Mutagenetix > Incidental Mutation

Incidental Mutation 'R6228:Rhoc'

504457

Institutional Source

Beutler Lab

Gene Symbol

Rhoc

Ensembl Gene

ENSMUSG00000002233

Gene Name

ras homolog family member C

Synonyms

Arhc, Arh9

MMRRC Submission

044357-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.471) question?

Stock #

R6228 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104696350-104701775 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 104700297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002297] [ENSMUST00000002303] [ENSMUST00000106774] [ENSMUST00000106775] [ENSMUST00000106787] [ENSMUST00000166979] [ENSMUST00000176347] [ENSMUST00000196817] [ENSMUST00000199824] [ENSMUST00000199824] [ENSMUST00000199824] [ENSMUST00000168015]

AlphaFold

Q62159

Predicted Effect

probably benign
Transcript: ENSMUST00000002297

SMART Domains

Protein: ENSMUSP00000002297
Gene: ENSMUSG00000002227

Domain	Start	End	E-Value	Type
low complexity region	297	312	N/A	INTRINSIC
low complexity region	338	353	N/A	INTRINSIC
AAA	517	699	5.72e-3	SMART
low complexity region	953	970	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000002303
AA Change: D120G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000002303
Gene: ENSMUSG00000002233
AA Change: D120G

Domain	Start	End	E-Value	Type
RHO	8	181	9.45e-130	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106774

SMART Domains

Protein: ENSMUSP00000102386
Gene: ENSMUSG00000002227

Domain	Start	End	E-Value	Type
low complexity region	297	312	N/A	INTRINSIC
low complexity region	338	353	N/A	INTRINSIC
AAA	517	699	5.72e-3	SMART
low complexity region	953	970	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106775

SMART Domains

Protein: ENSMUSP00000102387
Gene: ENSMUSG00000002227

Domain	Start	End	E-Value	Type
low complexity region	297	312	N/A	INTRINSIC
low complexity region	338	353	N/A	INTRINSIC
AAA	517	699	5.72e-3	SMART
low complexity region	953	970	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106787
AA Change: D120G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102399
Gene: ENSMUSG00000002233
AA Change: D120G

Domain	Start	End	E-Value	Type
RHO	8	181	9.45e-130	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132721

Predicted Effect

probably benign
Transcript: ENSMUST00000166979

SMART Domains

Protein: ENSMUSP00000126897
Gene: ENSMUSG00000002227

Domain	Start	End	E-Value	Type
low complexity region	61	75	N/A	INTRINSIC
low complexity region	370	385	N/A	INTRINSIC
low complexity region	411	426	N/A	INTRINSIC
AAA	590	772	5.72e-3	SMART
low complexity region	1026	1043	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000176347
AA Change: D120G

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

SMART Domains

Protein: ENSMUSP00000135659
Gene: ENSMUSG00000002233
AA Change: D120G

Domain	Start	End	E-Value	Type
RHO	8	148	7.45e-87	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000196817
AA Change: D120G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142697
Gene: ENSMUSG00000002233
AA Change: D120G

Domain	Start	End	E-Value	Type
RHO	8	181	9.45e-130	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000199824

SMART Domains

Protein: ENSMUSP00000142855
Gene: ENSMUSG00000002233

Domain	Start	End	E-Value	Type
RHO	8	118	1.4e-68	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000199824

SMART Domains

Protein: ENSMUSP00000142855
Gene: ENSMUSG00000002233

Domain	Start	End	E-Value	Type
RHO	8	118	1.4e-68	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000199824

SMART Domains

Protein: ENSMUSP00000142855
Gene: ENSMUSG00000002233

Domain	Start	End	E-Value	Type
RHO	8	118	1.4e-68	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168015

SMART Domains

Protein: ENSMUSP00000128246
Gene: ENSMUSG00000002227

Domain	Start	End	E-Value	Type
low complexity region	297	312	N/A	INTRINSIC
low complexity region	338	353	N/A	INTRINSIC
AAA	517	699	5.72e-3	SMART
low complexity region	953	970	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

100% (93/93)

