Incidental Mutation 'R0111:Pde1b'
ID 20477
Institutional Source Beutler Lab
Gene Symbol Pde1b
Ensembl Gene ENSMUSG00000022489
Gene Name phosphodiesterase 1B, Ca2+-calmodulin dependent
Synonyms
MMRRC Submission 038397-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0111 (G1)
Quality Score 88
Status Validated (trace)
Chromosome 15
Chromosomal Location 103411461-103438479 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103411940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 14 (S14P)
Ref Sequence ENSEMBL: ENSMUSP00000154483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023132] [ENSMUST00000047405] [ENSMUST00000226468] [ENSMUST00000226493]
AlphaFold Q01065
Predicted Effect probably benign
Transcript: ENSMUST00000023132
AA Change: S14P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023132
Gene: ENSMUSG00000022489
AA Change: S14P

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: ENSMUST00000047405
SMART Domains Protein: ENSMUSP00000035400
Gene: ENSMUSG00000022488

DomainStartEndE-ValueType
Pfam:Nckap1 7 1123 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226468
AA Change: S14P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000226493
AA Change: S14P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230276
Meta Mutation Damage Score 0.0579 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.8%
Validation Efficiency 100% (65/65)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 A T 17: 56,124,073 (GRCm39) H491L possibly damaging Het
Adgrg3 T C 8: 95,761,738 (GRCm39) probably benign Het
Arhgap5 T C 12: 52,606,743 (GRCm39) probably benign Het
Asic1 T C 15: 99,594,864 (GRCm39) Y334H probably damaging Het
Calcr T A 6: 3,717,157 (GRCm39) D101V probably damaging Het
Cdh2 A T 18: 16,907,566 (GRCm39) N57K probably benign Het
Clec4d C A 6: 123,245,006 (GRCm39) Y95* probably null Het
Cracr2a A G 6: 127,581,024 (GRCm39) T67A probably benign Het
Dennd5a A T 7: 109,533,961 (GRCm39) V53D probably damaging Het
Dnah7a T C 1: 53,507,843 (GRCm39) D3076G probably benign Het
Espnl T C 1: 91,272,464 (GRCm39) M608T probably benign Het
Fam149a C T 8: 45,794,183 (GRCm39) probably benign Het
Flnc T C 6: 29,454,339 (GRCm39) V1884A probably damaging Het
Helz2 A C 2: 180,879,595 (GRCm39) S674R probably benign Het
Hoxa2 T G 6: 52,141,467 (GRCm39) probably null Het
Ifi47 T A 11: 48,986,897 (GRCm39) N221K probably damaging Het
Ipo9 A G 1: 135,333,662 (GRCm39) V340A probably damaging Het
Kalrn A T 16: 33,851,960 (GRCm39) N373K probably damaging Het
Kif26a T C 12: 112,129,771 (GRCm39) probably benign Het
Kiss1r A G 10: 79,754,523 (GRCm39) T6A possibly damaging Het
Lama1 A T 17: 68,044,493 (GRCm39) I131F probably damaging Het
Nefm T C 14: 68,361,991 (GRCm39) D91G probably benign Het
Nos3 C T 5: 24,577,702 (GRCm39) T572I probably damaging Het
Notch2 T C 3: 98,046,077 (GRCm39) F1710L probably benign Het
Or13e8 T C 4: 43,696,648 (GRCm39) N175S probably damaging Het
Or6c6c T A 10: 129,541,146 (GRCm39) I133N probably damaging Het
Ostm1 T C 10: 42,555,254 (GRCm39) L92P probably damaging Het
Pcdh15 T A 10: 74,462,651 (GRCm39) Y1445* probably null Het
Pitpna T C 11: 75,516,310 (GRCm39) V265A probably benign Het
Plec G T 15: 76,062,846 (GRCm39) T2476K probably damaging Het
Pold2 A G 11: 5,826,760 (GRCm39) L58P probably damaging Het
Ppp3cc C T 14: 70,493,808 (GRCm39) probably null Het
Prss36 A G 7: 127,533,717 (GRCm39) L530P probably damaging Het
Ptpn13 T C 5: 103,728,629 (GRCm39) probably benign Het
Ptpn23 T C 9: 110,214,691 (GRCm39) D1570G probably damaging Het
Rab42 T C 4: 132,029,676 (GRCm39) D182G possibly damaging Het
Rbm27 T A 18: 42,438,737 (GRCm39) probably benign Het
Rp1 T C 1: 4,414,983 (GRCm39) E2043G probably damaging Het
Rufy3 C T 5: 88,778,443 (GRCm39) S341F probably damaging Het
Samd9l C T 6: 3,374,946 (GRCm39) V772I possibly damaging Het
Scaper A G 9: 55,510,074 (GRCm39) M654T probably benign Het
Shld2 T C 14: 33,989,686 (GRCm39) K407E probably damaging Het
Sipa1l3 G A 7: 29,047,743 (GRCm39) P333S probably damaging Het
Slc30a10 C A 1: 185,187,744 (GRCm39) R162S probably benign Het
Spryd3 A T 15: 102,036,972 (GRCm39) probably null Het
Tas2r110 T C 6: 132,845,166 (GRCm39) F66L probably benign Het
Tent5c T C 3: 100,380,102 (GRCm39) D218G probably damaging Het
Thap2 T C 10: 115,208,532 (GRCm39) N196S probably benign Het
Themis2 C A 4: 132,517,236 (GRCm39) R88L probably benign Het
Trip12 A T 1: 84,736,854 (GRCm39) probably benign Het
Ube3b T A 5: 114,528,437 (GRCm39) probably benign Het
Usp20 T A 2: 30,892,624 (GRCm39) H64Q probably damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r15 T C 5: 109,435,022 (GRCm39) R561G possibly damaging Het
Vsig10l A G 7: 43,117,525 (GRCm39) D604G probably damaging Het
Wdr90 A G 17: 26,067,418 (GRCm39) probably benign Het
Xirp2 A T 2: 67,338,722 (GRCm39) N321I probably damaging Het
Zfp595 A G 13: 67,468,984 (GRCm39) F11S possibly damaging Het
Zfp953 T A 13: 67,491,139 (GRCm39) H271L probably damaging Het
Other mutations in Pde1b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CTTGGGCCGAGCAGAAACACAC -3'
(R):5'- TCAGGGCCATGTTTCCTCGCAC -3'

Sequencing Primer
(F):5'- AGAAACACACCGGCCTG -3'
(R):5'- TGTGTGACCAAGAGAATCTACCTG -3'
Posted On 2013-04-11