Mutagenetix > Incidental Mutation

Incidental Mutation 'R0047:Arhgef5'

261872

Institutional Source

Beutler Lab

Gene Symbol

Arhgef5

Ensembl Gene

ENSMUSG00000033542

Gene Name

Rho guanine nucleotide exchange factor (GEF) 5

Synonyms

2210412D05Rik

MMRRC Submission

038341-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0047 (G1)

Quality Score

208

Status

Not validated

Chromosome

Chromosomal Location

43265582-43289320 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 43265621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031750]

AlphaFold

E9Q7D5

Predicted Effect

probably null
Transcript: ENSMUST00000031750

SMART Domains

Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542

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

noncoding transcript
Transcript: ENSMUST00000203086

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (98/98)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,066,264 (GRCm38)	T405A	probably damaging	Het
Acer1	A	T	17: 56,955,624 (GRCm38)	D175E	possibly damaging	Het
Acsf2	T	C	11: 94,569,342 (GRCm38)	I395V	probably benign	Het
Adamts9	G	A	6: 92,905,306 (GRCm38)		probably benign	Het
Amigo3	T	C	9: 108,054,658 (GRCm38)	S427P	probably benign	Het
Ankrd35	A	G	3: 96,684,063 (GRCm38)	K555R	probably benign	Het
Arhgap35	A	T	7: 16,561,992 (GRCm38)	H1049Q	probably benign	Het
Arid4a	T	G	12: 71,075,419 (GRCm38)	L858W	probably damaging	Het
Bbox1	A	G	2: 110,268,302 (GRCm38)	F310S	probably damaging	Het
Bhlhe22	T	C	3: 18,055,569 (GRCm38)	L261P	probably damaging	Het
Bltp1	T	A	3: 36,908,192 (GRCm38)	L481M	possibly damaging	Het
Bmper	T	A	9: 23,406,686 (GRCm38)	C534S	probably damaging	Het
Cacna1d	T	G	14: 30,346,790 (GRCm38)		probably benign	Het
Camk2g	G	A	14: 20,771,068 (GRCm38)		probably benign	Het
Capn12	G	A	7: 28,890,387 (GRCm38)		probably null	Het
Cdkl4	T	G	17: 80,550,845 (GRCm38)	N115T	probably benign	Het
Chchd1	T	C	14: 20,704,163 (GRCm38)	S48P	possibly damaging	Het
Chia1	G	T	3: 106,115,257 (GRCm38)	C49F	probably damaging	Het
Cnot7	A	G	8: 40,495,921 (GRCm38)		probably benign	Het
Crh	T	C	3: 19,694,037 (GRCm38)	E147G	probably damaging	Het
Cux1	T	C	5: 136,363,253 (GRCm38)		probably benign	Het
Cyp2b19	T	A	7: 26,766,826 (GRCm38)	D351E	probably benign	Het
Dctn1	G	T	6: 83,182,632 (GRCm38)	G31*	probably null	Het
Duox1	T	A	2: 122,346,641 (GRCm38)		probably benign	Het
Egflam	T	G	15: 7,253,430 (GRCm38)	E382A	possibly damaging	Het
Ext1	T	C	15: 53,345,146 (GRCm38)	N73S	probably benign	Het
Ffar4	A	G	19: 38,114,004 (GRCm38)		probably benign	Het
Glg1	A	T	8: 111,165,582 (GRCm38)	M866K	probably damaging	Het
Golm1	T	A	13: 59,645,100 (GRCm38)	H197L	probably benign	Het
Gtse1	A	G	15: 85,862,378 (GRCm38)	K132E	probably damaging	Het
Gxylt2	A	T	6: 100,733,378 (GRCm38)		probably benign	Het
Hrc	T	A	7: 45,336,689 (GRCm38)	S421R	probably benign	Het
Ighg2c	T	A	12: 113,288,168 (GRCm38)		probably benign	Het
Ihh	A	G	1: 74,946,591 (GRCm38)	I245T	probably benign	Het
Ilf3	T	A	9: 21,388,714 (GRCm38)	M65K	possibly damaging	Het
Insr	A	G	8: 3,202,947 (GRCm38)	V404A	probably damaging	Het
Irak2	G	A	6: 113,678,738 (GRCm38)	V367I	probably benign	Het
Irak2	G	T	6: 113,672,953 (GRCm38)		probably benign	Het
Kat7	A	C	11: 95,300,208 (GRCm38)	N119K	probably benign	Het
Kif9	A	G	9: 110,485,038 (GRCm38)	I33V	probably benign	Het
Klf17	A	G	4: 117,761,032 (GRCm38)	Y43H	probably benign	Het
Kng2	T	A	16: 22,987,563 (GRCm38)	T629S	possibly damaging	Het
Lama1	A	T	17: 67,795,186 (GRCm38)		probably benign	Het
Lamb1	T	C	12: 31,278,601 (GRCm38)	I188T	possibly damaging	Het
Lpp	T	A	16: 24,661,800 (GRCm38)		probably benign	Het
Lrp12	T	C	15: 39,878,239 (GRCm38)	E360G	probably damaging	Het
Mark2	A	C	19: 7,283,577 (GRCm38)		probably benign	Het
Mmp3	T	C	9: 7,451,910 (GRCm38)		probably benign	Het
Mthfd1l	T	A	10: 3,978,727 (GRCm38)		probably benign	Het
Mtr	A	T	13: 12,222,226 (GRCm38)	S569T	probably damaging	Het
Myh13	T	A	11: 67,367,237 (GRCm38)	S1752T	probably benign	Het
Myo5a	T	A	9: 75,156,207 (GRCm38)	L565H	probably damaging	Het
Nanos3	C	T	8: 84,176,134 (GRCm38)	R133Q	probably damaging	Het
Nfkb1	A	T	3: 135,595,053 (GRCm38)	L72*	probably null	Het
Numa1	A	G	7: 102,009,453 (GRCm38)	K296E	probably damaging	Het
Or51ab3	A	T	7: 103,552,322 (GRCm38)	Y179F	probably damaging	Het
Or5ac19	C	T	16: 59,269,211 (GRCm38)	G152D	probably damaging	Het
Or5b120	A	G	19: 13,502,589 (GRCm38)	E82G	probably benign	Het
Or5h18	T	A	16: 59,027,224 (GRCm38)	M228L	probably benign	Het
Or5p80	A	G	7: 108,630,552 (GRCm38)	I187V	probably benign	Het
Pcdhb5	A	T	18: 37,321,268 (GRCm38)	I234F	possibly damaging	Het
Pgm5	T	A	19: 24,684,556 (GRCm38)	I545F	probably damaging	Het
Pla2g2c	T	C	4: 138,743,590 (GRCm38)		probably benign	Het
Pnpla7	A	T	2: 25,011,606 (GRCm38)	E548V	probably damaging	Het
Ppm1m	C	A	9: 106,196,696 (GRCm38)	E273*	probably null	Het
Ppp2r1b	C	T	9: 50,861,573 (GRCm38)	R117*	probably null	Het
Rabgap1l	G	A	1: 160,231,789 (GRCm38)		probably benign	Het
Rapgef6	T	A	11: 54,546,378 (GRCm38)	M49K	possibly damaging	Het
Rhox4f	A	C	X: 37,607,469 (GRCm38)	V15G	probably benign	Het
Rnf219	T	A	14: 104,503,344 (GRCm38)		probably null	Het
Rtel1	T	G	2: 181,323,405 (GRCm38)	I146M	probably damaging	Het
Sdr9c7	A	T	10: 127,903,672 (GRCm38)	M219L	probably benign	Het
Serpina3g	T	A	12: 104,240,284 (GRCm38)	S115T	possibly damaging	Het
Serpinb1a	A	T	13: 32,850,276 (GRCm38)	L44Q	probably damaging	Het
Slc13a4	A	G	6: 35,287,362 (GRCm38)	I190T	possibly damaging	Het
Slc46a2	A	G	4: 59,914,392 (GRCm38)	L177P	probably damaging	Het
Slc47a2	C	T	11: 61,336,242 (GRCm38)	V167M	possibly damaging	Het
Snrnp200	C	T	2: 127,234,954 (GRCm38)		probably benign	Het
Snx13	C	A	12: 35,101,124 (GRCm38)		probably benign	Het
Snx25	C	T	8: 46,041,365 (GRCm38)	A828T	probably damaging	Het
Spic	A	G	10: 88,675,941 (GRCm38)	L151P	probably damaging	Het
Ssu2	G	A	6: 112,374,820 (GRCm38)	H315Y	probably damaging	Het
Stk32a	T	C	18: 43,313,378 (GRCm38)		probably benign	Het
Tbx3	A	T	5: 119,680,446 (GRCm38)	E382V	probably damaging	Het
Tcaf2	A	G	6: 42,629,613 (GRCm38)	I469T	probably benign	Het
Tln2	A	G	9: 67,240,672 (GRCm38)		probably benign	Het
Top2a	T	A	11: 98,997,856 (GRCm38)	I1260L	probably benign	Het
Treml1	C	A	17: 48,364,980 (GRCm38)	S91*	probably null	Het
Trim26	T	C	17: 36,857,864 (GRCm38)		probably benign	Het
Trmt11	T	C	10: 30,535,243 (GRCm38)	N418S	probably benign	Het
Ttf1	A	G	2: 29,084,655 (GRCm38)	Y801C	probably damaging	Het
Usp34	C	T	11: 23,464,403 (GRCm38)	A2782V	probably benign	Het
Vmn2r77	T	C	7: 86,811,650 (GRCm38)	V728A	probably benign	Het
Vps4a	T	C	8: 107,036,701 (GRCm38)	L29P	probably damaging	Het
Wdfy3	A	G	5: 101,944,033 (GRCm38)	I480T	probably damaging	Het
Wdr41	A	G	13: 95,010,287 (GRCm38)	I197V	probably damaging	Het
Ywhag	A	T	5: 135,911,299 (GRCm38)	V147E	probably damaging	Het
Zan	A	G	5: 137,403,656 (GRCm38)	M4058T	unknown	Het
Zfp236	C	T	18: 82,680,692 (GRCm38)	C88Y	probably damaging	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
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
R7180:Arhgef5	UTSW	6	43,275,208 (GRCm38)	missense	possibly damaging	0.87
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

Posted On

2015-02-04