmah |
T |
G |
13: 24,652,539 (GRCm39) |
N556K |
probably benign |
Het |
Cspg4b |
T |
C |
13: 113,478,964 (GRCm39) |
S1503P |
|
Het |
D430041D05Rik |
C |
A |
2: 104,044,482 (GRCm39) |
D839Y |
probably damaging |
Het |
Dek |
T |
C |
13: 47,259,065 (GRCm39) |
D47G |
unknown |
Het |
Des |
C |
T |
1: 75,337,596 (GRCm39) |
R179C |
probably damaging |
Het |
Desi2 |
A |
G |
1: 178,015,509 (GRCm39) |
N10D |
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,214,615 (GRCm39) |
N679S |
probably damaging |
Het |
Dnajc24 |
T |
C |
2: 105,832,293 (GRCm39) |
Y30C |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,687,065 (GRCm39) |
H34L |
probably benign |
Het |
Dock5 |
A |
G |
14: 68,003,337 (GRCm39) |
V1586A |
probably benign |
Het |
Dpy19l4 |
A |
G |
4: 11,273,125 (GRCm39) |
V576A |
probably benign |
Het |
Dusp6 |
A |
G |
10: 99,099,927 (GRCm39) |
E125G |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,591,036 (GRCm39) |
Y1035H |
probably benign |
Het |
Dysf |
G |
A |
6: 84,172,306 (GRCm39) |
|
probably null |
Het |
En1 |
A |
G |
1: 120,534,817 (GRCm39) |
K369E |
unknown |
Het |
F2r |
A |
G |
13: 95,741,194 (GRCm39) |
Y114H |
probably damaging |
Het |
Fam184a |
T |
C |
10: 53,575,318 (GRCm39) |
Y97C |
probably damaging |
Het |
Fggy |
T |
C |
4: 95,657,717 (GRCm39) |
V286A |
probably benign |
Het |
Flot2 |
T |
C |
11: 77,949,383 (GRCm39) |
I322T |
probably benign |
Het |
Fndc1 |
A |
T |
17: 8,032,318 (GRCm39) |
|
probably null |
Het |
Frs3 |
A |
G |
17: 48,010,450 (GRCm39) |
D28G |
probably damaging |
Het |
Gimap3 |
C |
T |
6: 48,742,280 (GRCm39) |
D217N |
probably benign |
Het |
Gm128 |
A |
G |
3: 95,147,934 (GRCm39) |
V120A |
probably benign |
Het |
Gm17190 |
T |
C |
13: 96,218,970 (GRCm39) |
V102A |
probably damaging |
Het |
Gm17268 |
A |
G |
11: 81,919,057 (GRCm39) |
V20A |
unknown |
Het |
Grsf1 |
A |
T |
5: 88,813,423 (GRCm39) |
|
probably null |
Het |
Hmcn2 |
A |
T |
2: 31,278,395 (GRCm39) |
Y1699F |
probably benign |
Het |
Hnmt |
T |
A |
2: 23,938,731 (GRCm39) |
M36L |
probably benign |
Het |
Hoxd1 |
C |
A |
2: 74,594,447 (GRCm39) |
T234K |
probably damaging |
Het |
Hydin |
C |
G |
8: 111,232,733 (GRCm39) |
S1679R |
probably damaging |
Het |
Jag1 |
T |
C |
2: 136,926,226 (GRCm39) |
R1059G |
probably benign |
Het |
Kbtbd11 |
T |
C |
8: 15,078,858 (GRCm39) |
W486R |
probably damaging |
Het |
Kcnh6 |
A |
G |
11: 105,909,789 (GRCm39) |
D438G |
possibly damaging |
Het |
Lgals4 |
T |
G |
7: 28,540,724 (GRCm39) |
F276V |
probably benign |
Het |
Lrp6 |
G |
T |
6: 134,427,923 (GRCm39) |
Y1556* |
probably null |
Het |
Mpdz |
G |
A |
4: 81,274,632 (GRCm39) |
L855F |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,554,316 (GRCm39) |
D3992E |
unknown |
Het |
Npc1 |
T |
C |
18: 12,328,237 (GRCm39) |
N1024S |
probably benign |
Het |
Nsfl1c |
A |
G |
2: 151,336,279 (GRCm39) |
T18A |
probably benign |
Het |
Or12e8 |
T |
A |
