Mutagenetix > Incidental Mutation

Incidental Mutation 'R4911:Arhgef5'

379518

Institutional Source

Beutler Lab

Gene Symbol

Arhgef5

Ensembl Gene

ENSMUSG00000033542

Gene Name

Rho guanine nucleotide exchange factor (GEF) 5

Synonyms

2210412D05Rik

MMRRC Submission

042513-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43265582-43289320 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43272828 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 171 (D171G)

Ref Sequence

ENSEMBL: ENSMUSP00000031750 (fasta)

Gene Model

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

AlphaFold

E9Q7D5

Predicted Effect

probably benign
Transcript: ENSMUST00000031750
AA Change: D171G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: D171G

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

0.0861

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

97% (149/153)

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: 132 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,170,939		probably null	Het
4430402I18Rik	G	A	19: 28,897,503		probably benign	Het
Aacs	A	G	5: 125,506,160	D260G	possibly damaging	Het
Aadacl4	T	A	4: 144,613,792	L29H	probably damaging	Het
Abca7	T	C	10: 80,012,188		probably null	Het
Adgre1	G	A	17: 57,447,832	M643I	possibly damaging	Het
Adgrl2	A	T	3: 148,890,463	M79K	probably damaging	Het
Ankrd55	T	A	13: 112,323,039		probably null	Het
Arhgap21	A	G	2: 20,858,989	I1257T	probably damaging	Het
Arhgap26	T	A	18: 38,993,637		probably benign	Het
Arhgap39	A	G	15: 76,737,805	S199P	probably damaging	Het
Atp7a	T	C	X: 106,120,374	V1305A	probably damaging	Het
B3gnt3	T	A	8: 71,692,934	R263S	probably benign	Het
B9d1	A	C	11: 61,507,671	D59A	probably benign	Het
Bag2	A	T	1: 33,748,276	I55N	probably benign	Het
Bank1	T	C	3: 136,284,243	I29V	probably benign	Het
Bbs2	A	T	8: 94,089,115	D174E	probably damaging	Het
Bmp8b	T	C	4: 123,115,237	W203R	probably damaging	Het
Cacnb2	A	T	2: 14,981,340	E359D	possibly damaging	Het
Camp	T	A	9: 109,847,583		probably null	Het
Casp4	C	T	9: 5,328,580		probably benign	Het
Ccdc110	A	T	8: 45,942,907	T612S	probably benign	Het
Cd209b	T	A	8: 3,926,640		probably null	Het
Cemip	T	C	7: 83,983,253	D367G	probably damaging	Het
Cers5	T	A	15: 99,747,079	N131I	probably damaging	Het
Chd5	T	G	4: 152,360,672	V370G	probably damaging	Het
Cipc	C	A	12: 86,952,757	Q20K	probably benign	Het
Cnr2	T	A	4: 135,917,201	F197I	possibly damaging	Het
Col7a1	G	A	9: 108,975,219	G2233S	unknown	Het
Dcdc2b	T	A	4: 129,611,267	I125F	possibly damaging	Het
Ddi2	A	G	4: 141,684,402	S400P	probably benign	Het
Ddx31	C	A	2: 28,904,684	T664K	probably benign	Het
Dhx30	C	A	9: 110,100,924	G35C	probably damaging	Het
Dmxl2	G	A	9: 54,411,653	T1576I	probably damaging	Het
Dnah1	T	C	14: 31,295,323	Y1510C	probably damaging	Het
Dnah2	C	T	11: 69,499,104		probably null	Het
Dock10	C	A	1: 80,606,236	G163C	probably damaging	Het
Edar	T	C	10: 58,621,324	N144S	probably benign	Het
Elavl2	T	A	4: 91,308,678	E54D	possibly damaging	Het
Enam	T	G	5: 88,502,314	S561A	probably benign	Het
Ercc5	C	A	1: 44,166,871	H315N	possibly damaging	Het
Esp31	A	G	17: 38,644,661	E65G	possibly damaging	Het
Faap100	T	C	11: 120,372,113	I806M	probably benign	Het
Fam159a	T	C	4: 108,377,461	T70A	probably benign	Het
Fbxw21	T	C	9: 109,145,663	Y263C	probably damaging	Het
Fsip2	T	A	2: 82,981,493	S2719T	possibly damaging	Het
Fv1	T	C	4: 147,869,418	V147A	probably benign	Het
Gal	T	C	19: 3,411,590	E65G	probably benign	Het
Galnt6	T	C	15: 100,716,178	T81A	probably benign	Het
Gcc2	A	G	10: 58,270,439	E399G	probably damaging	Het
Gfi1b	A	T	2: 28,610,102	C306S	probably damaging	Het
Gm10654	T	A	8: 70,931,852		noncoding transcript	Het
Gm20388	A	G	8: 123,080,604		probably benign	Het
Gm4788	T	G	1: 139,774,563	D61A	probably damaging	Het
Gm4953	T	A	1: 159,168,359		noncoding transcript	Het
Gorasp2	T	C	2: 70,688,339		probably benign	Het
Gse1	T	C	8: 120,568,466		probably benign	Het
H2-D1	A	G	17: 35,265,997	E278G	probably damaging	Het
Herc2	T	C	7: 56,227,892	L4569P	probably damaging	Het
Hgs	T	A	11: 120,477,202	S246T	probably damaging	Het
Hs2st1	T	C	3: 144,465,082	T110A	probably benign	Het
Hydin	A	G	8: 110,595,438	Y4574C	probably benign	Het
Ighv1-23	C	A	12: 114,764,752	V17F	possibly damaging	Het
Ighv8-14	A	T	12: 115,808,565		noncoding transcript	Het
Igsf21	C	T	4: 140,034,623	R248H	probably benign	Het
Il23r	T	C	6: 67,423,561	N595S	probably benign	Het
Il5ra	G	T	6: 106,715,668	P372Q	probably damaging	Het
Iltifb	T	C	10: 118,294,989	M1V	probably null	Het
Inppl1	A	G	7: 101,832,309	V222A	possibly damaging	Het
Ints10	T	C	8: 68,827,312	V697A	probably damaging	Het
Isg15	T	A	4: 156,199,760	T104S	probably benign	Het
Kif11	A	G	19: 37,417,937	T983A	probably benign	Het
Kif3b	A	T	2: 153,317,292	K338*	probably null	Het
Kpna2	T	A	11: 106,990,719	I362F	probably damaging	Het
Lama2	G	A	10: 27,138,927	T1595M	probably damaging	Het
Lrrc36	A	G	8: 105,426,935	T126A	probably benign	Het
Lrrk1	T	A	7: 66,295,454	D604V	probably damaging	Het
Map7d1	T	C	4: 126,236,691	K409E	probably damaging	Het
Mast2	T	C	4: 116,353,057	T110A	probably benign	Het
Micall2	G	A	5: 139,716,825	T221M	probably damaging	Het
Morc2b	T	A	17: 33,137,377	N474Y	probably damaging	Het
Myo1e	T	A	9: 70,343,096	M528K	probably benign	Het
Nlrp1c-ps	G	T	11: 71,260,369		noncoding transcript	Het
Nostrin	T	C	2: 69,161,142	S160P	possibly damaging	Het
Nup133	T	C	8: 123,927,131	R530G	possibly damaging	Het
Olfr452	T	A	6: 42,790,204	L55H	probably damaging	Het
Olfr488	T	C	7: 108,256,037	I34V	possibly damaging	Het
Olfr894	A	G	9: 38,219,096	E91G	probably damaging	Het
Pabpc4l	A	T	3: 46,446,162	M349K	possibly damaging	Het
Pah	G	A	10: 87,570,267	G256S	probably benign	Het
Park2	G	T	17: 10,840,472		probably benign	Het
Pigk	T	C	3: 152,740,204	S151P	probably damaging	Het
Plcd4	A	C	1: 74,564,413	T658P	possibly damaging	Het
Pld4	A	T	12: 112,764,517	S178C	probably benign	Het
Polr1a	G	A	6: 71,909,229	E23K	possibly damaging	Het
Pomt1	T	C	2: 32,241,679	S127P	probably damaging	Het
Pon2	A	G	6: 5,269,029	V215A	possibly damaging	Het
Ppp3cb	A	T	14: 20,509,440	M416K	probably damaging	Het
Prdm1	A	T	10: 44,442,052	N273K	possibly damaging	Het
Prg4	T	A	1: 150,455,823		probably benign	Het
Ptch1	G	A	13: 63,523,052	T888M	probably damaging	Het
Pusl1	T	G	4: 155,891,442		probably benign	Het
Rapgef6	A	T	11: 54,622,317	E122D	probably damaging	Het
Rif1	C	T	2: 52,110,518	T1328I	probably damaging	Het
Rngtt	T	G	4: 33,500,292		probably null	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Samd1	A	G	8: 83,998,989		probably benign	Het
Scamp5	A	T	9: 57,451,452	F14I	probably damaging	Het
Shank3	C	T	15: 89,504,344	R380C	probably damaging	Het
Slc1a4	C	A	11: 20,332,166	A103S	probably damaging	Het
Slc39a14	A	G	14: 70,309,922	V325A	probably benign	Het
Slc5a9	C	A	4: 111,891,744		probably null	Het
Spta1	T	A	1: 174,185,647	S375T	probably damaging	Het
Sval1	A	G	6: 41,955,444	N76S	probably benign	Het
Synpo	C	T	18: 60,629,864		probably benign	Het
Sytl5	C	T	X: 9,915,602	P181L	possibly damaging	Het
Tacc1	A	G	8: 25,182,606	M111T	possibly damaging	Het
Tec	T	C	5: 72,756,351	D613G	probably benign	Het
Tecpr2	C	T	12: 110,931,487	T391I	possibly damaging	Het
Thop1	G	A	10: 81,073,291	G52D	probably damaging	Het
Tmco5	T	A	2: 116,892,208	V270D	possibly damaging	Het
Ttn	C	T	2: 76,726,629	E28265K	possibly damaging	Het
Tuft1	T	C	3: 94,635,443	D72G	probably damaging	Het
Tyrp1	C	T	4: 80,850,907		probably benign	Het
Usp9y	T	C	Y: 1,308,041	D2265G	probably damaging	Het
Vmn2r104	G	A	17: 20,030,026	A661V	probably benign	Het
Vwa5a	A	T	9: 38,737,972	N672I	probably benign	Het
Wdr95	A	T	5: 149,611,692	K772*	probably null	Het
Ybx1	T	C	4: 119,282,813	T106A	probably benign	Het
Ypel3	T	C	7: 126,777,789	S14P	probably benign	Het
Zfp518a	T	A	19: 40,915,528	S1300R	probably benign	Het
Zscan5b	A	T	7: 6,239,190	*469Y	probably null	Het

Other mutations in Arhgef5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Arhgef5	APN	6	43280269	nonsense	probably null
IGL01341:Arhgef5	APN	6	43283991	missense	probably damaging	1.00
IGL01576:Arhgef5	APN	6	43274028	missense	probably benign	0.38
IGL01761:Arhgef5	APN	6	43274604	missense	probably benign	0.00
IGL02104:Arhgef5	APN	6	43272411	missense	probably damaging	0.99
IGL02208:Arhgef5	APN	6	43275130	missense	probably benign	0.11
IGL02487:Arhgef5	APN	6	43283982	missense	probably damaging	1.00
IGL02650:Arhgef5	APN	6	43272935	nonsense	probably null
IGL03292:Arhgef5	APN	6	43280246	missense	probably damaging	1.00
IGL03334:Arhgef5	APN	6	43274000	missense	possibly damaging	0.47
IGL03341:Arhgef5	APN	6	43280651	missense	probably damaging	0.99
R0047:Arhgef5	UTSW	6	43265621	splice site	probably null
R0206:Arhgef5	UTSW	6	43273341	missense	probably damaging	1.00
R0208:Arhgef5	UTSW	6	43273341	missense	probably damaging	1.00
R0698:Arhgef5	UTSW	6	43273341	missense	probably damaging	1.00
R1145:Arhgef5	UTSW	6	43273088	missense	possibly damaging	0.92
R1145:Arhgef5	UTSW	6	43273088	missense	possibly damaging	0.92
R1168:Arhgef5	UTSW	6	43273396	missense	probably benign	0.00
R1355:Arhgef5	UTSW	6	43283912	missense	probably damaging	1.00
R1370:Arhgef5	UTSW	6	43283912	missense	probably damaging	1.00
R1481:Arhgef5	UTSW	6	43274634	missense	probably damaging	0.99
R1529:Arhgef5	UTSW	6	43279515	missense	probably damaging	0.96
R1532:Arhgef5	UTSW	6	43273403	missense	probably benign
R1663:Arhgef5	UTSW	6	43276965	missense	probably damaging	1.00
R1742:Arhgef5	UTSW	6	43280199	missense	probably damaging	1.00
R1852:Arhgef5	UTSW	6	43275185	missense	probably benign	0.00
R1869:Arhgef5	UTSW	6	43288682	missense	probably damaging	1.00
R1880:Arhgef5	UTSW	6	43273088	missense	possibly damaging	0.92
R2146:Arhgef5	UTSW	6	43283318	missense	probably damaging	1.00
R2169:Arhgef5	UTSW	6	43274420	missense	probably benign	0.11
R3412:Arhgef5	UTSW	6	43273790	missense	probably benign
R4205:Arhgef5	UTSW	6	43273832	missense	possibly damaging	0.76
R4226:Arhgef5	UTSW	6	43279498	missense	probably damaging	1.00
R4227:Arhgef5	UTSW	6	43279498	missense	probably damaging	1.00
R4304:Arhgef5	UTSW	6	43279498	missense	probably damaging	1.00
R4308:Arhgef5	UTSW	6	43279498	missense	probably damaging	1.00
R4457:Arhgef5	UTSW	6	43274093	missense	probably damaging	1.00
R4469:Arhgef5	UTSW	6	43275099	missense	probably benign
R4636:Arhgef5	UTSW	6	43274942	missense	probably benign	0.11
R4791:Arhgef5	UTSW	6	43283183	missense	probably damaging	1.00
R4818:Arhgef5	UTSW	6	43273550	missense	probably benign	0.00
R4910:Arhgef5	UTSW	6	43272828	missense	probably benign	0.01
R5127:Arhgef5	UTSW	6	43273214	missense	probably damaging	0.99
R5209:Arhgef5	UTSW	6	43273700	missense	probably benign	0.01
R5245:Arhgef5	UTSW	6	43265680	start gained	probably benign
R5251:Arhgef5	UTSW	6	43272881	missense	possibly damaging	0.76
R5513:Arhgef5	UTSW	6	43272339	missense	probably damaging	0.96
R5613:Arhgef5	UTSW	6	43274063	missense	probably benign	0.01
R5616:Arhgef5	UTSW	6	43275940	missense	probably benign	0.20
R5817:Arhgef5	UTSW	6	43275104	missense	probably benign	0.15
R6024:Arhgef5	UTSW	6	43275134	missense	probably benign	0.00
R6735:Arhgef5	UTSW	6	43275032	missense	probably benign	0.01
R6825:Arhgef5	UTSW	6	43274961	missense	probably damaging	0.99
R6831:Arhgef5	UTSW	6	43280999	missense	probably damaging	1.00
R6901:Arhgef5	UTSW	6	43273298	missense	probably benign	0.00
R6932:Arhgef5	UTSW	6	43274417	missense	possibly damaging	0.94
R6968:Arhgef5	UTSW	6	43275342	missense	probably benign	0.00
R7018:Arhgef5	UTSW	6	43288731	missense	probably damaging	1.00
R7180:Arhgef5	UTSW	6	43275208	missense	possibly damaging	0.87
R7201:Arhgef5	UTSW	6	43273232	nonsense	probably null
R7358:Arhgef5	UTSW	6	43279573	missense	probably damaging	1.00
R7359:Arhgef5	UTSW	6	43280282	missense	probably damaging	1.00
R7468:Arhgef5	UTSW	6	43280671	nonsense	probably null
R7503:Arhgef5	UTSW	6	43273999	missense	probably benign	0.15
R7699:Arhgef5	UTSW	6	43274757	missense	probably benign	0.11
R7700:Arhgef5	UTSW	6	43274757	missense	probably benign	0.11
R7737:Arhgef5	UTSW	6	43273794	missense	possibly damaging	0.84
R7847:Arhgef5	UTSW	6	43275135	nonsense	probably null
R7950:Arhgef5	UTSW	6	43273925	missense	possibly damaging	0.76
R8161:Arhgef5	UTSW	6	43283951	missense	probably damaging	1.00
R8178:Arhgef5	UTSW	6	43275185	missense	probably benign	0.00
R8203:Arhgef5	UTSW	6	43280645	missense	probably damaging	1.00
R8318:Arhgef5	UTSW	6	43275999	critical splice donor site	probably null
R8857:Arhgef5	UTSW	6	43287624	missense	probably damaging	1.00
R9499:Arhgef5	UTSW	6	43284006	missense
R9610:Arhgef5	UTSW	6	43280956	missense	probably damaging	0.99
R9611:Arhgef5	UTSW	6	43280956	missense	probably damaging	0.99
R9623:Arhgef5	UTSW	6	43274802	missense	possibly damaging	0.86
R9685:Arhgef5	UTSW	6	43273593	missense	probably benign	0.11
RF023:Arhgef5	UTSW	6	43279473	missense	probably damaging	1.00
X0028:Arhgef5	UTSW	6	43273701	missense	probably benign	0.03
X0065:Arhgef5	UTSW	6	43272408	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGTCAAGAACAATAGCTGCCCC -3'
(R):5'- ATGCCTTCGTTCAGAGTTCC -3'

Sequencing Primer
(F):5'- AATAGCTGCCCCTGAGCTC -3'
(R):5'- AGAGTTCCTTCCTCCTGAATTTCTAC -3'

Posted On

2016-04-15