Mutagenetix > Incidental Mutation

Incidental Mutation 'R7140:Arhgef3'

553427

Institutional Source

Beutler Lab

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 #

R7140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26836856-27125868 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27123664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 442 (N442Y)

Ref Sequence

ENSEMBL: ENSMUSP00000046486 (fasta)

Gene Model

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

AlphaFold

Q91X46

Predicted Effect

probably damaging
Transcript: ENSMUST00000049206
AA Change: N442Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046486
Gene: ENSMUSG00000021895
AA Change: N442Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000224981
AA Change: N435Y

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225949
AA Change: N462Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (70/71)

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
Adgra2	T	C	8: 27,610,929 (GRCm39)		probably null	Het
Ap2a2	G	A	7: 141,178,777 (GRCm39)	A148T	probably benign	Het
B3gat3	A	G	19: 8,903,216 (GRCm39)	Y191C	probably damaging	Het
B430306N03Rik	A	T	17: 48,629,483 (GRCm39)	K203*	probably null	Het
C1qtnf6	T	A	15: 78,409,283 (GRCm39)	Y188F	probably benign	Het
Capn10	T	C	1: 92,872,993 (GRCm39)	V573A	possibly damaging	Het
Cbx4	T	C	11: 118,972,754 (GRCm39)	Y207C	probably damaging	Het
Ccdc43	G	T	11: 102,579,695 (GRCm39)		probably null	Het
Ccng2	C	A	5: 93,416,614 (GRCm39)	P45Q	probably benign	Het
Cd86	T	C	16: 36,441,263 (GRCm39)	H68R	probably benign	Het
Cmtm4	A	G	8: 105,081,827 (GRCm39)	Y187H	probably damaging	Het
Cst11	T	C	2: 148,610,649 (GRCm39)	N134S	probably benign	Het
Cyp3a25	A	T	5: 145,939,855 (GRCm39)	F51I	probably benign	Het
Dnhd1	A	G	7: 105,342,973 (GRCm39)	E1439G	probably benign	Het
Dock4	T	C	12: 40,686,158 (GRCm39)	V131A	probably benign	Het
Dpysl2	A	G	14: 67,099,982 (GRCm39)	S85P	probably benign	Het
Dync1i2	A	G	2: 71,078,283 (GRCm39)	H324R	probably benign	Het
Elf1	A	G	14: 79,804,710 (GRCm39)	D162G	probably benign	Het
Eri3	G	A	4: 117,506,604 (GRCm39)		probably null	Het
Fbxl21	T	C	13: 56,680,145 (GRCm39)	S203P	probably damaging	Het
Foxi1	G	A	11: 34,155,758 (GRCm39)	R291C	probably damaging	Het
Gprin3	C	T	6: 59,332,128 (GRCm39)	A60T	possibly damaging	Het
Hecw1	A	G	13: 14,491,118 (GRCm39)	C212R	probably benign	Het
Hivep3	T	C	4: 119,954,318 (GRCm39)	L878P	probably damaging	Het
Hs6st3	A	T	14: 119,376,514 (GRCm39)	N230Y	probably damaging	Het
Htr3b	A	G	9: 48,848,441 (GRCm39)	V268A	possibly damaging	Het
Ip6k3	T	C	17: 27,363,969 (GRCm39)	T360A	probably damaging	Het
Izumo1	A	G	7: 45,275,536 (GRCm39)	T282A	probably benign	Het
Kidins220	T	A	12: 25,086,623 (GRCm39)	I1019N	probably damaging	Het
Med13l	T	C	5: 118,880,037 (GRCm39)	V1043A	probably benign	Het
