Incidental Mutation 'IGL00227:Pde1b'
ID |
2116 |
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 # |
IGL00227
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
103411461-103438479 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 103435107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 400
(S400F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153722
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023132]
[ENSMUST00000023133]
[ENSMUST00000226468]
[ENSMUST00000226493]
[ENSMUST00000227955]
|
AlphaFold |
Q01065 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023132
AA Change: S419F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000023132 Gene: ENSMUSG00000022489 AA Change: S419F
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 damaging
Transcript: ENSMUST00000226468
AA Change: S419F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226493
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227925
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227955
AA Change: S400F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
C |
A |
17: 84,995,957 (GRCm39) |
|
probably null |
Het |
Alms1 |
A |
G |
6: 85,654,946 (GRCm39) |
E2695G |
probably damaging |
Het |
B3galnt2 |
A |
G |
13: 14,162,016 (GRCm39) |
N246D |
probably benign |
Het |
Ces1h |
A |
T |
8: 94,079,098 (GRCm39) |
M495K |
unknown |
Het |
Chga |
A |
G |
12: 102,529,058 (GRCm39) |
E345G |
probably damaging |
Het |
Chrnb3 |
T |
C |
8: 27,875,129 (GRCm39) |
F43L |
probably benign |
Het |
Ctu1 |
C |
A |
7: 43,324,928 (GRCm39) |
F122L |
possibly damaging |
Het |
Cwf19l2 |
C |
A |
9: 3,409,990 (GRCm39) |
Q40K |
probably benign |
Het |
Dlg2 |
T |
C |
7: 91,614,853 (GRCm39) |
I264T |
probably damaging |
Het |
Dnah1 |
C |
T |
14: 31,008,853 (GRCm39) |
V1974M |
probably damaging |
Het |
Foxf2 |
C |
A |
13: 31,810,172 (GRCm39) |
P37Q |
unknown |
Het |
Gtf2e2 |
T |
C |
8: 34,266,473 (GRCm39) |
|
probably benign |
Het |
Hectd3 |
C |
A |
4: 116,857,785 (GRCm39) |
|
probably benign |
Het |
Hectd3 |
T |
C |
4: 116,857,786 (GRCm39) |
|
probably benign |
Het |
Hectd3 |
T |
C |
4: 116,857,784 (GRCm39) |
|
probably benign |
Het |
Ift122 |
A |
T |
6: 115,894,018 (GRCm39) |
H901L |
probably benign |
Het |
Itih1 |
C |
T |
14: 30,664,846 (GRCm39) |
|
probably null |
Het |
Krt84 |
C |
A |
15: 101,436,208 (GRCm39) |
M460I |
probably benign |
Het |
Moxd1 |
C |
T |
10: 24,158,491 (GRCm39) |
H382Y |
probably damaging |
Het |
Npy6r |
A |
T |
18: 44,409,511 (GRCm39) |
T311S |
probably damaging |
Het |
Or1p1 |
C |
T |
11: 74,179,952 (GRCm39) |
T160I |
probably damaging |
Het |
Or52n3 |
C |
T |
7: 104,530,724 (GRCm39) |
T270I |
probably benign |
Het |
Pbk |
T |
C |
14: 66,051,340 (GRCm39) |
I126T |
probably damaging |
Het |
Plxna2 |
T |
A |
1: 194,326,965 (GRCm39) |
C300S |
probably damaging |
Het |
Pnpla6 |
C |
T |
8: 3,573,808 (GRCm39) |
R419W |
probably damaging |
Het |
Ppp4r3a |
A |
G |
12: 101,016,053 (GRCm39) |
L33P |
probably damaging |
Het |
Ralb |
T |
A |
1: 119,403,770 (GRCm39) |
D119V |
probably benign |
Het |
Relb |
A |
C |
7: 19,356,849 (GRCm39) |
|
probably null |
Het |
Rims1 |
T |
A |
1: 22,507,323 (GRCm39) |
D609V |
probably damaging |
Het |
Scnn1a |
A |
G |
6: 125,315,342 (GRCm39) |
T377A |
probably benign |
Het |
Slc13a2 |
T |
C |
11: 78,291,374 (GRCm39) |
T367A |
probably damaging |
Het |
Sort1 |
T |
C |
3: 108,263,623 (GRCm39) |
L807P |
probably damaging |
Het |
Sptbn1 |
C |
A |
11: 30,060,818 (GRCm39) |
E2051* |
probably null |
Het |
St6galnac1 |
T |
C |
11: 116,658,532 (GRCm39) |
I311V |
probably damaging |
Het |
|
Other mutations in Pde1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2011-12-09 |