Mutagenetix > Incidental Mutation

Incidental Mutation 'R6312:Cct2'

509834

Institutional Source

Beutler Lab

Gene Symbol

Cct2

Ensembl Gene

ENSMUSG00000034024

Gene Name

chaperonin containing Tcp1, subunit 2 (beta)

Synonyms

Cctb

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R6312 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117051001-117063814 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117056055 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 363 (S363T)

Ref Sequence

ENSEMBL: ENSMUSP00000036288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047672] [ENSMUST00000219036] [ENSMUST00000219573]

AlphaFold

P80314

Predicted Effect

probably benign
Transcript: ENSMUST00000047672
AA Change: S363T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000036288
Gene: ENSMUSG00000034024
AA Change: S363T

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	35	525	3.2e-150	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218502

Predicted Effect

probably benign
Transcript: ENSMUST00000219036

Predicted Effect

probably benign
Transcript: ENSMUST00000219573

Predicted Effect

probably benign
Transcript: ENSMUST00000219690

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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 molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,889,767	S472P	possibly damaging	Het
9430007A20Rik	A	T	4: 144,528,502	H164L	probably benign	Het
Abraxas2	G	A	7: 132,874,965	A145T	probably damaging	Het
AC153874.1	T	A	10: 77,847,127		probably benign	Het
Acadvl	T	A	11: 70,011,767	M375L	probably damaging	Het
Ankdd1a	C	T	9: 65,508,061	A227T	possibly damaging	Het
Arl4d	T	C	11: 101,667,253	*202R	probably null	Het
B3gat2	G	T	1: 23,815,467	E83*	probably null	Het
BC017158	T	C	7: 128,273,543	K411R	probably benign	Het
Bmper	C	A	9: 23,406,791	Q569K	possibly damaging	Het
C2cd4d	C	A	3: 94,364,435	P336H	probably damaging	Het
Cers5	A	G	15: 99,747,115	V119A	probably benign	Het
Cfhr2	C	T	1: 139,831,079	V78I	possibly damaging	Het
Crocc2	A	T	1: 93,215,710	K1345*	probably null	Het
Cyp4f39	T	C	17: 32,483,294	M255T	probably benign	Het
Dpp6	A	T	5: 27,725,671	I834F	possibly damaging	Het
Dpy19l4	T	A	4: 11,289,671	K205*	probably null	Het
Epg5	T	A	18: 77,979,211	D1056E	possibly damaging	Het
Fam20a	A	C	11: 109,674,630	C452G	probably damaging	Het
Gnai2	A	T	9: 107,635,117	V34E	probably damaging	Het
Gng3	A	G	19: 8,838,633	V7A	probably benign	Het
Hdc	A	G	2: 126,607,406	V77A	possibly damaging	Het
Hint1	G	A	11: 54,869,990	C85Y	probably benign	Het
Kif17	C	T	4: 138,288,193	S551L	probably benign	Het
Lgr5	A	G	10: 115,452,924	L581P	probably damaging	Het
Lig4	G	T	8: 9,971,739	N680K	probably benign	Het
Lipi	T	A	16: 75,573,915	Y138F	probably damaging	Het
Lrp2	C	T	2: 69,436,681	G4294E	probably damaging	Het
Lrrc7	A	G	3: 158,160,609	M1165T	probably benign	Het
Mtpap	T	C	18: 4,396,175	I489T	possibly damaging	Het
Nlrp1b	T	A	11: 71,228,397	N24I	probably benign	Het
Nlrp4a	A	G	7: 26,449,396	T143A	probably benign	Het
Nudt2	A	G	4: 41,480,386	T90A	probably benign	Het
Olfr1055	A	T	2: 86,347,581	F62I	probably damaging	Het
Olfr352	A	T	2: 36,870,465	I300L	probably benign	Het
Olfr659	T	A	7: 104,671,589	Y296N	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Olfr883	TTGCTGT	TTGCTGTCTGCTGT	9: 38,026,541		probably null	Het
Olfr883	GTTT	GTTTGCTGTTTT	9: 38,026,546		probably null	Het
Olfr883	TTT	TTTGCTGATT	9: 38,026,547		probably null	Het
Olfr883	T	TGCTGTTC	9: 38,026,549		probably null	Het
Osmr	A	G	15: 6,823,638	V592A	probably damaging	Het
Rbp2	G	T	9: 98,490,647	S13I	probably benign	Het
Rsf1	A	AGGGCGACGG	7: 97,579,904		probably null	Het
Slc6a7	A	G	18: 61,002,385	S381P	probably benign	Het
Slitrk6	A	G	14: 110,750,247	L676P	probably benign	Het
Sspo	T	C	6: 48,457,366		probably null	Het
Tectb	CT	C	19: 55,192,662		probably null	Homo
Tma16	T	C	8: 66,481,466	E79G	probably damaging	Het
Trim14	G	T	4: 46,507,257	H320N	probably damaging	Het
Trim63	A	G	4: 134,325,697	D323G	probably damaging	Het
Vash2	C	A	1: 190,958,683	R309L	probably benign	Het
Vmn1r62	G	A	7: 5,676,084	V255M	possibly damaging	Het
Vmn2r53	T	A	7: 12,598,639		probably null	Het
Zfp382	G	A	7: 30,134,538	R538H	probably damaging	Het
Zfp592	T	A	7: 81,023,436	D49E	probably benign	Het
Zfp60	T	C	7: 27,748,776	C290R	probably damaging	Het
Zfp69	G	A	4: 120,949,517		probably benign	Het
Zfp790	G	T	7: 29,828,222	G111W	probably damaging	Het
Zfp948	T	C	17: 21,587,167	I207T	possibly damaging	Het

Other mutations in Cct2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02111:Cct2	APN	10	117053112	missense	probably damaging	0.99
IGL02150:Cct2	APN	10	117062099	missense	probably damaging	0.99
IGL02349:Cct2	APN	10	117053139	missense	probably benign	0.04
IGL03010:Cct2	APN	10	117058114	missense	probably damaging	1.00
IGL03155:Cct2	APN	10	117060671	missense	probably damaging	0.99
R0507:Cct2	UTSW	10	117055246	splice site	probably null
R0742:Cct2	UTSW	10	117055246	splice site	probably null
R1102:Cct2	UTSW	10	117060640	splice site	probably null
R1438:Cct2	UTSW	10	117054992	unclassified	probably benign
R2040:Cct2	UTSW	10	117053113	missense	probably benign	0.00
R2157:Cct2	UTSW	10	117062809	splice site	probably benign
R2227:Cct2	UTSW	10	117053017	missense	probably null	0.18
R3410:Cct2	UTSW	10	117062063	missense	probably benign	0.01
R3981:Cct2	UTSW	10	117054135	missense	probably damaging	1.00
R3983:Cct2	UTSW	10	117054135	missense	probably damaging	1.00
R4364:Cct2	UTSW	10	117055151	missense	probably damaging	1.00
R4401:Cct2	UTSW	10	117057809	missense	possibly damaging	0.61
R6162:Cct2	UTSW	10	117058186	missense	probably damaging	0.99
R6300:Cct2	UTSW	10	117056159	missense	probably damaging	0.96
R7075:Cct2	UTSW	10	117061465	missense	unknown
R7198:Cct2	UTSW	10	117053124	missense	probably benign
R7236:Cct2	UTSW	10	117061559	missense	probably benign	0.00
R8373:Cct2	UTSW	10	117060824	missense	possibly damaging	0.95
R8803:Cct2	UTSW	10	117058185	missense	probably benign	0.00
R8859:Cct2	UTSW	10	117060834	missense	possibly damaging	0.63
R9182:Cct2	UTSW	10	117056120	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGCCCTCATAAGACACATATATCCAG -3'
(R):5'- GGGTCAAGTATGTACCTTGTGC -3'

Sequencing Primer
(F):5'- TAGTATGAGTACACTGCCGCTGAC -3'
(R):5'- GTACCTTGTGCTTGATTTGACATATC -3'

Posted On

2018-04-02