Incidental Mutation 'R4364:Cct2'
| ID |
325678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cct2
|
| Ensembl Gene |
ENSMUSG00000034024 |
| Gene Name |
chaperonin containing TCP1 subunit 2 |
| Synonyms |
Cctb |
| MMRRC Submission |
041672-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R4364 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
116886906-116899719 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116891056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 396
(V396A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047672]
|
| AlphaFold |
P80314 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047672
AA Change: V396A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036288
Gene: ENSMUSG00000034024
AA Change: V396A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
35 |
525 |
3.2e-150 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218502
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219690
|
| Meta Mutation Damage Score |
0.4774 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
93% (40/43) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amn |
A |
C |
12: 111,238,196 (GRCm39) |
N37H |
probably damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,827 (GRCm39) |
D301V |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,812,128 (GRCm39) |
E691G |
probably benign |
Het |
| Ccer1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
10: 97,530,232 (GRCm39) |
|
probably benign |
Het |
| Dhx35 |
C |
T |
2: 158,684,272 (GRCm39) |
Q516* |
probably null |
Het |
| Dop1b |
A |
G |
16: 93,567,812 (GRCm39) |
K1413R |
probably benign |
Het |
| Dpp9 |
T |
C |
17: 56,494,391 (GRCm39) |
H856R |
possibly damaging |
Het |
| Eif4e2 |
T |
C |
1: 87,152,093 (GRCm39) |
F97L |
probably benign |
Het |
| Exoc6b |
A |
T |
6: 84,980,161 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,405,999 (GRCm39) |
S917T |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,831,488 (GRCm39) |
Y2043N |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,819,154 (GRCm39) |
I312T |
probably damaging |
Het |
| Glipr1 |
T |
C |
10: 111,821,542 (GRCm39) |
N220S |
possibly damaging |
Het |
| Grid1 |
A |
G |
14: 34,667,989 (GRCm39) |
E172G |
probably benign |
Het |
| Hspa4l |
C |
A |
3: 40,721,241 (GRCm39) |
|
probably null |
Het |
| Il1rl2 |
G |
T |
1: 40,390,951 (GRCm39) |
R298L |
probably benign |
Het |
| Il7r |
T |
A |
15: 9,513,014 (GRCm39) |
H165L |
probably damaging |
Het |
| Krt87 |
T |
G |
15: 101,385,395 (GRCm39) |
M326L |
probably benign |
Het |
| Lcn10 |
G |
T |
2: 25,574,052 (GRCm39) |
C85F |
probably damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Nup205 |
C |
A |
6: 35,168,962 (GRCm39) |
P397Q |
probably benign |
Het |
| Or4d10 |
A |
G |
19: 12,051,861 (GRCm39) |
V45A |
probably benign |
Het |
| Or4f17-ps1 |
G |
A |
2: 111,357,985 (GRCm39) |
V127M |
probably benign |
Het |
| Or8b12c |
A |
T |
9: 37,715,486 (GRCm39) |
H93L |
probably benign |
Het |
| Prkce |
C |
T |
17: 86,784,279 (GRCm39) |
T218I |
probably damaging |
Het |
| Rhbdl2 |
T |
A |
4: 123,703,728 (GRCm39) |
M1K |
probably null |
Het |
| Ripor2 |
C |
T |
13: 24,905,694 (GRCm39) |
P947S |
probably benign |
Het |
| Shoc1 |
T |
G |
4: 59,082,294 (GRCm39) |
T445P |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,899,136 (GRCm39) |
L428P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,303,987 (GRCm39) |
V789A |
probably damaging |
Het |
| Taar8c |
C |
T |
10: 23,977,477 (GRCm39) |
V112M |
probably benign |
Het |
| Tex10 |
T |
C |
4: 48,468,774 (GRCm39) |
I51V |
probably benign |
Het |
| Ttll1 |
T |
A |
15: 83,384,195 (GRCm39) |
Q144L |
probably damaging |
Het |
|
| Other mutations in Cct2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- ATCAGCATCTCAGAGCAGCC -3'
(R):5'- TTTTGCAGAGAAGCATTGCTACC -3'
Sequencing Primer
(F):5'- TCTCAGAGCAGCCTACAAATG -3'
(R):5'- CAAAGCCCAAGACTAGTCGAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation