Incidental Mutation 'R8373:Cct2'
ID 646548
Institutional Source Beutler Lab
Gene Symbol Cct2
Ensembl Gene ENSMUSG00000034024
Gene Name chaperonin containing TCP1 subunit 2
Synonyms Cctb
MMRRC Submission 067741-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R8373 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 116886906-116899719 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116896729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 158 (D158G)
Ref Sequence ENSEMBL: ENSMUSP00000036288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047672] [ENSMUST00000218059] [ENSMUST00000218719] [ENSMUST00000219036] [ENSMUST00000219573]
AlphaFold P80314
Predicted Effect possibly damaging
Transcript: ENSMUST00000047672
AA Change: D158G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000036288
Gene: ENSMUSG00000034024
AA Change: D158G

Pfam:Cpn60_TCP1 35 525 3.2e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218059
Predicted Effect probably benign
Transcript: ENSMUST00000218719
Predicted Effect possibly damaging
Transcript: ENSMUST00000219036
AA Change: D158G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000219573
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T C 10: 14,343,078 (GRCm39) T290A probably benign Het
Aff4 C T 11: 53,291,094 (GRCm39) Q685* probably null Het
Ankmy1 A G 1: 92,823,816 (GRCm39) M150T probably damaging Het
Armc1 T C 3: 19,203,731 (GRCm39) Y65C probably damaging Het
Armc8 A G 9: 99,409,152 (GRCm39) V222A probably benign Het
Bcar1 A T 8: 112,442,370 (GRCm39) Y228* probably null Het
Cul1 T A 6: 47,491,997 (GRCm39) C426S possibly damaging Het
Deup1 G T 9: 15,503,671 (GRCm39) L297M possibly damaging Het
Dpp10 A G 1: 123,781,958 (GRCm39) S74P possibly damaging Het
Epha4 A G 1: 77,483,716 (GRCm39) Y98H possibly damaging Het
Epn3 T G 11: 94,383,762 (GRCm39) D296A probably damaging Het
Eri2 A C 7: 119,371,820 (GRCm39) I252S probably benign Het
Gp9 C T 6: 87,755,994 (GRCm39) T3I probably benign Het
H2-Q5 T A 17: 35,613,432 (GRCm39) V55E Het
Kif3c G T 12: 3,416,089 (GRCm39) V37L probably benign Het
Lct A T 1: 128,231,577 (GRCm39) N757K probably damaging Het
Lhx8 A C 3: 154,030,295 (GRCm39) N112K probably damaging Het
Loxl3 T A 6: 83,025,872 (GRCm39) S373R possibly damaging Het
Mettl4 G A 17: 95,041,077 (GRCm39) T359I probably damaging Het
Mpp7 A G 18: 7,444,096 (GRCm39) S109P probably damaging Het
Nckap5 A G 1: 125,954,032 (GRCm39) V840A probably benign Het
Ncoa4 T A 14: 31,898,893 (GRCm39) L571Q probably damaging Het
Or13a18 A T 7: 140,190,208 (GRCm39) Y35F possibly damaging Het
Or2f1 T C 6: 42,721,280 (GRCm39) F103S probably damaging Het
Phgdh G A 3: 98,228,561 (GRCm39) T204I probably damaging Het
Pla2g4d C T 2: 120,107,980 (GRCm39) V310M probably null Het
Prss3b T G 6: 41,008,622 (GRCm39) T231P possibly damaging Het
Psmd12 C T 11: 107,388,450 (GRCm39) P421L probably damaging Het
Ptch1 A G 13: 63,688,982 (GRCm39) Y432H probably damaging Het
Rapgef1 G A 2: 29,600,243 (GRCm39) G655S probably damaging Het
Rilpl2 C A 5: 124,616,097 (GRCm39) A18S probably damaging Het
Srsf7 T C 17: 80,512,815 (GRCm39) R88G probably benign Het
St6galnac1 T C 11: 116,660,059 (GRCm39) K85E possibly damaging Het
Trip12 A T 1: 84,773,488 (GRCm39) S49R probably damaging Het
Vinac1 T A 2: 128,880,091 (GRCm39) I612F Het
Wdr48 A G 9: 119,734,560 (GRCm39) T160A probably damaging Het
Zfp704 G A 3: 9,674,502 (GRCm39) T93M unknown 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
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
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
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

Sequencing Primer
Posted On 2020-09-02