Mutagenetix > Incidental Mutation

Incidental Mutation 'R1224:Rhog'

152834

Institutional Source

Beutler Lab

Gene Symbol

Rhog

Ensembl Gene

ENSMUSG00000073982

Gene Name

ras homolog family member G

Synonyms

2810426G09Rik, Arhg, RhoG, Sid10750

MMRRC Submission

039293-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1224 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101888330-101899325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101888959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 165 (V165F)

Ref Sequence

ENSEMBL: ENSMUSP00000102536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033292] [ENSMUST00000098230] [ENSMUST00000106923] [ENSMUST00000119816] [ENSMUST00000120119] [ENSMUST00000120879] [ENSMUST00000126914] [ENSMUST00000143541] [ENSMUST00000145352] [ENSMUST00000138479] [ENSMUST00000138753] [ENSMUST00000129340] [ENSMUST00000142873] [ENSMUST00000156529] [ENSMUST00000140058] [ENSMUST00000153020] [ENSMUST00000209968]

AlphaFold

P84096

Predicted Effect

probably benign
Transcript: ENSMUST00000033292

SMART Domains

Protein: ENSMUSP00000033292
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
Pfam:Frag1	18	241	2e-51	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098230
AA Change: V165F

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095832
Gene: ENSMUSG00000073982
AA Change: V165F

Domain	Start	End	E-Value	Type
RHO	6	179	1.87e-133	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106923
AA Change: V165F

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102536
Gene: ENSMUSG00000073982
AA Change: V165F

Domain	Start	End	E-Value	Type
RHO	6	179	1.87e-133	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119816

SMART Domains

Protein: ENSMUSP00000113261
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120119

SMART Domains

Protein: ENSMUSP00000113574
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
Pfam:Frag1	16	239	1.6e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120879

SMART Domains

Protein: ENSMUSP00000114016
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
Pfam:Frag1	18	237	7.2e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126914

SMART Domains

Protein: ENSMUSP00000114853
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
Pfam:Frag1	18	101	6.6e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134621

Predicted Effect

probably benign
Transcript: ENSMUST00000143541

SMART Domains

Protein: ENSMUSP00000117450
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
Pfam:Frag1	18	79	2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145352

SMART Domains

Protein: ENSMUSP00000123523
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138479

SMART Domains

Protein: ENSMUSP00000115590
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
Pfam:Frag1	18	209	5.9e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138753

SMART Domains

Protein: ENSMUSP00000116858
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
Pfam:Frag1	18	123	9.1e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129340

SMART Domains

Protein: ENSMUSP00000119692
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142873

SMART Domains

Protein: ENSMUSP00000121988
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
Pfam:Frag1	18	136	3.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156529

SMART Domains

Protein: ENSMUSP00000121521
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
Pfam:Frag1	18	237	7.2e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140058

SMART Domains

Protein: ENSMUSP00000122482
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153020

SMART Domains

Protein: ENSMUSP00000123570
Gene: ENSMUSG00000030990

Domain	Start	End	E-Value	Type
Pfam:Frag1	18	209	5.9e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214560

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein facilitates translocation of a functional guanine nucleotide exchange factor (GEF) complex from the cytoplasm to the plasma membrane where ras-related C3 botulinum toxin substrate 1 is activated to promote lamellipodium formation and cell migration. Two related pseudogene have been identified on chromosomes 20 and X. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display and essentially normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,931,408 (GRCm39)	E1248D	probably damaging	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Aldh16a1	T	C	7: 44,791,471 (GRCm39)		probably null	Het
Aldh9a1	T	A	1: 167,180,227 (GRCm39)	I107N	probably damaging	Het
Atp6ap1l	G	A	13: 91,034,675 (GRCm39)	Q236*	probably null	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cd46	A	T	1: 194,744,706 (GRCm39)	I344K	possibly damaging	Het
Ces3a	A	T	8: 105,778,141 (GRCm39)	D204V	probably damaging	Het
Clstn3	T	C	6: 124,434,878 (GRCm39)	S346G	probably benign	Het
Cplane1	T	A	15: 8,207,869 (GRCm39)	C207S	probably benign	Het
Dock1	A	G	7: 134,710,548 (GRCm39)	D1190G	possibly damaging	Het
Gimap8	G	A	6: 48,627,629 (GRCm39)	S201N	probably benign	Het
Gm10153	A	G	7: 141,744,072 (GRCm39)	S19P	unknown	Het
Igfn1	A	G	1: 135,897,494 (GRCm39)	V1024A	probably benign	Het
Kcng3	A	G	17: 83,938,824 (GRCm39)	L75P	probably damaging	Het
Krt31	C	T	11: 99,940,690 (GRCm39)		probably null	Het
Ly6a	A	G	15: 74,868,327 (GRCm39)	V54A	possibly damaging	Het
Map3k7cl	T	A	16: 87,352,891 (GRCm39)	D21E	probably benign	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Rapsn	T	C	2: 90,873,543 (GRCm39)	L230P	probably damaging	Het
Slc44a4	T	C	17: 35,140,844 (GRCm39)	V313A	probably benign	Het
Sox14	G	C	9: 99,757,168 (GRCm39)	H190Q	probably damaging	Het
Sval2	G	A	6: 41,841,188 (GRCm39)	D103N	probably benign	Het
Tm9sf3	A	T	19: 41,211,634 (GRCm39)	V403D	probably damaging	Het
Tmem269	T	C	4: 119,074,323 (GRCm39)	K18R	probably benign	Het
Unc80	T	C	1: 66,511,139 (GRCm39)	F49S	probably damaging	Het
Zdhhc7	T	A	8: 120,809,311 (GRCm39)	T299S	probably benign	Het
Zfp52	T	C	17: 21,775,324 (GRCm39)	V6A	possibly damaging	Het

Other mutations in Rhog

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3004:Rhog	UTSW	7	101,889,345 (GRCm39)	missense	probably damaging	1.00
R4867:Rhog	UTSW	7	101,889,357 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGCAGCAACAACTTTGGAAAGC -3'
(R):5'- AACGTGAGGCACAAATGGCACC -3'

Sequencing Primer
(F):5'- ACTTGGTATTCCCAAGCAGAG -3'
(R):5'- AGAGGTTTGTCACCACTGC -3'

Posted On

2014-01-29