Incidental Mutation 'IGL02537:Pdc'
ID 297567
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 # IGL02537
Quality Score
Status
Chromosome 1
Chromosomal Location 150195168-150209657 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 150208760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 81 (D81V)
Ref Sequence ENSEMBL: ENSMUSP00000141136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165062] [ENSMUST00000185698] [ENSMUST00000186572] [ENSMUST00000191228]
AlphaFold Q9QW08
Predicted Effect possibly damaging
Transcript: ENSMUST00000165062
AA Change: D81V

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000131631
Gene: ENSMUSG00000006007
AA Change: D81V

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 possibly damaging
Transcript: ENSMUST00000186572
AA Change: D81V

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140843
Gene: ENSMUSG00000006007
AA Change: D81V

DomainStartEndE-ValueType
Pfam:Phosducin 1 185 1.6e-94 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000191228
AA Change: D81V

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141136
Gene: ENSMUSG00000006007
AA Change: D81V

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Alx3 T A 3: 107,512,175 (GRCm39) M271K possibly damaging Het
Ank2 T C 3: 126,749,565 (GRCm39) E488G probably damaging Het
Arsk T A 13: 76,223,025 (GRCm39) R191* probably null Het
B230217C12Rik T C 11: 97,733,011 (GRCm39) S111P possibly damaging Het
Bckdhb A G 9: 83,871,194 (GRCm39) I158V probably benign Het
Bub1 G A 2: 127,643,267 (GRCm39) Q1026* probably null Het
C8a A G 4: 104,703,148 (GRCm39) M303T probably damaging Het
Cftr A G 6: 18,274,596 (GRCm39) T905A probably benign Het
Ciao3 C T 17: 25,997,916 (GRCm39) probably benign Het
Col14a1 A T 15: 55,208,310 (GRCm39) K132* probably null Het
Depdc5 T A 5: 33,125,131 (GRCm39) L531Q probably damaging Het
Dzip1 G A 14: 119,146,988 (GRCm39) probably benign Het
F5 C A 1: 164,020,686 (GRCm39) L1054I probably benign Het
Gm4353 A T 7: 115,682,987 (GRCm39) I198N probably damaging Het
Il1a T A 2: 129,150,996 (GRCm39) E9V probably damaging Het
Irag1 A T 7: 110,470,680 (GRCm39) Y678* probably null Het
Kif15 A G 9: 122,822,914 (GRCm39) T432A probably benign Het
Kndc1 T C 7: 139,490,326 (GRCm39) V276A probably benign Het
Or2aj5 A T 16: 19,424,549 (GRCm39) Y290N probably damaging Het
Or4a74 A C 2: 89,439,739 (GRCm39) S236A possibly damaging Het
Or6n2 A T 1: 173,897,020 (GRCm39) D52V possibly damaging Het
Palld T C 8: 62,137,968 (GRCm39) S596G probably benign Het
Plcd4 A G 1: 74,595,209 (GRCm39) K361R possibly damaging Het
Plekhm1 T A 11: 103,288,018 (GRCm39) D43V probably damaging Het
Prpf31 G T 7: 3,641,750 (GRCm39) G356C probably damaging Het
Rbpj T A 5: 53,799,485 (GRCm39) I100K probably damaging Het
Rufy3 A G 5: 88,788,521 (GRCm39) probably benign Het
Slc40a1 C T 1: 45,950,553 (GRCm39) V300I probably benign Het
Slc6a12 A T 6: 121,337,473 (GRCm39) I386F probably benign Het
Strip1 C T 3: 107,524,210 (GRCm39) R569H possibly damaging Het
Tep1 A T 14: 51,073,570 (GRCm39) D1996E probably damaging Het
Tmem68 A G 4: 3,569,649 (GRCm39) S14P possibly damaging Het
Trav12-1 C A 14: 53,775,980 (GRCm39) C44* probably null Het
Uba1 G A X: 20,544,902 (GRCm39) R693H possibly damaging Het
Ugt2b38 T C 5: 87,569,590 (GRCm39) T246A possibly damaging Het
Usp24 A G 4: 106,249,564 (GRCm39) Y1427C probably damaging Het
Vmn2r78 A T 7: 86,603,496 (GRCm39) Y558F probably damaging Het
Wdr54 A G 6: 83,130,372 (GRCm39) W221R possibly damaging Het
Xpo4 T C 14: 57,831,290 (GRCm39) T773A probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp518a T A 19: 40,903,874 (GRCm39) S1268T probably benign Het
Znfx1 T C 2: 166,898,087 (GRCm39) D279G probably benign Het
Other mutations in Pdc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00436:Pdc APN 1 150,209,006 (GRCm39) missense probably damaging 0.99
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 2015-04-16