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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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