Mutagenetix > Incidental Mutation

Incidental Mutation 'R2040:Cct2'

225550

Institutional Source

Beutler Lab

Gene Symbol

Cct2

Ensembl Gene

ENSMUSG00000034024

Gene Name

chaperonin containing TCP1 subunit 2

Synonyms

Cctb

MMRRC Submission

040047-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R2040 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116886906-116899719 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116889018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 494 (T494A)

Ref Sequence

ENSEMBL: ENSMUSP00000036288 (fasta)

Gene Model

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

AlphaFold

P80314

Predicted Effect

probably benign
Transcript: ENSMUST00000047672
AA Change: T494A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000036288
Gene: ENSMUSG00000034024
AA Change: T494A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218502

Predicted Effect

unknown
Transcript: ENSMUST00000219690
AA Change: T57A

Meta Mutation Damage Score

0.1698

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

99% (67/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	T	5: 107,693,607 (GRCm39)	I75L	probably benign	Het
Abca2	T	C	2: 25,333,817 (GRCm39)	L1755P	probably damaging	Het
Adam6b	A	T	12: 113,454,364 (GRCm39)	I394L	probably benign	Het
Ano2	T	A	6: 126,016,471 (GRCm39)	N1001K	probably benign	Het
Arap2	A	T	5: 62,906,259 (GRCm39)	N253K	probably damaging	Het
Ascc3	T	C	10: 50,604,227 (GRCm39)	C1316R	probably benign	Het
Atox1	T	C	11: 55,341,343 (GRCm39)	Y64C	probably benign	Het
Atp13a1	A	G	8: 70,259,702 (GRCm39)	T1098A	possibly damaging	Het
Casr	T	C	16: 36,330,728 (GRCm39)	E202G	possibly damaging	Het
Cd209e	T	A	8: 3,899,158 (GRCm39)	N185Y	probably damaging	Het
Celsr1	A	G	15: 85,917,088 (GRCm39)	L295P	probably damaging	Het
Cyp26a1	A	G	19: 37,686,499 (GRCm39)	T48A	possibly damaging	Het
Elovl3	A	G	19: 46,121,567 (GRCm39)	S37G	probably benign	Het
Fbh1	T	G	2: 11,774,706 (GRCm39)	D13A	possibly damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Frem3	G	T	8: 81,342,455 (GRCm39)	V1583L	possibly damaging	Het
Gm21863	C	A	12: 20,004,515 (GRCm39)	Q4K	possibly damaging	Het
Gm266	T	C	12: 111,452,132 (GRCm39)	T25A	possibly damaging	Het
Gm8674	T	C	13: 50,055,705 (GRCm39)		noncoding transcript	Het
Greb1	T	C	12: 16,752,651 (GRCm39)	H897R	probably damaging	Het
Hells	A	G	19: 38,943,474 (GRCm39)	D565G	probably damaging	Het
Hfm1	C	T	5: 107,049,684 (GRCm39)	V426I	probably damaging	Het
Ints6	G	A	14: 62,951,138 (GRCm39)	T297I	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kmt2b	A	T	7: 30,268,845 (GRCm39)	M2628K	probably damaging	Het
Ktn1	T	G	14: 47,938,069 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,815,807 (GRCm39)	D1230E	probably benign	Het
Mboat1	T	C	13: 30,425,300 (GRCm39)		probably null	Het
Moxd2	T	C	6: 40,861,887 (GRCm39)		probably null	Het
Mtmr4	T	C	11: 87,495,916 (GRCm39)	M527T	probably damaging	Het
Myt1	T	A	2: 181,467,717 (GRCm39)	N1050K	probably damaging	Het
Ncoa6	A	T	2: 155,248,000 (GRCm39)	V1768E	probably damaging	Het
Nelfcd	G	A	2: 174,261,875 (GRCm39)	C48Y	probably damaging	Het
Opn3	G	A	1: 175,491,145 (GRCm39)	A296V	possibly damaging	Het
Or13a22	T	C	7: 140,073,295 (GRCm39)	I248T	probably benign	Het
Or2z8	T	A	8: 72,811,607 (GRCm39)	F28I	possibly damaging	Het
Pam	T	C	1: 97,792,167 (GRCm39)	E418G	possibly damaging	Het
Prrc2c	A	T	1: 162,525,126 (GRCm39)	N493K	probably damaging	Het
Ptpn18	A	G	1: 34,509,300 (GRCm39)	Q165R	probably damaging	Het
Ptpro	C	A	6: 137,363,162 (GRCm39)		probably benign	Het
Ralgapa1	A	G	12: 55,833,107 (GRCm39)	F132S	probably damaging	Het
Robo1	T	C	16: 72,730,630 (GRCm39)	C244R	probably damaging	Het
Robo3	A	C	9: 37,338,760 (GRCm39)	V316G	probably damaging	Het
Rsl1	T	C	13: 67,330,145 (GRCm39)	S198P	probably damaging	Het
Rsph9	T	C	17: 46,445,910 (GRCm39)	D220G	probably damaging	Het
Rxfp2	A	C	5: 149,993,677 (GRCm39)	I580L	probably benign	Het
Septin7	G	A	9: 25,199,532 (GRCm39)	A144T	possibly damaging	Het
Sfn	T	C	4: 133,328,603 (GRCm39)	K160E	probably benign	Het
Ski	A	G	4: 155,306,029 (GRCm39)	Y317H	probably damaging	Het
Skic3	A	C	13: 76,328,222 (GRCm39)	R1423S	probably damaging	Het
Slc22a22	A	T	15: 57,110,936 (GRCm39)	Y430*	probably null	Het
Src	A	G	2: 157,299,030 (GRCm39)	K9R	probably benign	Het
Srm	C	T	4: 148,678,453 (GRCm39)	P255L	possibly damaging	Het
Stpg4	T	A	17: 87,730,075 (GRCm39)	N90I	probably damaging	Het
Sytl2	T	A	7: 90,031,069 (GRCm39)		probably benign	Het
Tbpl2	T	C	2: 23,984,871 (GRCm39)	K92R	probably benign	Het
Tlcd4	G	T	3: 121,024,975 (GRCm39)		probably benign	Het
Tmem38a	T	A	8: 73,335,096 (GRCm39)	N178K	probably damaging	Het
Tnfaip3	T	C	10: 18,883,900 (GRCm39)	D160G	possibly damaging	Het
Vegfb	T	A	19: 6,963,407 (GRCm39)	H119L	possibly damaging	Het
Vmn2r111	T	A	17: 22,767,395 (GRCm39)	I701F	probably damaging	Het
Vmn2r95	C	T	17: 18,661,561 (GRCm39)	L436F	probably damaging	Het
Wdr47	T	C	3: 108,530,688 (GRCm39)	C394R	probably benign	Het
Ythdc2	T	A	18: 44,988,241 (GRCm39)	Y16*	probably null	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp353-ps	A	G	8: 42,535,333 (GRCm39)		noncoding transcript	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
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
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'- ACGGAACTGTCCCATTATACAC -3'
(R):5'- TAAAAGCACTTGTGTGGGCTC -3'

Sequencing Primer
(F):5'- TATACACAATTATCAAGCTCCCTGG -3'
(R):5'- GTAAACTAGGCTGGCCTTGAACTC -3'

Posted On

2014-08-25