Mutagenetix > Incidental Mutation

Incidental Mutation 'R7762:Rcbtb2'

597970

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, Chc1l, 2610028E02Rik, 2810420M18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R7762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73123037-73207843 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 73178466 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 473 (T473N)

Ref Sequence

ENSEMBL: ENSMUSP00000131588 (fasta)

Gene Model

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

AlphaFold

Q99LJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000022702
AA Change: T473N

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

SMART Domains

Protein: ENSMUSP00000022702
Gene: ENSMUSG00000022106
AA Change: T473N

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
AA Change: T473N

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

SMART Domains

Protein: ENSMUSP00000106577
Gene: ENSMUSG00000022106
AA Change: T473N

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
AA Change: T473N

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

SMART Domains

Protein: ENSMUSP00000131588
Gene: ENSMUSG00000022106
AA Change: T473N

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: ENSMUST00000169479
AA Change: T473N

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

SMART Domains

Protein: ENSMUSP00000126898
Gene: ENSMUSG00000022106
AA Change: T473N

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: ENSMUST00000169513
AA Change: T449N

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

SMART Domains

Protein: ENSMUSP00000128579
Gene: ENSMUSG00000022106
AA Change: T449N

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: ENSMUST00000170677
AA Change: T449N

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

SMART Domains

Protein: ENSMUSP00000126510
Gene: ENSMUSG00000022106
AA Change: T449N

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: ENSMUST00000171767
AA Change: T473N

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

SMART Domains

Protein: ENSMUSP00000127397
Gene: ENSMUSG00000022106
AA Change: T473N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,932,686	V622I	probably benign	Het
9130011E15Rik	A	G	19: 45,940,443		probably null	Het
Acod1	T	G	14: 103,051,340	D95E	probably damaging	Het
Agpat4	A	G	17: 12,210,322	T154A	possibly damaging	Het
Ahnak2	A	T	12: 112,775,680	S653T	probably benign	Het
Aox2	C	T	1: 58,349,104	P1124S	probably damaging	Het
Atp4a	T	C	7: 30,720,036	I637T	probably damaging	Het
Atxn7	T	A	14: 14,100,467	C718S	probably damaging	Het
Btbd2	T	A	10: 80,643,556	I516F	probably damaging	Het
Card6	A	G	15: 5,105,338	S128P	probably benign	Het
Cat	T	C	2: 103,456,858	K476E	probably benign	Het
Ccr9	A	T	9: 123,779,957	T235S	probably benign	Het
Cep55	T	G	19: 38,069,069		probably null	Het
Clec2e	A	G	6: 129,095,128	F96S	possibly damaging	Het
Clk2	G	A	3: 89,167,191	V53I	probably benign	Het
Clnk	T	C	5: 38,768,141	M106V	probably benign	Het
Col6a5	T	C	9: 105,931,324	I842V	unknown	Het
Csf1r	A	T	18: 61,110,500	N196I	probably benign	Het
D5Ertd579e	A	T	5: 36,613,381	N116K		Het
Dnaja4	A	G	9: 54,709,210	I166V	probably benign	Het
Dqx1	A	G	6: 83,061,032	E467G	probably damaging	Het
Dync2h1	T	C	9: 7,129,719	T1760A	probably benign	Het
Eea1	T	C	10: 96,028,439	V940A	probably benign	Het
Egr1	T	A	18: 34,863,545	V460E	probably damaging	Het
Eral1	A	G	11: 78,074,533	I352T	possibly damaging	Het
F2	T	C	2: 91,628,696	H476R	possibly damaging	Het
Fam83b	A	G	9: 76,492,432	V463A	possibly damaging	Het
Fat1	T	C	8: 45,023,322	S1802P	probably damaging	Het
Fat1	T	A	8: 45,037,337	L3762H	probably damaging	Het
Fibp	A	T	19: 5,464,174	N296Y	probably benign	Het
Figla	A	G	6: 86,017,326	M28V	probably benign	Het
Foxd3	C	A	4: 99,657,125	Y167*	probably null	Het
Gm17019	T	A	5: 15,030,992	H145L	probably benign	Het
Gm340	T	C	19: 41,583,667	L287S	probably benign	Het
Gm48552	C	T	10: 81,390,435	P18L	probably damaging	Het
Gm9573	G	A	17: 35,622,085	T403I	unknown	Het
H2-Q6	A	G	17: 35,428,101	N283S	probably benign	Het
Hrh2	T	A	13: 54,214,039	C11*	probably null	Het
Hrnr	G	T	3: 93,332,199	G3248V	unknown	Het
Iapp	C	A	6: 142,303,396	N58K	possibly damaging	Het
Itga5	T	C	15: 103,349,757	N837S	probably benign	Het
Klhl35	C	A	7: 99,468,440	H64N	probably benign	Het
Lrba	T	A	3: 86,532,201	V2015E	probably damaging	Het
Mdn1	T	C	4: 32,734,421	I3276T	probably benign	Het
Mlh3	G	T	12: 85,268,284	T376K	possibly damaging	Het
Nbea	A	T	3: 55,649,705	H2550Q	probably damaging	Het
Nid1	G	A	13: 13,489,045	G763D	probably damaging	Het
Ntf5	C	A	7: 45,415,819	A125E	probably damaging	Het
Obsl1	A	T	1: 75,503,523	C460S	probably benign	Het
Olfr1272	T	A	2: 90,296,631	K77*	probably null	Het
Olfr130	G	A	17: 38,067,675	C168Y	probably damaging	Het
Olfr1380	T	A	11: 49,564,761	I280N	possibly damaging	Het
Olfr1496	A	T	19: 13,781,286	R223W	probably damaging	Het
Olfr348	A	T	2: 36,787,010	I162F	probably benign	Het
Olfr820	A	G	10: 130,017,181		probably benign	Het
Olfr933	G	A	9: 38,976,194	V173I	probably benign	Het
Orai3	G	A	7: 127,773,571	G130S	unknown	Het
Pcdhb12	T	G	18: 37,435,924	V41G	probably damaging	Het
Plec	A	T	15: 76,183,623	L1194Q	unknown	Het
Pml	C	A	9: 58,220,173	C763F	probably damaging	Het
Prdm15	T	A	16: 97,818,273	I318F	probably benign	Het
Sbno1	T	A	5: 124,374,666	I1347F	probably benign	Het
Secisbp2l	C	T	2: 125,768,193	D269N	probably damaging	Het
Serpina9	A	T	12: 104,001,316	F273L	probably damaging	Het
Sgms2	T	A	3: 131,323,249	Y319F	probably benign	Het
Sgo2b	A	T	8: 63,926,497	H1100Q	probably benign	Het
Sh3bp5l	A	T	11: 58,345,928		probably null	Het
Shh	T	G	5: 28,466,666	K33T	probably benign	Het
Slc5a9	A	G	4: 111,890,174	Y339H	probably damaging	Het
Spice1	T	A	16: 44,370,501		probably null	Het
Tbx2	A	G	11: 85,835,901	E257G	probably damaging	Het
Tenm2	G	A	11: 36,023,306	T2468I	possibly damaging	Het
Tmeff2	A	T	1: 50,979,416	N186Y	probably benign	Het
Tmem132c	T	C	5: 127,554,696	V673A	possibly damaging	Het
Trappc11	G	T	8: 47,522,376	T269K	probably damaging	Het
Trpc6	T	C	9: 8,653,149	F652S	possibly damaging	Het
Trpv1	G	T	11: 73,254,222	K711N	probably benign	Het
Vcan	G	T	13: 89,692,937	P1496Q	probably damaging	Het
Vmn1r192	G	T	13: 22,187,675	A125E	probably damaging	Het
Vti1b	A	T	12: 79,164,946		probably null	Het
Vwa3b	A	C	1: 37,124,045	D583A	probably damaging	Het
Zfp638	T	C	6: 83,976,272	S1120P	probably damaging	Het
Zfyve26	A	T	12: 79,268,635	F1356I	probably benign	Het

