Incidental Mutation 'IGL02567:Pde4c'
| ID |
298882 |
| 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 # |
IGL02567
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
71176485-71203835 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71200570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 352
(M352K)
|
| 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
AA Change: M392K
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000034307
Gene: ENSMUSG00000031842
AA Change: M392K
| 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
AA Change: M392K
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000105722
Gene: ENSMUSG00000031842
AA Change: M392K
| 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
AA Change: M352K
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
C |
A |
11: 53,263,578 (GRCm39) |
S199R |
possibly damaging |
Het |
| Ano1 |
A |
G |
7: 144,165,362 (GRCm39) |
L621P |
probably damaging |
Het |
| Calcr |
C |
T |
6: 3,691,564 (GRCm39) |
V404M |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,736,339 (GRCm39) |
S635G |
possibly damaging |
Het |
| Ccl12 |
C |
A |
11: 81,993,447 (GRCm39) |
S28R |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdhr3 |
T |
C |
12: 33,088,900 (GRCm39) |
N761D |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,208,357 (GRCm39) |
|
probably null |
Het |
| Col28a1 |
T |
C |
6: 8,014,819 (GRCm39) |
K862R |
possibly damaging |
Het |
| Cyp2c66 |
C |
T |
19: 39,175,084 (GRCm39) |
|
probably benign |
Het |
| D5Ertd615e |
T |
C |
5: 45,320,758 (GRCm39) |
|
noncoding transcript |
Het |
| Deup1 |
T |
C |
9: 15,486,579 (GRCm39) |
E367G |
probably damaging |
Het |
| Dpp8 |
T |
G |
9: 64,986,058 (GRCm39) |
Y849* |
probably null |
Het |
| Efhc1 |
T |
A |
1: 21,043,188 (GRCm39) |
V369E |
probably damaging |
Het |
| Entrep2 |
T |
A |
7: 64,436,479 (GRCm39) |
M101L |
possibly damaging |
Het |
| Epg5 |
A |
G |
18: 78,076,288 (GRCm39) |
Y2562C |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,728,059 (GRCm39) |
|
probably null |
Het |
| Frem1 |
A |
T |
4: 82,918,292 (GRCm39) |
M551K |
probably damaging |
Het |
| Gba2 |
T |
C |
4: 43,567,281 (GRCm39) |
S889G |
probably benign |
Het |
| Golph3 |
C |
T |
15: 12,349,507 (GRCm39) |
R176* |
probably null |
Het |
| Got2 |
A |
T |
8: 96,598,829 (GRCm39) |
F191Y |
probably benign |
Het |
| Gtf2ird2 |
G |
T |
5: 134,241,890 (GRCm39) |
|
probably benign |
Het |
| H4c16 |
G |
A |
6: 136,781,272 (GRCm39) |
R36W |
probably damaging |
Het |
| Hivep3 |
A |
G |
4: 119,991,153 (GRCm39) |
T2218A |
probably damaging |
Het |
| Htr1f |
C |
T |
16: 64,746,611 (GRCm39) |
G227D |
probably benign |
Het |
| Ifi202b |
C |
T |
1: 173,791,370 (GRCm39) |
S436N |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,437,969 (GRCm39) |
V2109D |
probably damaging |
Het |
| Opa1 |
C |
A |
16: 29,407,104 (GRCm39) |
D29E |
probably benign |
Het |
| Papln |
C |
T |
12: 83,825,611 (GRCm39) |
P631S |
probably benign |
Het |
| Pigu |
T |
C |
2: 155,173,112 (GRCm39) |
T129A |
possibly damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,079,965 (GRCm39) |
H424Q |
probably damaging |
Het |
| Ptpn13 |
T |
G |
5: 103,710,157 (GRCm39) |
L1564R |
probably damaging |
Het |
| Rbm5 |
T |
C |
9: 107,621,473 (GRCm39) |
D642G |
probably damaging |
Het |
| Rnf111 |
T |
C |
9: 70,366,287 (GRCm39) |
T384A |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,633,555 (GRCm39) |
T393A |
probably damaging |
Het |
| Sned1 |
A |
T |
1: 93,202,069 (GRCm39) |
K619M |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Syt9 |
A |
G |
7: 107,035,868 (GRCm39) |
Y295C |
probably damaging |
Het |
| Taar7f |
T |
A |
10: 23,926,323 (GRCm39) |
Y306N |
probably damaging |
Het |
| Tmem107 |
T |
G |
11: 68,961,845 (GRCm39) |
L25V |
possibly damaging |
Het |
| Wdr24 |
T |
G |
17: 26,043,322 (GRCm39) |
I48S |
probably damaging |
Het |
| Zc3hc1 |
T |
C |
6: 30,374,848 (GRCm39) |
D231G |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,617,309 (GRCm39) |
K341E |
possibly damaging |
Het |
| Zfp142 |
T |
A |
1: 74,617,306 (GRCm39) |
S342C |
possibly damaging |
Het |
| Zfp142 |
T |
G |
1: 74,617,308 (GRCm39) |
K341T |
possibly damaging |
Het |
| Zfp804b |
T |
A |
5: 6,819,989 (GRCm39) |
I989L |
probably benign |
Het |
| Zfyve9 |
A |
C |
4: 108,531,720 (GRCm39) |
V1095G |
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 |
|
|
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