Mutagenetix > Incidental Mutation

Incidental Mutation 'R6562:Arhgef3'

522499

Institutional Source

Beutler Lab

Gene Symbol

Arhgef3

Ensembl Gene

ENSMUSG00000021895

Gene Name

Rho guanine nucleotide exchange factor 3

Synonyms

9830169H03Rik, C76747, 1200004I24Rik

MMRRC Submission

044686-MU

Accession Numbers

Essential gene?

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

Stock #

R6562 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26836856-27125868 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to T at 26874953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153396 (fasta)

Gene Model

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

AlphaFold

Q91X46

Predicted Effect

probably benign
Transcript: ENSMUST00000225949

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,970,543 (GRCm39)	K26E	probably benign	Het
Abt1	T	G	13: 23,607,758 (GRCm39)	E82A	probably damaging	Het
Actr8	A	G	14: 29,708,411 (GRCm39)		probably null	Het
Akap12	G	T	10: 4,306,141 (GRCm39)	E984*	probably null	Het
Ankrd13a	C	A	5: 114,942,453 (GRCm39)		probably benign	Het
Ankrd13c	T	A	3: 157,705,309 (GRCm39)	S411T	probably damaging	Het
Arhgef28	A	G	13: 98,124,647 (GRCm39)		probably null	Het
Atad5	T	C	11: 80,024,032 (GRCm39)	S1712P	probably benign	Het
Bbs12	A	G	3: 37,374,389 (GRCm39)	E394G	probably damaging	Het
Ccdc158	T	G	5: 92,810,581 (GRCm39)	K102N	probably damaging	Het
Ccdc169	A	G	3: 55,058,235 (GRCm39)	N89S	probably damaging	Het
Cd200l1	C	T	16: 45,264,442 (GRCm39)	E39K	probably benign	Het
Cenpu	T	C	8: 47,025,858 (GRCm39)	I132T	possibly damaging	Het
Cnrip1	G	A	11: 17,028,539 (GRCm39)	W157*	probably null	Het
Ctnnd1	A	G	2: 84,454,652 (GRCm39)	S53P	probably benign	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 24,136,572 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,879,647 (GRCm39)	V969D	probably damaging	Het
Ehd2	C	A	7: 15,691,492 (GRCm39)	R280L	probably benign	Het
Entpd5	T	C	12: 84,432,974 (GRCm39)	T218A	probably damaging	Het
Fcrl2	A	C	3: 87,164,635 (GRCm39)	I297S	probably benign	Het
Frmpd2	T	A	14: 33,293,872 (GRCm39)	L1346Q	probably benign	Het
Fry	T	C	5: 150,249,614 (GRCm39)	S142P	probably damaging	Het
Gbgt1	A	T	2: 28,394,898 (GRCm39)	I179F	probably damaging	Het
Gm17067	A	T	7: 42,358,153 (GRCm39)	S116R	probably damaging	Het
Gm5565	G	T	5: 146,094,964 (GRCm39)	P261T	probably damaging	Het
Kat6a	T	C	8: 23,401,803 (GRCm39)	F391L	probably benign	Het
Kcnmb4	A	T	10: 116,309,089 (GRCm39)		probably null	Het
Krt6a	T	A	15: 101,600,094 (GRCm39)	H386L	probably benign	Het
L3mbtl1	C	T	2: 162,812,124 (GRCm39)	T723I	probably benign	Het
Lamb2	A	T	9: 108,364,207 (GRCm39)	R1049W	possibly damaging	Het
Lrmda	T	C	14: 22,648,254 (GRCm39)		probably benign	Het
Lysmd2	C	T	9: 75,542,691 (GRCm39)	T95I	unknown	Het
Ndst3	A	G	3: 123,346,181 (GRCm39)	S698P	probably damaging	Het
Nin	T	C	12: 70,102,728 (GRCm39)	D300G	probably damaging	Het
Nutf2	G	T	8: 106,602,258 (GRCm39)	D23Y	probably benign	Het
Or6c211	G	A	10: 129,506,008 (GRCm39)	P127S	probably damaging	Het
Ovgp1	A	G	3: 105,887,589 (GRCm39)	Y300C	probably damaging	Het
Pgghg	A	G	7: 140,526,506 (GRCm39)	I633V	probably benign	Het
Pik3r3	C	T	4: 116,157,006 (GRCm39)	Q496*	probably null	Het
Pkn3	G	T	2: 29,970,699 (GRCm39)		probably null	Het
Plin2	A	T	4: 86,576,832 (GRCm39)	S298T	probably benign	Het
Prdm8	T	C	5: 98,331,202 (GRCm39)	V18A	possibly damaging	Het
Rel	C	A	11: 23,707,026 (GRCm39)	G59*	probably null	Het
Siglecg	A	G	7: 43,058,481 (GRCm39)	R123G	possibly damaging	Het
Slc13a1	T	A	6: 24,150,792 (GRCm39)	I49F	probably benign	Het
Slc39a10	T	A	1: 46,874,724 (GRCm39)	T193S	probably benign	Het
Slc9a3	T	A	13: 74,303,280 (GRCm39)	V191E	probably damaging	Het
Spata31e2	T	A	1: 26,721,443 (GRCm39)	T1246S	possibly damaging	Het
Sult2b1	A	C	7: 45,391,670 (GRCm39)	S39A	probably benign	Het
Tead1	A	G	7: 112,460,650 (GRCm39)	T185A	probably benign	Het
Tmem67	A	G	4: 12,053,445 (GRCm39)		probably null	Het
Trim12c	A	T	7: 103,994,341 (GRCm39)		probably null	Het
Trpm6	T	A	19: 18,815,406 (GRCm39)	F1164Y	probably damaging	Het
Ube2d1	C	T	10: 71,098,071 (GRCm39)	D16N	probably benign	Het
Vmn2r24	A	T	6: 123,757,386 (GRCm39)	I85F	probably benign	Het
Vwde	T	A	6: 13,193,122 (GRCm39)	N406Y	possibly damaging	Het
Wdr54	A	T	6: 83,132,050 (GRCm39)		probably null	Het
Zcchc14	A	T	8: 122,330,842 (GRCm39)	N840K	probably damaging	Het
Zfp451	C	A	1: 33,801,260 (GRCm39)	S1052I	possibly damaging	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
IGL02505:Arhgef3	APN	14	27,115,957 (GRCm39)	missense	possibly damaging	0.92
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
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

Predicted Primers

Posted On

2018-06-06