Incidental Mutation 'IGL01988:Pde1b'
ID181993
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde1b
Ensembl Gene ENSMUSG00000022489
Gene Namephosphodiesterase 1B, Ca2+-calmodulin dependent
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01988
Quality Score
Status
Chromosome15
Chromosomal Location103503034-103530052 bp(+) (GRCm38)
Type of Mutationunclassified (2708 bp from exon)
DNA Base Change (assembly) A to G at 103524856 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023132] [ENSMUST00000226468] [ENSMUST00000226493] [ENSMUST00000227955]
Predicted Effect probably damaging
Transcript: ENSMUST00000023132
AA Change: Y264C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023132
Gene: ENSMUSG00000022489
AA Change: Y264C

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 damaging
Transcript: ENSMUST00000226468
AA Change: Y264C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably null
Transcript: ENSMUST00000226493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227925
Predicted Effect probably damaging
Transcript: ENSMUST00000227955
AA Change: Y245C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,225,111 S493R probably benign Het
Abca17 T C 17: 24,334,255 N161D probably damaging Het
Ace2 C A X: 164,163,992 N290K possibly damaging Het
Adam26a G A 8: 43,569,170 P428S possibly damaging Het
Adgrv1 T C 13: 81,557,309 R1461G probably damaging Het
Arhgef10l T C 4: 140,578,361 probably benign Het
Bicc1 A G 10: 70,956,176 V334A probably damaging Het
C8a T C 4: 104,826,694 Y408C probably damaging Het
Col24a1 T C 3: 145,524,167 probably null Het
Copa T A 1: 172,118,264 N931K probably benign Het
Cr1l A G 1: 195,117,550 M272T probably damaging Het
Dcaf12 T C 4: 41,298,299 N283S probably benign Het
Dnttip2 T A 3: 122,276,295 S386R probably benign Het
Fbll1 G T 11: 35,797,901 D178E probably benign Het
Fgd6 A G 10: 94,074,335 probably benign Het
Fyn T A 10: 39,533,921 L408* probably null Het
Gkn2 T C 6: 87,379,275 V176A probably benign Het
Gm10764 G A 10: 87,291,091 C120Y unknown Het
Gpr19 A T 6: 134,869,284 F442I probably damaging Het
Herc1 A G 9: 66,488,075 probably benign Het
Il7 A G 3: 7,604,066 Y37H possibly damaging Het
Kcnj3 G A 2: 55,437,231 D11N probably benign Het
Kif1c A G 11: 70,704,936 D156G probably damaging Het
Lrch1 T C 14: 74,795,373 probably benign Het
Nedd1 G T 10: 92,714,159 T88K probably benign Het
Nlrc3 T G 16: 3,953,939 S875R probably benign Het
Olfr1251 T A 2: 89,667,080 I269F probably benign Het
Optc A G 1: 133,906,929 probably null Het
Pcdh17 T A 14: 84,446,622 D176E probably damaging Het
Phf11a A T 14: 59,277,358 D291E probably damaging Het
Slc30a8 A T 15: 52,335,205 I349L probably benign Het
Spty2d1 T A 7: 46,997,610 S524C probably damaging Het
Syndig1 T C 2: 150,003,170 probably benign Het
Syvn1 G A 19: 6,052,407 A502T probably benign Het
Tenm2 A G 11: 36,027,251 L1894P probably damaging Het
Tmem176a T A 6: 48,842,620 V11E possibly damaging Het
Tpr G T 1: 150,426,999 probably null Het
Txnrd2 T C 16: 18,456,018 probably benign Het
Ubqln3 G A 7: 104,142,882 probably benign Het
Vmn1r6 C T 6: 57,002,665 T82I probably damaging Het
Wdfy4 C T 14: 33,076,480 E1990K possibly damaging Het
Zdhhc7 T C 8: 120,082,590 R293G probably benign Het
Zeb1 T A 18: 5,759,037 L148* probably null Het
Other mutations in Pde1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Pde1b APN 15 103526680 missense probably damaging 1.00
IGL01539:Pde1b APN 15 103525345 splice site probably benign
IGL02380:Pde1b APN 15 103519990 missense possibly damaging 0.80
IGL02424:Pde1b APN 15 103528219 splice site probably benign
IGL02710:Pde1b APN 15 103522057 missense probably damaging 1.00
R0111:Pde1b UTSW 15 103503513 missense probably benign
R1302:Pde1b UTSW 15 103527599 missense probably benign 0.12
R1312:Pde1b UTSW 15 103526273 missense possibly damaging 0.71
R1449:Pde1b UTSW 15 103525043 missense probably damaging 0.99
R1631:Pde1b UTSW 15 103521672 missense probably damaging 0.97
R1848:Pde1b UTSW 15 103525340 splice site probably null
R4032:Pde1b UTSW 15 103521326 missense probably damaging 1.00
R4896:Pde1b UTSW 15 103521374 missense probably damaging 1.00
R4901:Pde1b UTSW 15 103526685 missense probably null 0.92
R5052:Pde1b UTSW 15 103527648 missense possibly damaging 0.76
R5935:Pde1b UTSW 15 103521439 missense possibly damaging 0.81
R6117:Pde1b UTSW 15 103521482 missense probably damaging 0.99
R7092:Pde1b UTSW 15 103527031 missense probably benign 0.02
R7116:Pde1b UTSW 15 103528318 missense possibly damaging 0.82
R7270:Pde1b UTSW 15 103521655 missense possibly damaging 0.76
Posted On2014-05-07