Incidental Mutation 'IGL01312:Pde7b'
| ID |
73723 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pde7b
|
| Ensembl Gene |
ENSMUSG00000019990 |
| Gene Name |
phosphodiesterase 7B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01312
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
20273750-20600824 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 20311940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020165]
[ENSMUST00000164195]
[ENSMUST00000169016]
[ENSMUST00000169404]
[ENSMUST00000170265]
|
| AlphaFold |
Q9QXQ1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020165
|
| SMART Domains |
Protein: ENSMUSP00000020165
Gene: ENSMUSG00000019990
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
170 |
337 |
9.04e-7 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000164195
|
| SMART Domains |
Protein: ENSMUSP00000126913
Gene: ENSMUSG00000019990
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
222 |
389 |
9.04e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169016
|
| SMART Domains |
Protein: ENSMUSP00000130596
Gene: ENSMUSG00000019990
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169404
|
| SMART Domains |
Protein: ENSMUSP00000132378
Gene: ENSMUSG00000019990
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
222 |
389 |
9.04e-7 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170265
|
| SMART Domains |
Protein: ENSMUSP00000126324
Gene: ENSMUSG00000019990
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
|
HDc
|
183 |
350 |
9.04e-7 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a cAMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family.[provided by RefSeq, Apr 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankle2 |
G |
T |
5: 110,382,218 (GRCm39) |
V65L |
probably benign |
Het |
| C3 |
G |
A |
17: 57,532,993 (GRCm39) |
|
probably benign |
Het |
| Colgalt1 |
G |
A |
8: 72,075,420 (GRCm39) |
R442H |
probably damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,317,485 (GRCm39) |
M1V |
probably null |
Het |
| Etaa1 |
A |
G |
11: 17,895,909 (GRCm39) |
L736S |
probably damaging |
Het |
| Foxm1 |
T |
C |
6: 128,350,337 (GRCm39) |
F546S |
probably damaging |
Het |
| Fscn3 |
T |
C |
6: 28,434,469 (GRCm39) |
I348T |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,955,933 (GRCm39) |
D385E |
probably benign |
Het |
| Gcm2 |
T |
C |
13: 41,256,607 (GRCm39) |
T381A |
probably damaging |
Het |
| Nup153 |
T |
C |
13: 46,840,300 (GRCm39) |
T1103A |
probably benign |
Het |
| Or10ag59 |
A |
G |
2: 87,405,518 (GRCm39) |
Q30R |
probably damaging |
Het |
| Shld2 |
T |
C |
14: 33,990,150 (GRCm39) |
D252G |
possibly damaging |
Het |
| St7 |
T |
A |
6: 17,922,013 (GRCm39) |
I361N |
probably damaging |
Het |
| Stard5 |
C |
T |
7: 83,282,397 (GRCm39) |
P70L |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
| Tas2r134 |
T |
A |
2: 51,518,247 (GRCm39) |
L242H |
probably damaging |
Het |
| Tnrc6b |
G |
A |
15: 80,807,779 (GRCm39) |
R1577H |
probably damaging |
Het |
| Trappc11 |
C |
A |
8: 47,958,712 (GRCm39) |
A716S |
possibly damaging |
Het |
| Wdr35 |
C |
T |
12: 9,058,655 (GRCm39) |
T604M |
probably damaging |
Het |
| Zbtb24 |
T |
G |
10: 41,327,885 (GRCm39) |
I257S |
possibly damaging |
Het |
|
| Other mutations in Pde7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00901:Pde7b
|
APN |
10 |
20,494,875 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01728:Pde7b
|
APN |
10 |
20,310,210 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01868:Pde7b
|
APN |
10 |
20,282,911 (GRCm39) |
nonsense |
probably null |
|
|
PIT4431001:Pde7b
|
UTSW |
10 |
20,276,291 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0241:Pde7b
|
UTSW |
10 |
20,311,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Pde7b
|
UTSW |
10 |
20,311,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Pde7b
|
UTSW |
10 |
20,314,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Pde7b
|
UTSW |
10 |
20,294,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1518:Pde7b
|
UTSW |
10 |
20,423,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Pde7b
|
UTSW |
10 |
20,355,432 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1547:Pde7b
|
UTSW |
10 |
20,310,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1571:Pde7b
|
UTSW |
10 |
20,288,836 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1611:Pde7b
|
UTSW |
10 |
20,310,236 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1722:Pde7b
|
UTSW |
10 |
20,311,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2275:Pde7b
|
UTSW |
10 |
20,276,165 (GRCm39) |
makesense |
probably null |
|
|
R4622:Pde7b
|
UTSW |
10 |
20,294,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4666:Pde7b
|
UTSW |
10 |
20,314,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4757:Pde7b
|
UTSW |
10 |
20,423,688 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4823:Pde7b
|
UTSW |
10 |
20,314,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4889:Pde7b
|
UTSW |
10 |
20,423,823 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4910:Pde7b
|
UTSW |
10 |
20,600,480 (GRCm39) |
unclassified |
probably benign |
|
|
R4923:Pde7b
|
UTSW |
10 |
20,288,873 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5349:Pde7b
|
UTSW |
10 |
20,494,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6258:Pde7b
|
UTSW |
10 |
20,316,546 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6645:Pde7b
|
UTSW |
10 |
20,486,312 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7000:Pde7b
|
UTSW |
10 |
20,319,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7510:Pde7b
|
UTSW |
10 |
20,288,761 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7717:Pde7b
|
UTSW |
10 |
20,282,937 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7817:Pde7b
|
UTSW |
10 |
20,319,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Pde7b
|
UTSW |
10 |
20,423,639 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8837:Pde7b
|
UTSW |
10 |
20,314,469 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation