Incidental Mutation 'R2936:Pde4b'
| ID |
255018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4b
|
| Ensembl Gene |
ENSMUSG00000028525 |
| Gene Name |
phosphodiesterase 4B, cAMP specific |
| Synonyms |
Dpde4, dunce |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.752)
|
| Stock # |
R2936 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
101944740-102464456 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 102458742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 466
(A466V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102524
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030251]
[ENSMUST00000097949]
[ENSMUST00000097950]
[ENSMUST00000106901]
[ENSMUST00000106904]
[ENSMUST00000106908]
[ENSMUST00000106911]
|
| AlphaFold |
B1AWC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030251
AA Change: A214V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030251
Gene: ENSMUSG00000028525
AA Change: A214V
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
151 |
326 |
2.35e-5 |
SMART |
|
low complexity region
|
433 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097949
AA Change: A233V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095561
Gene: ENSMUSG00000028525
AA Change: A233V
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
170 |
345 |
2.35e-5 |
SMART |
|
low complexity region
|
452 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097950
AA Change: A294V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095562
Gene: ENSMUSG00000028525
AA Change: A294V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
24 |
N/A |
INTRINSIC |
|
HDc
|
231 |
406 |
2.35e-5 |
SMART |
|
low complexity region
|
513 |
526 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106901
AA Change: A233V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102514
Gene: ENSMUSG00000028525
AA Change: A233V
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
170 |
345 |
2.35e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106904
AA Change: A389V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102517
Gene: ENSMUSG00000028525
AA Change: A389V
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
326 |
501 |
2.35e-5 |
SMART |
|
low complexity region
|
608 |
621 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106908
AA Change: A451V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102521
Gene: ENSMUSG00000028525
AA Change: A451V
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
388 |
563 |
2.35e-5 |
SMART |
|
low complexity region
|
670 |
683 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106911
AA Change: A466V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102524
Gene: ENSMUSG00000028525
AA Change: A466V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
83 |
N/A |
INTRINSIC |
|
HDc
|
403 |
578 |
2.35e-5 |
SMART |
|
low complexity region
|
685 |
698 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9335 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the type IV, cyclic AMP (cAMP)-specific, cyclic nucleotide phosphodiesterase (PDE) family. The encoded protein regulates the cellular concentrations of cyclic nucleotides and thereby play a role in signal transduction. Altered activity of this protein has been associated with schizophrenia and bipolar affective disorder. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene produce significantly less TNF-alpha in response to lipopolysaccharide stimulation. One mutation resulted in brain and spinal cord vacuoles. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
A |
T |
18: 70,601,519 (GRCm39) |
M121K |
probably damaging |
Het |
| Cacybp |
A |
T |
1: 160,035,947 (GRCm39) |
|
probably null |
Het |
| Cd6 |
T |
C |
19: 10,773,686 (GRCm39) |
|
probably null |
Het |
| Cep162 |
T |
C |
9: 87,109,467 (GRCm39) |
T379A |
probably benign |
Het |
| Gaa |
T |
C |
11: 119,174,550 (GRCm39) |
V799A |
probably benign |
Het |
| Gm16503 |
A |
G |
4: 147,625,704 (GRCm39) |
D66G |
unknown |
Het |
| Hspa9 |
T |
C |
18: 35,081,067 (GRCm39) |
T205A |
probably damaging |
Het |
| Ihh |
A |
G |
1: 74,985,705 (GRCm39) |
I260T |
probably damaging |
Het |
| Jcad |
T |
A |
18: 4,675,153 (GRCm39) |
Y972N |
probably benign |
Het |
| Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
| Mmp12 |
A |
G |
9: 7,357,819 (GRCm39) |
Q341R |
probably benign |
Het |
| Nup155 |
T |
C |
15: 8,172,533 (GRCm39) |
S840P |
possibly damaging |
Het |
| Or4l15 |
A |
T |
14: 50,197,611 (GRCm39) |
V306E |
probably benign |
Het |
| Pde5a |
A |
G |
3: 122,587,968 (GRCm39) |
E378G |
probably damaging |
Het |
| Rad54l |
T |
C |
4: 115,980,076 (GRCm39) |
|
probably benign |
Het |
| Stbd1 |
C |
T |
5: 92,751,119 (GRCm39) |
P51L |
possibly damaging |
Het |
| Tent4a |
G |
A |
13: 69,650,446 (GRCm39) |
T621I |
possibly damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,887,357 (GRCm39) |
F56S |
probably damaging |
Het |
| Tnr |
A |
C |
1: 159,715,932 (GRCm39) |
Y898S |
probably damaging |
Het |
| Trav6n-6 |
A |
G |
14: 53,370,341 (GRCm39) |
T31A |
probably benign |
Het |
|
| Other mutations in Pde4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01095:Pde4b
|
APN |
4 |
102,363,241 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01146:Pde4b
|
APN |
4 |
102,112,460 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01377:Pde4b
|
APN |
4 |
102,344,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01549:Pde4b
|
APN |
4 |
102,462,265 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01739:Pde4b
|
APN |
4 |
102,458,832 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01791:Pde4b
|
APN |
4 |
102,448,127 (GRCm39) |
splice site |
probably benign |
|
|
IGL02211:Pde4b
|
APN |
4 |
102,448,019 (GRCm39) |
splice site |
probably benign |
|
|
IGL02578:Pde4b
|
APN |
4 |
102,112,494 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02878:Pde4b
|
APN |
4 |
102,458,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4458001:Pde4b
|
UTSW |
4 |
102,459,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4618001:Pde4b
|
UTSW |
4 |
102,460,009 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0102:Pde4b
|
UTSW |
4 |
102,447,375 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0230:Pde4b
|
UTSW |
4 |
102,454,707 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0530:Pde4b
|
UTSW |
4 |
102,459,848 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0704:Pde4b
|
UTSW |
4 |
102,344,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1115:Pde4b
|
UTSW |
4 |
102,399,352 (GRCm39) |
intron |
probably benign |
|
|
R1450:Pde4b
|
UTSW |
4 |
102,458,832 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1457:Pde4b
|
UTSW |
4 |
102,462,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1568:Pde4b
|
UTSW |
4 |
102,454,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1740:Pde4b
|
UTSW |
4 |
102,344,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Pde4b
|
UTSW |
4 |
102,462,457 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1960:Pde4b
|
UTSW |
4 |
102,454,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1961:Pde4b
|
UTSW |
4 |
102,454,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2033:Pde4b
|
UTSW |
4 |
102,462,492 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2210:Pde4b
|
UTSW |
4 |
102,454,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2848:Pde4b
|
UTSW |
4 |
102,458,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3195:Pde4b
|
UTSW |
4 |
102,456,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3196:Pde4b
|
UTSW |
4 |
102,456,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3695:Pde4b
|
UTSW |
4 |
102,458,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3699:Pde4b
|
UTSW |
4 |
102,458,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4014:Pde4b
|
UTSW |
4 |
102,412,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4627:Pde4b
|
UTSW |
4 |
102,458,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4852:Pde4b
|
UTSW |
4 |
102,454,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5055:Pde4b
|
UTSW |
4 |
102,052,311 (GRCm39) |
intron |
probably benign |
|
|
R5109:Pde4b
|
UTSW |
4 |
102,458,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5319:Pde4b
|
UTSW |
4 |
102,278,985 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5476:Pde4b
|
UTSW |
4 |
102,459,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5576:Pde4b
|
UTSW |
4 |
102,287,359 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6019:Pde4b
|
UTSW |
4 |
102,427,966 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6151:Pde4b
|
UTSW |
4 |
102,458,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6540:Pde4b
|
UTSW |
4 |
102,459,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6573:Pde4b
|
UTSW |
4 |
102,287,359 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6662:Pde4b
|
UTSW |
4 |
102,459,095 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6751:Pde4b
|
UTSW |
4 |
102,459,868 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7066:Pde4b
|
UTSW |
4 |
102,460,003 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7092:Pde4b
|
UTSW |
4 |
102,459,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7461:Pde4b
|
UTSW |
4 |
102,112,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7613:Pde4b
|
UTSW |
4 |
102,112,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8068:Pde4b
|
UTSW |
4 |
102,453,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8296:Pde4b
|
UTSW |
4 |
102,459,983 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8732:Pde4b
|
UTSW |
4 |
102,412,822 (GRCm39) |
missense |
probably null |
0.00 |
|
R9070:Pde4b
|
UTSW |
4 |
102,458,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9111:Pde4b
|
UTSW |
4 |
102,454,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9114:Pde4b
|
UTSW |
4 |
102,459,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9295:Pde4b
|
UTSW |
4 |
102,112,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9384:Pde4b
|
UTSW |
4 |
102,112,448 (GRCm39) |
missense |
probably benign |
|
|
R9516:Pde4b
|
UTSW |
4 |
102,462,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAATTGTCAGAGGTTGGGG -3'
(R):5'- TGCCAACACCTTGAGCAAAG -3'
Sequencing Primer
(F):5'- CATTTGATAACGCATCTGTGTTTTC -3'
(R):5'- CCTTGAGCAAAGACAGAATTAAAAC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation