Incidental Mutation 'R4482:Cct5'
ID 331474
Institutional Source Beutler Lab
Gene Symbol Cct5
Ensembl Gene ENSMUSG00000022234
Gene Name chaperonin containing TCP1 subunit 5
Synonyms TCPE, Ccte
MMRRC Submission 041738-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4482 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 31590946-31601950 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31597715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 58 (D58G)
Ref Sequence ENSEMBL: ENSMUSP00000022842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022842] [ENSMUST00000042702] [ENSMUST00000161061] [ENSMUST00000161266]
AlphaFold P80316
Predicted Effect probably damaging
Transcript: ENSMUST00000022842
AA Change: D58G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022842
Gene: ENSMUSG00000022234
AA Change: D58G

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 44 537 7.7e-160 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042702
SMART Domains Protein: ENSMUSP00000039094
Gene: ENSMUSG00000039065

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
SCOP:d1dusa_ 87 186 2e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160174
Predicted Effect probably benign
Transcript: ENSMUST00000161061
SMART Domains Protein: ENSMUSP00000124619
Gene: ENSMUSG00000039065

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161266
AA Change: D20G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125566
Gene: ENSMUSG00000022234
AA Change: D20G

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 6 199 5.4e-61 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
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. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik A G 11: 3,845,008 (GRCm39) V27A possibly damaging Het
Actn3 A T 19: 4,913,436 (GRCm39) probably null Het
Adamts20 T C 15: 94,243,801 (GRCm39) Y642C probably damaging Het
Ankrd11 T C 8: 123,620,228 (GRCm39) D1187G probably damaging Het
Bag4 T C 8: 26,275,072 (GRCm39) probably benign Het
Bsn C A 9: 107,991,863 (GRCm39) K1296N probably damaging Het
Cyp4a10 T C 4: 115,389,795 (GRCm39) F467L probably damaging Het
Dicer1 A G 12: 104,672,536 (GRCm39) Y904H probably damaging Het
Fbn1 A T 2: 125,205,530 (GRCm39) probably null Het
Fhip1b A T 7: 105,038,881 (GRCm39) F119L probably benign Het
Git1 T A 11: 77,391,333 (GRCm39) Y189N possibly damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Itga6 T A 2: 71,686,259 (GRCm39) I1059N probably damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kbtbd3 A T 9: 4,331,051 (GRCm39) Y475F probably damaging Het
Map3k6 T C 4: 132,970,710 (GRCm39) I199T probably benign Het
Mtmr7 T C 8: 41,007,425 (GRCm39) M503V probably benign Het
Muc4 A G 16: 32,577,075 (GRCm39) T2192A unknown Het
Nexn T C 3: 151,948,390 (GRCm39) E391G probably damaging Het
Or5h22 G T 16: 58,895,286 (GRCm39) H52Q probably benign Het
Parg A G 14: 31,984,731 (GRCm39) I254V probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pomt2 G A 12: 87,178,604 (GRCm39) P290S probably benign Het
Rasl10a T A 11: 5,008,429 (GRCm39) Y42N probably damaging Het
Slc4a8 C A 15: 100,708,480 (GRCm39) F871L probably damaging Het
Tdrd9 T C 12: 111,980,935 (GRCm39) probably null Het
Trim21 G A 7: 102,213,140 (GRCm39) Q53* probably null Het
Triobp T C 15: 78,850,763 (GRCm39) S306P possibly damaging Het
Vasn A T 16: 4,466,190 (GRCm39) T46S possibly damaging Het
Wmp T A X: 106,990,237 (GRCm39) L225F possibly damaging Het
Zfp236 A T 18: 82,662,346 (GRCm39) F529Y probably benign Het
Other mutations in Cct5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00847:Cct5 APN 15 31,591,073 (GRCm39) unclassified probably benign
IGL02656:Cct5 APN 15 31,597,576 (GRCm39) missense probably damaging 1.00
IGL03188:Cct5 APN 15 31,598,148 (GRCm39) missense probably benign 0.10
IGL03052:Cct5 UTSW 15 31,597,633 (GRCm39) missense probably damaging 1.00
R0279:Cct5 UTSW 15 31,591,177 (GRCm39) missense probably damaging 1.00
R1933:Cct5 UTSW 15 31,591,154 (GRCm39) missense probably benign 0.05
R2086:Cct5 UTSW 15 31,594,349 (GRCm39) missense probably damaging 1.00
R5331:Cct5 UTSW 15 31,594,448 (GRCm39) unclassified probably benign
R5618:Cct5 UTSW 15 31,598,161 (GRCm39) missense possibly damaging 0.52
R8828:Cct5 UTSW 15 31,594,658 (GRCm39) missense possibly damaging 0.81
R9145:Cct5 UTSW 15 31,591,107 (GRCm39) missense
R9433:Cct5 UTSW 15 31,592,883 (GRCm39) missense possibly damaging 0.52
R9644:Cct5 UTSW 15 31,601,845 (GRCm39) missense probably benign 0.42
X0023:Cct5 UTSW 15 31,601,805 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCCTTCATGATGCAAGGC -3'
(R):5'- ACGCTTAGATTGTTTCCCATGTG -3'

Sequencing Primer
(F):5'- GGCAGAAACATTAGAGCTCCTCTG -3'
(R):5'- CCCATGTGGAGTTGGGTTAGC -3'
Posted On 2015-07-21