2: 87,188,555 (GRCm39) |
L256I |
possibly damaging |
Het |
Or12k5 |
A |
T |
2: 36,895,449 (GRCm39) |
M59K |
probably damaging |
Het |
Or2g7 |
G |
A |
17: 38,378,506 (GRCm39) |
W148* |
probably null |
Het |
Or8g31-ps1 |
T |
C |
9: 39,276,775 (GRCm39) |
*307R |
probably null |
Het |
Pcdh15 |
A |
T |
10: 74,420,048 (GRCm39) |
K1235N |
probably damaging |
Het |
Pcif1 |
A |
G |
2: 164,726,251 (GRCm39) |
K51E |
probably damaging |
Het |
Pde1b |
G |
A |
15: 103,429,752 (GRCm39) |
D82N |
probably damaging |
Het |
Phf23 |
T |
A |
11: 69,889,467 (GRCm39) |
V167E |
possibly damaging |
Het |
Pik3c2g |
T |
C |
6: 139,913,620 (GRCm39) |
V1006A |
unknown |
Het |
Pira12 |
T |
A |
7: 3,901,103 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
G |
T |
15: 44,452,882 (GRCm39) |
V3936F |
probably damaging |
Het |
Pnpla1 |
T |
C |
17: 29,100,159 (GRCm39) |
V342A |
probably benign |
Het |
Ppip5k1 |
T |
C |
2: 121,171,329 (GRCm39) |
D620G |
possibly damaging |
Het |
Ppl |
A |
G |
16: 4,907,205 (GRCm39) |
L1030P |
possibly damaging |
Het |
Prelid1 |
A |
T |
13: 55,469,088 (GRCm39) |
|
probably benign |
Het |
Racgap1 |
C |
T |
15: 99,529,081 (GRCm39) |
S264N |
probably benign |
Het |
Rdh13 |
T |
C |
7: 4,430,696 (GRCm39) |
D289G |
probably benign |
Het |
Rtp3 |
T |
C |
9: 110,815,364 (GRCm39) |
I334V |
probably benign |
Het |
Setd2 |
A |
T |
9: 110,392,012 (GRCm39) |
D200V |
|
Het |
Simc1 |
A |
G |
13: 54,651,731 (GRCm39) |
S15G |
unknown |
Het |
Sirpb1c |
A |
T |
3: 15,887,389 (GRCm39) |
M150K |
probably benign |
Het |
Smoc1 |
T |
A |
12: 81,197,475 (GRCm39) |
D202E |
probably damaging |
Het |
Spata31d1b |
A |
G |
13: 59,860,304 (GRCm39) |
Y59C |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,528,761 (GRCm39) |
T1673A |
probably damaging |
Het |
Tbc1d31 |
T |
A |
15: 57,779,504 (GRCm39) |
H72Q |
probably benign |
Het |
Tgfbrap1 |
C |
A |
1: 43,114,693 (GRCm39) |
V136L |
probably damaging |
Het |
Top2b |
A |
G |
14: 16,407,376 (GRCm38) |
N720S |
probably null |
Het |
Vmn1r11 |
T |
C |
6: 57,115,184 (GRCm39) |
S283P |
probably damaging |
Het |
Vmn1r19 |
A |
G |
6: 57,382,080 (GRCm39) |
H211R |
probably damaging |
Het |
Vmn2r44 |
A |
T |
7: 8,370,538 (GRCm39) |
M836K |
probably benign |
Het |
Vmn2r61 |
A |
C |
7: 41,915,407 (GRCm39) |
H118P |
probably benign |
Het |
Vps33a |
A |
G |
5: 123,696,696 (GRCm39) |
I319T |
probably benign |
Het |
Vwf |
T |
A |
6: 125,543,220 (GRCm39) |
S151T |
|
Het |
Zfp423 |
T |
C |
8: 88,508,871 (GRCm39) |
N491S |
possibly damaging |
Het |
Zfp626 |
T |
C |
7: 27,507,660 (GRCm39) |
F23S |
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 |
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 |
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'- AGGACTCAGACAGATGCTGG -3'
(R):5'- AGGAGAATCCATGTACAGGGTCC -3'
Sequencing Primer
(F):5'- CTCAGACAGATGCTGGGCTGAG -3'
(R):5'- TCCATGTACAGGGTCCAGATATGAC -3'
|
Posted On |
2019-09-13 |