Incidental Mutation 'IGL00886:Pde1c'
ID 27573
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde1c
Ensembl Gene ENSMUSG00000004347
Gene Name phosphodiesterase 1C
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.260) question?
Stock # IGL00886
Quality Score
Status
Chromosome 6
Chromosomal Location 56069804-56569103 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56173674 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 287 (Y287H)
Ref Sequence ENSEMBL: ENSMUSP00000145508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044505] [ENSMUST00000114327] [ENSMUST00000164037] [ENSMUST00000164752] [ENSMUST00000166102] [ENSMUST00000166890] [ENSMUST00000168944] [ENSMUST00000170774] [ENSMUST00000203372]
AlphaFold Q64338
Predicted Effect probably damaging
Transcript: ENSMUST00000044505
AA Change: Y227H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046601
Gene: ENSMUSG00000004347
AA Change: Y227H

DomainStartEndE-ValueType
Pfam:PDEase_I_N 82 142 3.8e-34 PFAM
HDc 225 390 1.02e-5 SMART
Blast:HDc 402 681 1e-123 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000114327
AA Change: Y227H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109966
Gene: ENSMUSG00000004347
AA Change: Y227H

DomainStartEndE-ValueType
Pfam:PDEase_I_N 82 142 4.7e-31 PFAM
HDc 225 390 1.02e-5 SMART
Blast:HDc 402 650 1e-110 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000164037
AA Change: Y218H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130139
Gene: ENSMUSG00000004347
AA Change: Y218H

DomainStartEndE-ValueType
Pfam:PDEase_I_N 73 133 8e-32 PFAM
HDc 216 381 1.02e-5 SMART
Blast:HDc 393 618 1e-102 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000164752
AA Change: Y227H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129185
Gene: ENSMUSG00000004347
AA Change: Y227H

DomainStartEndE-ValueType
Pfam:PDEase_I_N 82 142 3e-28 PFAM
HDc 225 390 5.7e-8 SMART
Blast:HDc 402 627 1e-101 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000166102
AA Change: Y227H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131350
Gene: ENSMUSG00000004347
AA Change: Y227H

DomainStartEndE-ValueType
Pfam:PDEase_I_N 82 142 3e-28 PFAM
HDc 225 390 5.7e-8 SMART
Blast:HDc 402 627 1e-101 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000166890
AA Change: Y199H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131892
Gene: ENSMUSG00000004347
AA Change: Y199H

DomainStartEndE-ValueType
Pfam:PDEase_I_N 54 114 3.5e-31 PFAM
HDc 197 362 1.02e-5 SMART
Blast:HDc 374 599 1e-102 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000168944
AA Change: Y227H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128364
Gene: ENSMUSG00000004347
AA Change: Y227H

DomainStartEndE-ValueType
Pfam:PDEase_I_N 82 142 4.7e-31 PFAM
HDc 225 390 1.02e-5 SMART
Blast:HDc 402 650 1e-110 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000170774
AA Change: Y190H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133170
Gene: ENSMUSG00000004347
AA Change: Y190H

DomainStartEndE-ValueType
Pfam:PDEase_I_N 45 105 3.6e-31 PFAM
HDc 188 353 1.02e-5 SMART
Blast:HDc 365 613 1e-110 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198921
Predicted Effect probably damaging
Transcript: ENSMUST00000203372
AA Change: Y287H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145508
Gene: ENSMUSG00000004347
AA Change: Y287H

DomainStartEndE-ValueType
Pfam:PDEase_I_N 142 202 3.1e-31 PFAM
HDc 285 450 5.8e-8 SMART
Blast:HDc 462 741 1e-122 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203967
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016]
PHENOTYPE: Olfactory sensory nerves from homozygous null mice have significantly reduced action potentials in response to odor with slower onset kinetics and a faster response termination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,163,275 R67H possibly damaging Het
Ak4 G T 4: 101,447,189 E59* probably null Het
Ano10 T C 9: 122,271,324 N116S probably benign Het
Arid1b T A 17: 5,126,979 H658Q probably damaging Het
Atf2 G A 2: 73,845,503 T208I possibly damaging Het
Bco1 T C 8: 117,130,637 W448R probably damaging Het
Cel A T 2: 28,559,385 C277S probably damaging Het
Chd5 T A 4: 152,359,699 D296E probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Fmo9 T C 1: 166,680,145 probably null Het
Gdpgp1 T G 7: 80,239,352 L377R probably damaging Het
Gm26938 T A 5: 139,826,336 D3V probably damaging Het
Gpld1 T A 13: 24,962,353 Y193* probably null Het
Gtf2h4 T C 17: 35,669,982 H265R probably damaging Het
Hadh G T 3: 131,249,816 T83K probably benign Het
Hao1 T C 2: 134,523,159 M183V probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ift88 T C 14: 57,478,068 Y523H probably damaging Het
Il23r G T 6: 67,473,890 Q202K possibly damaging Het
Iyd T C 10: 3,540,444 D50A probably benign Het
Katnal2 A T 18: 77,002,754 L248Q probably damaging Het
Krtap26-1 A T 16: 88,647,379 V118E possibly damaging Het
Lzic T C 4: 149,493,296 probably null Het
Mical2 T A 7: 112,315,072 N316K probably benign Het
Ndufc2 T A 7: 97,400,190 M1K probably null Het
Net1 A G 13: 3,893,391 probably benign Het
Olfr309 G A 7: 86,307,051 L21F probably damaging Het
Pitpnm1 T C 19: 4,110,665 probably null Het
Pla2r1 T A 2: 60,424,324 E1300V probably damaging Het
Polr3g T C 13: 81,694,677 Y73C probably damaging Het
Ryr1 T A 7: 29,024,229 E4137V probably damaging Het
Scrib T C 15: 76,048,794 D1425G possibly damaging Het
Slc25a12 A G 2: 71,344,032 Y23H possibly damaging Het
Spef2 C A 15: 9,663,095 G867W probably damaging Het
Strn3 A T 12: 51,610,150 Y698N probably damaging Het
Tldc1 T C 8: 119,773,268 probably benign Het
Ube3a T A 7: 59,284,737 F533I probably damaging Het
Other mutations in Pde1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02316:Pde1c APN 6 56151351 missense possibly damaging 0.77
IGL02751:Pde1c APN 6 56181688 missense probably damaging 1.00
IGL02801:Pde1c APN 6 56173666 missense probably damaging 1.00
IGL02975:Pde1c APN 6 56158936 missense probably damaging 1.00
IGL03357:Pde1c APN 6 56180093 missense probably damaging 1.00
R0523:Pde1c UTSW 6 56174941 missense probably damaging 1.00
R0717:Pde1c UTSW 6 56123012 missense probably damaging 0.98
R0973:Pde1c UTSW 6 56361815 missense probably benign 0.00
R1344:Pde1c UTSW 6 56361767 missense probably benign 0.08
R1521:Pde1c UTSW 6 56173607 missense possibly damaging 0.91
R1818:Pde1c UTSW 6 56126892 nonsense probably null
R2004:Pde1c UTSW 6 56159011 missense probably damaging 1.00
R2026:Pde1c UTSW 6 56180190 missense probably damaging 1.00
R4380:Pde1c UTSW 6 56072278 missense probably null 0.02
R4729:Pde1c UTSW 6 56072209 missense probably damaging 1.00
R4847:Pde1c UTSW 6 56123034 missense possibly damaging 0.52
R4993:Pde1c UTSW 6 56150624 missense probably damaging 0.98
R5666:Pde1c UTSW 6 56126857 critical splice donor site probably null
R6005:Pde1c UTSW 6 56479202 splice site probably null
R6636:Pde1c UTSW 6 56180102 missense probably damaging 1.00
R6701:Pde1c UTSW 6 56181700 missense probably damaging 1.00
R6990:Pde1c UTSW 6 56442035 missense possibly damaging 0.92
R7607:Pde1c UTSW 6 56150628 missense probably damaging 1.00
R7622:Pde1c UTSW 6 56126925 missense probably damaging 1.00
R8260:Pde1c UTSW 6 56137419 missense probably benign
R8416:Pde1c UTSW 6 56151291 critical splice donor site probably null
R8898:Pde1c UTSW 6 56137386 missense probably damaging 0.99
R8904:Pde1c UTSW 6 56179143 missense possibly damaging 0.47
R9280:Pde1c UTSW 6 56137520 missense probably benign 0.44
R9405:Pde1c UTSW 6 56072214 nonsense probably null
Posted On 2013-04-17