Incidental Mutation 'PIT4696001:Pde4a'
| ID |
556798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4a
|
| Ensembl Gene |
ENSMUSG00000032177 |
| Gene Name |
phosphodiesterase 4A, cAMP specific |
| Synonyms |
D9Ertd60e, dunce, Dpde2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.212)
|
| Stock # |
PIT4696001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21077010-21124544 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21122297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 731
(M731K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003395]
[ENSMUST00000039413]
[ENSMUST00000115458]
|
| AlphaFold |
O89084 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003395
AA Change: M497K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000003395
Gene: ENSMUSG00000032177
AA Change: M497K
| 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: M731K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037025
Gene: ENSMUSG00000032177
AA Change: M731K
| 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: M674K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111118
Gene: ENSMUSG00000032177
AA Change: M674K
| 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: 93.5%
- 3x: 91.0%
- 10x: 86.2%
- 20x: 75.9%
|
| Validation Efficiency |
100% (57/57) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
G |
A |
7: 119,384,209 (GRCm39) |
|
probably null |
Het |
| Adam20 |
T |
A |
8: 41,247,985 (GRCm39) |
Y32N |
probably benign |
Het |
| Adm |
T |
C |
7: 110,227,496 (GRCm39) |
V4A |
probably benign |
Het |
| Anpep |
G |
A |
7: 79,489,212 (GRCm39) |
T320I |
possibly damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,672,341 (GRCm39) |
S1008G |
possibly damaging |
Het |
| B9d1 |
T |
A |
11: 61,396,069 (GRCm39) |
M12K |
possibly damaging |
Het |
| Cad |
T |
C |
5: 31,229,438 (GRCm39) |
L1435P |
probably damaging |
Het |
| Cat |
T |
C |
2: 103,302,157 (GRCm39) |
D180G |
probably damaging |
Het |
| Cntln |
C |
T |
4: 84,892,237 (GRCm39) |
T374M |
probably damaging |
Het |
| Cyp2a5 |
G |
A |
7: 26,540,404 (GRCm39) |
R339Q |
probably benign |
Het |
| Defa22 |
T |
C |
8: 21,652,352 (GRCm39) |
L6P |
probably damaging |
Het |
| Dr1 |
T |
A |
5: 108,417,604 (GRCm39) |
I50K |
probably damaging |
Het |
| Eln |
C |
T |
5: 134,766,032 (GRCm39) |
G57E |
unknown |
Het |
| Fat4 |
T |
C |
3: 38,943,153 (GRCm39) |
I682T |
probably benign |
Het |
| Fat4 |
C |
A |
3: 39,036,506 (GRCm39) |
A3386E |
probably damaging |
Het |
| Fcgr3 |
T |
A |
1: 170,885,319 (GRCm39) |
Y102F |
probably damaging |
Het |
| Gm5930 |
A |
T |
14: 44,573,993 (GRCm39) |
L115M |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,386,291 (GRCm39) |
V3748D |
probably damaging |
Het |
| Ino80d |
A |
G |
1: 63,125,145 (GRCm39) |
S106P |
probably benign |
Het |
| Kcns3 |
C |
T |
12: 11,142,749 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
T |
A |
7: 139,512,830 (GRCm39) |
L1527Q |
probably damaging |
Het |
| Lepr |
T |
G |
4: 101,637,180 (GRCm39) |
S690A |
probably benign |
Het |
| Lrfn5 |
T |
C |
12: 61,890,343 (GRCm39) |