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 protein encoded by this gene is prenylated at its C-terminus, and localizes to the cytoplasm and plasma membrane. It is thought to be important in cell locomotion. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutation in this gene results in no abnormal phenotype, except for reduced stress fiber formation in serum starved fibroblasts. However, in combination with Tg(MMTV-PyVT)634Mul mice, metastatic potential of tumors and tumor cell motility are decreased. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	T	7: 45,679,680 (GRCm39)	T9K	probably benign	Het
Ankrd28	T	C	14: 31,429,177 (GRCm39)	H925R	probably damaging	Het
Antxrl	A	T	14: 33,778,556 (GRCm39)	T128S	probably damaging	Het
Atosa	A	G	9: 74,913,645 (GRCm39)	M100V	possibly damaging	Het
Atp8b5	T	C	4: 43,304,674 (GRCm39)	Y62H	probably damaging	Het
Bmpr2	G	T	1: 59,906,595 (GRCm39)	V563L	probably benign	Het
Btn1a1	A	T	13: 23,648,521 (GRCm39)	L104Q	probably damaging	Het
Caskin1	C	G	17: 24,726,154 (GRCm39)	D1420E	probably damaging	Het
Cdc14a	A	T	3: 116,144,862 (GRCm39)	I150N	probably damaging	Het
Cdc26	C	T	4: 62,321,031 (GRCm39)	R4Q	probably damaging	Het
Cfap46	T	C	7: 139,236,496 (GRCm39)	D160G	probably damaging	Het
Cxcr4	A	C	1: 128,519,920 (GRCm39)		probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dgat1	T	C	15: 76,387,493 (GRCm39)	N317S	possibly damaging	Het
Disp1	G	A	1: 182,880,589 (GRCm39)	T228M	possibly damaging	Het
Dixdc1	A	C	9: 50,614,656 (GRCm39)		probably null	Het
Dnase1l2	C	A	17: 24,661,492 (GRCm39)		probably benign	Het
Dsg2	T	C	18: 20,727,350 (GRCm39)		probably null	Het
Duox2	A	T	2: 122,117,674 (GRCm39)	F887I	probably benign	Het
Duxf4	A	G	10: 58,071,344 (GRCm39)	M290T	probably benign	Het
Efcab6	T	C	15: 83,851,825 (GRCm39)	D351G	possibly damaging	Het
Ep400	A	G	5: 110,818,808 (GRCm39)	V2621A	probably damaging	Het
Epg5	G	T	18: 77,991,677 (GRCm39)	V125F	possibly damaging	Het
Ephb1	T	C	9: 101,800,783 (GRCm39)	R953G	probably damaging	Het
Etfdh	G	T	3: 79,519,336 (GRCm39)	Y272*	probably null	Het
Fam117b	A	G	1: 60,008,207 (GRCm39)	E347G	probably damaging	Het
Gfra3	A	T	18: 34,828,846 (GRCm39)	C183S	probably damaging	Het
Gmip	A	G	8: 70,268,773 (GRCm39)	D466G	probably damaging	Het
Golga5	G	A	12: 102,450,740 (GRCm39)	M464I	probably benign	Het
Gpd1	A	T	15: 99,621,146 (GRCm39)	Q320L	possibly damaging	Het
H2-Oa	G	T	17: 34,312,851 (GRCm39)	D43Y	probably damaging	Het
Hecw1	T	A	13: 14,520,623 (GRCm39)	I205F	probably damaging	Het
Ighv8-13	A	G	12: 115,728,973 (GRCm39)	Y95H	probably damaging	Het
Igkv6-20	T	C	6: 70,313,081 (GRCm39)	M31V	possibly damaging	Het
Itih1	T	C	14: 30,653,217 (GRCm39)	D737G	probably benign	Het
Kcnc4	G	C	3: 107,355,693 (GRCm39)	H252D	probably damaging	Het
Kcnj14	T	A	7: 45,468,921 (GRCm39)	T195S	probably damaging	Het
Limch1	A	T	5: 67,173,845 (GRCm39)	D642V	probably damaging	Het
Lrp2	T	G	2: 69,312,710 (GRCm39)	D2526A	possibly damaging	Het
Lrrc8a	A	G	2: 30,146,565 (GRCm39)	T460A	possibly damaging	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Lypd8	A	T	11: 58,277,629 (GRCm39)	Q137L	possibly damaging	Het
Mapkapk3	A	G	9: 107,137,262 (GRCm39)	Y206H	probably damaging	Het
Mrc1	G	A	2: 14,276,115 (GRCm39)	G483D	probably benign	Het
Mrpl35	C	A	6: 71,800,661 (GRCm39)		probably benign	Het
Mycbp2	T	A	14: 103,497,665 (GRCm39)	H936L	probably benign	Het
Myh3	A	T	11: 66,978,312 (GRCm39)	Y433F	probably benign	Het
Napb	C	T	2: 148,540,098 (GRCm39)		probably null	Het
