Incidental Mutation 'R6129:Pde8b'
| ID |
487590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde8b
|
| Ensembl Gene |
ENSMUSG00000021684 |
| Gene Name |
phosphodiesterase 8B |
| Synonyms |
B230331L10Rik, C030047E14Rik |
| MMRRC Submission |
044276-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R6129 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
95160962-95386844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95178467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 509
(A509V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022192]
[ENSMUST00000067082]
[ENSMUST00000159608]
[ENSMUST00000160957]
[ENSMUST00000162153]
[ENSMUST00000162292]
[ENSMUST00000162412]
[ENSMUST00000172104]
|
| AlphaFold |
E9Q4S1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022192
AA Change: A559V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022192
Gene: ENSMUSG00000021684
AA Change: A559V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDE8
|
1 |
52 |
2.2e-39 |
PFAM |
|
low complexity region
|
75 |
98 |
N/A |
INTRINSIC |
|
Pfam:Response_reg
|
134 |
252 |
2.9e-15 |
PFAM |
|
Blast:HDc
|
420 |
481 |
1e-20 |
BLAST |
|
HDc
|
565 |
748 |
3.01e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067082
AA Change: A586V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070465
Gene: ENSMUSG00000021684
AA Change: A586V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDE8
|
1 |
47 |
1.4e-32 |
PFAM |
|
low complexity region
|
75 |
98 |
N/A |
INTRINSIC |
|
Blast:REC
|
112 |
235 |
6e-45 |
BLAST |
|
PAS
|
249 |
316 |
3.59e-3 |
SMART |
|
Blast:HDc
|
447 |
508 |
1e-20 |
BLAST |
|
HDc
|
592 |
775 |
3.01e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159608
AA Change: A559V
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125191
Gene: ENSMUSG00000021684
AA Change: A559V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDE8
|
1 |
52 |
1.7e-39 |
PFAM |
|
low complexity region
|
75 |
98 |
N/A |
INTRINSIC |
|
Pfam:Response_reg
|
134 |
252 |
2.1e-15 |
PFAM |
|
Blast:HDc
|
420 |
481 |
1e-20 |
BLAST |
|
HDc
|
565 |
666 |
9.37e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160412
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160957
|
| SMART Domains |
Protein: ENSMUSP00000125115
Gene: ENSMUSG00000021684
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
Pfam:Response_reg
|
30 |
148 |
5.7e-16 |
PFAM |
|
Blast:PAS
|
165 |
188 |
1e-7 |
BLAST |
|
Blast:HDc
|
266 |
327 |
1e-21 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162153
AA Change: A501V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124704
Gene: ENSMUSG00000021684
AA Change: A501V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Response_reg
|
29 |
147 |
2.6e-15 |
PFAM |
|
PAS
|
164 |
231 |
3.59e-3 |
SMART |
|
Blast:HDc
|
362 |
423 |
1e-20 |
BLAST |
|
HDc
|
507 |
690 |
3.01e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162292
AA Change: A509V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124068
Gene: ENSMUSG00000021684
AA Change: A509V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDE8
|
1 |
52 |
2.1e-39 |
PFAM |
|
low complexity region
|
75 |
98 |
N/A |
INTRINSIC |
|
Pfam:Response_reg
|
134 |
252 |
2.6e-15 |
PFAM |
|
Blast:HDc
|
370 |
431 |
1e-20 |
BLAST |
|
HDc
|
515 |
698 |
3.01e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162412
AA Change: A451V
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124409
Gene: ENSMUSG00000021684
AA Change: A451V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Response_reg
|
29 |
147 |
2.3e-15 |
PFAM |
|
PAS
|
164 |
231 |
3.59e-3 |
SMART |
|
Blast:HDc
|
312 |
373 |
1e-20 |
BLAST |
|
HDc
|
457 |
640 |
3.01e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172104
AA Change: A551V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128987
Gene: ENSMUSG00000021684
AA Change: A551V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDE8
|
1 |
52 |
2.2e-39 |
PFAM |
|
low complexity region
|
75 |
98 |
N/A |
INTRINSIC |
|
Pfam:Response_reg
|
134 |
252 |
2.8e-15 |
PFAM |
|
PAS
|
269 |
336 |
3.59e-3 |
SMART |
|
HDc
|
557 |
740 |
3.01e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162882
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased uring corticosterone, decreased serum adrenocorticotropin and decreased sensitivity to a PDE8-selective inhibitor. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
T |
A |
11: 69,789,137 (GRCm39) |
Y354F |
probably damaging |
Het |
| Aatk |
C |
T |
11: 119,912,359 (GRCm39) |
G29S |
probably damaging |
Het |
| Acsm2 |
G |
A |
7: 119,190,470 (GRCm39) |
|
probably null |
Het |
| Adgrl1 |
A |
G |
8: 84,645,616 (GRCm39) |
N80D |
