Incidental Mutation 'R1586:Pde4c'
| ID |
177513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4c
|
| Ensembl Gene |
ENSMUSG00000031842 |
| Gene Name |
phosphodiesterase 4C, cAMP specific |
| Synonyms |
Dpde1, dunce, E130301F19Rik |
| MMRRC Submission |
039623-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1586 (G1)
|
| Quality Score |
103 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71176485-71203835 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71199508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 223
(Y223N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034307]
[ENSMUST00000110095]
[ENSMUST00000123739]
[ENSMUST00000224874]
|
| AlphaFold |
Q3UEI1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034307
AA Change: Y263N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034307
Gene: ENSMUSG00000031842
AA Change: Y263N
| 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 damaging
Transcript: ENSMUST00000110095
AA Change: Y263N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105722
Gene: ENSMUSG00000031842
AA Change: Y263N
| 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 damaging
Transcript: ENSMUST00000224874
AA Change: Y223N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.3158 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.8%
|
| Validation Efficiency |
93% (65/70) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
C |
T |
2: 25,337,228 (GRCm39) |
A2361V |
probably damaging |
Het |
| Alpi |
A |
G |
1: 87,027,923 (GRCm39) |
I219T |
probably damaging |
Het |
| Anapc10 |
T |
A |
8: 80,501,772 (GRCm39) |
M180K |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,713,708 (GRCm39) |
I431V |
probably damaging |
Het |
| Anxa8 |
T |
A |
14: 33,815,894 (GRCm39) |
D182E |
probably damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,678,808 (GRCm39) |
I945F |
probably damaging |
Het |
| Atp2a3 |
T |
C |
11: 72,882,570 (GRCm39) |
S1019P |
probably damaging |
Het |
| Cbs |
T |
A |
17: 31,841,448 (GRCm39) |
I258F |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,985,386 (GRCm39) |
S277P |
probably damaging |
Het |
| Cidea |
T |
A |
18: 67,493,230 (GRCm39) |
V83E |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,997 (GRCm39) |
G1031S |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,516,477 (GRCm39) |
I373T |
possibly damaging |
Het |
| Cpvl |
T |
A |
6: 53,903,886 (GRCm39) |
D293V |
probably damaging |
Het |
| Cryz |
A |
G |
3: 154,317,147 (GRCm39) |
N122S |
probably benign |
Het |
| Dmap1 |
T |
C |
4: 117,533,319 (GRCm39) |
E245G |
probably damaging |
Het |
| Epha2 |
C |
T |
4: 141,045,916 (GRCm39) |
|
probably benign |
Het |
| Fam222b |
C |
T |
11: 78,045,347 (GRCm39) |
L303F |
probably damaging |
Het |
| Fastkd1 |
T |
C |
2: 69,542,492 (GRCm39) |
D105G |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,943,009 (GRCm39) |
L634Q |
probably damaging |
Het |
| Fbxo10 |
A |
T |
4: 45,042,036 (GRCm39) |
I731N |
possibly damaging |
Het |
| Fig4 |
A |
G |
10: 41,141,423 (GRCm39) |
F279L |
probably damaging |
Het |
| Guk1 |
A |
G |
11: 59,077,675 (GRCm39) |
S22P |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,762,934 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,403,639 (GRCm39) |
S727T |
probably benign |
Het |
| Mki67 |
T |
A |
7: 135,315,701 (GRCm39) |
K54* |
probably null |
Het |
| Ms4a8a |
T |
C |
19: 11,053,696 (GRCm39) |
T137A |
possibly damaging |
Het |
| Myo5c |
T |
C |
9: 75,174,313 (GRCm39) |
Y557H |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,689,115 (GRCm39) |
K387N |
probably damaging |
Het |
| Oga |
T |
G |
19: 45,765,349 (GRCm39) |
T153P |
possibly damaging |
Het |
| Or5bb10 |
G |
T |
19: 12,206,241 (GRCm39) |
A223E |
probably damaging |
Het |
| Psd |
T |
G |
19: 46,303,237 (GRCm39) |
E715A |
probably damaging |
Het |
| Rpl7 |
A |
T |
1: 16,172,807 (GRCm39) |
S171T |
probably benign |
Het |
| Rrm1 |
A |
G |
7: 102,116,112 (GRCm39) |
*66W |
probably null |
Het |
| Scgb1b3 |
T |
A |
7: 31,075,388 (GRCm39) |
H79Q |
probably damaging |
Het |
| Serpinb9 |
A |
T |
13: 33,199,469 (GRCm39) |
M255L |
probably benign |
Het |
| Slc35a4 |
T |
C |
18: 36,816,058 (GRCm39) |
V296A |
probably benign |
Het |
| Smgc |
G |
A |
15: 91,722,596 (GRCm39) |
A9T |
possibly damaging |
Het |
| Snx11 |
C |
A |
11: 96,661,522 (GRCm39) |
W161L |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,929,068 (GRCm39) |
K533E |
possibly damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,512 (GRCm39) |
I282V |
probably benign |
Het |
| Speer4b |
A |
G |
5: 27,702,011 (GRCm39) |
S250P |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,041,061 (GRCm39) |
H1287L |
probably benign |
Het |
| Surf2 |
T |
C |
2: 26,809,767 (GRCm39) |
F239S |
probably damaging |
Het |
| Tada1 |
G |
A |
1: 166,214,319 (GRCm39) |
R106H |
possibly damaging |
Het |
| Tbc1d22a |
C |
A |
15: 86,235,852 (GRCm39) |
|
probably null |
Het |
| Tbcd |
A |
G |
11: 121,387,886 (GRCm39) |
Q339R |
probably benign |
Het |
| Tdrd7 |
A |
G |
4: 45,994,445 (GRCm39) |
H281R |
probably benign |
Het |
| Tomm5 |
A |
G |
4: 45,107,915 (GRCm39) |
|
probably null |
Het |
| Ttc7 |
T |
C |
17: 87,669,373 (GRCm39) |
|
probably null |
Het |
| Ulk1 |
A |
T |
5: 110,937,382 (GRCm39) |
F638Y |
probably damaging |
Het |
| Vps35l |
T |
A |
7: 118,409,195 (GRCm39) |
I612N |
probably damaging |
Het |
| Wdr93 |
C |
A |
7: 79,418,109 (GRCm39) |
D277E |
probably damaging |
Het |
| Znrf3 |
T |
C |
11: 5,231,477 (GRCm39) |
R583G |
probably damaging |
Het |
| Zscan29 |
T |
A |
2: 120,991,641 (GRCm39) |
I716F |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- TGCCCACTTTACAGACCAGAGAAGG -3'
(R):5'- GCTGCAAAATTCCACCTGCTATGTC -3'
Sequencing Primer
(F):5'- ATGCCTAGCGTGACACAG -3'
(R):5'- AAAATTCCACCTGCTATGTCCTCTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation