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

Synonyms

Cctb

MMRRC Submission

044415-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R6312 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116886906-116899719 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116891960 bp (GRCm39)

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: 72,936,541 (GRCm39)	S472P	possibly damaging	Het
Aadacl4fm1	A	T	4: 144,255,072 (GRCm39)	H164L	probably benign	Het
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
AC153874.1	T	A	10: 77,682,961 (GRCm39)		probably benign	Het
Acadvl	T	A	11: 69,902,593 (GRCm39)	M375L	probably damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arl4d	T	C	11: 101,558,079 (GRCm39)	*202R	probably null	Het
B3gat2	G	T	1: 23,854,548 (GRCm39)	E83*	probably null	Het
Bmper	C	A	9: 23,318,087 (GRCm39)	Q569K	possibly damaging	Het
C2cd4d	C	A	3: 94,271,742 (GRCm39)	P336H	probably damaging	Het
Cers5	A	G	15: 99,644,996 (GRCm39)	V119A	probably benign	Het
Cfhr2	C	T	1: 139,758,817 (GRCm39)	V78I	possibly damaging	Het
Crocc2	A	T	1: 93,143,432 (GRCm39)	K1345*	probably null	Het
Cyp4f39	T	C	17: 32,702,268 (GRCm39)	M255T	probably benign	Het
Dpp6	A	T	5: 27,930,669 (GRCm39)	I834F	possibly damaging	Het
Dpy19l4	T	A	4: 11,289,671 (GRCm39)	K205*	probably null	Het
Epg5	T	A	18: 78,022,426 (GRCm39)	D1056E	possibly damaging	Het
Fam20a	A	C	11: 109,565,456 (GRCm39)	C452G	probably damaging	Het
Gnai2	A	T	9: 107,512,316 (GRCm39)	V34E	probably damaging	Het
Gng3	A	G	19: 8,815,997 (GRCm39)	V7A	probably benign	Het
Hdc	A	G	2: 126,449,326 (GRCm39)	V77A	possibly damaging	Het
Hint1	G	A	11: 54,760,816 (GRCm39)	C85Y	probably benign	Het
Kif17	C	T	4: 138,015,504 (GRCm39)	S551L	probably benign	Het
Lgr5	A	G	10: 115,288,829 (GRCm39)	L581P	probably damaging	Het
Lig4	G	T	8: 10,021,739 (GRCm39)	N680K	probably benign	Het
Lipi	T	A	16: 75,370,803 (GRCm39)	Y138F	probably damaging	Het
Lrp2	C	T	2: 69,267,025 (GRCm39)	G4294E	probably damaging	Het
Lrrc7	A	G	3: 157,866,246 (GRCm39)	M1165T	probably benign	Het
Mtpap	T	C	18: 4,396,175 (GRCm39)	I489T	possibly damaging	Het
Nlrp1b	T	A	11: 71,119,223 (GRCm39)	N24I	probably benign	Het
Nlrp4a	A	G	7: 26,148,821 (GRCm39)	T143A	probably benign	Het
Nudt2	A	G	4: 41,480,386 (GRCm39)	T90A	probably benign	Het
Or1j20	A	T	2: 36,760,477 (GRCm39)	I300L	probably benign	Het
Or52n20	T	A	7: 104,320,796 (GRCm39)	Y296N	probably damaging	Het
Or8b36	GTTT	GTTTGCTGTTTT	9: 37,937,842 (GRCm39)		probably null	Het
Or8b36	TTT	TTTGCTGATT	9: 37,937,843 (GRCm39)		probably null	Het
Or8b36	T	TGCTGTTC	9: 37,937,845 (GRCm39)		probably null	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8b36	TTGCTGT	TTGCTGTCTGCTGT	9: 37,937,837 (GRCm39)		probably null	Het
Or8k53	A	T	2: 86,177,925 (GRCm39)	F62I	probably damaging	Het
Osmr	A	G	15: 6,853,119 (GRCm39)	V592A	probably damaging	Het
Rbp2	G	T	9: 98,372,700 (GRCm39)	S13I	probably benign	Het
Rsf1	A	AGGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Rusf1	T	C	7: 127,872,715 (GRCm39)	K411R	probably benign	Het
Slc6a7	A	G	18: 61,135,457 (GRCm39)	S381P	probably benign	Het
Slitrk6	A	G	14: 110,987,679 (GRCm39)	L676P	probably benign	Het
Sspo	T	C	6: 48,434,300 (GRCm39)		probably null	Het
Tectb	CT	C	19: 55,181,094 (GRCm39)		probably null	Homo
Tma16	T	C	8: 66,934,118 (GRCm39)	E79G	probably damaging	Het
Trim14	G	T	4: 46,507,257 (GRCm39)	H320N	probably damaging	Het
Trim63	A	G	4: 134,053,008 (GRCm39)	D323G	probably damaging	Het
Vash2	C	A	1: 190,690,880 (GRCm39)	R309L	probably benign	Het
Vmn1r62	G	A	7: 5,679,083 (GRCm39)	V255M	possibly damaging	Het
Vmn2r53	T	A	7: 12,332,566 (GRCm39)		probably null	Het
Zfp382	G	A	7: 29,833,963 (GRCm39)	R538H	probably damaging	Het
Zfp592	T	A	7: 80,673,184 (GRCm39)	D49E	probably benign	Het
Zfp60	T	C	7: 27,448,201 (GRCm39)	C290R	probably damaging	Het
Zfp69	G	A	4: 120,806,714 (GRCm39)		probably benign	Het
Zfp790	G	T	7: 29,527,647 (GRCm39)	G111W	probably damaging	Het
Zfp948	T	C	17: 21,807,429 (GRCm39)	I207T	possibly damaging	Het

Other mutations in Cct2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02111:Cct2	APN	10	116,889,017 (GRCm39)	missense	probably damaging	0.99
IGL02150:Cct2	APN	10	116,898,004 (GRCm39)	missense	probably damaging	0.99
IGL02349:Cct2	APN	10	116,889,044 (GRCm39)	missense	probably benign	0.04
IGL03010:Cct2	APN	10	116,894,019 (GRCm39)	missense	probably damaging	1.00
IGL03155:Cct2	APN	10	116,896,576 (GRCm39)	missense	probably damaging	0.99
R0507:Cct2	UTSW	10	116,891,151 (GRCm39)	splice site	probably null
R0742:Cct2	UTSW	10	116,891,151 (GRCm39)	splice site	probably null
R1102:Cct2	UTSW	10	116,896,545 (GRCm39)	splice site	probably null
R1438:Cct2	UTSW	10	116,890,897 (GRCm39)	unclassified	probably benign
R2040:Cct2	UTSW	10	116,889,018 (GRCm39)	missense	probably benign	0.00
R2157:Cct2	UTSW	10	116,898,714 (GRCm39)	splice site	probably benign
R2227:Cct2	UTSW	10	116,888,922 (GRCm39)	missense	probably null	0.18
R3410:Cct2	UTSW	10	116,897,968 (GRCm39)	missense	probably benign	0.01
R3981:Cct2	UTSW	10	116,890,040 (GRCm39)	missense	probably damaging	1.00
R3983:Cct2	UTSW	10	116,890,040 (GRCm39)	missense	probably damaging	1.00
R4364:Cct2	UTSW	10	116,891,056 (GRCm39)	missense	probably damaging	1.00
R4401:Cct2	UTSW	10	116,893,714 (GRCm39)	missense	possibly damaging	0.61
R6162:Cct2	UTSW	10	116,894,091 (GRCm39)	missense	probably damaging	0.99
R6300:Cct2	UTSW	10	116,892,064 (GRCm39)	missense	probably damaging	0.96
R7075:Cct2	UTSW	10	116,897,370 (GRCm39)	missense	unknown
R7198:Cct2	UTSW	10	116,889,029 (GRCm39)	missense	probably benign
R7236:Cct2	UTSW	10	116,897,464 (GRCm39)	missense	probably benign	0.00
R8373:Cct2	UTSW	10	116,896,729 (GRCm39)	missense	possibly damaging	0.95
R8803:Cct2	UTSW	10	116,894,090 (GRCm39)	missense	probably benign	0.00
R8859:Cct2	UTSW	10	116,896,739 (GRCm39)	missense	possibly damaging	0.63
R9182:Cct2	UTSW	10	116,892,025 (GRCm39)	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