Mutagenetix > Incidental Mutation

Incidental Mutation 'R6300:Cct2'

509046

Institutional Source

Beutler Lab

Gene Symbol

Cct2

Ensembl Gene

ENSMUSG00000034024

Gene Name

chaperonin containing TCP1 subunit 2

Synonyms

Cctb

MMRRC Submission

044409-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R6300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116886906-116899719 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116892064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 328 (G328D)

Ref Sequence

ENSEMBL: ENSMUSP00000036288 (fasta)

Gene Model

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

AlphaFold

P80314

Predicted Effect

probably damaging
Transcript: ENSMUST00000047672
AA Change: G328D

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036288
Gene: ENSMUSG00000034024
AA Change: G328D

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

Meta Mutation Damage Score

0.9110

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (72/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	G	7: 40,642,885 (GRCm39)	T185A	possibly damaging	Het
4932414N04Rik	A	G	2: 68,561,453 (GRCm39)	Y260C	possibly damaging	Het
Adamtsl1	G	A	4: 86,166,254 (GRCm39)	G395S	probably damaging	Het
Amn	T	C	12: 111,240,623 (GRCm39)	L85P	probably benign	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Ap1s3	T	C	1: 79,602,840 (GRCm39)	K56E	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Apip	C	T	2: 102,917,498 (GRCm39)	R66C	possibly damaging	Het
Apob	C	T	12: 8,057,769 (GRCm39)	R2084*	probably null	Het
Apol6	A	T	15: 76,935,471 (GRCm39)	I247L	probably benign	Het
Arfgap2	A	G	2: 91,097,540 (GRCm39)	Q112R	probably benign	Het
Armh1	A	G	4: 117,088,979 (GRCm39)	Y139H	probably damaging	Het
Bag6	T	C	17: 35,357,577 (GRCm39)	V122A	probably damaging	Het
Bmal2	A	G	6: 146,723,444 (GRCm39)	Y258C	probably damaging	Het
Cacna1e	T	A	1: 154,301,678 (GRCm39)	T1685S	probably benign	Het
Cd163	T	A	6: 124,294,950 (GRCm39)	C671*	probably null	Het
Cers5	G	T	15: 99,670,100 (GRCm39)	A54E	probably damaging	Het
Ctdp1	T	A	18: 80,502,455 (GRCm39)	M152L	probably benign	Het
Cul3	A	G	1: 80,264,669 (GRCm39)	V211A	probably damaging	Het
Defb36	T	A	2: 152,454,418 (GRCm39)	W26R	probably damaging	Het
Dnah17	T	C	11: 117,925,136 (GRCm39)	E3899G	probably damaging	Het
Dnah6	A	T	6: 73,042,798 (GRCm39)	I3208N	probably damaging	Het
Dnah7b	T	C	1: 46,365,046 (GRCm39)	F3609S	probably damaging	Het
Duox1	T	G	2: 122,168,181 (GRCm39)	L1102R	probably damaging	Het
Dzip3	A	G	16: 48,772,170 (GRCm39)	S500P	probably damaging	Het
Endod1	T	C	9: 14,268,166 (GRCm39)	T440A	probably benign	Het
Exph5	A	G	9: 53,285,246 (GRCm39)	T776A	possibly damaging	Het
Gabrg2	T	C	11: 41,891,350 (GRCm39)		probably null	Het
Hoxd3	A	G	2: 74,574,420 (GRCm39)	Y22C	probably damaging	Het
Hspe1	T	A	1: 55,129,860 (GRCm39)		probably null	Het
Il6ra	A	G	3: 89,794,436 (GRCm39)	V175A	probably damaging	Het
Kat6a	A	G	8: 23,429,628 (GRCm39)	Q1661R	unknown	Het
Klhl18	T	A	9: 110,265,130 (GRCm39)	N362I	probably benign	Het
Marchf10	T	C	11: 105,273,063 (GRCm39)	E692G	probably damaging	Het
Mars1	G	A	10: 127,132,429 (GRCm39)	T856M	probably benign	Het
Mef2b	C	T	8: 70,619,769 (GRCm39)	T285I	possibly damaging	Het
Mmrn2	T	C	14: 34,119,614 (GRCm39)	S198P	probably benign	Het
Nek5	T	A	8: 22,597,737 (GRCm39)	M281L	probably benign	Het
Or2y15	T	A	11: 49,351,039 (GRCm39)	C178S	probably damaging	Het
Or52e19	A	T	7: 102,959,636 (GRCm39)	H236L	probably benign	Het
Or52e7	G	A	7: 104,684,878 (GRCm39)	V158M	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pcdhgb5	T	A	18: 37,865,752 (GRCm39)	F516I	probably damaging	Het
Pds5b	T	A	5: 150,646,713 (GRCm39)	N167K	possibly damaging	Het
Pepd	G	A	7: 34,668,968 (GRCm39)	R196H	probably damaging	Het
Pla2g4e	A	T	2: 120,013,219 (GRCm39)	M367K	probably benign	Het
Prdm4	A	G	10: 85,746,085 (GRCm39)		probably null	Het
Reln	A	G	5: 22,101,839 (GRCm39)	Y3364H	probably damaging	Het
Rufy4	T	A	1: 74,172,383 (GRCm39)	S369T	probably benign	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Safb2	T	C	17: 56,870,226 (GRCm39)	H950R	possibly damaging	Het
Serpina3k	A	T	12: 104,306,981 (GRCm39)	N71I	probably damaging	Het
Sez6	T	C	11: 77,867,367 (GRCm39)	V788A	possibly damaging	Het
Sfrp4	G	A	13: 19,808,023 (GRCm39)	A141T	probably damaging	Het
Skor1	A	T	9: 63,052,596 (GRCm39)	W458R	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,084,344 (GRCm39)	T78M	probably damaging	Het
Slc8a3	T	A	12: 81,361,752 (GRCm39)	I356F	probably damaging	Het
Smc4	T	C	3: 68,935,224 (GRCm39)	V771A	probably benign	Het
Snapc4	A	G	2: 26,268,563 (GRCm39)	S33P	probably benign	Het
Tcte1	T	C	17: 45,844,215 (GRCm39)	S64P	possibly damaging	Het
Thsd7a	G	T	6: 12,471,103 (GRCm39)	S505*	probably null	Het
Tjp3	T	A	10: 81,116,951 (GRCm39)	R193*	probably null	Het
Tm7sf2	A	T	19: 6,117,230 (GRCm39)	W58R	probably damaging	Het
Top3a	T	C	11: 60,640,234 (GRCm39)	D488G	probably benign	Het
Ttc21a	T	C	9: 119,790,905 (GRCm39)	S884P	possibly damaging	Het
Usp17lb	A	G	7: 104,489,898 (GRCm39)	L342P	probably damaging	Het
Utrn	T	A	10: 12,377,220 (GRCm39)	Y2612F	probably benign	Het
Vwa3a	A	G	7: 120,381,623 (GRCm39)	N3S	probably damaging	Het
Zfp382	G	A	7: 29,831,054 (GRCm39)		probably null	Het
Zfp672	A	T	11: 58,208,094 (GRCm39)	C76S	probably 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
R6312:Cct2	UTSW	10	116,891,960 (GRCm39)	missense	probably benign	0.00
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'- TTTCCCACTTCCAGAGGTCG -3'
(R):5'- TGAATGCTTAGCTCCTTATGCC -3'

Sequencing Primer
(F):5'- ACTTCCAGAGGTCGGCAAG -3'
(R):5'- GTCAGTGACCTTTAATGACGACATCG -3'

Posted On

2018-04-02