Incidental Mutation 'IGL01517:Pde8b'
| ID |
90451 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pde8b
|
| Ensembl Gene |
ENSMUSG00000021684 |
| Gene Name |
phosphodiesterase 8B |
| Synonyms |
B230331L10Rik, C030047E14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
IGL01517
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
95160962-95386844 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 95237395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022192]
[ENSMUST00000067082]
[ENSMUST00000159598]
[ENSMUST00000159608]
[ENSMUST00000160957]
[ENSMUST00000162153]
[ENSMUST00000162292]
[ENSMUST00000172104]
[ENSMUST00000162412]
|
| AlphaFold |
E9Q4S1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022192
|
| SMART Domains |
Protein: ENSMUSP00000022192
Gene: ENSMUSG00000021684
| 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 null
Transcript: ENSMUST00000067082
|
| SMART Domains |
Protein: ENSMUSP00000070465
Gene: ENSMUSG00000021684
| 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 benign
Transcript: ENSMUST00000159598
|
| SMART Domains |
Protein: ENSMUSP00000124447
Gene: ENSMUSG00000021684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Response_reg
|
10 |
101 |
3.6e-17 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159608
|
| SMART Domains |
Protein: ENSMUSP00000125191
Gene: ENSMUSG00000021684
| 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 |
probably null
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 null
Transcript: ENSMUST00000162153
|
| SMART Domains |
Protein: ENSMUSP00000124704
Gene: ENSMUSG00000021684
| 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 null
Transcript: ENSMUST00000162292
|
| SMART Domains |
Protein: ENSMUSP00000124068
Gene: ENSMUSG00000021684
| 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 |
noncoding transcript
Transcript: ENSMUST00000162328
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000172104
|
| SMART Domains |
Protein: ENSMUSP00000128987
Gene: ENSMUSG00000021684
| 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 |
probably null
Transcript: ENSMUST00000162412
|
| SMART Domains |
Protein: ENSMUSP00000124409
Gene: ENSMUSG00000021684
| 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 |
noncoding transcript
Transcript: ENSMUST00000162716
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
A |
T |
13: 104,526,700 (GRCm39) |
|
probably benign |
Het |
| Arpc1b |
A |
G |
5: 145,064,679 (GRCm39) |
|
probably benign |
Het |
| Ccdc54 |
G |
A |
16: 50,410,280 (GRCm39) |
L329F |
possibly damaging |
Het |
| Cdc42bpg |
G |
A |
19: 6,368,467 (GRCm39) |
R1055H |
probably damaging |
Het |
| Cylc1 |
A |
G |
X: 110,162,799 (GRCm39) |
T29A |
possibly damaging |
Het |
| Ddx50 |
T |
C |
10: 62,482,911 (GRCm39) |
T53A |
probably benign |
Het |
| Dmap1 |
G |
A |
4: 117,533,206 (GRCm39) |
R283C |
probably damaging |
Het |
| Extl3 |
A |
T |
14: 65,314,156 (GRCm39) |
L342H |
probably damaging |
Het |
| Gjb3 |
A |
C |
4: 127,219,914 (GRCm39) |
I206S |
probably damaging |
Het |
| Gphn |
T |
A |
12: 78,423,148 (GRCm39) |
I53K |
probably damaging |
Het |
| Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
| Inpp5b |
T |
A |
4: 124,676,229 (GRCm39) |
C362S |
probably benign |
Het |
| Iqgap3 |
C |
A |
3: 88,016,703 (GRCm39) |
Q1062K |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,412,089 (GRCm39) |
|
probably benign |
Het |
| Ltbp3 |
A |
G |
19: 5,807,760 (GRCm39) |
D1167G |
possibly damaging |
Het |
| Mpo |
A |
G |
11: 87,686,647 (GRCm39) |
N65D |
possibly damaging |
Het |
| Mrpl2 |
A |
G |
17: 46,960,909 (GRCm39) |
R268G |
probably damaging |
Het |
| Nfkbia |
C |
T |
12: 55,537,430 (GRCm39) |
A220T |
probably damaging |
Het |
| Nlrc3 |
T |
A |
16: 3,765,351 (GRCm39) |
I1091F |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,045,971 (GRCm39) |
S1674R |
probably benign |
Het |
| Or10h28 |
T |
A |
17: 33,488,629 (GRCm39) |
N310K |
probably benign |
Het |
| Or14a257 |
T |
C |
7: 86,138,765 (GRCm39) |
|
probably benign |
Het |
| Pla2r1 |
A |
G |
2: 60,334,597 (GRCm39) |
Y392H |
probably damaging |
Het |
| Plekhm1 |
A |
T |
11: 103,285,609 (GRCm39) |
N275K |
possibly damaging |
Het |
| Prdm16 |
T |
C |
4: 154,412,882 (GRCm39) |
H1041R |
probably damaging |
Het |
| Rapsn |
C |
A |
2: 90,866,963 (GRCm39) |
N88K |
probably damaging |
Het |
| Rasef |
T |
A |
4: 73,688,059 (GRCm39) |
Q31H |
probably benign |
Het |
| Rpl28-ps4 |
T |
C |
6: 117,190,813 (GRCm39) |
|
noncoding transcript |
Het |
| Trpc7 |
T |
C |
13: 57,008,878 (GRCm39) |
Y263C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,577,940 (GRCm39) |
T24318A |
probably damaging |
Het |
| Vmn1r35 |
T |
C |
6: 66,656,434 (GRCm39) |
T79A |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,225 (GRCm39) |
S200T |
probably benign |
Het |
| Wnt9b |
A |
G |
11: 103,621,907 (GRCm39) |
V250A |
probably benign |
Het |
| Zyg11a |
T |
A |
4: 108,058,391 (GRCm39) |
K383M |
probably null |
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 |
|
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 |
|
|
R6129:Pde8b
|
UTSW |
13 |
95,178,467 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation