Mutagenetix > Incidental Mutation

Incidental Mutation 'R0448:Rcbtb2'

39471

Institutional Source

Beutler Lab

Gene Symbol

Rcbtb2

Ensembl Gene

ENSMUSG00000022106

Gene Name

regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2

Synonyms

Rc/btb2, 2810420M18Rik, 2610028E02Rik, Chc1l

MMRRC Submission

038648-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R0448 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

73376185-73421495 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 73415869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022702] [ENSMUST00000110952] [ENSMUST00000163797] [ENSMUST00000164298] [ENSMUST00000164822] [ENSMUST00000167401] [ENSMUST00000171767] [ENSMUST00000169513] [ENSMUST00000169479] [ENSMUST00000170677]

AlphaFold

Q99LJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000022702

SMART Domains

Protein: ENSMUSP00000022702
Gene: ENSMUSG00000022106

Domain	Start	End	E-Value	Type
Pfam:RCC1	117	167	1.1e-16	PFAM
Pfam:RCC1_2	154	183	7.1e-15	PFAM
Pfam:RCC1	170	220	1.7e-14	PFAM
Pfam:RCC1	223	272	7.1e-18	PFAM
Pfam:RCC1_2	259	288	1.7e-12	PFAM
Pfam:RCC1	275	324	8e-16	PFAM
BTB	394	487	2.69e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110952

SMART Domains

Protein: ENSMUSP00000106577
Gene: ENSMUSG00000022106

Domain	Start	End	E-Value	Type
Pfam:RCC1	117	167	3e-16	PFAM
Pfam:RCC1_2	154	183	7.8e-15	PFAM
Pfam:RCC1	170	220	1.4e-15	PFAM
Pfam:RCC1	223	272	9.4e-18	PFAM
Pfam:RCC1_2	259	288	2.6e-11	PFAM
Pfam:RCC1	275	324	1.2e-13	PFAM
BTB	394	487	2.69e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163797

SMART Domains

Protein: ENSMUSP00000132125
Gene: ENSMUSG00000022106

Domain	Start	End	E-Value	Type
Pfam:RCC1	136	174	7.7e-12	PFAM
low complexity region	199	207	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164298

SMART Domains

Protein: ENSMUSP00000126651
Gene: ENSMUSG00000022106

Domain	Start	End	E-Value	Type
Pfam:RCC1	103	153	2.9e-17	PFAM
Pfam:RCC1_2	140	169	2.2e-15	PFAM
Pfam:RCC1	156	206	4.4e-15	PFAM
Pfam:RCC1	209	247	1.2e-11	PFAM
low complexity region	272	280	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164822

SMART Domains

Protein: ENSMUSP00000131588
Gene: ENSMUSG00000022106

Domain	Start	End	E-Value	Type
Pfam:RCC1	117	167	1.1e-16	PFAM
Pfam:RCC1_2	154	183	7.1e-15	PFAM
Pfam:RCC1	170	220	1.7e-14	PFAM
Pfam:RCC1	223	272	7.1e-18	PFAM
Pfam:RCC1_2	259	288	1.7e-12	PFAM
Pfam:RCC1	275	324	8e-16	PFAM
BTB	394	487	2.69e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166875

SMART Domains

Protein: ENSMUSP00000130168
Gene: ENSMUSG00000022106

Domain	Start	End	E-Value	Type
BTB	32	118	1.03e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167401

Predicted Effect

probably benign
Transcript: ENSMUST00000171767

SMART Domains

Protein: ENSMUSP00000127397
Gene: ENSMUSG00000022106

Domain	Start	End	E-Value	Type
Pfam:RCC1	117	167	1.7e-16	PFAM
Pfam:RCC1_2	154	183	4.9e-15	PFAM
Pfam:RCC1	170	220	8.4e-16	PFAM
Pfam:RCC1	223	272	5.5e-18	PFAM
Pfam:RCC1_2	259	288	1.7e-11	PFAM
Pfam:RCC1	275	324	6.8e-14	PFAM
BTB	394	487	2.69e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169513

SMART Domains

Protein: ENSMUSP00000128579
Gene: ENSMUSG00000022106

Domain	Start	End	E-Value	Type
Pfam:RCC1	93	143	3.1e-16	PFAM
Pfam:RCC1_2	130	159	1.9e-14	PFAM
Pfam:RCC1	146	196	4.7e-14	PFAM
Pfam:RCC1	199	248	1.9e-17	PFAM
Pfam:RCC1_2	235	264	4.4e-12	PFAM
Pfam:RCC1	251	300	2.2e-15	PFAM
BTB	370	463	2.69e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169479

SMART Domains

Protein: ENSMUSP00000126898
Gene: ENSMUSG00000022106

Domain	Start	End	E-Value	Type
Pfam:RCC1	117	167	1.1e-16	PFAM
Pfam:RCC1_2	154	183	7.1e-15	PFAM
Pfam:RCC1	170	220	1.7e-14	PFAM
Pfam:RCC1	223	272	7.1e-18	PFAM
Pfam:RCC1_2	259	288	1.7e-12	PFAM
Pfam:RCC1	275	324	8e-16	PFAM
BTB	394	487	2.69e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170677

SMART Domains

Protein: ENSMUSP00000126510
Gene: ENSMUSG00000022106

Domain	Start	End	E-Value	Type
Pfam:RCC1	93	143	3.1e-16	PFAM
Pfam:RCC1_2	130	159	1.9e-14	PFAM
Pfam:RCC1	146	196	4.7e-14	PFAM
Pfam:RCC1	199	248	1.9e-17	PFAM
Pfam:RCC1_2	235	264	4.4e-12	PFAM
Pfam:RCC1	251	300	2.2e-15	PFAM
BTB	370	463	2.69e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170278

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.1%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing two C-terminal BTB/POZ domains that is related to regulator of chromosome condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor. This gene is observed to be lost or underexpressed in prostate cancers. There is a pseudogene of this gene on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,218,687 (GRCm39)	R232C	probably damaging	Het
Adam9	A	G	8: 25,454,926 (GRCm39)	S732P	probably damaging	Het
Add2	G	A	6: 86,069,901 (GRCm39)	V140I	probably benign	Het
Ahi1	G	A	10: 20,847,974 (GRCm39)	G461S	probably damaging	Het
Aoc1l2	A	T	6: 48,909,991 (GRCm39)	S643C	probably damaging	Het
Arhgef7	A	G	8: 11,869,659 (GRCm39)	T432A	possibly damaging	Het
Arsi	T	C	18: 61,050,374 (GRCm39)	I419T	probably damaging	Het
Brca1	G	A	11: 101,399,047 (GRCm39)	P1515L	possibly damaging	Het
Brcc3	T	A	X: 74,493,647 (GRCm39)	L222*	probably null	Het
Brpf3	A	T	17: 29,025,010 (GRCm39)	T28S	probably benign	Het
Cdc20b	T	A	13: 113,215,191 (GRCm39)	V253E	probably damaging	Het
Cnot6l	T	A	5: 96,227,905 (GRCm39)	S443C	probably benign	Het
Copg1	G	A	6: 87,881,908 (GRCm39)	A587T	probably benign	Het
Crebrf	A	G	17: 26,962,076 (GRCm39)	D391G	probably benign	Het
Crocc	A	T	4: 140,769,502 (GRCm39)	D283E	probably damaging	Het
Cryga	T	C	1: 65,142,318 (GRCm39)	N25S	probably benign	Het
Csnk1g1	T	C	9: 65,888,230 (GRCm39)	F90L	possibly damaging	Het
Cyp2j6	A	G	4: 96,433,965 (GRCm39)	V115A	probably benign	Het
Cyp3a11	T	C	5: 145,799,204 (GRCm39)	I328V	probably benign	Het
Dchs1	C	A	7: 105,415,134 (GRCm39)	E683D	probably benign	Het
Dnah9	T	C	11: 65,809,539 (GRCm39)		probably benign	Het
Dqx1	T	C	6: 83,037,326 (GRCm39)	S330P	probably damaging	Het
Epg5	A	G	18: 78,066,580 (GRCm39)	Y2160C	probably damaging	Het
Ercc5	T	C	1: 44,213,100 (GRCm39)	L742P	probably damaging	Het
Fcgbpl1	T	C	7: 27,839,660 (GRCm39)	I491T	probably benign	Het
Flt1	C	T	5: 147,503,204 (GRCm39)		probably benign	Het
Grip2	A	G	6: 91,756,194 (GRCm39)	S498P	probably damaging	Het
H2-T22	A	G	17: 36,353,278 (GRCm39)	L14P	possibly damaging	Het
Hephl1	C	T	9: 14,988,222 (GRCm39)	G629S	probably damaging	Het
Hsdl2	T	A	4: 59,606,523 (GRCm39)	M162K	unknown	Het
Kcnh8	C	A	17: 53,284,648 (GRCm39)		probably null	Het
Krt76	T	C	15: 101,799,082 (GRCm39)	Q201R	probably damaging	Het
Lrpprc	A	T	17: 85,078,322 (GRCm39)	Y319N	probably benign	Het
Lrrk2	T	G	15: 91,593,508 (GRCm39)	I489R	probably damaging	Het
Mboat1	G	T	13: 30,386,393 (GRCm39)	D136Y	probably damaging	Het
Mcmdc2	T	C	1: 10,010,767 (GRCm39)	*682Q	probably null	Het
Msx2	C	A	13: 53,622,431 (GRCm39)	R193L	probably damaging	Het
Nfatc4	T	G	14: 56,069,111 (GRCm39)	D625E	possibly damaging	Het
Nup153	T	C	13: 46,870,657 (GRCm39)	E86G	probably benign	Het
Or2g7	G	T	17: 38,378,563 (GRCm39)	R167L	probably benign	Het
Or4k45	T	A	2: 111,395,559 (GRCm39)	I77F	probably benign	Het
Pard3b	T	C	1: 62,205,628 (GRCm39)	L474P	probably damaging	Het
Pate11	T	A	9: 36,388,412 (GRCm39)	M79K	probably benign	Het
Pggt1b	A	T	18: 46,396,039 (GRCm39)		probably benign	Het
Pik3r2	A	G	8: 71,224,688 (GRCm39)		probably benign	Het
Prr14	A	G	7: 127,073,898 (GRCm39)		probably benign	Het
Rufy2	G	A	10: 62,840,515 (GRCm39)	D429N	probably benign	Het
S1pr5	T	A	9: 21,155,503 (GRCm39)	T308S	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Serpina12	A	G	12: 104,004,354 (GRCm39)	S93P	probably benign	Het
Serpinb1b	T	G	13: 33,273,675 (GRCm39)	H123Q	probably benign	Het
Sftpc	C	T	14: 70,760,120 (GRCm39)	V46I	probably benign	Het
Skint8	T	A	4: 111,794,087 (GRCm39)	V159D	probably damaging	Het
Slc25a11	T	C	11: 70,536,405 (GRCm39)	N134S	probably benign	Het
Slc25a24	T	C	3: 109,064,332 (GRCm39)		probably benign	Het
Sorl1	C	G	9: 41,915,384 (GRCm39)	V1282L	probably damaging	Het
Sptan1	T	A	2: 29,916,822 (GRCm39)	I2170N	probably damaging	Het
Syne4	A	G	7: 30,014,345 (GRCm39)		probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tg	C	A	15: 66,636,291 (GRCm39)	P626Q	probably damaging	Het
Thoc6	T	A	17: 23,888,550 (GRCm39)	D196V	probably damaging	Het
Tpi1	A	G	6: 124,791,066 (GRCm39)	F57S	probably damaging	Het
Tril	A	G	6: 53,794,793 (GRCm39)	*810Q	probably null	Het
Trrap	T	A	5: 144,776,377 (GRCm39)	V2972D	possibly damaging	Het
Ttn	A	T	2: 76,591,624 (GRCm39)	V12688E	probably damaging	Het
Ttn	T	C	2: 76,551,283 (GRCm39)	M31370V	probably damaging	Het
Txndc11	A	G	16: 10,909,625 (GRCm39)	F307S	probably damaging	Het
Vmn1r40	C	T	6: 89,691,642 (GRCm39)	S153L	probably benign	Het
Vmn2r95	A	G	17: 18,672,005 (GRCm39)	T581A	possibly damaging	Het
Wdtc1	A	G	4: 133,024,811 (GRCm39)	F462S	probably damaging	Het
Zfp101	A	G	17: 33,601,295 (GRCm39)	S154P	possibly damaging	Het
Zmym6	A	G	4: 127,002,487 (GRCm39)	N481D	probably benign	Het

