Incidental Mutation 'IGL01539:Pde1b'
ID |
90117 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pde1b
|
Ensembl Gene |
ENSMUSG00000022489 |
Gene Name |
phosphodiesterase 1B, Ca2+-calmodulin dependent |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01539
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
103411461-103438479 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 103433772 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153722
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023132]
[ENSMUST00000023133]
[ENSMUST00000226468]
[ENSMUST00000226493]
[ENSMUST00000227955]
|
AlphaFold |
Q01065 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023132
|
SMART Domains |
Protein: ENSMUSP00000023132 Gene: ENSMUSG00000022489
Domain | Start | End | E-Value | Type |
coiled coil region
|
38 |
60 |
N/A |
INTRINSIC |
Pfam:PDEase_I_N
|
76 |
136 |
1.2e-33 |
PFAM |
HDc
|
219 |
383 |
8.77e-5 |
SMART |
Blast:HDc
|
394 |
443 |
1e-20 |
BLAST |
low complexity region
|
467 |
478 |
N/A |
INTRINSIC |
low complexity region
|
511 |
527 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000023133
|
SMART Domains |
Protein: ENSMUSP00000023133 Gene: ENSMUSG00000022490
Domain | Start | End | E-Value | Type |
Pfam:DARPP-32
|
2 |
165 |
2.2e-43 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226468
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226493
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227925
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227955
|
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 belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] PHENOTYPE: Mice homozygous for disruptions in this gene display increased exploratory behavior. Learning deficits and hyperactivity are also observed in some situations. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Clca4b |
T |
A |
3: 144,631,918 (GRCm39) |
M196L |
probably benign |
Het |
Cyp4a14 |
T |
C |
4: 115,344,374 (GRCm39) |
N497S |
possibly damaging |
Het |
Eif3b |
T |
C |
5: 140,416,008 (GRCm39) |
|
probably benign |
Het |
Grin2c |
T |
C |
11: 115,140,932 (GRCm39) |
Q1062R |
probably benign |
Het |
Ina |
A |
G |
19: 47,003,903 (GRCm39) |
E237G |
probably damaging |
Het |
Lmx1b |
T |
C |
2: 33,529,510 (GRCm39) |
D83G |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,289,701 (GRCm39) |
|
probably benign |
Het |
Muc6 |
T |
A |
7: 141,236,306 (GRCm39) |
M406L |
probably benign |
Het |
Myo15b |
T |
C |
11: 115,754,299 (GRCm39) |
I933T |
probably benign |
Het |
Or4c121 |
A |
G |
2: 89,023,836 (GRCm39) |
F181L |
possibly damaging |
Het |
Or6c204 |
T |
C |
10: 129,022,804 (GRCm39) |
N162S |
probably benign |
Het |
Rab29 |
G |
A |
1: 131,798,445 (GRCm39) |
R75Q |
probably damaging |
Het |
Scn10a |
A |
T |
9: 119,467,764 (GRCm39) |
I792N |
probably damaging |
Het |
Serpinb6a |
A |
T |
13: 34,114,117 (GRCm39) |
V70D |
probably damaging |
Het |
Slco1a7 |
A |
G |
6: 141,673,333 (GRCm39) |
S402P |
possibly damaging |
Het |
Spart |
A |
G |
3: 55,024,723 (GRCm39) |
D106G |
possibly damaging |
Het |
Sucla2 |
A |
G |
14: 73,828,561 (GRCm39) |
E359G |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 178,016,488 (GRCm39) |
Y658C |
probably damaging |
Het |
Tenm2 |
T |
A |
11: 35,997,654 (GRCm39) |
T811S |
possibly damaging |
Het |
Trim66 |
C |
A |
7: 109,054,273 (GRCm39) |
M1312I |
probably benign |
Het |
Tspan18 |
A |
G |
2: 93,041,198 (GRCm39) |
S135P |
probably damaging |
Het |
Ube2j1 |
T |
C |
4: 33,043,993 (GRCm39) |
|
probably benign |
Het |
Ubr1 |
A |
C |
2: 120,756,494 (GRCm39) |
V711G |
possibly damaging |
Het |
Veph1 |
T |
C |
3: 66,065,496 (GRCm39) |
T524A |
probably benign |
Het |
Vmn1r222 |
A |
T |
13: 23,417,059 (GRCm39) |
F51L |
probably benign |
Het |
Vwf |
G |
T |
6: 125,567,225 (GRCm39) |
V338L |
possibly damaging |
Het |
Zfp770 |
G |
T |
2: 114,027,574 (GRCm39) |
A165E |
probably damaging |
Het |
|
Other mutations in Pde1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00227:Pde1b
|
APN |
15 |
103,435,107 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01988:Pde1b
|
APN |
15 |
103,433,283 (GRCm39) |
splice site |
probably null |
|
IGL02380:Pde1b
|
APN |
15 |
103,428,417 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02424:Pde1b
|
APN |
15 |
103,436,646 (GRCm39) |
splice site |
probably benign |
|
IGL02710:Pde1b
|
APN |
15 |
103,430,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R0111:Pde1b
|
UTSW |
15 |
103,411,940 (GRCm39) |
missense |
probably benign |
|
R1302:Pde1b
|
UTSW |
15 |
103,436,026 (GRCm39) |
missense |
probably benign |
0.12 |
R1312:Pde1b
|
UTSW |
15 |
103,434,700 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1449:Pde1b
|
UTSW |
15 |
103,433,470 (GRCm39) |
missense |
probably damaging |
0.99 |
R1631:Pde1b
|
UTSW |
15 |
103,430,099 (GRCm39) |
missense |
probably damaging |
0.97 |
R1848:Pde1b
|
UTSW |
15 |
103,433,767 (GRCm39) |
splice site |
probably null |
|
R4032:Pde1b
|
UTSW |
15 |
103,429,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R4896:Pde1b
|
UTSW |
15 |
103,429,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R4901:Pde1b
|
UTSW |
15 |
103,435,112 (GRCm39) |
missense |
probably null |
0.92 |
R5052:Pde1b
|
UTSW |
15 |
103,436,075 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5935:Pde1b
|
UTSW |
15 |
103,429,866 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6117:Pde1b
|
UTSW |
15 |
103,429,909 (GRCm39) |
missense |
probably damaging |
0.99 |
R7092:Pde1b
|
UTSW |
15 |
103,435,458 (GRCm39) |
missense |
probably benign |
0.02 |
R7116:Pde1b
|
UTSW |
15 |
103,436,745 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7270:Pde1b
|
UTSW |
15 |
103,430,082 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7359:Pde1b
|
UTSW |
15 |
103,429,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R7464:Pde1b
|
UTSW |
15 |
103,433,256 (GRCm39) |
missense |
probably benign |
0.05 |
R8058:Pde1b
|
UTSW |
15 |
103,433,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R8120:Pde1b
|
UTSW |
15 |
103,430,524 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8350:Pde1b
|
UTSW |
15 |
103,411,901 (GRCm39) |
start codon destroyed |
probably benign |
|
R8416:Pde1b
|
UTSW |
15 |
103,423,745 (GRCm39) |
start gained |
probably benign |
|
R8772:Pde1b
|
UTSW |
15 |
103,433,548 (GRCm39) |
splice site |
probably benign |
|
R8781:Pde1b
|
UTSW |
15 |
103,433,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R8993:Pde1b
|
UTSW |
15 |
103,429,852 (GRCm39) |
missense |
probably benign |
0.10 |
R9418:Pde1b
|
UTSW |
15 |
103,433,464 (GRCm39) |
missense |
probably damaging |
0.96 |
R9498:Pde1b
|
UTSW |
15 |
103,435,489 (GRCm39) |
missense |
probably benign |
0.10 |
R9709:Pde1b
|
UTSW |
15 |
103,411,985 (GRCm39) |
missense |
probably benign |
0.45 |
|
Posted On |
2013-12-03 |