Mon2	C	T	10: 122,871,358 (GRCm39)	V420I	probably benign	Het
Naip6	T	A	13: 100,436,708 (GRCm39)	Y605F	possibly damaging	Het
Nek7	A	G	1: 138,414,793 (GRCm39)	I285T	probably benign	Het
Notch3	A	G	17: 32,375,351 (GRCm39)	V357A	possibly damaging	Het
Nrxn1	G	A	17: 91,396,192 (GRCm39)		probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or2w4	C	T	13: 21,795,297 (GRCm39)	V281M	possibly damaging	Het
Or4a67	G	A	2: 88,598,308 (GRCm39)	A117V	probably damaging	Het
Or5g9	T	A	2: 85,551,818 (GRCm39)	L23Q	probably damaging	Het
Or6c74	T	G	10: 129,870,083 (GRCm39)	M196R	possibly damaging	Het
Ostm1	C	T	10: 42,559,268 (GRCm39)	A176V	probably null	Het
Pabpc6	C	A	17: 9,887,357 (GRCm39)	S398I	possibly damaging	Het
Pcdhac2	C	A	18: 37,277,239 (GRCm39)	P73H	possibly damaging	Het
Pcdhga9	A	G	18: 37,872,184 (GRCm39)	D671G	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pigu	A	C	2: 155,143,160 (GRCm39)	L248R	possibly damaging	Het
Pinx1	C	A	14: 64,097,834 (GRCm39)		probably null	Het
Pon3	T	C	6: 5,221,664 (GRCm39)	N322S	possibly damaging	Het
Pramel23	T	G	4: 143,425,002 (GRCm39)	H147P	probably benign	Het
Rnft1	A	G	11: 86,382,586 (GRCm39)	I270V	probably benign	Het
Scgb2b11	A	G	7: 31,910,006 (GRCm39)	F27L	probably damaging	Het
Slc5a4b	C	T	10: 75,910,943 (GRCm39)	V298I	probably damaging	Het
Slco1a6	T	A	6: 142,048,745 (GRCm39)	H345L	probably benign	Het
Sox1	C	T	8: 12,447,405 (GRCm39)	P349S	possibly damaging	Het
Spata31	A	G	13: 65,068,913 (GRCm39)	N354D	probably benign	Het
Speg	T	C	1: 75,383,414 (GRCm39)		probably null	Het
Stpg1	T	C	4: 135,261,033 (GRCm39)	I281T	probably benign	Het
Sult3a1	T	C	10: 33,753,283 (GRCm39)	L193P	probably damaging	Het
Tenm3	A	T	8: 48,745,271 (GRCm39)	C1097S	probably damaging	Het
Tfap2a	A	G	13: 40,883,523 (GRCm39)	S7P	probably benign	Het
Tlr1	T	C	5: 65,083,021 (GRCm39)	I519V	probably benign	Het
Tmem238	A	G	7: 4,792,072 (GRCm39)	V157A	possibly damaging	Het
Tmem45b	A	T	9: 31,345,780 (GRCm39)		probably null	Het
Togaram2	A	T	17: 72,021,761 (GRCm39)	H742L	probably benign	Het
Trpc7	A	T	13: 56,937,487 (GRCm39)	Y656*	probably null	Het
Wdr35	T	A	12: 9,072,785 (GRCm39)	Y920N	probably damaging	Het
Xab2	G	A	8: 3,668,117 (GRCm39)	R154C	possibly damaging	Het
Zfp759	A	T	13: 67,288,177 (GRCm39)	H576L	possibly damaging	Het
Zfp958	G	T	8: 4,678,481 (GRCm39)	A169S	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
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
R6562:Arhgef3	UTSW	14	26,874,953 (GRCm39)	start gained	probably benign
R6951:Arhgef3	UTSW	14	26,865,975 (GRCm39)	start gained	probably benign
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

PCR Primer
(F):5'- TGAGTCCTGCATCAGTTAGAGAC -3'
(R):5'- TCCATACTGCAGTCCGACTC -3'

Sequencing Primer
(F):5'- AATCAGTGTCTGGGATACGCC -3'
(R):5'- GACTCGCTGTCCGATTGGTC -3'

Posted On

2019-05-15