Incidental Mutation 'R0036:Ppic'
| ID |
15433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppic
|
| Ensembl Gene |
ENSMUSG00000024538 |
| Gene Name |
peptidylprolyl isomerase C |
| Synonyms |
CyP-20c, cyclophilin C |
| MMRRC Submission |
038330-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R0036 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
53539413-53551079 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53542264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 148
(I148N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025419]
|
| AlphaFold |
P30412 |
| PDB Structure |
Crystal structure of murine cyclophilin C complexed with immunosuppressive drug cyclosporin A [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025419
AA Change: I148N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025419
Gene: ENSMUSG00000024538
AA Change: I148N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pro_isomerase
|
41 |
198 |
2e-49 |
PFAM |
|
| Meta Mutation Damage Score |
0.9573 |
| Coding Region Coverage |
- 1x: 79.1%
- 3x: 69.3%
- 10x: 43.3%
- 20x: 23.5%
|
| Validation Efficiency |
91% (49/54) |
| 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 member of the peptidyl-prolyl cis-trans isomerase (PPIase)) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. Similar to other PPIases, this protein can bind immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cfap44 |
A |
G |
16: 44,259,432 (GRCm39) |
E1098G |
possibly damaging |
Het |
| Cfap95 |
A |
T |
19: 23,593,932 (GRCm39) |
|
probably benign |
Het |
| Ctsq |
C |
T |
13: 61,185,485 (GRCm39) |
|
probably null |
Het |
| Dock9 |
C |
T |
14: 121,860,265 (GRCm39) |
V886M |
probably damaging |
Het |
| Eaf2 |
T |
C |
16: 36,621,020 (GRCm39) |
Y224C |
probably benign |
Het |
| Eif5b |
T |
A |
1: 38,058,192 (GRCm39) |
S165T |
probably benign |
Het |
| Eln |
A |
G |
5: 134,739,914 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
A |
G |
5: 37,291,648 (GRCm39) |
K514R |
probably null |
Het |
| Myo1e |
T |
A |
9: 70,248,590 (GRCm39) |
W435R |
probably damaging |
Het |
| Nadsyn1 |
T |
C |
7: 143,365,028 (GRCm39) |
I226V |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,184,194 (GRCm39) |
|
probably benign |
Het |
| Phrf1 |
T |
C |
7: 140,841,693 (GRCm39) |
M1435T |
probably damaging |
Het |
| Sdr16c6 |
C |
A |
4: 4,063,335 (GRCm39) |
|
probably benign |
Het |
| Sgo2a |
T |
C |
1: 58,054,787 (GRCm39) |
S324P |
probably benign |
Het |
| Slf1 |
G |
T |
13: 77,249,070 (GRCm39) |
Q373K |
probably benign |
Het |
| Tfg |
G |
T |
16: 56,511,358 (GRCm39) |
Q324K |
probably benign |
Het |
| Wdr64 |
G |
T |
1: 175,556,496 (GRCm39) |
G248* |
probably null |
Het |
|
| Other mutations in Ppic |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Ppic
|
APN |
18 |
53,542,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01578:Ppic
|
APN |
18 |
53,551,001 (GRCm39) |
missense |
unknown |
|
|
R0403:Ppic
|
UTSW |
18 |
53,544,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1642:Ppic
|
UTSW |
18 |
53,540,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2394:Ppic
|
UTSW |
18 |
53,544,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5273:Ppic
|
UTSW |
18 |
53,542,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5870:Ppic
|
UTSW |
18 |
53,542,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6770:Ppic
|
UTSW |
18 |
53,544,657 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7357:Ppic
|
UTSW |
18 |
53,544,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8544:Ppic
|
UTSW |
18 |
53,544,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8825:Ppic
|
UTSW |
18 |
53,542,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-21 |
Incidental Mutation