Incidental Mutation 'R1102:Cct2'
ID 98192
Institutional Source Beutler Lab
Gene Symbol Cct2
Ensembl Gene ENSMUSG00000034024
Gene Name chaperonin containing TCP1 subunit 2
Synonyms Cctb
MMRRC Submission 039175-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R1102 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 116886906-116899719 bp(-) (GRCm39)
Type of Mutation splice site (169 bp from exon)
DNA Base Change (assembly) A to T at 116896545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047672] [ENSMUST00000218059] [ENSMUST00000218719] [ENSMUST00000219036] [ENSMUST00000219036] [ENSMUST00000219573]
AlphaFold P80314
Predicted Effect probably benign
Transcript: ENSMUST00000047672
SMART Domains Protein: ENSMUSP00000036288
Gene: ENSMUSG00000034024

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 35 525 3.2e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218502
Predicted Effect probably null
Transcript: ENSMUST00000218719
Predicted Effect probably null
Transcript: ENSMUST00000219036
Predicted Effect probably null
Transcript: ENSMUST00000219036
Predicted Effect probably null
Transcript: ENSMUST00000219573
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 88.8%
Validation Efficiency 98% (60/61)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik C T 17: 9,211,460 (GRCm39) T203M probably damaging Het
Acy3 C T 19: 4,037,850 (GRCm39) T119I probably damaging Het
Ccdc6 C A 10: 70,023,636 (GRCm39) H400Q possibly damaging Het
Ccna1 T C 3: 54,958,281 (GRCm39) D134G probably damaging Het
Cd36 A G 5: 18,019,211 (GRCm39) F170S possibly damaging Het
Cep350 G A 1: 155,807,264 (GRCm39) P718S probably damaging Het
Cimip1 T A 2: 173,364,516 (GRCm39) D20E probably damaging Het
Ctnna3 A T 10: 64,421,774 (GRCm39) I523L probably benign Het
Dnah1 G T 14: 31,018,414 (GRCm39) Y1405* probably null Het
Dnah8 T A 17: 31,073,738 (GRCm39) probably null Het
Drd3 T C 16: 43,582,846 (GRCm39) L113S probably damaging Het
Emsy T C 7: 98,251,796 (GRCm39) T735A probably damaging Het
Epha5 A G 5: 84,381,434 (GRCm39) probably benign Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fbxo10 A G 4: 45,043,672 (GRCm39) L717P probably damaging Het
Galnt10 T C 11: 57,671,871 (GRCm39) probably benign Het
Gle1 T G 2: 29,834,066 (GRCm39) I437M possibly damaging Het
Gpr137b T C 13: 13,539,616 (GRCm39) probably benign Het
Gsta1 T C 9: 78,149,777 (GRCm39) F197L probably damaging Het
Icam1 G A 9: 20,939,132 (GRCm39) V502M possibly damaging Het
Ido1 T A 8: 25,083,156 (GRCm39) I90F probably damaging Het
Il4ra G A 7: 125,173,889 (GRCm39) probably null Het
Med12l T A 3: 59,152,257 (GRCm39) M1014K probably damaging Het
Mmp13 A G 9: 7,272,952 (GRCm39) E104G possibly damaging Het
Mms19 T C 19: 41,939,284 (GRCm39) E495G possibly damaging Het
Mrc2 A G 11: 105,231,647 (GRCm39) I820V probably benign Het
Naip6 T C 13: 100,440,923 (GRCm39) K286E possibly damaging Het
Ndrg1 T C 15: 66,816,685 (GRCm39) Y110C probably damaging Het
Or1e1c G A 11: 73,265,700 (GRCm39) V45I probably benign Het
Or4a78 A T 2: 89,497,814 (GRCm39) C139S probably damaging Het
Or5b118 T C 19: 13,448,771 (GRCm39) C146R probably damaging Het
Or5b3 G A 19: 13,388,454 (GRCm39) V174M probably damaging Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pdzd4 G A X: 72,839,052 (GRCm39) R419C probably damaging Het
Pnpla7 G T 2: 24,886,177 (GRCm39) M3I probably damaging Het
Popdc3 A G 10: 45,192,642 (GRCm39) probably benign Het
Ppp5c A G 7: 16,756,368 (GRCm39) F112S probably benign Het
Rbp3 A G 14: 33,678,313 (GRCm39) T754A possibly damaging Het
Reep6 A G 10: 80,171,080 (GRCm39) T319A probably benign Het
Rfx3 A G 19: 27,845,000 (GRCm39) V43A possibly damaging Het
Rint1 A G 5: 24,010,565 (GRCm39) probably benign Het
Sacm1l T G 9: 123,411,363 (GRCm39) V384G probably damaging Het
Shox2 A T 3: 66,885,628 (GRCm39) L149Q probably damaging Het
Sipa1 T C 19: 5,702,782 (GRCm39) H805R probably benign Het
Skic2 T C 17: 35,059,082 (GRCm39) D1095G probably benign Het
Slc5a3 G T 16: 91,874,765 (GRCm39) W274L probably damaging Het
Spata31e4 A G 13: 50,857,118 (GRCm39) T919A probably benign Het
Sptbn1 G T 11: 30,070,785 (GRCm39) H1524Q possibly damaging Het
Ssr1 G T 13: 38,171,591 (GRCm39) Q149K probably benign Het
Taf7l2 T C 10: 115,949,299 (GRCm39) S76G probably damaging Het
Thsd7a T C 6: 12,555,701 (GRCm39) D61G possibly damaging Het
Tmem245 T C 4: 56,903,200 (GRCm39) probably benign Het
Tmem74 T C 15: 43,730,186 (GRCm39) T286A probably benign Het
Tnc T C 4: 63,938,705 (GRCm39) N45D probably benign Het
Trdmt1 T G 2: 13,528,225 (GRCm39) probably benign Het
Uty A T Y: 1,174,741 (GRCm39) Y220N probably damaging Het
Vdr T C 15: 97,757,002 (GRCm39) Y290C probably damaging Het
Vmn2r19 T A 6: 123,313,132 (GRCm39) M734K probably benign Het
Vmn2r53 T C 7: 12,332,410 (GRCm39) D413G possibly damaging Het
Vps45 A G 3: 95,950,253 (GRCm39) probably benign Het
Other mutations in Cct2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GGCCTGAAGAGATTCTACTTGCTGC -3'
(R):5'- GGAACGACATTGTCCTCAAAGCTCC -3'

Sequencing Primer
(F):5'- gcttcacagccatcttgactac -3'
(R):5'- ACATTGTCCTCAAAGCTCCTTACTC -3'
Posted On 2014-01-05