Incidental Mutation 'R5618:Cct5'
ID 439664
Institutional Source Beutler Lab
Gene Symbol Cct5
Ensembl Gene ENSMUSG00000022234
Gene Name chaperonin containing TCP1 subunit 5
Synonyms TCPE, Ccte
MMRRC Submission 043277-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5618 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 31590946-31601950 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31598161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 13 (S13P)
Ref Sequence ENSEMBL: ENSMUSP00000125566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022842] [ENSMUST00000042702] [ENSMUST00000161061] [ENSMUST00000161266]
AlphaFold P80316
Predicted Effect probably benign
Transcript: ENSMUST00000022842
AA Change: S51P

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022842
Gene: ENSMUSG00000022234
AA Change: S51P

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 possibly damaging
Transcript: ENSMUST00000161266
AA Change: S13P

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125566
Gene: ENSMUSG00000022234
AA Change: S13P

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 6 199 5.4e-61 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik G A 5: 107,696,065 (GRCm39) W167* probably null Het
Acvr1 C T 2: 58,352,955 (GRCm39) R335Q probably damaging Het
Atg7 A G 6: 114,650,660 (GRCm39) D67G probably damaging Het
Avil T C 10: 126,846,446 (GRCm39) F417S possibly damaging Het
AW551984 A T 9: 39,502,000 (GRCm39) L702Q probably damaging Het
Bcl7a A T 5: 123,499,265 (GRCm39) N95Y probably damaging Het
Cblb A G 16: 51,973,031 (GRCm39) D454G possibly damaging Het
Cc2d2a A T 5: 43,887,249 (GRCm39) Q1226H probably benign Het
Clca3a1 C T 3: 144,710,738 (GRCm39) E822K probably benign Het
Csgalnact2 A T 6: 118,103,277 (GRCm39) D228E probably damaging Het
Defb12 A T 8: 19,164,814 (GRCm39) M8K possibly damaging Het
Dipk1b T C 2: 26,524,887 (GRCm39) S96P probably damaging Het
Dysf A G 6: 84,083,806 (GRCm39) D736G probably benign Het
Exog G T 9: 119,291,817 (GRCm39) D365Y probably damaging Het
Fam222b T G 11: 78,045,066 (GRCm39) V81G probably benign Het
Fbl A G 7: 27,878,411 (GRCm39) E301G probably damaging Het
Fez1 A T 9: 36,755,228 (GRCm39) N76Y probably damaging Het
Gnb4 C T 3: 32,645,356 (GRCm39) V112I probably benign Het
H2-Q4 T A 17: 35,598,901 (GRCm39) F57Y probably damaging Het
Ift88 T C 14: 57,718,965 (GRCm39) I650T possibly damaging Het
Kif1b A T 4: 149,354,346 (GRCm39) D231E possibly damaging Het
Lig4 A T 8: 10,022,021 (GRCm39) D586E probably benign Het
Mlc1 C A 15: 88,858,769 (GRCm39) L126F probably damaging Het
Muc4 A G 16: 32,754,253 (GRCm38) T1376A probably benign Het
Ncoa6 A T 2: 155,279,817 (GRCm39) D66E possibly damaging Het
Or6ae1 A G 7: 139,742,185 (GRCm39) V226A probably damaging Het
Or8b44 C T 9: 38,410,036 (GRCm39) Q24* probably null Het
Pard6a T C 8: 106,429,546 (GRCm39) V168A probably damaging Het
Pmpcb A G 5: 21,947,786 (GRCm39) N163S possibly damaging Het
Pramel27 A T 4: 143,577,263 (GRCm39) E15V possibly damaging Het
Prdm2 C T 4: 142,860,107 (GRCm39) C1061Y probably benign Het
Prkdc A G 16: 15,627,476 (GRCm39) Y3378C probably damaging Het
Sema6a A T 18: 47,415,015 (GRCm39) V425E probably damaging Het
Sema7a A T 9: 57,867,566 (GRCm39) E439D possibly damaging Het
Serpinf1 T A 11: 75,301,010 (GRCm39) T402S possibly damaging Het
Sf3a2 T C 10: 80,640,410 (GRCm39) probably benign Het
Skic3 T A 13: 76,321,545 (GRCm39) S1346T probably benign Het
Smchd1 A T 17: 71,762,722 (GRCm39) D172E probably damaging Het
Spag5 T G 11: 78,194,906 (GRCm39) I71S probably benign Het
Spata31d1d G A 13: 59,874,214 (GRCm39) A1107V probably benign Het
Svep1 A C 4: 58,070,537 (GRCm39) S2416R probably benign Het
Tbc1d9 A G 8: 83,969,221 (GRCm39) Y503C probably damaging Het
Tlr9 A T 9: 106,101,938 (GRCm39) I410F possibly damaging Het
Tmem87a C A 2: 120,199,787 (GRCm39) L452F probably benign Het
Tmprss11d A T 5: 86,454,154 (GRCm39) M217K probably benign Het
Uqcc4 G A 17: 25,403,963 (GRCm39) S101N probably damaging Het
Vmn2r80 T C 10: 78,984,755 (GRCm39) Y36H probably benign Het
Vmn2r87 A T 10: 130,315,817 (GRCm39) F83Y probably damaging Het
Vmp1 C T 11: 86,554,388 (GRCm39) R75H probably benign Het
Wapl T A 14: 34,413,863 (GRCm39) Y242N possibly damaging Het
Zfp473 T A 7: 44,391,156 (GRCm39) D6V 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
R4482:Cct5 UTSW 15 31,597,715 (GRCm39) missense probably damaging 1.00
R5331:Cct5 UTSW 15 31,594,448 (GRCm39) unclassified probably benign
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'- CAGATGTACAGGCTCACTCTGG -3'
(R):5'- ATGTTACTGCTCTAGTCAGCCC -3'

Sequencing Primer
(F):5'- GGCTCACTCTGGAACGTACTAATG -3'
(R):5'- AGTCAGCCCTCTCTGTTGATGTAG -3'
Posted On 2016-11-08