Mutagenetix > Incidental Mutation

Incidental Mutation 'R2227:Cct2'

239798

Institutional Source

Beutler Lab

Gene Symbol

Cct2

Ensembl Gene

ENSMUSG00000034024

Gene Name

chaperonin containing TCP1 subunit 2

Synonyms

Cctb

MMRRC Submission

040228-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R2227 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116886906-116899719 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116888922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 526 (R526G)

Ref Sequence

ENSEMBL: ENSMUSP00000036288 (fasta)

Gene Model

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

AlphaFold

P80314

Predicted Effect

probably null
Transcript: ENSMUST00000047672
AA Change: R526G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000036288
Gene: ENSMUSG00000034024
AA Change: R526G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218502

Predicted Effect

probably null
Transcript: ENSMUST00000219690
AA Change: S89G

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563I02Rik	T	A	14: 60,325,668 (GRCm39)		probably benign	Het
Abtb1	A	C	6: 88,813,349 (GRCm39)	L439R	probably damaging	Het
Adcy10	A	G	1: 165,345,829 (GRCm39)	T293A	probably damaging	Het
Agl	A	T	3: 116,581,961 (GRCm39)	V306D	possibly damaging	Het
Alpk2	T	A	18: 65,511,147 (GRCm39)	T17S	probably damaging	Het
Ar	T	A	X: 97,194,937 (GRCm39)	M517K	probably benign	Het
Atg9b	A	G	5: 24,591,393 (GRCm39)	V735A	possibly damaging	Het
BB014433	C	A	8: 15,091,717 (GRCm39)	A379S	probably benign	Het
Ccdc33	A	G	9: 57,989,305 (GRCm39)	S123P	probably damaging	Het
Ccl2	G	T	11: 81,927,427 (GRCm39)		probably null	Het
Cep55	T	C	19: 38,051,082 (GRCm39)	M164T	probably benign	Het
Clec2d	G	A	6: 129,161,214 (GRCm39)	A104T	probably benign	Het
Cyp3a11	A	G	5: 145,805,357 (GRCm39)	L220P	possibly damaging	Het
Dgkk	T	A	X: 6,741,487 (GRCm39)	D102E	probably damaging	Het
Emcn	T	C	3: 137,109,778 (GRCm39)	I140T	possibly damaging	Het
Exoc2	T	A	13: 31,048,867 (GRCm39)	I729L	probably benign	Het
Fbxl20	T	C	11: 97,981,675 (GRCm39)	I338V	probably benign	Het
Gucy2c	G	A	6: 136,679,758 (GRCm39)	T943I	probably damaging	Het
Hdac9	C	T	12: 34,457,801 (GRCm39)	V251I	probably benign	Het
Hoxa10	T	C	6: 52,209,616 (GRCm39)	E52G	probably damaging	Het
Il17rb	A	T	14: 29,728,038 (GRCm39)	S56R	probably benign	Het
Knl1	A	G	2: 118,902,481 (GRCm39)	D1394G	probably damaging	Het
Kpna1	G	A	16: 35,851,591 (GRCm39)	A392T	probably damaging	Het
Krt6b	A	G	15: 101,587,557 (GRCm39)	V179A	probably damaging	Het
Lpar5	A	T	6: 125,058,098 (GRCm39)		probably null	Het
Marchf7	A	G	2: 60,060,190 (GRCm39)	R106G	probably benign	Het
Mtus1	C	T	8: 41,535,812 (GRCm39)	V635M	probably damaging	Het
Myl1	T	C	1: 66,983,974 (GRCm39)	K31E	possibly damaging	Het
Myt1l	T	A	12: 29,876,969 (GRCm39)	L207I	unknown	Het
Naalad2	A	T	9: 18,287,829 (GRCm39)	V267E	possibly damaging	Het
Pkhd1l1	T	C	15: 44,376,188 (GRCm39)	I950T	possibly damaging	Het
Ppp1r9a	G	T	6: 5,154,074 (GRCm39)	R1081L	probably benign	Het
Rc3h1	T	C	1: 160,791,112 (GRCm39)	I932T	probably benign	Het
Rubcnl	G	A	14: 75,279,832 (GRCm39)	R405Q	probably benign	Het
Saxo5	A	G	8: 3,529,249 (GRCm39)	T245A	probably benign	Het
Sgsm3	A	G	15: 80,888,069 (GRCm39)	E53G	probably damaging	Het
Slco1a8	T	G	6: 141,938,087 (GRCm39)	E277D	possibly damaging	Het
Spin2g	A	T	X: 33,656,599 (GRCm39)	I171N	possibly damaging	Het
Srsf6	G	A	2: 162,773,619 (GRCm39)	S10N	probably damaging	Het
Tesl2	T	A	X: 23,825,173 (GRCm39)	M1L	probably null	Het
Thoc2l	T	A	5: 104,667,286 (GRCm39)	Y603N	probably damaging	Het
Tnn	A	T	1: 159,975,035 (GRCm39)	C131S	probably damaging	Het
Tnnt2	A	G	1: 135,771,529 (GRCm39)		probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Vmn1r86	T	C	7: 12,836,847 (GRCm39)	I10V	probably benign	Het
Xpot	T	C	10: 121,458,765 (GRCm39)	R20G	probably damaging	Het
Zfp735	T	A	11: 73,602,222 (GRCm39)	L389I	possibly damaging	Het
Zfp735	T	G	11: 73,602,223 (GRCm39)	L389*	probably null	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
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
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'- GGCTACCCAAACCAGTTTCC -3'
(R):5'- TCTAGCTAAATCAGGCAGTGAGATG -3'

Sequencing Primer
(F):5'- CTCCTATGCCTTTCTAAGAACTACG -3'
(R):5'- CAGTGAGATGCAGTAACAGCTTTAG -3'

Posted On

2014-10-15