Other mutations in Rcbtb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01981:Rcbtb2	APN	14	73164782	missense	possibly damaging	0.94
IGL02550:Rcbtb2	APN	14	73162019	missense	probably damaging	1.00
IGL02800:Rcbtb2	APN	14	73168103	nonsense	probably null
IGL02811:Rcbtb2	APN	14	73174411	missense	probably damaging	1.00
R0319:Rcbtb2	UTSW	14	73178469	missense	probably benign	0.04
R0390:Rcbtb2	UTSW	14	73178547	missense	probably damaging	0.96
R0448:Rcbtb2	UTSW	14	73178429	splice site	probably benign
R1298:Rcbtb2	UTSW	14	73162388	missense	probably damaging	0.99
R1567:Rcbtb2	UTSW	14	73162462	missense	probably benign	0.07
R2014:Rcbtb2	UTSW	14	73174386	splice site	probably benign
R2137:Rcbtb2	UTSW	14	73162051	missense	probably damaging	1.00
R2218:Rcbtb2	UTSW	14	73178565	critical splice donor site	probably null
R4505:Rcbtb2	UTSW	14	73173905	missense	probably damaging	1.00
R5832:Rcbtb2	UTSW	14	73166822	missense	possibly damaging	0.95
R5898:Rcbtb2	UTSW	14	73161965	nonsense	probably null
R6484:Rcbtb2	UTSW	14	73177050	missense	probably damaging	0.99
R7252:Rcbtb2	UTSW	14	73166780	missense	probably damaging	1.00
R7606:Rcbtb2	UTSW	14	73182366	splice site	probably null
R7654:Rcbtb2	UTSW	14	73174501	missense	probably benign	0.00
R7951:Rcbtb2	UTSW	14	73166552	nonsense	probably null
R7960:Rcbtb2	UTSW	14	73161944	missense	probably benign	0.01
R8086:Rcbtb2	UTSW	14	73173865	missense	probably damaging	1.00
R8366:Rcbtb2	UTSW	14	73207192	missense	probably benign	0.00
R8696:Rcbtb2	UTSW	14	73166865	missense	probably damaging	0.99
R9206:Rcbtb2	UTSW	14	73177060	missense	probably damaging	1.00
R9208:Rcbtb2	UTSW	14	73177060	missense	probably damaging	1.00
R9237:Rcbtb2	UTSW	14	73174496	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGTGTCAGCTCAGCTCAG -3'
(R):5'- GACACGTTTGATGCCATTATAGTC -3'

Sequencing Primer
(F):5'- AGCTCAGCTGTCTTCCCGG -3'
(R):5'- TGATGCCATTATAGTCACATAAGTTC -3'

Posted On

2019-11-26