Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02505:Arhgef3'

296268

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgef3

Ensembl Gene

ENSMUSG00000021895

Gene Name

Rho guanine nucleotide exchange factor 3

Synonyms

9830169H03Rik, C76747, 1200004I24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

IGL02505

Quality Score

Status

Chromosome

Chromosomal Location

26836856-27125868 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27115957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 233 (H233R)

Ref Sequence

ENSEMBL: ENSMUSP00000046486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049206] [ENSMUST00000224981] [ENSMUST00000225949]

AlphaFold

Q91X46

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049206
AA Change: H233R

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046486
Gene: ENSMUSG00000021895
AA Change: H233R

Domain	Start	End	E-Value	Type
RhoGEF	132	309	4.11e-51	SMART
PH	318	457	3.26e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000224981
AA Change: H226R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000225949
AA Change: H253R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased mean platelet volume and a mild delay in platelet recovery in response to thrombocytopenia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	C	A	9: 63,524,096 (GRCm39)	L68M	probably damaging	Het
Abca13	T	G	11: 9,531,498 (GRCm39)	L4575W	probably damaging	Het
Abcb11	A	T	2: 69,076,105 (GRCm39)	V1201D	probably damaging	Het
Aldoa	G	T	7: 126,395,166 (GRCm39)	A252E	probably damaging	Het
Ap1b1	C	T	11: 4,981,700 (GRCm39)	A536V	probably benign	Het
Arhgef40	A	T	14: 52,238,320 (GRCm39)	E1266D	probably damaging	Het
Atp1a4	C	T	1: 172,062,642 (GRCm39)	V622M	probably damaging	Het
Aup1	A	G	6: 83,032,258 (GRCm39)	T142A	probably benign	Het
Bcl6	A	T	16: 23,796,319 (GRCm39)	I36N	probably damaging	Het
Best1	A	G	19: 9,966,514 (GRCm39)	S358P	probably damaging	Het
Cadps	T	G	14: 12,449,759 (GRCm38)	Q1150P	probably damaging	Het
Capn5	T	A	7: 97,780,403 (GRCm39)	E322D	possibly damaging	Het
Cd300ld2	A	T	11: 114,904,513 (GRCm39)	M118K	probably benign	Het
Cdh9	T	C	15: 16,856,075 (GRCm39)	L705P	probably damaging	Het
Cep170b	T	G	12: 112,709,504 (GRCm39)	N436K	probably damaging	Het
Chil6	T	A	3: 106,313,278 (GRCm39)	I24F	probably benign	Het
Chmp2a	T	A	7: 12,767,782 (GRCm39)	K48*	probably null	Het
Col19a1	C	T	1: 24,339,665 (GRCm39)		probably benign	Het
Cops7b	C	A	1: 86,520,043 (GRCm39)	Q65K	probably benign	Het
Cyp2e1	T	A	7: 140,349,069 (GRCm39)	L133H	probably damaging	Het
Dkc1	T	C	X: 74,152,339 (GRCm39)		probably benign	Het
Erlec1	A	G	11: 30,900,767 (GRCm39)	Y134H	probably damaging	Het
F8	C	A	X: 74,423,204 (GRCm39)		probably benign	Het
Fus	G	A	7: 127,580,679 (GRCm39)	R252Q	possibly damaging	Het
Fzd3	A	T	14: 65,490,555 (GRCm39)	D9E	probably benign	Het
Gm15821	T	C	17: 34,433,259 (GRCm39)		probably benign	Het
Gm5117	C	A	8: 32,228,344 (GRCm39)		noncoding transcript	Het
H2-Q6	A	G	17: 35,644,152 (GRCm39)	I45V	probably benign	Het
Hectd1	A	G	12: 51,847,496 (GRCm39)		probably null	Het
Ifi204	T	C	1: 173,583,220 (GRCm39)	K333E	probably benign	Het
Ildr1	G	A	16: 36,536,526 (GRCm39)	G185D	probably damaging	Het
Itgb2	G	A	10: 77,383,052 (GRCm39)	D141N	probably damaging	Het
Kdm1b	G	T	13: 47,214,331 (GRCm39)	D226Y	probably damaging	Het
Krt77	A	G	15: 101,769,381 (GRCm39)	L460P	probably damaging	Het
Lamp3	A	G	16: 19,474,207 (GRCm39)	I389T	possibly damaging	Het
Macroh2a1	A	G	13: 56,222,143 (GRCm39)	V336A	probably damaging	Het
Mars1	C	A	10: 127,140,113 (GRCm39)	E414*	probably null	Het
Mpg	T	C	11: 32,180,042 (GRCm39)	V190A	probably damaging	Het
Myh15	A	G	16: 48,937,626 (GRCm39)	I742M	possibly damaging	Het
Nell2	A	T	15: 95,194,144 (GRCm39)		probably benign	Het
Nmur1	T	C	1: 86,314,057 (GRCm39)	D370G	probably benign	Het
Npsr1	A	G	9: 24,009,578 (GRCm39)	E28G	probably benign	Het
Or52r1	T	C	7: 102,536,814 (GRCm39)	E182G	probably damaging	Het
Or56a3	A	T	7: 104,735,540 (GRCm39)	I206L	probably benign	Het
Or7a42	G	T	10: 78,791,767 (GRCm39)	V243F	probably benign	Het
Or8b12c	G	A	9: 37,715,627 (GRCm39)	C140Y	probably benign	Het
Pdzrn3	T	C	6: 101,128,899 (GRCm39)	N589S	possibly damaging	Het
Pkd1l3	T	C	8: 110,359,848 (GRCm39)	L901P	probably damaging	Het
Plekhg1	G	T	10: 3,907,139 (GRCm39)	K685N	probably damaging	Het
Prim1	T	A	10: 127,865,652 (GRCm39)	*419R	probably null	Het
Ptk2b	G	T	14: 66,391,692 (GRCm39)	N905K	probably damaging	Het
Rbm34	T	C	8: 127,676,071 (GRCm39)	I395V	probably benign	Het
Rfx1	A	G	8: 84,822,438 (GRCm39)	E912G	possibly damaging	Het
Rngtt	T	C	4: 33,337,936 (GRCm39)	V253A	possibly damaging	Het
Slc2a9	A	G	5: 38,594,002 (GRCm39)	Y169H	possibly damaging	Het
Slc49a4	G	T	16: 35,555,928 (GRCm39)	D177E	probably benign	Het
Susd4	C	A	1: 182,719,645 (GRCm39)	T420K	probably benign	Het
Tdrd3	G	A	14: 87,749,118 (GRCm39)	G676D	probably damaging	Het
Tec	T	C	5: 72,946,587 (GRCm39)	K47E	probably damaging	Het
Tenm2	C	A	11: 35,942,743 (GRCm39)	G1308*	probably null	Het
Tmprss15	A	T	16: 78,784,629 (GRCm39)	D675E	probably benign	Het
Vmn1r84	A	G	7: 12,096,346 (GRCm39)	C104R	probably damaging	Het
Vmn2r49	T	A	7: 9,710,378 (GRCm39)	M785L	probably benign	Het
Vmn2r85	G	T	10: 130,261,449 (GRCm39)	T296K	probably damaging	Het
Wdr3	C	T	3: 100,059,290 (GRCm39)	S343N	probably benign	Het
Yju2	G	T	17: 56,269,051 (GRCm39)	G53V	probably damaging	Het
Zfp143	A	T	7: 109,690,993 (GRCm39)	M515L	possibly damaging	Het
Zfp735	A	G	11: 73,580,626 (GRCm39)	I42V	probably benign	Het
Zswim5	A	T	4: 116,819,749 (GRCm39)	M385L	probably benign	Het

