Incidental Mutation 'IGL02484:Pde4c'
| ID |
295379 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pde4c
|
| Ensembl Gene |
ENSMUSG00000031842 |
| Gene Name |
phosphodiesterase 4C, cAMP specific |
| Synonyms |
Dpde1, dunce, E130301F19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02484
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
71176485-71203835 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 71200701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034307]
[ENSMUST00000110095]
[ENSMUST00000123739]
[ENSMUST00000224874]
|
| AlphaFold |
Q3UEI1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034307
|
| SMART Domains |
Protein: ENSMUSP00000034307
Gene: ENSMUSG00000031842
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
HDc
|
386 |
512 |
1.48e0 |
SMART |
|
Pfam:PDEase_I
|
526 |
598 |
5.3e-21 |
PFAM |
|
low complexity region
|
625 |
636 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110095
|
| SMART Domains |
Protein: ENSMUSP00000105722
Gene: ENSMUSG00000031842
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
HDc
|
386 |
561 |
5.11e-6 |
SMART |
|
low complexity region
|
659 |
670 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123739
|
| SMART Domains |
Protein: ENSMUSP00000119312
Gene: ENSMUSG00000031842
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128685
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134693
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149272
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224874
|
| 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 belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
C |
7: 29,262,777 (GRCm39) |
|
noncoding transcript |
Het |
| Araf |
A |
G |
X: 20,720,148 (GRCm39) |
|
probably benign |
Het |
| Arrb2 |
T |
A |
11: 70,330,300 (GRCm39) |
V308E |
probably damaging |
Het |
| Asap3 |
A |
G |
4: 135,956,768 (GRCm39) |
|
probably benign |
Het |
| Astn2 |
G |
A |
4: 65,910,516 (GRCm39) |
|
probably benign |
Het |
| Cactin |
T |
A |
10: 81,158,808 (GRCm39) |
I258N |
probably benign |
Het |
| Calhm6 |
T |
C |
10: 34,002,400 (GRCm39) |
T228A |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,910,345 (GRCm39) |
|
probably benign |
Het |
| Ccna1 |
C |
T |
3: 54,955,915 (GRCm39) |
D146N |
probably benign |
Het |
| Chrna3 |
T |
C |
9: 54,922,821 (GRCm39) |
Y329C |
probably damaging |
Het |
| Ctps2 |
G |
A |
X: 161,693,005 (GRCm39) |
G56D |
probably damaging |
Het |
| Cyp4b1 |
T |
C |
4: 115,504,754 (GRCm39) |
D44G |
probably benign |
Het |
| D3Ertd751e |
A |
G |
3: 41,708,155 (GRCm39) |
|
probably null |
Het |
| Daxx |
T |
C |
17: 34,131,216 (GRCm39) |
V381A |
probably damaging |
Het |
| Dhx37 |
T |
A |
5: 125,496,401 (GRCm39) |
I714F |
possibly damaging |
Het |
| Dnah7b |
T |
C |
1: 46,234,478 (GRCm39) |
V1470A |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,332,247 (GRCm39) |
I297T |
probably damaging |
Het |
| Fnd3c2 |
A |
T |
X: 105,289,092 (GRCm39) |
H442Q |
probably damaging |
Het |
| Glp2r |
A |
C |
11: 67,630,992 (GRCm39) |
V126G |
possibly damaging |
Het |
| Gm5699 |
G |
T |
1: 31,037,843 (GRCm39) |
|
noncoding transcript |
Het |
| Gpt2 |
A |
G |
8: 86,242,862 (GRCm39) |
D298G |
probably damaging |
Het |
| Gse1 |
G |
T |
8: 121,302,001 (GRCm39) |
|
probably benign |
Het |
| Hand1 |
T |
C |
11: 57,722,420 (GRCm39) |
T65A |
probably benign |
Het |
| Ints8 |
G |
A |
4: 11,208,834 (GRCm39) |
Q955* |
probably null |
Het |
| Lrguk |
C |
T |
6: 34,069,726 (GRCm39) |
P534S |
probably damaging |
Het |
| Lrp6 |
A |
G |
6: 134,518,886 (GRCm39) |
F60L |
probably benign |
Het |
| Mamld1 |
T |
C |
X: 70,162,258 (GRCm39) |
I423T |
possibly damaging |
Het |
| Mrpl22 |
G |
A |
11: 58,063,888 (GRCm39) |
S36N |
possibly damaging |
Het |
| Mug2 |
A |
G |
6: 122,049,712 (GRCm39) |
E915G |
probably damaging |
Het |
| Oosp2 |
T |
C |
19: 11,628,847 (GRCm39) |
T85A |
probably benign |
Het |
| Or5b94 |
T |
C |
19: 12,652,223 (GRCm39) |
F218S |
possibly damaging |
Het |
| Or5p68 |
C |
T |
7: 107,945,813 (GRCm39) |
R125Q |
probably damaging |
Het |
| Pdxdc1 |
T |
C |
16: 13,693,945 (GRCm39) |
E159G |
possibly damaging |
Het |
| Poln |
T |
C |
5: 34,286,721 (GRCm39) |
E149G |
probably damaging |
Het |
| Pou5f2 |
T |
G |
13: 78,174,024 (GRCm39) |
L322R |
probably damaging |
Het |
| Ppm1k |
A |
T |
6: 57,501,997 (GRCm39) |
S55R |
possibly damaging |
Het |
| Ptges2 |
T |
A |
2: 32,287,719 (GRCm39) |
I149N |
probably damaging |
Het |
| Pus7l |
A |
G |
15: 94,427,369 (GRCm39) |
V471A |
possibly damaging |
Het |
| Raet1e |
A |
T |
10: 22,056,666 (GRCm39) |
M81L |
probably benign |
Het |
| Sipa1l3 |
A |
G |
7: 29,098,956 (GRCm39) |
S438P |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,799,750 (GRCm39) |
K126* |
probably null |
Het |
| Stfa2 |
T |
C |
16: 36,225,569 (GRCm39) |
T37A |
probably damaging |
Het |
| Ttll12 |
A |
G |
15: 83,465,897 (GRCm39) |
I433T |
possibly damaging |
Het |
| Vmn2r32 |
C |
T |
7: 7,467,116 (GRCm39) |
G804D |
probably damaging |
Het |
| Zc3h14 |
A |
G |
12: 98,740,560 (GRCm39) |
T84A |
probably benign |
Het |
|
| Other mutations in Pde4c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01938:Pde4c
|
APN |
8 |
71,202,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02052:Pde4c
|
APN |
8 |
71,201,062 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02567:Pde4c
|
APN |
8 |
71,200,570 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03355:Pde4c
|
APN |
8 |
71,199,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
coffee
|
UTSW |
8 |
71,197,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
tea
|
UTSW |
8 |
71,201,621 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0396:Pde4c
|
UTSW |
8 |
71,202,725 (GRCm39) |
missense |
probably benign |
|
|
R1103:Pde4c
|
UTSW |
8 |
71,201,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1161:Pde4c
|
UTSW |
8 |
71,202,572 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1310:Pde4c
|
UTSW |
8 |
71,202,572 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1420:Pde4c
|
UTSW |
8 |
71,201,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1456:Pde4c
|
UTSW |
8 |
71,199,262 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1586:Pde4c
|
UTSW |
8 |
71,199,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1817:Pde4c
|
UTSW |
8 |
71,179,638 (GRCm39) |
missense |
probably benign |
|
|
R1818:Pde4c
|
UTSW |
8 |
71,179,638 (GRCm39) |
missense |
probably benign |
|
|
R1843:Pde4c
|
UTSW |
8 |
71,200,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1984:Pde4c
|
UTSW |
8 |
71,177,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Pde4c
|
UTSW |
8 |
71,200,007 (GRCm39) |
splice site |
probably null |
|
|
R2088:Pde4c
|
UTSW |
8 |
71,202,005 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4334:Pde4c
|
UTSW |
8 |
71,202,475 (GRCm39) |
splice site |
probably null |
|
|
R5369:Pde4c
|
UTSW |
8 |
71,202,754 (GRCm39) |
makesense |
probably null |
|
|
R5521:Pde4c
|
UTSW |
8 |
71,200,031 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6168:Pde4c
|
UTSW |
8 |
71,202,688 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6749:Pde4c
|
UTSW |
8 |
71,198,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7197:Pde4c
|
UTSW |
8 |
71,197,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7426:Pde4c
|
UTSW |
8 |
71,201,621 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9004:Pde4c
|
UTSW |
8 |
71,199,515 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9038:Pde4c
|
UTSW |
8 |
71,179,550 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9134:Pde4c
|
UTSW |
8 |
71,201,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9584:Pde4c
|
UTSW |
8 |
71,200,728 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9707:Pde4c
|
UTSW |
8 |
71,202,701 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation