Incidental Mutation 'IGL02424:Pde1b'
| ID |
292845 |
| 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 # |
IGL02424
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
103411461-103438479 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 103436646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023132]
[ENSMUST00000023133]
[ENSMUST00000226468]
[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 |
noncoding transcript
Transcript: ENSMUST00000227925
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227955
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228813
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
A |
G |
3: 137,880,466 (GRCm39) |
|
probably benign |
Het |
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Abl1 |
G |
A |
2: 31,691,144 (GRCm39) |
V888I |
probably benign |
Het |
| Adcy9 |
G |
T |
16: 4,106,461 (GRCm39) |
N884K |
probably damaging |
Het |
| Alyref |
T |
C |
11: 120,486,133 (GRCm39) |
N176D |
probably benign |
Het |
| Amtn |
T |
C |
5: 88,529,456 (GRCm39) |
|
probably benign |
Het |
| Baz1b |
T |
C |
5: 135,246,833 (GRCm39) |
Y761H |
probably damaging |
Het |
| Cckar |
T |
A |
5: 53,863,770 (GRCm39) |
T64S |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 16,142,340 (GRCm39) |
F1521S |
probably benign |
Het |
| Cyp11b1 |
T |
C |
15: 74,711,085 (GRCm39) |
T198A |
probably benign |
Het |
| Def8 |
G |
T |
8: 124,186,387 (GRCm39) |
L399F |
possibly damaging |
Het |
| Epha7 |
A |
T |
4: 28,948,790 (GRCm39) |
|
probably benign |
Het |
| Ets1 |
T |
A |
9: 32,665,589 (GRCm39) |
Y181* |
probably null |
Het |
| Fas |
A |
T |
19: 34,304,434 (GRCm39) |
M232L |
probably damaging |
Het |
| Fkbp10 |
T |
A |
11: 100,306,782 (GRCm39) |
V37E |
probably damaging |
Het |
| Galnt3 |
A |
G |
2: 65,926,132 (GRCm39) |
|
probably null |
Het |
| Gdap1 |
T |
C |
1: 17,231,402 (GRCm39) |
V249A |
probably damaging |
Het |
| Gm5356 |
T |
A |
8: 89,913,594 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7732 |
A |
G |
17: 21,349,709 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr3 |
G |
T |
4: 132,938,405 (GRCm39) |
A89E |
probably damaging |
Het |
| Kat2a |
A |
G |
11: 100,601,973 (GRCm39) |
|
probably null |
Het |
| Kit |
T |
G |
5: 75,799,766 (GRCm39) |
D499E |
probably benign |
Het |
| Kmt2a |
C |
T |
9: 44,735,932 (GRCm39) |
|
probably benign |
Het |
| Med12l |
T |
C |
3: 59,000,143 (GRCm39) |
L666P |
probably benign |
Het |
| Mmp2 |
T |
G |
8: 93,562,635 (GRCm39) |
C291G |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,154,203 (GRCm39) |
Y2303H |
probably damaging |
Het |
| Or14a259 |
C |
A |
7: 86,012,688 (GRCm39) |
V286L |
probably benign |
Het |
| Or1d2 |
T |
A |
11: 74,256,299 (GRCm39) |
M268K |
probably benign |
Het |
| Or1o2 |
T |
C |
17: 37,543,263 (GRCm39) |
|
probably benign |
Het |
| Prl7a2 |
A |
C |
13: 27,851,953 (GRCm39) |
C9G |
probably null |
Het |
| Rabl6 |
A |
G |
2: 25,477,469 (GRCm39) |
V327A |
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,770,189 (GRCm39) |
I516F |
possibly damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Slc35a3 |
G |
A |
3: 116,488,267 (GRCm39) |
T140I |
possibly damaging |
Het |
| Slc38a7 |
A |
G |
8: 96,568,200 (GRCm39) |
V395A |
probably damaging |
Het |
| Stag3 |
T |
A |
5: 138,280,247 (GRCm39) |
C37* |
probably null |
Het |
| Stag3 |
T |
C |
5: 138,289,628 (GRCm39) |
L266P |
probably damaging |
Het |
| Strn |
A |
G |
17: 78,991,780 (GRCm39) |
S180P |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,867,064 (GRCm39) |
T83A |
probably benign |
Het |
| Vmn1r69 |
T |
C |
7: 10,314,585 (GRCm39) |
I49V |
probably benign |
Het |
| Vrk2 |
G |
A |
11: 26,426,564 (GRCm39) |
P387L |
probably benign |
Het |
| Xdh |
A |
T |
17: 74,233,565 (GRCm39) |
M183K |
probably benign |
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 |
|
IGL01539:Pde1b
|
APN |
15 |
103,433,772 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation