Incidental Mutation 'IGL02150:Cct2'
ID281931
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cct2
Ensembl Gene ENSMUSG00000034024
Gene Namechaperonin containing Tcp1, subunit 2 (beta)
SynonymsCctb
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.962) question?
Stock #IGL02150
Quality Score
Status
Chromosome10
Chromosomal Location117051001-117063814 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 117062099 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 61 (L61Q)
Ref Sequence ENSEMBL: ENSMUSP00000151306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047672] [ENSMUST00000218059] [ENSMUST00000218719] [ENSMUST00000219036] [ENSMUST00000219573]
Predicted Effect probably benign
Transcript: ENSMUST00000047672
AA Change: L61Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000036288
Gene: ENSMUSG00000034024
AA Change: L61Q

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 35 525 3.2e-150 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000218059
AA Change: L14Q

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218502
Predicted Effect possibly damaging
Transcript: ENSMUST00000218719
AA Change: L14Q

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219036
AA Change: L61Q

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000219573
AA Change: L61Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik G A 7: 140,297,859 G918D possibly damaging Het
9530053A07Rik T A 7: 28,146,779 Y965* probably null Het
AI464131 A G 4: 41,499,183 V149A possibly damaging Het
Ankdd1a C T 9: 65,512,719 G92S probably damaging Het
Arid1a A T 4: 133,687,257 M1221K unknown Het
Arl10 G A 13: 54,578,849 V147M probably damaging Het
Bbs4 T C 9: 59,336,368 N152S probably benign Het
Cacna2d2 T G 9: 107,527,316 probably benign Het
Capn9 A G 8: 124,613,843 E582G probably benign Het
Clip4 A G 17: 71,799,076 I85V probably damaging Het
Daam2 A T 17: 49,490,304 L151Q possibly damaging Het
Dlst T A 12: 85,131,033 I400N possibly damaging Het
Dock7 A T 4: 99,079,852 probably benign Het
Dynlrb2 A G 8: 116,515,710 N93S probably benign Het
Efl1 A G 7: 82,686,691 T407A probably benign Het
Emilin1 A G 5: 30,920,173 D891G possibly damaging Het
Enpp4 A C 17: 44,102,158 S162A probably benign Het
Epas1 A G 17: 86,805,289 D105G probably damaging Het
Gcn1l1 T A 5: 115,609,868 I1778N probably damaging Het
Gm14496 A C 2: 181,991,347 D41A probably damaging Het
Gm7008 T A 12: 40,223,258 probably benign Het
Hcfc2 G A 10: 82,710,018 S246N probably damaging Het
Hectd1 T C 12: 51,769,191 N1366S probably damaging Het
Lgmn T C 12: 102,395,727 R372G possibly damaging Het
Map2k7 A G 8: 4,243,818 M153V possibly damaging Het
Megf8 T A 7: 25,346,417 probably null Het
Mgat4c A C 10: 102,389,122 E399A probably benign Het
Nfat5 C T 8: 107,367,952 Q942* probably null Het
Notch4 A G 17: 34,584,613 E1502G probably damaging Het
Olfr6 G T 7: 106,956,556 P127T probably damaging Het
Olfr895 A T 9: 38,269,268 I252L possibly damaging Het
Optn A C 2: 5,033,152 I410M probably damaging Het
Ppp1ca G A 19: 4,194,699 probably benign Het
Pramel5 C A 4: 144,273,201 L105F possibly damaging Het
Rad54b T A 4: 11,610,502 N706K probably damaging Het
Rgs11 A T 17: 26,202,994 T6S probably benign Het
Sbf1 T C 15: 89,295,480 H1308R probably benign Het
Sec31a T C 5: 100,386,125 probably benign Het
Sh2d5 G A 4: 138,258,242 D334N probably benign Het
Skint5 T A 4: 113,885,791 I360F unknown Het
Slc12a1 G A 2: 125,184,815 D457N probably damaging Het
Slco2a1 C T 9: 103,084,818 A563V probably damaging Het
Snrnp35 G A 5: 124,490,408 A95T probably damaging Het
Snx25 C A 8: 46,116,281 R193L possibly damaging Het
Stxbp5 T G 10: 9,762,821 Q1078P probably damaging Het
Tmc2 A T 2: 130,240,153 I419F probably damaging Het
Tmem87a A T 2: 120,360,076 W525R probably damaging Het
Trhde A T 10: 114,592,108 S428T probably damaging Het
Trp73 G A 4: 154,081,486 A42V possibly damaging Het
Ttn T C 2: 76,848,972 probably benign Het
Ttn C T 2: 76,768,502 V19356M probably damaging Het
Vmn1r170 T A 7: 23,607,040 L289* probably null Het
Vwa5b2 A T 16: 20,604,826 Q1163L probably benign Het
Washc2 T A 6: 116,231,632 probably benign Het
Wdr70 T G 15: 8,082,546 K71T possibly damaging Het
Zbtb41 T C 1: 139,440,448 S625P possibly damaging Het
Zfp518b A G 5: 38,673,343 S440P probably damaging Het
Zfp518b A G 5: 38,673,789 V291A probably damaging Het
Zmym2 G A 14: 56,911,069 probably benign Het
Other mutations in Cct2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02111:Cct2 APN 10 117053112 missense probably damaging 0.99
IGL02349:Cct2 APN 10 117053139 missense probably benign 0.04
IGL03010:Cct2 APN 10 117058114 missense probably damaging 1.00
IGL03155:Cct2 APN 10 117060671 missense probably damaging 0.99
R0507:Cct2 UTSW 10 117055246 splice site probably null
R0742:Cct2 UTSW 10 117055246 splice site probably null
R1102:Cct2 UTSW 10 117060640 splice site probably null
R1438:Cct2 UTSW 10 117054992 unclassified probably benign
R2040:Cct2 UTSW 10 117053113 missense probably benign 0.00
R2157:Cct2 UTSW 10 117062809 splice site probably benign
R2227:Cct2 UTSW 10 117053017 missense probably null 0.18
R3410:Cct2 UTSW 10 117062063 missense probably benign 0.01
R3981:Cct2 UTSW 10 117054135 missense probably damaging 1.00
R3983:Cct2 UTSW 10 117054135 missense probably damaging 1.00
R4364:Cct2 UTSW 10 117055151 missense probably damaging 1.00
R4401:Cct2 UTSW 10 117057809 missense possibly damaging 0.61
R6162:Cct2 UTSW 10 117058186 missense probably damaging 0.99
R6300:Cct2 UTSW 10 117056159 missense probably damaging 0.96
R6312:Cct2 UTSW 10 117056055 missense probably benign 0.00
R7075:Cct2 UTSW 10 117061465 missense unknown
R7198:Cct2 UTSW 10 117053124 missense probably benign
R7236:Cct2 UTSW 10 117061559 missense probably benign 0.00
R8373:Cct2 UTSW 10 117060824 missense possibly damaging 0.95
Posted On2015-04-16