probably damaging |
Het |
| Ankrd34a |
T |
A |
3: 96,505,274 (GRCm39) |
Y159* |
probably null |
Het |
| Bcl2l2 |
G |
A |
14: 55,122,202 (GRCm39) |
V122M |
possibly damaging |
Het |
| Brms1l |
A |
G |
12: 55,914,970 (GRCm39) |
H293R |
probably benign |
Het |
| Ccn1 |
T |
C |
3: 145,354,986 (GRCm39) |
I90V |
possibly damaging |
Het |
| Clec4b1 |
A |
G |
6: 123,045,461 (GRCm39) |
T94A |
possibly damaging |
Het |
| Crim1 |
A |
G |
17: 78,588,738 (GRCm39) |
D271G |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,387,127 (GRCm39) |
G2141S |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,505,340 (GRCm39) |
Y2156* |
probably null |
Het |
| Ctnnal1 |
C |
A |
4: 56,829,573 (GRCm39) |
A419S |
possibly damaging |
Het |
| Cyp27a1 |
G |
A |
1: 74,774,851 (GRCm39) |
R264H |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dsc2 |
T |
A |
18: 20,178,487 (GRCm39) |
T306S |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ermp1 |
A |
T |
19: 29,600,609 (GRCm39) |
Y586N |
possibly damaging |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm5114 |
C |
T |
7: 39,058,024 (GRCm39) |
A532T |
possibly damaging |
Het |
| Gm5431 |
A |
G |
11: 48,780,418 (GRCm39) |
L168P |
probably damaging |
Het |
| Hao2 |
T |
C |
3: 98,787,842 (GRCm39) |
T196A |
probably benign |
Het |
| Hdac9 |
A |
C |
12: 34,337,474 (GRCm39) |
L669R |
probably damaging |
Het |
| Hps5 |
A |
G |
7: 46,421,198 (GRCm39) |
V755A |
probably benign |
Het |
| Jag2 |
G |
T |
12: 112,883,969 (GRCm39) |
Y203* |
probably null |
Het |
| Lrrn3 |
G |
A |
12: 41,503,787 (GRCm39) |
Q177* |
probably null |
Het |
| Me1 |
A |
T |
9: 86,533,009 (GRCm39) |
V151E |
probably damaging |
Het |
| Mkx |
A |
G |
18: 6,992,888 (GRCm39) |
V132A |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,522,836 (GRCm39) |
S643P |
probably benign |
Het |
| Mysm1 |
C |
A |
4: 94,856,192 (GRCm39) |
R135L |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,011,483 (GRCm39) |
F4L |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,542,567 (GRCm39) |
C1773* |
probably null |
Het |
| Pcbp3 |
T |
C |
10: 76,599,182 (GRCm39) |
E318G |
probably damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,410,912 (GRCm39) |
K984E |
probably damaging |
Het |
| Pcna-ps2 |
A |
G |
19: 9,261,379 (GRCm39) |
N213D |
possibly damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Phf7 |
A |
G |
14: 30,962,820 (GRCm39) |
Y137H |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,818,543 (GRCm39) |
V1315A |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,955,135 (GRCm39) |
C571R |
probably damaging |
Het |
| Ppp1r12b |
C |
T |
1: 134,819,990 (GRCm39) |
W251* |
probably null |
Het |
| Prps1l1 |
A |
G |
12: 35,035,329 (GRCm39) |
E148G |
probably damaging |
Het |
| Robo1 |
A |
T |
16: 72,809,956 (GRCm39) |
M1235L |
probably benign |
Het |
| Robo3 |
A |
G |
9: 37,334,589 (GRCm39) |
Y592H |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Rufy1 |
A |
T |
11: 50,308,075 (GRCm39) |
L259Q |
probably damaging |
Het |
| Rusc2 |
T |
C |
4: 43,424,271 (GRCm39) |
F1112S |
probably damaging |
Het |
| Sap130 |
T |
C |
18: 31,815,144 (GRCm39) |
V622A |
possibly damaging |
Het |
| Sptbn4 |
C |
A |
7: 27,059,513 (GRCm39) |
C1124F |
probably damaging |
Het |
| Stk10 |
T |
A |
11: 32,565,871 (GRCm39) |
C872S |
probably damaging |
Het |
| Tex15 |
A |
T |
8: 34,064,158 (GRCm39) |
N1196I |
possibly damaging |
Het |
| Tnxa |
A |
G |
17: 35,019,262 (GRCm39) |
|
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zscan4b |
T |
A |
7: 10,635,815 (GRCm39) |
T171S |
probably benign |
Het |
|
| Other mutations in Pde8b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Pde8b
|
APN |
13 |
95,170,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01517:Pde8b
|
APN |
13 |
95,237,395 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01736:Pde8b
|
APN |
13 |
95,166,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01756:Pde8b
|
APN |
13 |
95,182,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01867:Pde8b
|
APN |
13 |
95,237,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01939:Pde8b
|
APN |
13 |
95,232,232 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02026:Pde8b
|
APN |
13 |
95,170,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02685:Pde8b
|
APN |
13 |
95,162,628 (GRCm39) |
makesense |
probably null |
|
|
IGL02830:Pde8b
|
APN |
13 |
95,189,409 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02966:Pde8b
|
APN |
13 |
95,232,156 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03003:Pde8b
|
APN |
13 |
95,178,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03064:Pde8b
|
APN |
13 |
