Mutagenetix > Incidental Mutation

Incidental Mutation 'R7468:Arhgef5'

578942

Institutional Source

Beutler Lab

Gene Symbol

Arhgef5

Ensembl Gene

ENSMUSG00000033542

Gene Name

Rho guanine nucleotide exchange factor (GEF) 5

Synonyms

2210412D05Rik

MMRRC Submission

045542-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7468 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43265582-43289320 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 43280671 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 1291 (K1291*)

Ref Sequence

ENSEMBL: ENSMUSP00000031750 (fasta)

Gene Model

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

AlphaFold

E9Q7D5

Predicted Effect

probably null
Transcript: ENSMUST00000031750
AA Change: K1291*

SMART Domains

Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: K1291*

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 null
Transcript: ENSMUST00000182924
AA Change: K559*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (86/88)

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
Abl2	T	G	1: 156,622,534	N90K	possibly damaging	Het
Acox1	T	C	11: 116,178,175	T415A	possibly damaging	Het
Acy1	T	C	9: 106,437,722	M1V	probably null	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Alpk3	C	A	7: 81,100,998	Y1505*	probably null	Het
Ankrd17	T	C	5: 90,243,043	N2256S	probably benign	Het
Ankrd22	C	A	19: 34,149,292	C46F	possibly damaging	Het
Arl9	T	A	5: 77,010,429	Y119*	probably null	Het
Asb14	T	C	14: 26,900,848	V89A	probably benign	Het
Banp	T	G	8: 121,949,849		probably null	Het
BC051142	T	A	17: 34,417,565		probably null	Het
Btn2a2	T	C	13: 23,482,763	N224S	probably benign	Het
C1ra	C	T	6: 124,522,444	Q530*	probably null	Het
C2cd6	A	C	1: 59,068,685	S273A	probably benign	Het
Cd1d2	A	T	3: 86,988,276		probably null	Het
Cdc42bpb	T	C	12: 111,339,873	D132G	probably damaging	Het
Cfap45	C	A	1: 172,535,310	Y289*	probably null	Het
Chrdl2	T	C	7: 100,010,125		probably null	Het
Cst10	C	T	2: 149,405,576	L71F	probably benign	Het
Dcaf11	T	C	14: 55,565,509	F292L	possibly damaging	Het
Dgcr8	A	G	16: 18,259,623	F641S	probably damaging	Het
Dnm3	G	A	1: 162,321,629		probably null	Het
Eral1	T	C	11: 78,075,393	K320E	probably damaging	Het
Eva1a	A	G	6: 82,092,021	T110A	possibly damaging	Het
Fbxo42	A	G	4: 141,199,606	D399G	possibly damaging	Het
Frs2	T	C	10: 117,074,102	T452A	possibly damaging	Het
Git2	T	A	5: 114,733,897	D542V	probably damaging	Het
Gm11639	G	T	11: 104,749,700	S1088I	probably benign	Het
Grk2	T	A	19: 4,306,035		probably benign	Het
Gsg1l2	A	G	11: 67,785,284	N158S	possibly damaging	Het
Hc	T	C	2: 35,028,051	N740S	probably benign	Het
Hectd1	T	C	12: 51,744,805		probably null	Het
Hemk1	A	G	9: 107,331,089		probably null	Het
Hormad2	G	T	11: 4,412,245	Y126*	probably null	Het
Hr	A	G	14: 70,558,212	E399G	possibly damaging	Het
Ick	A	G	9: 78,157,939	K377R	probably benign	Het
Ilf3	C	A	9: 21,403,411	H780N	unknown	Het
Inpp5e	A	T	2: 26,408,149	S147T	probably benign	Het
Jmjd6	T	C	11: 116,842,449	D134G	probably damaging	Het
Kif23	G	T	9: 61,937,175	Y120*	probably null	Het
Klk12	T	A	7: 43,773,356	Y236N	probably damaging	Het
Kmt5b	C	A	19: 3,802,799	Y186*	probably null	Het
Krtap9-5	A	G	11: 99,949,306	T278A	unknown	Het
Lca5	T	A	9: 83,423,456	D99V	probably damaging	Het
Leng9	A	G	7: 4,148,801	V292A	probably benign	Het
Lime1	A	G	2: 181,383,342	R231G	probably benign	Het
Lrmp	C	A	6: 145,173,701		probably null	Het
Mctp2	T	A	7: 72,211,690	E402D	probably damaging	Het
Mrpl28	T	A	17: 26,124,615	S116R	probably damaging	Het
Muc15	A	T	2: 110,731,517	R99S	probably benign	Het
Myh2	G	A	11: 67,192,542	A1444T	probably benign	Het
Mynn	T	A	3: 30,603,676	Y48N	probably damaging	Het
Myo1b	A	T	1: 51,797,480	V274E	possibly damaging	Het
Nemp1	T	A	10: 127,693,054	M209K	possibly damaging	Het
Nlrc4	G	T	17: 74,445,512	D625E	probably benign	Het
Olfr1192-ps1	T	C	2: 88,652,278	L42P	probably damaging	Het
Olfr122	C	T	17: 37,772,019	A122V	probably damaging	Het
Olfr96	T	C	17: 37,225,385	F87L	probably benign	Het
Otog	T	C	7: 46,264,119	V792A	probably benign	Het
Paqr8	T	C	1: 20,935,218	Y199H	probably damaging	Het
Popdc3	A	G	10: 45,315,021	D76G	probably damaging	Het
Ppme1	T	C	7: 100,341,862	N210D	probably benign	Het
Prdm15	A	C	16: 97,835,642	Y158*	probably null	Het
Prrg2	A	T	7: 45,060,263	L70Q	probably benign	Het
Psmg4	C	T	13: 34,177,983	R85W	probably damaging	Het
Rab11fip4	A	T	11: 79,689,652	T437S	probably benign	Het
Rap2a	T	A	14: 120,478,926	M67K	probably damaging	Het
Rnf123	A	T	9: 108,069,009	H322Q	probably benign	Het
Rxfp2	A	T	5: 150,067,336	T521S	possibly damaging	Het
Scrn2	T	G	11: 97,033,166	V292G	possibly damaging	Het
Serpina3n	C	A	12: 104,411,397	P303H	probably benign	Het
Spop	C	T	11: 95,485,901	T260M	probably damaging	Het
Surf2	G	A	2: 26,919,342	G224D	probably benign	Het
Synm	T	G	7: 67,733,223	N669T	unknown	Het
Tmprss13	T	C	9: 45,328,423	S10P	unknown	Het
Trav9d-1	T	A	14: 52,792,513	S25T	probably benign	Het
Trpc3	A	T	3: 36,624,416	I840K	probably damaging	Het
Tssc4	C	A	7: 143,069,262		probably benign	Het
Ttc39d	G	T	17: 80,216,150	R79S	possibly damaging	Het
Txlnb	T	A	10: 17,799,334	S78R	probably damaging	Het
Vmn1r142	T	A	7: 22,163,359	Q226L	possibly damaging	Het
Vmn1r230	T	C	17: 20,846,884	S112P	probably damaging	Het
Wrnip1	T	C	13: 32,816,377	F456L	possibly damaging	Het
Zc3h8	G	T	2: 128,933,295	H148Q	probably benign	Het
Zcchc3	A	G	2: 152,414,695	V28A	probably benign	Het
Zdbf2	T	A	1: 63,307,510	C1683S	probably benign	Het
Zfp874a	T	C	13: 67,425,604		probably null	Het
Zmym4	A	G	4: 126,882,236	S1260P	probably benign	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
R4911: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
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'- TCTGGACCCTGTACATGGATTC -3'
(R):5'- GTCAGGGACATAGTTCCAAAAGC -3'

Sequencing Primer
(F):5'- GGACCCTGTACATGGATTCTCCTC -3'
(R):5'- GTTCCAAAAGCAATGAGTTCTGAG -3'

Posted On

2019-10-07