Mutagenetix > Incidental Mutation

Incidental Mutation 'R0149:Rhobtb2'

22751

Institutional Source

Beutler Lab

Gene Symbol

Rhobtb2

Ensembl Gene

ENSMUSG00000022075

Gene Name

Rho-related BTB domain containing 2

Synonyms

E130206H14Rik, Dbc2

MMRRC Submission

038433-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0149 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

70022439-70043085 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70033357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 538 (T538A)

Ref Sequence

ENSEMBL: ENSMUSP00000022665 (fasta)

Gene Model

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

AlphaFold

Q91V93

Predicted Effect

probably benign
Transcript: ENSMUST00000022665
AA Change: T538A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000022665
Gene: ENSMUSG00000022075
AA Change: T538A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225088

Meta Mutation Damage Score

0.0701

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

97% (84/87)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	C	8: 12,330,000 (GRCm39)	S152R	unknown	Het
Acsbg2	A	G	17: 57,160,924 (GRCm39)		probably benign	Het
Adam6a	G	T	12: 113,509,369 (GRCm39)	V581F	probably damaging	Het
Adgrl3	A	T	5: 81,908,544 (GRCm39)	I1165F	probably damaging	Het
Aldh1l1	A	G	6: 90,566,396 (GRCm39)	K656E	possibly damaging	Het
Ankhd1	T	C	18: 36,780,267 (GRCm39)	I1773T	probably damaging	Het
Api5	A	T	2: 94,253,842 (GRCm39)	L287*	probably null	Het
Ascc3	A	T	10: 50,484,089 (GRCm39)	N55I	probably benign	Het
Cav1	C	A	6: 17,339,352 (GRCm39)	R146S	possibly damaging	Het
Cdhr2	A	T	13: 54,881,820 (GRCm39)	I1118F	probably damaging	Het
Cemip	A	G	7: 83,613,218 (GRCm39)	I660T	probably benign	Het
Clk1	T	A	1: 58,453,760 (GRCm39)	N305Y	probably damaging	Het
Cux1	T	A	5: 136,308,351 (GRCm39)	I1263F	probably damaging	Het
Cyp2d26	A	G	15: 82,676,968 (GRCm39)	L152P	probably damaging	Het
Dmtf1	A	G	5: 9,182,571 (GRCm39)	S188P	probably damaging	Het
Dock2	A	G	11: 34,388,327 (GRCm39)	L202P	probably damaging	Het
Dscaml1	T	G	9: 45,653,978 (GRCm39)	Y1418*	probably null	Het
Efemp2	A	T	19: 5,527,988 (GRCm39)	H107L	probably damaging	Het
Eng	T	C	2: 32,562,397 (GRCm39)		probably null	Het
Erc1	A	T	6: 119,801,791 (GRCm39)	S75R	probably damaging	Het
Fgl2	A	T	5: 21,580,783 (GRCm39)	D375V	probably damaging	Het
Fpr-rs6	T	C	17: 20,402,475 (GRCm39)	I295M	probably benign	Het
Fsip2	T	C	2: 82,805,849 (GRCm39)	S723P	possibly damaging	Het
Gdpd5	A	G	7: 99,107,997 (GRCm39)	I530V	possibly damaging	Het
Gm15217	T	A	14: 46,617,841 (GRCm39)		probably benign	Het
Gm4922	T	C	10: 18,659,289 (GRCm39)	T478A	probably benign	Het
Gmcl1	A	T	6: 86,709,891 (GRCm39)		probably null	Het
Has1	T	C	17: 18,070,433 (GRCm39)	T163A	probably damaging	Het
Hmcn1	A	T	1: 150,553,075 (GRCm39)	N2538K	probably benign	Het
Itga2	A	G	13: 114,973,115 (GRCm39)		probably benign	Het
Kcnip1	A	T	11: 33,793,177 (GRCm39)	M5K	probably benign	Het
Kcnk4	T	C	19: 6,903,562 (GRCm39)	E329G	probably benign	Het
Kcnt1	T	C	2: 25,788,276 (GRCm39)		probably benign	Het
Klkb1	A	G	8: 45,729,100 (GRCm39)	C375R	probably damaging	Het
Loxl2	C	A	14: 69,930,527 (GRCm39)	H764N	probably benign	Het
Lrrc55	A	T	2: 85,026,589 (GRCm39)	M145K	probably damaging	Het
Lrrtm2	A	G	18: 35,345,985 (GRCm39)	I439T	probably benign	Het
Magi1	A	T	6: 93,724,226 (GRCm39)	I263N	probably damaging	Het
Map4	C	T	9: 109,896,692 (GRCm39)	P641L	probably damaging	Het
Mars1	A	T	10: 127,135,903 (GRCm39)	N558K	probably damaging	Het
Mfap2	A	G	4: 140,742,294 (GRCm39)	D98G	probably damaging	Het
Mgat5b	A	G	11: 116,875,965 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,300,153 (GRCm39)	V1627D	probably benign	Het
Mtnr1a	A	T	8: 45,522,352 (GRCm39)	I36F	probably benign	Het
Myh15	A	T	16: 48,934,368 (GRCm39)	N645I	probably benign	Het
Myo7b	T	A	18: 32,147,262 (GRCm39)	I94F	probably damaging	Het
Nefh	A	T	11: 4,890,799 (GRCm39)	S607T	probably benign	Het
Ngf	T	A	3: 102,427,762 (GRCm39)	H174Q	probably benign	Het
Noa1	G	A	5: 77,445,020 (GRCm39)	Q600*	probably null	Het
Nr2f2	A	G	7: 70,007,810 (GRCm39)	V71A	possibly damaging	Het
Oas2	A	T	5: 120,876,466 (GRCm39)	F492L	probably damaging	Het
Or2y17	A	T	11: 49,231,641 (GRCm39)	Y94F	probably benign	Het
Or8g21	T	A	9: 38,905,880 (GRCm39)	M284L	probably benign	Het
Osmr	A	G	15: 6,871,432 (GRCm39)		probably null	Het
P4ha1	A	G	10: 59,184,221 (GRCm39)	T228A	probably damaging	Het
Pip5kl1	T	C	2: 32,468,966 (GRCm39)	V195A	possibly damaging	Het
Plagl2	A	T	2: 153,073,523 (GRCm39)	D459E	probably benign	Het
Plxna1	T	C	6: 89,297,595 (GRCm39)	E1863G	probably null	Het
Prdm10	T	G	9: 31,227,455 (GRCm39)		probably benign	Het
Prr14l	A	C	5: 32,950,985 (GRCm39)	L1936R	probably damaging	Het
Rgs1	T	C	1: 144,124,825 (GRCm39)		probably benign	Het
Rgsl1	A	G	1: 153,669,510 (GRCm39)	F292S	probably damaging	Het
Rictor	A	G	15: 6,813,588 (GRCm39)	N1025D	possibly damaging	Het
Rsph10b	T	A	5: 143,875,727 (GRCm39)		probably benign	Het
Rwdd4a	A	G	8: 47,997,255 (GRCm39)	D158G	probably null	Het
Sdk1	T	C	5: 141,842,809 (GRCm39)		probably benign	Het
Serpina3n	A	C	12: 104,377,635 (GRCm39)	K296T	probably benign	Het
Slco1a8	T	C	6: 141,938,203 (GRCm39)	T239A	probably benign	Het
Snw1	A	G	12: 87,508,687 (GRCm39)	V124A	possibly damaging	Het
Tas2r140	T	G	6: 40,468,232 (GRCm39)	F21V	probably benign	Het
Tmc6	G	A	11: 117,660,274 (GRCm39)	L655F	probably damaging	Het
Tmem260	A	T	14: 48,689,504 (GRCm39)	T108S	possibly damaging	Het
Trim2	T	C	3: 84,098,083 (GRCm39)	Y406C	probably damaging	Het
Tsc1	T	C	2: 28,560,913 (GRCm39)	I257T	probably damaging	Het
Ttn	T	C	2: 76,673,746 (GRCm39)		probably benign	Het
Unc80	T	A	1: 66,560,760 (GRCm39)	N829K	possibly damaging	Het
Vmn1r235	A	C	17: 21,482,257 (GRCm39)	D194A	probably damaging	Het
Vmn2r100	A	T	17: 19,741,509 (GRCm39)		probably null	Het
Ylpm1	G	T	12: 85,075,612 (GRCm39)	R321L	probably damaging	Het
Zan	T	C	5: 137,395,028 (GRCm39)	T4381A	unknown	Het
Zfp457	A	G	13: 67,440,710 (GRCm39)	F622L	probably damaging	Het
Zfy1	T	C	Y: 726,121 (GRCm39)	H548R	possibly damaging	Het
Zmym4	A	T	4: 126,804,938 (GRCm39)	S441T	probably benign	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
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
R9686:Rhobtb2	UTSW	14	70,034,005 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCATGTGTCTTAGGGAAGCCACAG -3'
(R):5'- GCCGATTCTCCAGCATATCCACTG -3'

Sequencing Primer
(F):5'- gcgtaacttctcagggcatc -3'
(R):5'- ATATCCACTGTGTCCTTACACGATG -3'

Posted On

2013-04-16