Other mutations in Arhgef3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Arhgef3	APN	14	27,123,876 (GRCm39)	nonsense	probably null
IGL02178:Arhgef3	APN	14	26,987,486 (GRCm39)	nonsense	probably null
IGL02302:Arhgef3	APN	14	27,084,799 (GRCm39)	missense	probably benign	0.08
IGL03203:Arhgef3	APN	14	27,116,073 (GRCm39)	missense	probably damaging	1.00
IGL03339:Arhgef3	APN	14	27,123,814 (GRCm39)	missense	probably damaging	0.99
R0762:Arhgef3	UTSW	14	27,119,584 (GRCm39)	missense	probably damaging	1.00
R1192:Arhgef3	UTSW	14	27,101,663 (GRCm39)	missense	probably damaging	1.00
R1572:Arhgef3	UTSW	14	27,123,692 (GRCm39)	missense	probably damaging	1.00
R1794:Arhgef3	UTSW	14	27,119,562 (GRCm39)	missense	probably benign	0.44
R2426:Arhgef3	UTSW	14	27,106,138 (GRCm39)	nonsense	probably null
R2509:Arhgef3	UTSW	14	27,101,633 (GRCm39)	missense	probably damaging	1.00
R4932:Arhgef3	UTSW	14	27,106,170 (GRCm39)	missense	probably damaging	0.99
R5017:Arhgef3	UTSW	14	26,987,487 (GRCm39)	missense	possibly damaging	0.85
R5216:Arhgef3	UTSW	14	27,123,799 (GRCm39)	missense	probably benign	0.00
R6562:Arhgef3	UTSW	14	26,874,953 (GRCm39)	start gained	probably benign
R6951:Arhgef3	UTSW	14	26,865,975 (GRCm39)	start gained	probably benign
R7140:Arhgef3	UTSW	14	27,123,664 (GRCm39)	missense	probably damaging	1.00
R7361:Arhgef3	UTSW	14	26,987,535 (GRCm39)	missense	possibly damaging	0.56
R7968:Arhgef3	UTSW	14	27,116,062 (GRCm39)	missense	probably damaging	1.00
R7968:Arhgef3	UTSW	14	27,108,070 (GRCm39)	missense	probably damaging	0.99
R7988:Arhgef3	UTSW	14	27,123,743 (GRCm39)	missense	probably benign	0.22
R8042:Arhgef3	UTSW	14	27,084,766 (GRCm39)	missense	possibly damaging	0.85
R8077:Arhgef3	UTSW	14	27,107,881 (GRCm39)	missense	probably damaging	1.00
R8303:Arhgef3	UTSW	14	27,116,095 (GRCm39)	missense	probably damaging	0.99
R9199:Arhgef3	UTSW	14	27,122,244 (GRCm39)	missense	possibly damaging	0.82
R9365:Arhgef3	UTSW	14	27,101,555 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16