Incidental Mutation 'IGL00436:Pdc'
ID 7354
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdc
Ensembl Gene ENSMUSG00000006007
Gene Name phosducin
Synonyms Pdc, Rpr1, Rpr-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # IGL00436
Quality Score
Status
Chromosome 1
Chromosomal Location 150195168-150209657 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 150209006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 163 (V163A)
Ref Sequence ENSEMBL: ENSMUSP00000140843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165062] [ENSMUST00000185698] [ENSMUST00000186572] [ENSMUST00000191228]
AlphaFold Q9QW08
Predicted Effect probably damaging
Transcript: ENSMUST00000165062
AA Change: V163A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131631
Gene: ENSMUSG00000006007
AA Change: V163A

DomainStartEndE-ValueType
Pfam:Phosducin 1 244 6.4e-130 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185698
SMART Domains Protein: ENSMUSP00000140669
Gene: ENSMUSG00000006007

DomainStartEndE-ValueType
Pfam:Phosducin 1 79 2.9e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186460
Predicted Effect probably damaging
Transcript: ENSMUST00000186572
AA Change: V163A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140843
Gene: ENSMUSG00000006007
AA Change: V163A

DomainStartEndE-ValueType
Pfam:Phosducin 1 185 1.6e-94 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000191228
AA Change: V163A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141136
Gene: ENSMUSG00000006007
AA Change: V163A

DomainStartEndE-ValueType
Pfam:Phosducin 1 244 6.4e-130 PFAM
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 a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display normal retinal morphology and rod function with reduced transducin (Gnat1) translocation. Mice homozygous for a different knock-out allele exhibit large pupils, increased blood pressure, age-related vascular smooth muscle hypertrophy, and stress-induced hypertension. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530083I20Rik T A 9: 122,725,197 (GRCm39) probably benign Het
Bop1 T C 15: 76,338,728 (GRCm39) T436A probably benign Het
Dnah11 G T 12: 118,000,194 (GRCm39) T2277K possibly damaging Het
F13b A T 1: 139,438,325 (GRCm39) E313D probably benign Het
Fsd1 T C 17: 56,300,943 (GRCm39) probably null Het
Gm14326 T C 2: 177,587,491 (GRCm39) K502E probably damaging Het
Kmt2c T C 5: 25,486,259 (GRCm39) N1385D probably damaging Het
Rapgef6 T C 11: 54,570,091 (GRCm39) S873P probably benign Het
Spsb4 T A 9: 96,826,646 (GRCm39) Y269F probably benign Het
Sult6b2 T G 6: 142,743,563 (GRCm39) probably benign Het
Tfpi2 A G 6: 3,965,407 (GRCm39) V17A probably benign Het
Other mutations in Pdc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02537:Pdc APN 1 150,208,760 (GRCm39) missense possibly damaging 0.68
R0349:Pdc UTSW 1 150,209,178 (GRCm39) missense probably benign 0.07
R0502:Pdc UTSW 1 150,204,165 (GRCm39) splice site probably benign
R1167:Pdc UTSW 1 150,208,996 (GRCm39) missense probably damaging 1.00
R1717:Pdc UTSW 1 150,208,892 (GRCm39) missense probably damaging 1.00
R5182:Pdc UTSW 1 150,209,105 (GRCm39) missense possibly damaging 0.84
R5449:Pdc UTSW 1 150,209,190 (GRCm39) missense probably damaging 1.00
R5766:Pdc UTSW 1 150,209,251 (GRCm39) makesense probably null
R6020:Pdc UTSW 1 150,209,117 (GRCm39) missense probably benign 0.16
R6181:Pdc UTSW 1 150,209,021 (GRCm39) missense probably damaging 1.00
R6425:Pdc UTSW 1 150,209,123 (GRCm39) missense probably benign 0.37
R6660:Pdc UTSW 1 150,209,086 (GRCm39) missense probably damaging 1.00
R6717:Pdc UTSW 1 150,208,769 (GRCm39) missense probably damaging 1.00
R6925:Pdc UTSW 1 150,208,931 (GRCm39) missense probably damaging 1.00
R7716:Pdc UTSW 1 150,206,534 (GRCm39) missense probably benign 0.06
R7820:Pdc UTSW 1 150,209,021 (GRCm39) missense probably damaging 1.00
R8030:Pdc UTSW 1 150,208,964 (GRCm39) missense probably damaging 1.00
R9495:Pdc UTSW 1 150,208,919 (GRCm39) missense probably damaging 0.97
Posted On 2012-04-20