Incidental Mutation 'R1312:Pde1b'
ID |
157981 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde1b
|
Ensembl Gene |
ENSMUSG00000022489 |
Gene Name |
phosphodiesterase 1B, Ca2+-calmodulin dependent |
Synonyms |
|
MMRRC Submission |
039378-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1312 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
103411461-103438479 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 103434700 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 339
(S339A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153722
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023132]
[ENSMUST00000023133]
[ENSMUST00000226468]
[ENSMUST00000226493]
[ENSMUST00000227955]
|
AlphaFold |
Q01065 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023132
AA Change: S358A
PolyPhen 2
Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000023132 Gene: ENSMUSG00000022489 AA Change: S358A
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
AA Change: S358A
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226493
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227925
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227955
AA Change: S339A
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228813
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 85.7%
|
Validation Efficiency |
98% (41/42) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
A |
T |
4: 103,127,994 (GRCm39) |
F44I |
probably damaging |
Het |
Acot10 |
A |
G |
15: 20,666,585 (GRCm39) |
V52A |
probably benign |
Het |
Arhgap32 |
T |
C |
9: 32,166,608 (GRCm39) |
V415A |
probably benign |
Het |
Cacna2d3 |
T |
C |
14: 28,767,625 (GRCm39) |
D750G |
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,588,188 (GRCm39) |
|
probably benign |
Het |
Edem2 |
T |
G |
2: 155,544,505 (GRCm39) |
D415A |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,781,219 (GRCm39) |
|
probably benign |
Het |
Ercc5 |
T |
C |
1: 44,203,179 (GRCm39) |
F272S |
probably damaging |
Het |
Fcamr |
C |
T |
1: 130,739,224 (GRCm39) |
R175C |
probably damaging |
Het |
Frem3 |
G |
A |
8: 81,341,951 (GRCm39) |
V1415I |
probably benign |
Het |
Fry |
T |
C |
5: 150,326,897 (GRCm39) |
|
probably benign |
Het |
Gm14443 |
A |
T |
2: 175,013,383 (GRCm39) |
|
probably benign |
Het |
Ift70a2 |
A |
T |
2: 75,806,676 (GRCm39) |
V612D |
probably benign |
Het |
Insrr |
A |
G |
3: 87,707,797 (GRCm39) |
T80A |
probably damaging |
Het |
Itih2 |
T |
A |
2: 10,102,735 (GRCm39) |
T800S |
probably benign |
Het |
Lgals9 |
G |
A |
11: 78,867,443 (GRCm39) |
Q42* |
probably null |
Het |
Lrrk2 |
A |
G |
15: 91,584,098 (GRCm39) |
N286S |
probably damaging |
Het |
Mefv |
A |
G |
16: 3,526,398 (GRCm39) |
|
probably benign |
Het |
Mkx |
T |
A |
18: 6,937,192 (GRCm39) |
D284V |
probably benign |
Het |
Mtrex |
A |
C |
13: 113,019,785 (GRCm39) |
L775* |
probably null |
Het |
Or11g27 |
T |
A |
14: 50,771,652 (GRCm39) |
I261K |
probably benign |
Het |
Plch2 |
C |
T |
4: 155,074,256 (GRCm39) |
V765M |
probably damaging |
Het |
Ppp4r3b |
A |
T |
11: 29,123,358 (GRCm39) |
Q18L |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,757,687 (GRCm39) |
|
probably null |
Het |
Pwp1 |
G |
A |
10: 85,715,173 (GRCm39) |
D220N |
probably damaging |
Het |
Rel |
G |
A |
11: 23,707,010 (GRCm39) |
T64I |
probably damaging |
Het |
Rho |
C |
G |
6: 115,912,566 (GRCm39) |
N160K |
probably damaging |
Het |
Sntb2 |
A |
G |
8: 107,728,209 (GRCm39) |
T386A |
probably damaging |
Het |
Styxl2 |
A |
T |
1: 165,926,860 (GRCm39) |
N917K |
possibly damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
Vmn1r167 |
A |
G |
7: 23,204,548 (GRCm39) |
F156S |
probably benign |
Het |
Vrk2 |
G |
A |
11: 26,485,522 (GRCm39) |
|
probably benign |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
Zfp638 |
A |
G |
6: 83,906,023 (GRCm39) |
N63D |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGAATGGACTTGGTGCCCTGGAG -3'
(R):5'- TGCTGCCCCTATGACCTGAAAAC -3'
Sequencing Primer
(F):5'- aacaactcaatgtgtggcttc -3'
(R):5'- GCTGGGCTGATAAAGACTTTAC -3'
|
Posted On |
2014-02-18 |