Incidental Mutation 'R6117:Pde1b'
ID 485184
Institutional Source Beutler Lab
Gene Symbol Pde1b
Ensembl Gene ENSMUSG00000022489
Gene Name phosphodiesterase 1B, Ca2+-calmodulin dependent
Synonyms
MMRRC Submission 044266-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6117 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 103411461-103438479 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103429909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 134 (V134A)
Ref Sequence ENSEMBL: ENSMUSP00000023132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023132] [ENSMUST00000226468] [ENSMUST00000226493] [ENSMUST00000227955]
AlphaFold Q01065
Predicted Effect probably damaging
Transcript: ENSMUST00000023132
AA Change: V134A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023132
Gene: ENSMUSG00000022489
AA Change: V134A

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: V134A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000226493
AA Change: V134A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227925
Predicted Effect probably benign
Transcript: ENSMUST00000227955
AA Change: V115A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,348,534 (GRCm39) Y625C probably damaging Het
Ankmy1 A G 1: 92,788,996 (GRCm39) probably benign Het
Apmap T C 2: 150,442,252 (GRCm39) T41A probably benign Het
Cacna1a A G 8: 85,341,350 (GRCm39) Y1804C probably damaging Het
Cacna1e A T 1: 154,437,537 (GRCm39) I333N possibly damaging Het
Cdsn C A 17: 35,865,931 (GRCm39) S153R unknown Het
Celsr1 A T 15: 85,816,612 (GRCm39) M1777K probably benign Het
Cmtr1 A G 17: 29,901,139 (GRCm39) M249V probably benign Het
Cmya5 A G 13: 93,231,674 (GRCm39) L1138P probably damaging Het
Crim1 A C 17: 78,610,517 (GRCm39) D324A probably damaging Het
Dmap1 T A 4: 117,532,732 (GRCm39) probably null Het
Dnah17 T C 11: 118,010,397 (GRCm39) Y307C probably benign Het
Dnah5 T A 15: 28,270,566 (GRCm39) L956H probably damaging Het
Enpp3 C T 10: 24,663,750 (GRCm39) S537N probably damaging Het
Eya3 T A 4: 132,439,173 (GRCm39) L323Q probably damaging Het
Fads3 A T 19: 10,031,631 (GRCm39) H226L probably damaging Het
Flrt3 T A 2: 140,502,365 (GRCm39) D421V possibly damaging Het
Frmd4a T C 2: 4,607,060 (GRCm39) V370A possibly damaging Het
Gapvd1 T C 2: 34,580,471 (GRCm39) probably null Het
Gm2178 T C 14: 26,235,995 (GRCm39) probably benign Het
Gm5592 A G 7: 40,937,888 (GRCm39) N390S probably benign Het
Hoxa10 T A 6: 52,211,800 (GRCm39) R39* probably null Het
Kcnj1 A G 9: 32,308,478 (GRCm39) T281A probably damaging Het
Myo10 T C 15: 25,805,745 (GRCm39) Y1709H probably benign Het
Nacad T C 11: 6,549,810 (GRCm39) D1127G probably benign Het
Naip1 T A 13: 100,581,245 (GRCm39) M1L probably damaging Het
Or10ak9 A T 4: 118,726,341 (GRCm39) Y121F probably benign Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Pcdhb12 G A 18: 37,568,695 (GRCm39) probably benign Het
Plxnb2 A T 15: 89,042,203 (GRCm39) D1600E probably benign Het
Prss54 T A 8: 96,292,086 (GRCm39) probably null Het
Ryr3 A T 2: 112,465,741 (GRCm39) I4757N probably damaging Het
Slc1a6 T C 10: 78,624,822 (GRCm39) Y76H possibly damaging Het
Slco3a1 C T 7: 73,968,254 (GRCm39) D489N probably benign Het
Sox15 G T 11: 69,546,716 (GRCm39) G173V possibly damaging Het
Stard3 T C 11: 98,263,088 (GRCm39) S48P probably damaging Het
Stk32c G A 7: 138,702,839 (GRCm39) Q67* probably null Het
Svil T A 18: 5,116,016 (GRCm39) W2101R probably damaging Het
Taar7e T A 10: 23,914,427 (GRCm39) Y306N probably damaging Het
Tarbp1 T A 8: 127,154,280 (GRCm39) M1485L probably benign Het
Togaram1 A G 12: 65,014,261 (GRCm39) D504G probably damaging Het
Trrap T C 5: 144,739,771 (GRCm39) L1091S possibly damaging Het
Unc80 A G 1: 66,714,226 (GRCm39) E2856G possibly damaging Het
Usp47 C T 7: 111,687,139 (GRCm39) T699M 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
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
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'- AAGCTGTGACTTTCCTTCTGG -3'
(R):5'- CACAGAGGTATACGTTCTCCGG -3'

Sequencing Primer
(F):5'- TGGTCCTCAGGCAAATCCTAG -3'
(R):5'- TCCGGAACATCCTGAGAAAGAAC -3'
Posted On 2017-08-16