Incidental Mutation 'R6749:Pde4c'
ID |
532890 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde4c
|
Ensembl Gene |
ENSMUSG00000031842 |
Gene Name |
phosphodiesterase 4C, cAMP specific |
Synonyms |
Dpde1, dunce, E130301F19Rik |
MMRRC Submission |
044866-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6749 (G1)
|
Quality Score |
199.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
71176485-71203835 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 71198659 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 167
(V167A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119312
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034307]
[ENSMUST00000110095]
[ENSMUST00000123739]
[ENSMUST00000224874]
|
AlphaFold |
Q3UEI1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034307
AA Change: V167A
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000034307 Gene: ENSMUSG00000031842 AA Change: V167A
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 |
possibly damaging
Transcript: ENSMUST00000110095
AA Change: V167A
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000105722 Gene: ENSMUSG00000031842 AA Change: V167A
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 damaging
Transcript: ENSMUST00000123739
AA Change: V167A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119312 Gene: ENSMUSG00000031842 AA Change: V167A
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224874
AA Change: V127A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.2116 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (47/47) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
G |
11: 119,901,600 (GRCm39) |
V875A |
possibly damaging |
Het |
Arhgef15 |
A |
T |
11: 68,845,383 (GRCm39) |
F156L |
probably damaging |
Het |
Bdh2 |
T |
A |
3: 135,006,452 (GRCm39) |
S184T |
probably damaging |
Het |
Bmp5 |
A |
T |
9: 75,683,375 (GRCm39) |
M1L |
probably benign |
Het |
Cacfd1 |
T |
C |
2: 26,908,467 (GRCm39) |
Y134H |
probably damaging |
Het |
Camk1 |
G |
A |
6: 113,311,486 (GRCm39) |
P340L |
probably benign |
Het |
Cdc14a |
T |
C |
3: 116,090,807 (GRCm39) |
H424R |
possibly damaging |
Het |
Cntfr |
T |
A |
4: 41,663,232 (GRCm39) |
T192S |
possibly damaging |
Het |
Erbin |
G |
T |
13: 103,970,885 (GRCm39) |
S910R |
probably damaging |
Het |
Esrp1 |
A |
T |
4: 11,357,519 (GRCm39) |
V366E |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,808,738 (GRCm39) |
S1686T |
possibly damaging |
Het |
Gata5 |
A |
G |
2: 179,976,143 (GRCm39) |
L7S |
probably damaging |
Het |
Hgf |
T |
A |
5: 16,818,640 (GRCm39) |
|
probably null |
Het |
Ift140 |
A |
G |
17: 25,317,890 (GRCm39) |
E1458G |
probably damaging |
Het |
Ift57 |
G |
A |
16: 49,581,347 (GRCm39) |
G209R |
probably benign |
Het |
Il12rb2 |
G |
T |
6: 67,338,950 (GRCm39) |
|
probably benign |
Het |
Krt78 |
G |
A |
15: 101,859,358 (GRCm39) |
R280C |
probably damaging |
Het |
Lipc |
A |
G |
9: 70,730,668 (GRCm39) |
I88T |
probably damaging |
Het |
Lrmda |
G |
T |
14: 22,077,344 (GRCm39) |
R27L |
probably benign |
Het |
Lrrc37a |
T |
G |
11: 103,392,923 (GRCm39) |
E834A |
probably benign |
Het |
Mmachc |
C |
A |
4: 116,561,738 (GRCm39) |
R132L |
probably damaging |
Het |
Myo10 |
T |
C |
15: 25,714,196 (GRCm39) |
Y88H |
probably damaging |
Het |
Myo5b |
G |
A |
18: 74,834,574 (GRCm39) |
R878Q |
possibly damaging |
Het |
Or2y1f |
A |
G |
11: 49,184,877 (GRCm39) |
H243R |
probably damaging |
Het |
Padi3 |
T |
C |
4: 140,523,164 (GRCm39) |
T289A |
possibly damaging |
Het |
Pcdhgb4 |
G |
T |
18: 37,854,282 (GRCm39) |
A226S |
possibly damaging |
Het |
Pigr |
A |
G |
1: 130,774,285 (GRCm39) |
T422A |
probably benign |
Het |
Pmp2 |
T |
C |
3: 10,247,542 (GRCm39) |
Y49C |
probably benign |
Het |
Prpf39 |
A |
G |
12: 65,103,048 (GRCm39) |
I441V |
possibly damaging |
Het |
Ptprs |
A |
G |
17: 56,744,884 (GRCm39) |
V284A |
probably damaging |
Het |
Rsad1 |
T |
C |
11: 94,434,166 (GRCm39) |
E354G |
probably damaging |
Het |
Sema4b |
T |
A |
7: 79,869,949 (GRCm39) |
D412E |
possibly damaging |
Het |
Siglecg |
A |
G |
7: 43,058,403 (GRCm39) |
I97V |
probably benign |
Het |
Slc4a3 |
C |
T |
1: 75,531,182 (GRCm39) |
R792* |
probably null |
Het |
Slc6a20a |
A |
G |
9: 123,466,135 (GRCm39) |
C569R |
probably damaging |
Het |
Spata19 |
T |
C |
9: 27,309,276 (GRCm39) |
V59A |
probably benign |
Het |
Sult2a3 |
T |
A |
7: 13,816,629 (GRCm39) |
Y183F |
probably benign |
Het |
Tedc1 |
C |
T |
12: 113,121,702 (GRCm39) |
T194M |
probably damaging |
Het |
Tektl1 |
A |
C |
10: 78,588,672 (GRCm39) |
M46R |
possibly damaging |
Het |
Tmem63c |
T |
A |
12: 87,122,439 (GRCm39) |
N412K |
probably damaging |
Het |
Trav5-1 |
T |
C |
14: 52,860,402 (GRCm39) |
I69T |
possibly damaging |
Het |
Trim68 |
T |
C |
7: 102,327,990 (GRCm39) |
D321G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,695,600 (GRCm39) |
|
probably benign |
Het |
Vars2 |
A |
G |
17: 35,977,605 (GRCm39) |
V109A |
probably damaging |
Het |
Vmn2r96 |
C |
T |
17: 18,818,352 (GRCm39) |
P643L |
probably damaging |
Het |
Zfpm2 |
G |
T |
15: 40,818,104 (GRCm39) |
V146F |
possibly damaging |
Het |
Znfx1 |
T |
C |
2: 166,898,519 (GRCm39) |
K135R |
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 |
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 |
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 |
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 |
PCR Primer
(F):5'- CCTCAGTGATGGTCTTGTCCTG -3'
(R):5'- CAGAGGACTTTCACAGCTGC -3'
Sequencing Primer
(F):5'- ATGGTCTTGTCCTGCAGAC -3'
(R):5'- ATACCTGTTGGGGCTGCC -3'
|
Posted On |
2018-08-29 |