Mutagenetix > Incidental Mutation

Incidental Mutation 'R9686:Rhobtb2'

728867

Institutional Source

Beutler Lab

Gene Symbol

Rhobtb2

Ensembl Gene

ENSMUSG00000022075

Gene Name

Rho-related BTB domain containing 2

Synonyms

E130206H14Rik, Dbc2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9686 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70022439-70043085 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70034005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 407 (F407L)

Ref Sequence

ENSEMBL: ENSMUSP00000022665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022665]

AlphaFold

Q91V93

Predicted Effect

probably benign
Transcript: ENSMUST00000022665
AA Change: F407L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022665
Gene: ENSMUSG00000022075
AA Change: F407L

Domain	Start	End	E-Value	Type
RHO	17	210	4.86e-36	SMART
low complexity region	227	249	N/A	INTRINSIC
BTB	266	472	5.27e-15	SMART
BTB	500	598	2.78e-14	SMART
low complexity region	706	726	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of some types of breast cancer. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,247,867 (GRCm39)	F1209L	probably benign	Het
Adamts19	A	G	18: 58,971,093 (GRCm39)	T226A	probably benign	Het
Akap13	A	G	7: 75,236,084 (GRCm39)	T220A	probably damaging	Het
Ank2	T	A	3: 126,740,550 (GRCm39)	E1778V	unknown	Het
Aspn	T	C	13: 49,710,829 (GRCm39)	I158T	probably damaging	Het
Btbd1	A	G	7: 81,455,598 (GRCm39)	C258R	probably damaging	Het
Btla	A	G	16: 45,070,872 (GRCm39)	N278S	probably damaging	Het
Cap2	A	G	13: 46,678,926 (GRCm39)	E12G	probably damaging	Het
Ccdc171	A	G	4: 83,467,919 (GRCm39)	Y88C	probably damaging	Het
Ceacam3	C	T	7: 16,892,123 (GRCm39)	L289F		Het
Cenpj	G	A	14: 56,790,048 (GRCm39)	A667V	probably benign	Het
Clu	G	T	14: 66,212,454 (GRCm39)	G136C	probably damaging	Het
Col4a4	A	T	1: 82,474,962 (GRCm39)	F626I	unknown	Het
Csf2ra	A	G	19: 61,213,629 (GRCm39)	F360S	probably damaging	Het
Cyp27b1	T	A	10: 126,886,185 (GRCm39)	S289T	probably benign	Het
Dnah17	G	T	11: 117,979,048 (GRCm39)	H1781Q	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fap	T	C	2: 62,403,857 (GRCm39)	K6R	possibly damaging	Het
Fcer1a	A	G	1: 173,052,980 (GRCm39)	V72A	possibly damaging	Het
Flnc	T	C	6: 29,456,434 (GRCm39)	S2211P	possibly damaging	Het
Gm20939	A	T	17: 95,184,888 (GRCm39)	H512L	probably damaging	Het
Gng12	T	C	6: 66,994,529 (GRCm39)	S59P	probably damaging	Het
Grin1	A	C	2: 25,203,522 (GRCm39)	I163S	probably benign	Het
Haus5	A	G	7: 30,361,398 (GRCm39)	I74T	probably benign	Het
Hmcn1	G	A	1: 150,613,356 (GRCm39)	P1357L	probably damaging	Het
Kcnv1	A	G	15: 44,972,500 (GRCm39)	I461T	probably benign	Het
Kmo	A	G	1: 175,459,786 (GRCm39)	M1V	probably null	Het
Krt80	G	A	15: 101,262,281 (GRCm39)	R107C	probably damaging	Het
Macf1	A	G	4: 123,377,491 (GRCm39)	V1481A	possibly damaging	Het
Masp1	A	G	16: 23,314,887 (GRCm39)	S125P	probably damaging	Het
Mroh2b	C	T	15: 4,974,605 (GRCm39)	P1195L	probably benign	Het
Neurl3	A	T	1: 36,305,539 (GRCm39)	W223R	probably benign	Het
Or10h28	A	G	17: 33,487,853 (GRCm39)	T52A	probably benign	Het
Or5g27	T	A	2: 85,410,340 (GRCm39)	Y252*	probably null	Het
Or5k1b	T	C	16: 58,581,126 (GRCm39)	K138E	possibly damaging	Het
Or5m9	A	T	2: 85,877,335 (GRCm39)	I170F	probably benign	Het
Pcdhb4	A	C	18: 37,442,943 (GRCm39)	Y751S	probably damaging	Het
Pcnx2	C	A	8: 126,592,766 (GRCm39)	A733S	probably benign	Het
Pde4a	A	G	9: 21,117,562 (GRCm39)	E608G	probably benign	Het
Pfdn2	G	A	1: 171,185,377 (GRCm39)	E98K	unknown	Het
Pikfyve	T	A	1: 65,291,615 (GRCm39)	V1278D	probably damaging	Het
Ptprb	A	T	10: 116,204,694 (GRCm39)	T1843S	probably damaging	Het
Rab12	G	T	17: 66,826,513 (GRCm39)	A66E	probably benign	Het
Ralyl	T	C	3: 13,841,887 (GRCm39)		probably benign	Het
Rbm47	A	T	5: 66,179,969 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,743,384 (GRCm39)	D3038E	possibly damaging	Het
S100pbp	A	T	4: 129,049,271 (GRCm39)	D332E	probably damaging	Het
Slc9c1	T	C	16: 45,400,577 (GRCm39)	V729A	possibly damaging	Het
Slfn5	A	T	11: 82,848,001 (GRCm39)	E295D	probably benign	Het
Smarcc2	A	G	10: 128,316,775 (GRCm39)	S518G	probably damaging	Het
Sorbs1	T	C	19: 40,381,954 (GRCm39)	D29G	probably damaging	Het
Spata13	G	A	14: 60,989,108 (GRCm39)	E925K	probably damaging	Het
Spen	A	G	4: 141,199,946 (GRCm39)	S2894P	probably benign	Het
Taar7a	G	A	10: 23,869,309 (GRCm39)	T24I	probably benign	Het
Taf4b	C	A	18: 14,932,215 (GRCm39)	T189N	possibly damaging	Het
Tle7	T	A	8: 110,836,563 (GRCm39)	W180R	probably damaging	Het
Ube2o	A	T	11: 116,434,779 (GRCm39)	C561S	probably benign	Het
Usp34	T	A	11: 23,424,351 (GRCm39)	I3213N		Het
Vmn1r103	A	G	7: 20,244,353 (GRCm39)	V36A	possibly damaging	Het
Vmn2r65	G	A	7: 84,590,084 (GRCm39)	L611F	probably benign	Het
Zfp51	C	T	17: 21,683,871 (GRCm39)	S162F	probably damaging	Het
Zfp518b	G	A	5: 38,831,457 (GRCm39)	H183Y	probably damaging	Het
Zfp622	A	G	15: 25,985,141 (GRCm39)	E169G	probably benign	Het
Zfp703	A	G	8: 27,469,044 (GRCm39)	D236G	probably damaging	Het
Zfp839	A	T	12: 110,821,932 (GRCm39)	I249F	probably damaging	Het

