Mutagenetix > Incidental Mutation

Incidental Mutation 'R3981:Cct2'

351183

Institutional Source

Beutler Lab

Gene Symbol

Cct2

Ensembl Gene

ENSMUSG00000034024

Gene Name

chaperonin containing TCP1 subunit 2

Synonyms

Cctb

MMRRC Submission

040943-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R3981 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116886906-116899719 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116890040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 10 (P10L)

Gene Model

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

AlphaFold

P80314

Predicted Effect

probably damaging
Transcript: ENSMUST00000047672
AA Change: P447L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036288
Gene: ENSMUSG00000034024
AA Change: P447L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218502

Predicted Effect

probably damaging
Transcript: ENSMUST00000219690
AA Change: P10L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.9615

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (58/59)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,482,407 (GRCm39)	C4313G	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Bhlhe22	G	T	3: 18,109,058 (GRCm39)	R36L	probably damaging	Het
Cacnb2	A	G	2: 14,609,314 (GRCm39)	E18G	probably benign	Het
Cep295	G	T	9: 15,228,363 (GRCm39)		probably benign	Het
Cep89	A	G	7: 35,137,808 (GRCm39)	R731G	probably damaging	Het
Chrnb3	C	T	8: 27,884,034 (GRCm39)	T257M	probably damaging	Het
Clca3a1	T	A	3: 144,461,070 (GRCm39)	T194S	probably benign	Het
Clca4b	T	C	3: 144,631,797 (GRCm39)	K236R	probably benign	Het
Col18a1	C	A	10: 76,924,721 (GRCm39)	D23Y	probably damaging	Het
Cry1	A	T	10: 84,982,456 (GRCm39)	Y297N	probably damaging	Het
Defb38	A	G	8: 19,076,483 (GRCm39)		probably null	Het
Dlgap1	A	G	17: 70,823,780 (GRCm39)	K255R	probably damaging	Het
Erich6	T	C	3: 58,544,125 (GRCm39)	E154G	probably benign	Het
Esf1	G	A	2: 140,000,476 (GRCm39)	P437S	probably benign	Het
Fkbp7	A	C	2: 76,493,601 (GRCm39)	N197K	probably damaging	Het
Fsip2	T	A	2: 82,789,006 (GRCm39)	D342E	probably benign	Het
Gbx1	T	C	5: 24,731,213 (GRCm39)	D201G	probably benign	Het
Gm15056	T	A	8: 21,390,957 (GRCm39)	K25N	possibly damaging	Het
Grb7	T	G	11: 98,345,391 (GRCm39)		probably benign	Het
H2-M3	C	T	17: 37,582,021 (GRCm39)	A159V	probably damaging	Het
Hcar1	T	C	5: 124,016,683 (GRCm39)	N336S	probably benign	Het
Ift122	T	C	6: 115,890,882 (GRCm39)	V807A	probably benign	Het
Maml2	T	C	9: 13,532,364 (GRCm39)	V526A	possibly damaging	Het
Map3k20	C	T	2: 72,268,571 (GRCm39)	T526I	probably damaging	Het
Mfap2	A	G	4: 140,741,554 (GRCm39)	Q71R	possibly damaging	Het
Mmd2	T	C	5: 142,550,554 (GRCm39)	Y228C	probably damaging	Het
Mme	T	A	3: 63,235,485 (GRCm39)	Y178N	probably damaging	Het
Mras	T	C	9: 99,293,469 (GRCm39)	D57G	probably damaging	Het
Muc5ac	T	C	7: 141,367,512 (GRCm39)	C2274R	possibly damaging	Het
Or8j3c	T	A	2: 86,253,186 (GRCm39)	Y278F	probably damaging	Het
Palmd	T	C	3: 116,717,472 (GRCm39)	T342A	probably benign	Het
Prb1b	G	A	6: 132,289,657 (GRCm39)	P56S	unknown	Het
Rdh19	A	G	10: 127,686,017 (GRCm39)	N43S	probably benign	Het
Ros1	G	A	10: 51,996,974 (GRCm39)	H1233Y	possibly damaging	Het
Samd8	A	G	14: 21,830,248 (GRCm39)	R225G	probably null	Het
Slc7a11	C	A	3: 50,382,223 (GRCm39)	V175L	probably benign	Het
Spata31d1c	A	G	13: 65,182,925 (GRCm39)	T156A	possibly damaging	Het
Spata31g1	C	T	4: 42,971,534 (GRCm39)	T289I	probably damaging	Het
Spmip9	T	C	6: 70,890,283 (GRCm39)	N170D	possibly damaging	Het
Stxbp5	T	C	10: 9,665,060 (GRCm39)		probably benign	Het
Tec	T	A	5: 72,980,942 (GRCm39)		probably benign	Het
Vps16	T	C	2: 130,284,514 (GRCm39)	W728R	possibly damaging	Het
Xirp1	T	C	9: 119,846,810 (GRCm39)	E691G	probably damaging	Het
Zfp605	T	C	5: 110,275,604 (GRCm39)	S241P	probably damaging	Het
Zfp839	G	A	12: 110,832,765 (GRCm39)	G561D	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
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'- TATGTGCGTGTCCATACAGAC -3'
(R):5'- GTCCTTGGTGGTTATTCATCAC -3'

Sequencing Primer
(F):5'- TGTCCATACAGACATACAAAGTGG -3'
(R):5'- AATAGAGTTTATTCTGGGCATAGGG -3'

Posted On

2015-10-08