Other mutations in Rcbtb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01981:Rcbtb2	APN	14	73,402,222 (GRCm39)	missense	possibly damaging	0.94
IGL02550:Rcbtb2	APN	14	73,399,459 (GRCm39)	missense	probably damaging	1.00
IGL02800:Rcbtb2	APN	14	73,405,543 (GRCm39)	nonsense	probably null
IGL02811:Rcbtb2	APN	14	73,411,851 (GRCm39)	missense	probably damaging	1.00
R0319:Rcbtb2	UTSW	14	73,415,909 (GRCm39)	missense	probably benign	0.04
R0390:Rcbtb2	UTSW	14	73,415,987 (GRCm39)	missense	probably damaging	0.96
R1298:Rcbtb2	UTSW	14	73,399,828 (GRCm39)	missense	probably damaging	0.99
R1567:Rcbtb2	UTSW	14	73,399,902 (GRCm39)	missense	probably benign	0.07
R2014:Rcbtb2	UTSW	14	73,411,826 (GRCm39)	splice site	probably benign
R2137:Rcbtb2	UTSW	14	73,399,491 (GRCm39)	missense	probably damaging	1.00
R2218:Rcbtb2	UTSW	14	73,416,005 (GRCm39)	critical splice donor site	probably null
R4505:Rcbtb2	UTSW	14	73,411,345 (GRCm39)	missense	probably damaging	1.00
R5832:Rcbtb2	UTSW	14	73,404,262 (GRCm39)	missense	possibly damaging	0.95
R5898:Rcbtb2	UTSW	14	73,399,405 (GRCm39)	nonsense	probably null
R6484:Rcbtb2	UTSW	14	73,414,490 (GRCm39)	missense	probably damaging	0.99
R7252:Rcbtb2	UTSW	14	73,404,220 (GRCm39)	missense	probably damaging	1.00
R7606:Rcbtb2	UTSW	14	73,419,806 (GRCm39)	splice site	probably null
R7654:Rcbtb2	UTSW	14	73,411,941 (GRCm39)	missense	probably benign	0.00
R7762:Rcbtb2	UTSW	14	73,415,906 (GRCm39)	missense	probably benign
R7951:Rcbtb2	UTSW	14	73,403,992 (GRCm39)	nonsense	probably null
R7960:Rcbtb2	UTSW	14	73,399,384 (GRCm39)	missense	probably benign	0.01
R8086:Rcbtb2	UTSW	14	73,411,305 (GRCm39)	missense	probably damaging	1.00
R8366:Rcbtb2	UTSW	14	73,444,632 (GRCm39)	missense	probably benign	0.00
R8696:Rcbtb2	UTSW	14	73,404,305 (GRCm39)	missense	probably damaging	0.99
R9206:Rcbtb2	UTSW	14	73,414,500 (GRCm39)	missense	probably damaging	1.00
R9208:Rcbtb2	UTSW	14	73,414,500 (GRCm39)	missense	probably damaging	1.00
R9237:Rcbtb2	UTSW	14	73,411,936 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTCAGTGTCAGCTCAGCTCAGC -3'
(R):5'- TGTTCCTGAGACACGTTTGATGCC -3'

Sequencing Primer
(F):5'- GTTGCAGAGCTCATTTTGCC -3'
(R):5'- GACACGTTTGATGCCATTATAGTCAC -3'

Posted On

2013-05-23