Other mutations in Rhobtb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01482:Rhobtb2	APN	14	70,034,037 (GRCm39)	missense	possibly damaging	0.82
IGL02437:Rhobtb2	APN	14	70,033,365 (GRCm39)	missense	probably damaging	1.00
dichotomy	UTSW	14	70,038,104 (GRCm39)	missense	probably damaging	1.00
gutsy	UTSW	14	70,038,080 (GRCm39)	missense	probably damaging	1.00
Paunchy	UTSW	14	70,035,627 (GRCm39)	missense	probably damaging	1.00
reeses	UTSW	14	70,037,160 (GRCm39)	missense	probably damaging	1.00
smoke	UTSW	14	70,033,893 (GRCm39)	missense	probably damaging	0.99
waft	UTSW	14	70,034,184 (GRCm39)	missense	probably benign	0.22
R0034:Rhobtb2	UTSW	14	70,026,137 (GRCm39)	missense	probably benign
R0149:Rhobtb2	UTSW	14	70,033,357 (GRCm39)	missense	probably benign	0.02
R0361:Rhobtb2	UTSW	14	70,033,357 (GRCm39)	missense	probably benign	0.02
R0376:Rhobtb2	UTSW	14	70,034,184 (GRCm39)	missense	probably benign	0.22
R0594:Rhobtb2	UTSW	14	70,031,397 (GRCm39)	missense	probably benign
R1005:Rhobtb2	UTSW	14	70,035,726 (GRCm39)	missense	probably damaging	1.00
R1072:Rhobtb2	UTSW	14	70,024,976 (GRCm39)	small deletion	probably benign
R1929:Rhobtb2	UTSW	14	70,033,893 (GRCm39)	missense	probably damaging	0.99
R1938:Rhobtb2	UTSW	14	70,034,062 (GRCm39)	missense	probably benign	0.01
R2058:Rhobtb2	UTSW	14	70,031,488 (GRCm39)	missense	possibly damaging	0.49
R2244:Rhobtb2	UTSW	14	70,024,976 (GRCm39)	small deletion	probably benign
R2992:Rhobtb2	UTSW	14	70,035,772 (GRCm39)	missense	probably damaging	1.00
R3953:Rhobtb2	UTSW	14	70,031,488 (GRCm39)	missense	possibly damaging	0.49
R4655:Rhobtb2	UTSW	14	70,033,438 (GRCm39)	missense	probably damaging	0.97
R4712:Rhobtb2	UTSW	14	70,037,160 (GRCm39)	missense	probably damaging	1.00
R4744:Rhobtb2	UTSW	14	70,031,451 (GRCm39)	missense	probably damaging	1.00
R4771:Rhobtb2	UTSW	14	70,034,499 (GRCm39)	missense	probably benign	0.20
R5648:Rhobtb2	UTSW	14	70,034,593 (GRCm39)	missense	probably damaging	1.00
R5990:Rhobtb2	UTSW	14	70,033,818 (GRCm39)	missense	probably damaging	1.00
R6166:Rhobtb2	UTSW	14	70,035,627 (GRCm39)	missense	probably damaging	1.00
R6186:Rhobtb2	UTSW	14	70,035,693 (GRCm39)	missense	probably damaging	1.00
R7448:Rhobtb2	UTSW	14	70,033,397 (GRCm39)	nonsense	probably null
R7591:Rhobtb2	UTSW	14	70,037,190 (GRCm39)	missense	possibly damaging	0.61
R7626:Rhobtb2	UTSW	14	70,034,386 (GRCm39)	missense	probably damaging	1.00
R7793:Rhobtb2	UTSW	14	70,034,280 (GRCm39)	missense	probably benign	0.01
R7898:Rhobtb2	UTSW	14	70,033,746 (GRCm39)	missense	probably damaging	1.00
R8026:Rhobtb2	UTSW	14	70,034,214 (GRCm39)	missense	probably benign	0.41
R8109:Rhobtb2	UTSW	14	70,038,080 (GRCm39)	missense	probably damaging	1.00
R8182:Rhobtb2	UTSW	14	70,034,070 (GRCm39)	missense	probably benign
R8687:Rhobtb2	UTSW	14	70,038,104 (GRCm39)	missense	probably damaging	1.00
R8704:Rhobtb2	UTSW	14	70,031,373 (GRCm39)	missense	probably damaging	1.00
R9166:Rhobtb2	UTSW	14	70,034,703 (GRCm39)	missense	probably damaging	1.00
R9303:Rhobtb2	UTSW	14	70,025,376 (GRCm39)	missense	probably damaging	1.00
R9304:Rhobtb2	UTSW	14	70,025,376 (GRCm39)	missense	probably damaging	1.00
R9627:Rhobtb2	UTSW	14	70,034,349 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGATTCATGAAGGCTTCGTTG -3'
(R):5'- CCAGCTTTGACGTATGTGAGAG -3'

Sequencing Primer
(F):5'- TGAGAATGTTGGCCACCATC -3'
(R):5'- AGTGTGGATGAGGCCGGC -3'

Posted On

2022-10-06