Incidental Mutation 'R5195:Pde4a'
| ID |
400121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4a
|
| Ensembl Gene |
ENSMUSG00000032177 |
| Gene Name |
phosphodiesterase 4A, cAMP specific |
| Synonyms |
D9Ertd60e, dunce, Dpde2 |
| MMRRC Submission |
042771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.212)
|
| Stock # |
R5195 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21077010-21124544 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21115629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 445
(T445A)
|
| 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: T211A
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000003395
Gene: ENSMUSG00000032177
AA Change: T211A
| 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 |
possibly damaging
Transcript: ENSMUST00000039413
AA Change: T445A
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000037025
Gene: ENSMUSG00000032177
AA Change: T445A
| 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: T388A
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000111118
Gene: ENSMUSG00000032177
AA Change: T388A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131769
|
| Meta Mutation Damage Score |
0.7150 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (72/74) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apoo-ps |
T |
C |
13: 107,551,053 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgef40 |
T |
A |
14: 52,227,269 (GRCm39) |
S438T |
possibly damaging |
Het |
| Barhl2 |
A |
G |
5: 106,601,305 (GRCm39) |
L358P |
possibly damaging |
Het |
| Bicra |
G |
A |
7: 15,713,878 (GRCm39) |
P775S |
possibly damaging |
Het |
| Ccdc78 |
T |
A |
17: 26,008,962 (GRCm39) |
|
probably null |
Het |
| Ccnb1-ps |
T |
A |
7: 41,755,522 (GRCm39) |
|
noncoding transcript |
Het |
| Cct6a |
A |
T |
5: 129,871,718 (GRCm39) |
|
noncoding transcript |
Het |
| Cep120 |
T |
A |
18: 53,854,770 (GRCm39) |
H455L |
probably damaging |
Het |
| Cobl |
C |
T |
11: 12,203,565 (GRCm39) |
V964I |
probably benign |
Het |
| Cpt1a |
A |
T |
19: 3,433,800 (GRCm39) |
I761F |
possibly damaging |
Het |
| Crk |
T |
A |
11: 75,570,289 (GRCm39) |
Y14N |
probably damaging |
Het |
| Deup1 |
A |
T |
9: 15,486,487 (GRCm39) |
Y398N |
possibly damaging |
Het |
| Efcab15 |
T |
C |
11: 103,089,794 (GRCm39) |
Y381C |
probably damaging |
Het |
| Epha3 |
C |
T |
16: 63,366,510 (GRCm39) |
G980D |
possibly damaging |
Het |
| Fanca |
A |
G |
8: 124,030,684 (GRCm39) |
|
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,267,398 (GRCm39) |
D507V |
probably benign |
Het |
| Gtf2i |
A |
T |
5: 134,273,686 (GRCm39) |
L740* |
probably null |
Het |
| Hmgn2 |
C |
A |
4: 133,694,597 (GRCm39) |
A8S |
probably benign |
Het |
| Hook2 |
A |
T |
8: 85,721,405 (GRCm39) |
N252I |
probably damaging |
Het |
| Igkv19-93 |
T |
A |
6: 68,713,510 (GRCm39) |
T39S |
probably damaging |
Het |
| Inpp5j |
A |
C |
11: 3,449,889 (GRCm39) |
|
probably null |
Het |
| Insyn2a |
A |
T |
7: 134,486,145 (GRCm39) |
F469I |
probably damaging |
Het |
| Kbtbd3 |
G |
C |
9: 4,316,905 (GRCm39) |
E19Q |
possibly damaging |
Het |
| Kcns2 |
G |
A |
15: 34,839,677 (GRCm39) |
A347T |
possibly damaging |
Het |
| Klhl31 |
A |
G |
9: 77,557,572 (GRCm39) |
E96G |
possibly damaging |
Het |
| Kptn |
A |
G |