95,182,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03349:Pde8b
|
APN |
13 |
95,179,551 (GRCm39) |
splice site |
probably benign |
|
|
R0356:Pde8b
|
UTSW |
13 |
95,182,962 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0464:Pde8b
|
UTSW |
13 |
95,241,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0711:Pde8b
|
UTSW |
13 |
95,244,325 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1436:Pde8b
|
UTSW |
13 |
95,162,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1467:Pde8b
|
UTSW |
13 |
95,170,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1467:Pde8b
|
UTSW |
13 |
95,170,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1494:Pde8b
|
UTSW |
13 |
95,184,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1546:Pde8b
|
UTSW |
13 |
95,182,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1699:Pde8b
|
UTSW |
13 |
95,169,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1795:Pde8b
|
UTSW |
13 |
95,178,527 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1879:Pde8b
|
UTSW |
13 |
95,221,723 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2184:Pde8b
|
UTSW |
13 |
95,162,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2223:Pde8b
|
UTSW |
13 |
95,179,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2892:Pde8b
|
UTSW |
13 |
95,170,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3034:Pde8b
|
UTSW |
13 |
95,359,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4204:Pde8b
|
UTSW |
13 |
95,359,053 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4206:Pde8b
|
UTSW |
13 |
95,359,053 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4623:Pde8b
|
UTSW |
13 |
95,178,447 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4711:Pde8b
|
UTSW |
13 |
95,166,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5133:Pde8b
|
UTSW |
13 |
95,223,250 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5134:Pde8b
|
UTSW |
13 |
95,223,250 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5314:Pde8b
|
UTSW |
13 |
95,223,361 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5342:Pde8b
|
UTSW |
13 |
95,178,498 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5376:Pde8b
|
UTSW |
13 |
95,162,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5806:Pde8b
|
UTSW |
13 |
95,178,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5830:Pde8b
|
UTSW |
13 |
95,178,398 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6021:Pde8b
|
UTSW |
13 |
95,162,670 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6035:Pde8b
|
UTSW |
13 |
95,164,105 (GRCm39) |
intron |
probably benign |
|
|
R6035:Pde8b
|
UTSW |
13 |
95,164,105 (GRCm39) |
intron |
probably benign |
|
|
R6181:Pde8b
|
UTSW |
13 |
95,223,316 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6313:Pde8b
|
UTSW |
13 |
95,178,508 (GRCm39) |
nonsense |
probably null |
|
|
R6849:Pde8b
|
UTSW |
13 |
95,184,307 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6914:Pde8b
|
UTSW |
13 |
95,223,352 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6999:Pde8b
|
UTSW |
13 |
95,223,342 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7149:Pde8b
|
UTSW |
13 |
95,223,349 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7275:Pde8b
|
UTSW |
13 |
95,179,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7483:Pde8b
|
UTSW |
13 |
95,164,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Pde8b
|
UTSW |
13 |
95,223,258 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7790:Pde8b
|
UTSW |
13 |
95,170,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7802:Pde8b
|
UTSW |
13 |
95,237,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7852:Pde8b
|
UTSW |
13 |
95,244,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7872:Pde8b
|
UTSW |
13 |
95,223,347 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7897:Pde8b
|
UTSW |
13 |
95,244,202 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8144:Pde8b
|
UTSW |
13 |
95,359,278 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8792:Pde8b
|
UTSW |
13 |
95,179,534 (GRCm39) |
missense |
probably benign |
|
|
R8850:Pde8b
|
UTSW |
13 |
95,226,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8905:Pde8b
|
UTSW |
13 |
95,182,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9252:Pde8b
|
UTSW |
13 |
95,169,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9256:Pde8b
|
UTSW |
13 |
95,164,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9582:Pde8b
|
UTSW |
13 |
95,169,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAAGCCGTCTTGTCAAATTG -3'
(R):5'- GTTCTCTACTGCCATTAAAGAAAGCAC -3'
Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- GCACTTTCTGGGCCACTGATG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation