Incidental Mutation 'R1161:Pde4c'
ID |
100409 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde4c
|
Ensembl Gene |
ENSMUSG00000031842 |
Gene Name |
phosphodiesterase 4C, cAMP specific |
Synonyms |
Dpde1, dunce, E130301F19Rik |
MMRRC Submission |
039234-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1161 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
71176485-71203835 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71202572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 592
(D592G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034301]
[ENSMUST00000034307]
[ENSMUST00000110090]
[ENSMUST00000110093]
[ENSMUST00000110095]
[ENSMUST00000123739]
[ENSMUST00000224874]
[ENSMUST00000143118]
|
AlphaFold |
Q3UEI1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034301
|
SMART Domains |
Protein: ENSMUSP00000034301 Gene: ENSMUSG00000031840
Domain | Start | End | E-Value | Type |
RAB
|
23 |
186 |
1.27e-98 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034307
AA Change: D592G
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000034307 Gene: ENSMUSG00000031842 AA Change: D592G
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: ENSMUST00000110090
|
SMART Domains |
Protein: ENSMUSP00000105717 Gene: ENSMUSG00000031840
Domain | Start | End | E-Value | Type |
RAB
|
23 |
186 |
1.27e-98 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110093
|
SMART Domains |
Protein: ENSMUSP00000105720 Gene: ENSMUSG00000031840
Domain | Start | End | E-Value | Type |
RAB
|
23 |
186 |
1.27e-98 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110095
AA Change: D626G
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000105722 Gene: ENSMUSG00000031842 AA Change: D626G
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: ENSMUST00000149272
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134693
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224874
AA Change: D586G
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143118
|
SMART Domains |
Protein: ENSMUSP00000123384 Gene: ENSMUSG00000031840
Domain | Start | End | E-Value | Type |
Pfam:Miro
|
1 |
43 |
2.5e-6 |
PFAM |
Pfam:Ras
|
1 |
62 |
3.8e-19 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.4%
- 10x: 95.7%
- 20x: 89.6%
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcl10 |
T |
G |
3: 145,636,180 (GRCm39) |
V26G |
probably damaging |
Het |
C4b |
A |
G |
17: 34,948,567 (GRCm39) |
V1581A |
probably damaging |
Het |
Camk1g |
T |
C |
1: 193,030,662 (GRCm39) |
D349G |
probably benign |
Het |
Ccdc106 |
G |
A |
7: 5,062,539 (GRCm39) |
D11N |
possibly damaging |
Het |
Ckap5 |
T |
G |
2: 91,429,720 (GRCm39) |
L1464R |
probably null |
Het |
Def6 |
G |
A |
17: 28,436,593 (GRCm39) |
V86I |
probably benign |
Het |
Dnm3 |
T |
A |
1: 162,181,143 (GRCm39) |
T179S |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Eme1 |
G |
A |
11: 94,536,368 (GRCm39) |
R534C |
probably damaging |
Het |
Fhip1a |
A |
G |
3: 85,579,775 (GRCm39) |
I810T |
probably damaging |
Het |
Fzd3 |
G |
A |
14: 65,449,537 (GRCm39) |
R514C |
probably damaging |
Het |
H2-T24 |
G |
T |
17: 36,325,888 (GRCm39) |
Y234* |
probably null |
Het |
Ifit1bl1 |
A |
G |
19: 34,571,096 (GRCm39) |
S454P |
possibly damaging |
Het |
Ipcef1 |
T |
A |
10: 6,930,288 (GRCm39) |
|
probably null |
Het |
Mmel1 |
C |
T |
4: 154,979,671 (GRCm39) |
R764C |
probably damaging |
Het |
Or7e166 |
A |
G |
9: 19,624,476 (GRCm39) |
M118V |
probably damaging |
Het |
Prx |
T |
C |
7: 27,219,102 (GRCm39) |
F1340S |
probably damaging |
Het |
Rgs7 |
T |
C |
1: 174,907,021 (GRCm39) |
T90A |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,584,123 (GRCm39) |
W1497* |
probably null |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Srrm3 |
CAAGAAGAAGAAGAA |
CAAGAAGAAGAA |
5: 135,883,246 (GRCm39) |
|
probably benign |
Het |
Svep1 |
T |
A |
4: 58,069,416 (GRCm39) |
Y2790F |
possibly damaging |
Het |
Tmeff2 |
T |
C |
1: 51,220,946 (GRCm39) |
V307A |
probably damaging |
Het |
Tmem38a |
T |
A |
8: 73,333,814 (GRCm39) |
F98I |
probably damaging |
Het |
Trp73 |
A |
G |
4: 154,165,780 (GRCm39) |
|
probably null |
Het |
Usp29 |
A |
G |
7: 6,964,529 (GRCm39) |
E124G |
probably damaging |
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 |
IGL02484:Pde4c
|
APN |
8 |
71,200,701 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
|
|
Predicted Primers |
|
Posted On |
2014-01-15 |