Nbeal1	C	A	1: 60,335,083 (GRCm39)	Q2288K	probably benign	Het
Ndst3	G	A	3: 123,465,301 (GRCm39)	Q224*	probably null	Het
Nkapd1	A	G	9: 50,518,971 (GRCm39)	S214P	possibly damaging	Het
Nkd2	A	G	13: 73,969,579 (GRCm39)	S284P	probably benign	Het
Or10a2	T	C	7: 106,673,343 (GRCm39)	Y103H	probably damaging	Het
Or5b12	A	T	19: 12,897,301 (GRCm39)	V124E	probably damaging	Het
Or6k2	G	A	1: 173,979,712 (GRCm39)	S210N	probably benign	Het
Or8h10	T	C	2: 86,809,035 (GRCm39)	Y35C	probably damaging	Het
Pcdhb8	A	G	18: 37,490,037 (GRCm39)	T572A	probably benign	Het
Pcdhb9	A	G	18: 37,535,115 (GRCm39)	I370V	probably benign	Het
Pcsk5	T	G	19: 17,558,631 (GRCm39)	E592A	possibly damaging	Het
Pigc	T	C	1: 161,798,036 (GRCm39)	V6A	probably benign	Het
Pla2g6	T	G	15: 79,189,924 (GRCm39)	I389L	probably benign	Het
Pnliprp2	T	C	19: 58,751,874 (GRCm39)		probably null	Het
Psmb11	T	C	14: 54,863,646 (GRCm39)	V288A	probably benign	Het
Rapgef5	A	G	12: 117,685,398 (GRCm39)		probably null	Het
Rcn3	T	C	7: 44,732,720 (GRCm39)	N316S	probably damaging	Het
Rgs6	A	G	12: 83,112,738 (GRCm39)	K183E	probably damaging	Het
Serinc5	T	C	13: 92,844,616 (GRCm39)	C453R	probably damaging	Het
Slc14a1	A	C	18: 78,159,614 (GRCm39)	M93R	probably damaging	Het
Slc25a3	A	T	10: 90,958,090 (GRCm39)	D83E	probably damaging	Het
Slc36a3	T	C	11: 55,015,777 (GRCm39)	Y459C	probably benign	Het
Slc44a5	A	T	3: 153,944,800 (GRCm39)	Y139F	probably benign	Het
Spag17	A	T	3: 99,929,918 (GRCm39)	Q539L	probably benign	Het
Stap2	C	T	17: 56,306,976 (GRCm39)	V234M	probably damaging	Het
Stard9	A	G	2: 120,544,231 (GRCm39)	Y4450C	probably damaging	Het
Taf6l	C	T	19: 8,756,030 (GRCm39)	R206Q	probably benign	Het
Tbc1d23	C	T	16: 57,003,266 (GRCm39)	V501I	probably damaging	Het
Thap2	T	C	10: 115,208,751 (GRCm39)	H123R	probably damaging	Het
Tlx3	C	A	11: 33,152,432 (GRCm39)	W221L	probably benign	Het
Tmem262	T	A	19: 6,130,567 (GRCm39)		probably null	Het
Tpmt	C	A	13: 47,180,735 (GRCm39)	R201S	probably benign	Het
Trpm6	T	C	19: 18,831,655 (GRCm39)	S1507P	probably damaging	Het
Ttc9c	T	C	19: 8,795,847 (GRCm39)	E64G	possibly damaging	Het
Ttn	A	T	2: 76,640,790 (GRCm39)	S13653T	probably damaging	Het
Ugt3a1	G	T	15: 9,310,726 (GRCm39)	W336L	possibly damaging	Het
Vmn1r215	C	A	13: 23,260,633 (GRCm39)	N224K	probably benign	Het
Vmn2r59	C	T	7: 41,691,835 (GRCm39)		probably null	Het
Wdfy3	A	G	5: 102,046,295 (GRCm39)	S1853P	possibly damaging	Het
Wdr36	A	T	18: 32,975,059 (GRCm39)	Y137F	possibly damaging	Het
Zdhhc17	T	C	10: 110,792,216 (GRCm39)	D324G	probably benign	Het
Zfp217	T	C	2: 169,961,497 (GRCm39)	T277A	probably benign	Het
Zfp451	A	G	1: 33,842,219 (GRCm39)		probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp871	T	C	17: 32,994,858 (GRCm39)	S106G	possibly damaging	Het

Other mutations in Rhoc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03117:Rhoc	APN	3	104,700,236 (GRCm39)	missense	probably benign	0.23
R0103:Rhoc	UTSW	3	104,699,307 (GRCm39)	missense	possibly damaging	0.48
R0103:Rhoc	UTSW	3	104,699,307 (GRCm39)	missense	possibly damaging	0.48
R3786:Rhoc	UTSW	3	104,700,003 (GRCm39)	critical splice donor site	probably null
R4715:Rhoc	UTSW	3	104,701,355 (GRCm39)	missense	probably damaging	0.99
R4751:Rhoc	UTSW	3	104,699,963 (GRCm39)	missense	probably damaging	1.00
R8704:Rhoc	UTSW	3	104,699,342 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAGAGACAGTAGCCCTTGGG -3'
(R):5'- TCTTCCCAGCATTCGGACAG -3'

Sequencing Primer
(F):5'- AGCTGTGCAAGGTACTGC -3'
(R):5'- CCAGCATTCGGACAGGACAG -3'

Posted On

2018-02-28