F544S |
probably damaging |
Het |
| Mapkap1 |
C |
A |
2: 34,509,861 (GRCm39) |
H450Q |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,994,445 (GRCm39) |
T485A |
probably benign |
Het |
| Megf10 |
T |
C |
18: 57,410,760 (GRCm39) |
C690R |
probably damaging |
Het |
| Myo7a |
A |
G |
7: 97,712,806 (GRCm39) |
M1723T |
probably benign |
Het |
| Nrip3 |
A |
T |
7: 109,364,714 (GRCm39) |
C137* |
probably null |
Het |
| Or5w22 |
T |
A |
2: 87,363,124 (GRCm39) |
I249N |
probably damaging |
Het |
| Pebp1 |
A |
G |
5: 117,421,527 (GRCm39) |
L117P |
probably damaging |
Het |
| Phc2 |
T |
C |
4: 128,598,995 (GRCm39) |
Y51H |
probably damaging |
Het |
| Ppp2r5b |
A |
G |
19: 6,284,713 (GRCm39) |
F50S |
probably benign |
Het |
| Prpf4b |
A |
G |
13: 35,083,825 (GRCm39) |
S865G |
probably benign |
Het |
| Ptpn5 |
C |
T |
7: 46,738,354 (GRCm39) |
V243M |
probably benign |
Het |
| Rora |
T |
C |
9: 69,271,841 (GRCm39) |
L273P |
possibly damaging |
Het |
| Rtp4 |
T |
A |
16: 23,432,204 (GRCm39) |
S245R |
probably benign |
Het |
| Scgb2b20 |
C |
T |
7: 33,063,985 (GRCm39) |
G95D |
probably benign |
Het |
| Sec24b |
A |
G |
3: 129,788,040 (GRCm39) |
V820A |
probably benign |
Het |
| Sim2 |
A |
G |
16: 93,895,168 (GRCm39) |
D62G |
possibly damaging |
Het |
| Slc17a4 |
A |
T |
13: 24,084,497 (GRCm39) |
V429D |
probably benign |
Het |
| Sp2 |
T |
C |
11: 96,852,799 (GRCm39) |
T42A |
probably damaging |
Het |
| Spata3 |
G |
A |
1: 85,952,169 (GRCm39) |
R141Q |
unknown |
Het |
| Sptbn2 |
A |
T |
19: 4,795,605 (GRCm39) |
E1658D |
probably benign |
Het |
| Tcaf1 |
T |
C |
6: 42,655,473 (GRCm39) |
H501R |
probably benign |
Het |
| Tec |
G |
A |
5: 72,931,178 (GRCm39) |
T262M |
possibly damaging |
Het |
| Timm9 |
A |
T |
12: 71,172,305 (GRCm39) |
N22K |
possibly damaging |
Het |
| Tln1 |
C |
T |
4: 43,542,701 (GRCm39) |
|
probably null |
Het |
| Tmbim4 |
A |
G |
10: 120,053,529 (GRCm39) |
I109M |
probably benign |
Het |
| Tmc7 |
T |
C |
7: 118,163,566 (GRCm39) |
K110E |
probably benign |
Het |
| Tmem107 |
C |
T |
11: 68,963,399 (GRCm39) |
P136L |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,061,563 (GRCm39) |
|
probably null |
Het |
| Ubd |
A |
C |
17: 37,506,335 (GRCm39) |
T74P |
probably damaging |
Het |
| Vps11 |
A |
G |
9: 44,269,486 (GRCm39) |
V255A |
possibly damaging |
Het |
| Vsnl1 |
T |
C |
12: 11,376,448 (GRCm39) |
T146A |
probably benign |
Het |
| Wdr38 |
G |
T |
2: 38,889,984 (GRCm39) |
|
probably null |
Het |
| Yes1 |
T |
A |
5: 32,841,969 (GRCm39) |
S498T |
possibly damaging |
Het |
| Zc3h13 |
G |
A |
14: 75,569,323 (GRCm39) |
R1390H |
probably damaging |
Het |
| Zscan4b |
A |
G |
7: 10,635,949 (GRCm39) |
V126A |
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 |
|
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 |
|
R6792:Pde4a
|
UTSW |
9 |
21,103,886 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- TTGGTATCACAGTGCCATCC -3'
(R):5'- ATTGTCTCCTGATGTCCCCGAG -3'
Sequencing Primer
(F):5'- TATCACAGTGCCATCCGCCAG -3'
(R):5'- TCATGGCAGCCAGATGGTCTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation