Incidental Mutation 'R7236:Cct2'
ID 562835
Institutional Source Beutler Lab
Gene Symbol Cct2
Ensembl Gene ENSMUSG00000034024
Gene Name chaperonin containing TCP1 subunit 2
Synonyms Cctb
MMRRC Submission 045306-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R7236 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 116886906-116899719 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116897464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 93 (D93E)
Ref Sequence ENSEMBL: ENSMUSP00000036288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047672] [ENSMUST00000218059] [ENSMUST00000218719] [ENSMUST00000219036] [ENSMUST00000219573]
AlphaFold P80314
Predicted Effect probably benign
Transcript: ENSMUST00000047672
AA Change: D93E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000036288
Gene: ENSMUSG00000034024
AA Change: D93E

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 35 525 3.2e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218059
AA Change: D46E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000218719
AA Change: D46E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000219036
AA Change: D93E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000219573
AA Change: D93E

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
Meta Mutation Damage Score 0.0681 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (66/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 C T 19: 4,921,644 (GRCm39) V179I probably benign Het
Adra1b A G 11: 43,667,151 (GRCm39) I362T possibly damaging Het
B3galnt1 T C 3: 69,482,950 (GRCm39) K104E probably benign Het
Bnc2 T C 4: 84,474,101 (GRCm39) Y15C probably benign Het
C2cd2l C A 9: 44,228,960 (GRCm39) A124S possibly damaging Het
Camsap3 T A 8: 3,654,116 (GRCm39) F595L probably damaging Het
Cd200l2 A T 16: 45,348,030 (GRCm39) I169N possibly damaging Het
Cemip A T 7: 83,598,012 (GRCm39) probably null Het
Ciapin1 T C 8: 95,550,338 (GRCm39) T34A Het
Dop1a G A 9: 86,397,431 (GRCm39) V912I probably damaging Het
Efcab3 A T 11: 104,790,093 (GRCm39) Q2832L probably benign Het
Eif3c T C 7: 126,151,495 (GRCm39) T610A possibly damaging Het
Ephb3 A G 16: 21,033,231 (GRCm39) R106G probably damaging Het
Ephx3 T A 17: 32,404,328 (GRCm39) probably null Het
Etv2 A T 7: 30,334,455 (GRCm39) S93T probably benign Het
Fbxo34 T A 14: 47,767,841 (GRCm39) D451E probably benign Het
Fmo9 A G 1: 166,504,140 (GRCm39) F141L probably damaging Het
Fryl T C 5: 73,265,821 (GRCm39) K500R possibly damaging Het
Gfra3 T C 18: 34,828,884 (GRCm39) D170G probably damaging Het
Gnptg T C 17: 25,458,897 (GRCm39) N34S possibly damaging Het
Golga5 T A 12: 102,441,034 (GRCm39) probably null Het
Herc2 G T 7: 55,734,828 (GRCm39) L139F probably benign Het
Ikzf2 T A 1: 69,578,240 (GRCm39) N423I probably benign Het
Il31ra A T 13: 112,660,439 (GRCm39) *717R probably null Het
Itga2 G T 13: 115,014,227 (GRCm39) Q234K probably benign Het
Kcnt1 A T 2: 25,799,951 (GRCm39) probably null Het
Kif19b G T 5: 140,457,400 (GRCm39) A390S probably benign Het
Man2a2 T C 7: 80,018,653 (GRCm39) S69G probably damaging Het
Mccc1 A G 3: 36,037,944 (GRCm39) V294A probably benign Het
Mphosph8 T A 14: 56,911,754 (GRCm39) I259K possibly damaging Het
Mrpl15 A T 1: 4,846,711 (GRCm39) N288K probably benign Het
Msantd2 T C 9: 37,400,965 (GRCm39) W116R probably damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Mtmr10 T C 7: 63,963,932 (GRCm39) probably benign Het
Mylk A T 16: 34,742,899 (GRCm39) D1137V probably damaging Het
Nhsl1 A G 10: 18,401,512 (GRCm39) K879E probably damaging Het
Or8j3c A T 2: 86,253,533 (GRCm39) C162* probably null Het
Pak6 A G 2: 118,523,909 (GRCm39) T355A probably benign Het
Patj C T 4: 98,299,294 (GRCm39) R139C probably damaging Het
Pcdhb3 C T 18: 37,434,505 (GRCm39) A157V probably damaging Het
Phkg1 C A 5: 129,895,802 (GRCm39) D150Y probably damaging Het
Ppp2r5c C T 12: 110,432,323 (GRCm39) S45L probably benign Het
Prl4a1 A C 13: 28,202,556 (GRCm39) T44P probably benign Het
Ptpro G A 6: 137,345,335 (GRCm39) V114M probably damaging Het
Pwp1 A G 10: 85,715,147 (GRCm39) N211S probably benign Het
Ralgapb A G 2: 158,282,747 (GRCm39) D504G probably benign Het
Rock2 A T 12: 16,979,003 (GRCm39) I98F probably damaging Het
Senp6 G T 9: 80,040,247 (GRCm39) V785L probably damaging Het
Simc1 A G 13: 54,672,609 (GRCm39) D319G probably benign Het
Tas2r105 A T 6: 131,663,723 (GRCm39) I235N probably damaging Het
Tas2r110 A T 6: 132,845,667 (GRCm39) M233L possibly damaging Het
Tmem260 C T 14: 48,746,647 (GRCm39) probably null Het
Trank1 G T 9: 111,202,142 (GRCm39) V1590L possibly damaging Het
Tsc2 A T 17: 24,842,568 (GRCm39) M286K possibly damaging Het
Ttn T C 2: 76,697,796 (GRCm39) T202A Het
Ttyh1 A G 7: 4,136,663 (GRCm39) N424D probably benign Het
Usp24 T A 4: 106,263,502 (GRCm39) probably null Het
Utp20 G T 10: 88,585,204 (GRCm39) P2620Q probably benign Het
Vmn1r45 A G 6: 89,910,133 (GRCm39) M279T probably benign Het
Vmn2r115 T A 17: 23,578,576 (GRCm39) I683K probably benign Het
Vmn2r34 T C 7: 7,684,750 (GRCm39) K481E probably damaging Het
Vmn2r54 T A 7: 12,365,917 (GRCm39) H339L possibly damaging Het
Vmn2r94 T A 17: 18,477,811 (GRCm39) N200I possibly damaging Het
Wdfy3 A G 5: 101,984,074 (GRCm39) Y3493H probably damaging Het
Wdr5b A G 16: 35,862,208 (GRCm39) D109G possibly damaging Het
Zfp286 A T 11: 62,674,496 (GRCm39) probably null 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
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'- CAACCTGAGATGATGGTCTGTGG -3'
(R):5'- AGGCCTAACTTGGTGAGACAG -3'

Sequencing Primer
(F):5'- CTGAGATGATGGTCTGTGGATGTATC -3'
(R):5'- GGTTAATTTACATGAACTCGTGAGGC -3'
Posted On 2019-06-26