Incidental Mutation 'IGL01320:Ppid'
| ID |
74024 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppid
|
| Ensembl Gene |
ENSMUSG00000027804 |
| Gene Name |
peptidylprolyl isomerase D (cyclophilin D) |
| Synonyms |
CYP-40, cytoplasmic cyclophilin D, Ppidl, 4930564J03Rik, cyclophilin 40 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.787)
|
| Stock # |
IGL01320
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
79498649-79510957 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79502584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 46
(E46G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029382]
|
| AlphaFold |
Q9CR16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029382
AA Change: E101G
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029382
Gene: ENSMUSG00000027804
AA Change: E101G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
19 |
183 |
1.5e-49 |
PFAM |
|
low complexity region
|
208 |
222 |
N/A |
INTRINSIC |
|
TPR
|
223 |
256 |
1.78e-1 |
SMART |
|
TPR
|
273 |
306 |
2.59e-3 |
SMART |
|
TPR
|
307 |
340 |
2.82e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159505
AA Change: E46G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160799
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161876
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162690
|
| 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 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. This protein has been shown to possess PPIase activity and, similar to other family members, can bind to the immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,552,551 (GRCm39) |
E229G |
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,038,422 (GRCm39) |
L368Q |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,407,988 (GRCm39) |
S1410T |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,039,159 (GRCm39) |
|
probably benign |
Het |
| Bmal1 |
T |
C |
7: 112,902,614 (GRCm39) |
I421T |
probably damaging |
Het |
| Chrdl2 |
A |
G |
7: 99,666,248 (GRCm39) |
Y56C |
probably damaging |
Het |
| Crnn |
T |
C |
3: 93,055,519 (GRCm39) |
S102P |
probably damaging |
Het |
| Cyb5a |
T |
C |
18: 84,897,648 (GRCm39) |
I115T |
probably damaging |
Het |
| Daw1 |
T |
C |
1: 83,175,901 (GRCm39) |
I213T |
possibly damaging |
Het |
| Dcp1b |
T |
A |
6: 119,192,036 (GRCm39) |
S317R |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,473,205 (GRCm39) |
M3474V |
probably benign |
Het |
| E2f7 |
G |
A |
10: 110,589,954 (GRCm39) |
V36I |
probably benign |
Het |
| Esrp1 |
A |
G |
4: 11,384,374 (GRCm39) |
I103T |
possibly damaging |
Het |
| Hap1 |
G |
A |
11: 100,240,206 (GRCm39) |
T530I |
probably damaging |
Het |
| Hps3 |
T |
C |
3: 20,084,633 (GRCm39) |
N185S |
probably benign |
Het |
| Klra1 |
T |
A |
6: 130,341,224 (GRCm39) |
I250F |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,062,040 (GRCm39) |
T332A |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,027,784 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,186,991 (GRCm39) |
V11A |
probably benign |
Het |
| Nipsnap2 |
C |
T |
5: 129,821,828 (GRCm39) |
T108M |
probably damaging |
Het |
| Or10ab4 |
A |
G |
7: 107,654,188 (GRCm39) |
|
probably benign |
Het |
| Or5w22 |
T |
A |
2: 87,362,629 (GRCm39) |
M84K |
probably benign |
Het |
| Rrp12 |
A |
G |
19: 41,866,375 (GRCm39) |
L626P |
probably damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,240,606 (GRCm39) |
I410F |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,276,517 (GRCm39) |
|
probably benign |
Het |
| Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
| St8sia5 |
A |
T |
18: 77,342,318 (GRCm39) |
T307S |
probably damaging |
Het |
| Stac2 |
T |
C |
11: 97,930,921 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
T |
C |
17: 3,556,020 (GRCm39) |
L77P |
probably damaging |
Het |
| Tmem87b |
G |
T |
2: 128,673,136 (GRCm39) |
G190V |
probably damaging |
Het |
| Trav7-6 |
T |
C |
14: 53,954,565 (GRCm39) |
S32P |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,803,219 (GRCm39) |
|
probably null |
Het |
| Wnt1 |
C |
A |
15: 98,690,404 (GRCm39) |
D244E |
possibly damaging |
Het |
|
| Other mutations in Ppid |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01718:Ppid
|
APN |
3 |
79,500,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02347:Ppid
|
APN |
3 |
79,502,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1109:Ppid
|
UTSW |
3 |
79,506,168 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1965:Ppid
|
UTSW |
3 |
79,509,606 (GRCm39) |
nonsense |
probably null |
|
|
R1966:Ppid
|
UTSW |
3 |
79,509,606 (GRCm39) |
nonsense |
probably null |
|
|
R1980:Ppid
|
UTSW |
3 |
79,500,925 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4706:Ppid
|
UTSW |
3 |
79,506,359 (GRCm39) |
missense |
probably benign |
|
|
R4820:Ppid
|
UTSW |
3 |
79,502,504 (GRCm39) |
splice site |
probably null |
|
|
R5969:Ppid
|
UTSW |
3 |
79,505,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6243:Ppid
|
UTSW |
3 |
79,510,373 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7246:Ppid
|
UTSW |
3 |
79,498,740 (GRCm39) |
unclassified |
probably benign |
|
|
R7341:Ppid
|
UTSW |
3 |
79,507,604 (GRCm39) |
missense |
probably benign |
|
|
R7576:Ppid
|
UTSW |
3 |
79,507,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8696:Ppid
|
UTSW |
3 |
79,498,689 (GRCm39) |
unclassified |
probably benign |
|
|
R9328:Ppid
|
UTSW |
3 |
79,505,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation