Incidental Mutation 'R6792:Pde4a'
| ID |
532651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4a
|
| Ensembl Gene |
ENSMUSG00000032177 |
| Gene Name |
phosphodiesterase 4A, cAMP specific |
| Synonyms |
D9Ertd60e, dunce, Dpde2 |
| MMRRC Submission |
044905-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.212)
|
| Stock # |
R6792 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21077010-21124544 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21103886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 145
(K145R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003395]
[ENSMUST00000039413]
[ENSMUST00000115458]
|
| AlphaFold |
O89084 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003395
|
| SMART Domains |
Protein: ENSMUSP00000003395
Gene: ENSMUSG00000032177
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
87 |
N/A |
INTRINSIC |
|
HDc
|
182 |
357 |
7.12e-5 |
SMART |
|
low complexity region
|
462 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039413
AA Change: K202R
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000037025
Gene: ENSMUSG00000032177
AA Change: K202R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
321 |
N/A |
INTRINSIC |
|
HDc
|
416 |
591 |
7.12e-5 |
SMART |
|
low complexity region
|
696 |
709 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115458
AA Change: K145R
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000111118
Gene: ENSMUSG00000032177
AA Change: K145R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
264 |
N/A |
INTRINSIC |
|
HDc
|
359 |
534 |
7.12e-5 |
SMART |
|
low complexity region
|
639 |
652 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
| Validation Efficiency |
98% (51/52) |
| 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]
PHENOTYPE: Homozygous null mice have a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
A |
6: 128,523,292 (GRCm39) |
Q1215* |
probably null |
Het |
| Aldh2 |
C |
T |
5: 121,718,712 (GRCm39) |
G64R |
probably damaging |
Het |
| Atp11a |
G |
A |
8: 12,911,939 (GRCm39) |
|
probably benign |
Het |
| Bcl11b |
T |
C |
12: 107,955,993 (GRCm39) |
D52G |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,065,715 (GRCm39) |
|
probably null |
Het |
| Capg |
T |
A |
6: 72,532,537 (GRCm39) |
I34K |
possibly damaging |
Het |
| Card11 |
T |
A |
5: 140,899,064 (GRCm39) |
I37F |
probably damaging |
Het |
| Col27a1 |
G |
T |
4: 63,235,740 (GRCm39) |
R724L |
unknown |
Het |
| Cryl1 |
T |
C |
14: 57,620,224 (GRCm39) |
E47G |
probably damaging |
Het |
| Dgkb |
A |
T |
12: 38,150,424 (GRCm39) |
D70V |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,394,455 (GRCm39) |
E1949G |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,449,437 (GRCm39) |
V1387A |
probably damaging |
Het |
| Exph5 |
G |
A |
9: 53,286,617 (GRCm39) |
V1233M |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 16,286,940 (GRCm39) |
V861E |
probably damaging |
Het |
| Fgfr4 |
T |
G |
13: 55,304,711 (GRCm39) |
D184E |
possibly damaging |
Het |
| Fkbp14 |
G |
T |
6: 54,562,837 (GRCm39) |
S49* |
probably null |
Het |
| Ginm1 |
T |
C |
10: 7,649,747 (GRCm39) |
D182G |
probably damaging |
Het |
| Gk2 |
T |
C |
5: 97,603,588 (GRCm39) |
I417V |
probably benign |
Het |
| Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
| Malrd1 |
C |
T |
2: 16,155,567 (GRCm39) |
P1992L |
unknown |
Het |
| Mapk6 |
A |
T |
9: 75,302,830 (GRCm39) |
I221N |
probably damaging |
Het |
| Mup9 |
A |
G |
4: 60,377,354 (GRCm39) |
V65A |
possibly damaging |
Het |
| Myo15b |
A |
G |
11: 115,775,923 (GRCm39) |
D805G |
probably damaging |
Het |
| Nup50l |
T |
C |
6: 96,142,096 (GRCm39) |
E316G |
possibly damaging |
Het |
| Or52a5b |
A |
G |
7: 103,417,346 (GRCm39) |
I86T |
possibly damaging |
Het |
| Or8k35 |
A |
T |
2: 86,424,283 (GRCm39) |
D296E |
probably benign |
Het |
| Otof |
T |
A |
5: 30,532,978 (GRCm39) |
H1588L |
probably damaging |
Het |
| Pakap |
A |
G |
4: 57,855,880 (GRCm39) |
D403G |
possibly damaging |
Het |
| Pik3ap1 |
A |
T |
19: 41,310,065 (GRCm39) |
D418E |
probably benign |
Het |
| Pilrb2 |
C |
A |
5: 137,866,852 (GRCm39) |
R217M |
possibly damaging |
Het |
| Plcb2 |
T |
C |
2: 118,549,922 (GRCm39) |
N232S |
probably damaging |
Het |
| Ppargc1b |
C |
A |
18: 61,440,747 (GRCm39) |
G724W |
probably damaging |
Het |
| Ppp2r5d |
A |
G |
17: 47,015,782 (GRCm39) |
S2P |
probably benign |
Het |
| Prr5l |
T |
G |
2: 101,547,769 (GRCm39) |
N252T |
probably benign |
Het |
| Rbmyf5 |
A |
G |
Y: 3,298,867 (GRCm39) |
Y206H |
possibly damaging |
Homo |
| Rilp |
A |
T |
11: 75,403,601 (GRCm39) |
K348* |
probably null |
Het |
| Slc17a7 |
A |
G |
7: 44,824,299 (GRCm39) |
E505G |
possibly damaging |
Het |
| Slc6a21 |
T |
A |
7: 44,929,309 (GRCm39) |
M1K |
probably null |
Het |
| Sorcs1 |
T |
C |
19: 50,666,606 (GRCm39) |
T101A |
probably benign |
Het |
| Sorl1 |
A |
T |
9: 42,010,559 (GRCm39) |
V137E |
probably damaging |
Het |
| Stam2 |
T |
C |
2: 52,597,993 (GRCm39) |
I270V |
probably benign |
Het |
| Synj2 |
G |
A |
17: 6,040,565 (GRCm39) |
A214T |
probably benign |
Het |
| Tars3 |
G |
T |
7: 65,312,051 (GRCm39) |
C321F |
probably damaging |
Het |
| Tcea1 |
T |
A |
1: 4,962,268 (GRCm39) |
D229E |
probably benign |
Het |
| Tdrd9 |
C |
T |
12: 111,993,547 (GRCm39) |
R692W |
probably benign |
Het |
| Tkfc |
T |
C |
19: 10,571,888 (GRCm39) |
T383A |
probably benign |
Het |
| Traf1 |
T |
C |
2: 34,846,287 (GRCm39) |
D43G |
probably benign |
Het |
| Tubgcp6 |
C |
T |
15: 89,007,080 (GRCm39) |
|
probably benign |
Het |
| Vit |
A |
T |
17: 78,886,828 (GRCm39) |
Y152F |
probably damaging |
Het |
| Vmn1r66 |
A |
T |
7: 10,008,412 (GRCm39) |
M207K |
possibly damaging |
Het |
|
| Other mutations in Pde4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Pde4a
|
APN |
9 |
21,122,357 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01330:Pde4a
|
APN |
9 |
21,103,734 (GRCm39) |
splice site |
probably benign |
|
|
IGL01403:Pde4a
|
APN |
9 |
21,116,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01610:Pde4a
|
APN |
9 |
21,122,646 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02010:Pde4a
|
APN |
9 |
21,114,850 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02296:Pde4a
|
APN |
9 |
21,103,865 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02637:Pde4a
|
APN |
9 |
21,112,628 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4696001:Pde4a
|
UTSW |
9 |
21,122,297 (GRCm39) |
missense |
probably benign |
|
|
R0032:Pde4a
|
UTSW |
9 |
21,112,728 (GRCm39) |
splice site |
probably benign |
|
|
R0032:Pde4a
|
UTSW |
9 |
21,112,728 (GRCm39) |
splice site |
probably benign |
|
|
R0257:Pde4a
|
UTSW |
9 |
21,103,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Pde4a
|
UTSW |
9 |
21,115,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Pde4a
|
UTSW |
9 |
21,103,888 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1524:Pde4a
|
UTSW |
9 |
21,112,543 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1750:Pde4a
|
UTSW |
9 |
21,114,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2239:Pde4a
|
UTSW |
9 |
21,122,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2905:Pde4a
|
UTSW |
9 |
21,112,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2991:Pde4a
|
UTSW |
9 |
21,114,539 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3972:Pde4a
|
UTSW |
9 |
21,117,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4826:Pde4a
|
UTSW |
9 |
21,103,676 (GRCm39) |
splice site |
probably null |
|
|
R4922:Pde4a
|
UTSW |
9 |
21,122,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5195:Pde4a
|
UTSW |
9 |
21,115,629 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5208:Pde4a
|
UTSW |
9 |
21,114,854 (GRCm39) |
splice site |
probably null |
|
|
R5552:Pde4a
|
UTSW |
9 |
21,112,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5713:Pde4a
|
UTSW |
9 |
21,114,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6722:Pde4a
|
UTSW |
9 |
21,122,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6861:Pde4a
|
UTSW |
9 |
21,116,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6901:Pde4a
|
UTSW |
9 |
21,116,266 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7300:Pde4a
|
UTSW |
9 |
21,117,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Pde4a
|
UTSW |
9 |
21,077,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7798:Pde4a
|
UTSW |
9 |
21,109,959 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8073:Pde4a
|
UTSW |
9 |
21,122,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8133:Pde4a
|
UTSW |
9 |
21,102,673 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8167:Pde4a
|
UTSW |
9 |
21,117,469 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8297:Pde4a
|
UTSW |
9 |
21,077,404 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8348:Pde4a
|
UTSW |
9 |
21,117,534 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8448:Pde4a
|
UTSW |
9 |
21,117,534 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8853:Pde4a
|
UTSW |
9 |
21,106,119 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8953:Pde4a
|
UTSW |
9 |
21,122,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9167:Pde4a
|
UTSW |
9 |
21,102,798 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9492:Pde4a
|
UTSW |
9 |
21,106,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9686:Pde4a
|
UTSW |
9 |
21,117,562 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0027:Pde4a
|
UTSW |
9 |
21,109,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAAGACCTCATTGTGACCC -3'
(R):5'- GCGAGCTGAATCTGAACTCTG -3'
Sequencing Primer
(F):5'- AGACCTCATTGTGACCCCGTTTG -3'
(R):5'- AGCCTAGGTTGTCCTGAAAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation