Mutagenetix > Incidental Mutation

Incidental Mutation 'R3786:Rhoc'

272248

Institutional Source

Beutler Lab

Gene Symbol

Rhoc

Ensembl Gene

ENSMUSG00000002233

Gene Name

ras homolog family member C

Synonyms

Arhc, Arh9

MMRRC Submission

040753-MU

Accession Numbers

Essential gene?

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

Stock #

R3786 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104696350-104701775 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 104700003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142855 (fasta)

Gene Model

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

SMART Domains

Protein: ENSMUSP00000002303
Gene: ENSMUSG00000002233

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

Predicted Effect

probably null
Transcript: ENSMUST00000002303

SMART Domains

Protein: ENSMUSP00000002303
Gene: ENSMUSG00000002233

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 null
Transcript: ENSMUST00000106787

SMART Domains

Protein: ENSMUSP00000102399
Gene: ENSMUSG00000002233

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

Predicted Effect

probably null
Transcript: ENSMUST00000106787

SMART Domains

Protein: ENSMUSP00000102399
Gene: ENSMUSG00000002233

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 null
Transcript: ENSMUST00000176347

SMART Domains

Protein: ENSMUSP00000135659
Gene: ENSMUSG00000002233

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

Predicted Effect

probably null
Transcript: ENSMUST00000176347

SMART Domains

Protein: ENSMUSP00000135659
Gene: ENSMUSG00000002233

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

Predicted Effect

probably null
Transcript: ENSMUST00000196817

SMART Domains

Protein: ENSMUSP00000142697
Gene: ENSMUSG00000002233

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

Predicted Effect

probably null
Transcript: ENSMUST00000196817

SMART Domains

Protein: ENSMUSP00000142697
Gene: ENSMUSG00000002233

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 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: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

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 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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	A	3: 97,066,605 (GRCm39)	L41Q	probably damaging	Het
Aoc1	T	C	6: 48,882,589 (GRCm39)	L177P	probably damaging	Het
Btbd7	C	T	12: 102,804,411 (GRCm39)	E210K	probably benign	Het
C1qtnf12	G	A	4: 156,050,356 (GRCm39)	R231H	probably damaging	Het
Cenpf	T	A	1: 189,390,534 (GRCm39)	E1099D	probably damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dmxl1	G	A	18: 49,998,189 (GRCm39)	S763N	probably damaging	Het
Dzip3	C	A	16: 48,795,906 (GRCm39)	C155F	probably benign	Het
Fam161b	A	T	12: 84,408,464 (GRCm39)		probably null	Het
Fancd2	T	G	6: 113,542,165 (GRCm39)	S770A	probably damaging	Het
Gpt2	G	T	8: 86,252,202 (GRCm39)	V506L	probably benign	Het
Hao2	T	A	3: 98,784,068 (GRCm39)	E327V	probably damaging	Het
Heatr1	G	T	13: 12,449,341 (GRCm39)	L1946F	probably damaging	Het
Hnrnpl	A	G	7: 28,510,436 (GRCm39)		probably benign	Het
Itgb1	T	A	8: 129,439,839 (GRCm39)	I176N	probably damaging	Het
Kif13b	C	T	14: 65,037,849 (GRCm39)	T1505I	probably benign	Het
Magi2	C	T	5: 20,670,907 (GRCm39)	T580M	probably damaging	Het
Mettl3	A	T	14: 52,537,363 (GRCm39)	I102N	probably benign	Het
Mgat4c	A	G	10: 102,220,931 (GRCm39)	H71R	probably damaging	Het
Misp	G	A	10: 79,661,795 (GRCm39)	V71I	probably benign	Het
Muc2	A	G	7: 141,283,590 (GRCm39)	Q734R	probably benign	Het
Muc5b	C	T	7: 141,418,853 (GRCm39)	T3933I	possibly damaging	Het
Myh13	A	G	11: 67,218,014 (GRCm39)	N29S	probably benign	Het
Myo15a	A	T	11: 60,368,398 (GRCm39)	Y386F	probably damaging	Het
Neb	C	A	2: 52,091,927 (GRCm39)	V5046F	probably damaging	Het
Neurod1	T	A	2: 79,284,939 (GRCm39)	N148I	probably damaging	Het
Nrg1	A	T	8: 32,311,411 (GRCm39)	V376E	probably damaging	Het
Nsa2	G	T	13: 97,272,042 (GRCm39)	Q60K	possibly damaging	Het
Odr4	A	G	1: 150,260,282 (GRCm39)	I112T	probably benign	Het
Ppp1r21	T	A	17: 88,884,555 (GRCm39)		probably null	Het
Rala	T	A	13: 18,057,031 (GRCm39)	E185V	probably benign	Het
Robo3	A	G	9: 37,333,521 (GRCm39)	V708A	probably damaging	Het
Rtcb	G	T	10: 85,778,458 (GRCm39)	T395K	possibly damaging	Het
Rttn	A	G	18: 89,056,018 (GRCm39)	T967A	probably benign	Het
Sacs	C	A	14: 61,421,410 (GRCm39)	Q116K	probably damaging	Het
Smarca4	A	G	9: 21,583,355 (GRCm39)	H1062R	possibly damaging	Het
Spatc1l	C	T	10: 76,399,736 (GRCm39)	T86I	probably benign	Het
Thbs4	T	C	13: 92,909,672 (GRCm39)	N375S	probably benign	Het
Tsc1	A	G	2: 28,577,154 (GRCm39)	D1151G	probably damaging	Het
Ttll1	T	C	15: 83,368,419 (GRCm39)	D413G	probably benign	Het
Wap	G	A	11: 6,588,550 (GRCm39)	Q25*	probably null	Het
Wnt16	A	G	6: 22,298,021 (GRCm39)	N296D	probably benign	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
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
R6228:Rhoc	UTSW	3	104,700,297 (GRCm39)	splice site	probably null
R8704:Rhoc	UTSW	3	104,699,342 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCGAGCAGTTAAGATGTTGTTCAG -3'
(R):5'- GCAACAGAAGCCAGGTCTTC -3'

Sequencing Primer
(F):5'- AGTGATTTCAGAGGGCCTCAG -3'
(R):5'- GAAGCCAGGTCTTCTATAGCAGC -3'

Posted On

2015-03-25