7: 15,857,028 (GRCm39) |
Y172C |
probably damaging |
Het |
| Krt86 |
T |
A |
15: 101,374,814 (GRCm39) |
M328K |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,071,795 (GRCm39) |
D894G |
probably benign |
Het |
| Lars2 |
T |
C |
9: 123,282,375 (GRCm39) |
V653A |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lhcgr |
A |
T |
17: 89,050,374 (GRCm39) |
V384D |
probably damaging |
Het |
| Malrd1 |
C |
T |
2: 16,155,621 (GRCm39) |
T2010M |
unknown |
Het |
| Maml2 |
T |
A |
9: 13,532,410 (GRCm39) |
N541K |
probably damaging |
Het |
| Med24 |
T |
C |
11: 98,601,107 (GRCm39) |
K585R |
possibly damaging |
Het |
| Muc20 |
G |
A |
16: 32,614,846 (GRCm39) |
S177L |
unknown |
Het |
| Mylk |
T |
A |
16: 34,799,585 (GRCm39) |
F1658L |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,951,676 (GRCm39) |
V4392I |
possibly damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,975 (GRCm39) |
S31P |
probably benign |
Het |
| Or11g2 |
T |
C |
14: 50,856,243 (GRCm39) |
L188P |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,528,288 (GRCm39) |
F1311I |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,274,974 (GRCm39) |
L521P |
probably damaging |
Het |
| Pgam5 |
A |
T |
5: 110,413,854 (GRCm39) |
L103* |
probably null |
Het |
| Pkd2 |
G |
A |
5: 104,634,547 (GRCm39) |
R526Q |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,634,905 (GRCm39) |
Y618C |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,677,450 (GRCm39) |
E43V |
probably damaging |
Het |
| Pramel5 |
T |
A |
4: 143,998,311 (GRCm39) |
M311L |
probably benign |
Het |
| Rbbp8 |
T |
C |
18: 11,855,208 (GRCm39) |
F478L |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryk |
T |
C |
9: 102,744,812 (GRCm39) |
V122A |
probably benign |
Het |
| Sik3 |
G |
T |
9: 46,120,142 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc35e4 |
T |
A |
11: 3,862,872 (GRCm39) |
I106F |
possibly damaging |
Het |
| Slc41a3 |
T |
C |
6: 90,610,653 (GRCm39) |
S172P |
probably damaging |
Het |
| Snrnp70 |
T |
A |
7: 45,044,134 (GRCm39) |
K32N |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 100,008,704 (GRCm39) |
Y1945H |
probably benign |
Het |
| St7 |
A |
G |
6: 17,743,636 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
C |
A |
14: 30,862,478 (GRCm39) |
|
probably benign |
Het |
| Taf13 |
G |
A |
3: 108,488,390 (GRCm39) |
R91Q |
probably damaging |
Het |
| Tmem200a |
T |
C |
10: 25,954,854 (GRCm39) |
|
probably benign |
Het |
| Tnc |
A |
T |
4: 63,885,489 (GRCm39) |
L1871Q |
probably damaging |
Het |
| Toe1 |
T |
C |
4: 116,661,852 (GRCm39) |
H439R |
probably damaging |
Het |
| Trpm1 |
T |
C |
7: 63,887,441 (GRCm39) |
V893A |
possibly damaging |
Het |
| Ubr3 |
G |
A |
2: 69,786,378 (GRCm39) |
A831T |
probably benign |
Het |
| Wdr89 |
C |
T |
12: 75,680,062 (GRCm39) |
R64Q |
probably benign |
Het |
| Zbed5 |
G |
T |
5: 129,931,019 (GRCm39) |
V323F |
probably benign |
Het |
| Zeb2 |
T |
C |
2: 44,891,647 (GRCm39) |
R287G |
probably 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 |
|
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'- GATGTGAGTGCCCGCCTC -3'
(R):5'- ACCTCCATTCAACCAGATGTT -3'
Sequencing Primer
(F):5'- CTGGTGTACAGCTCTCATAGAGATC -3'
(R):5'- CCAGATGTTGCTTCTAGGCCAAATG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation