Incidental Mutation 'R6660:Pdc'
ID 526790
Institutional Source Beutler Lab
Gene Symbol Pdc
Ensembl Gene ENSMUSG00000006007
Gene Name phosducin
Synonyms Pdc, Rpr1, Rpr-1
MMRRC Submission 044780-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R6660 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 150195168-150209657 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 150209086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 190 (Y190H)
Ref Sequence ENSEMBL: ENSMUSP00000141136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165062] [ENSMUST00000185698] [ENSMUST00000186572] [ENSMUST00000191228]
AlphaFold Q9QW08
Predicted Effect probably damaging
Transcript: ENSMUST00000165062
AA Change: Y190H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131631
Gene: ENSMUSG00000006007
AA Change: Y190H

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

Pfam:Phosducin 1 79 2.9e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186460
Predicted Effect probably benign
Transcript: ENSMUST00000186572
SMART Domains Protein: ENSMUSP00000140843
Gene: ENSMUSG00000006007

Pfam:Phosducin 1 185 1.6e-94 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000191228
AA Change: Y190H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141136
Gene: ENSMUSG00000006007
AA Change: Y190H

Pfam:Phosducin 1 244 6.4e-130 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.5%
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg1 A T 11: 120,237,581 (GRCm39) I289N probably damaging Het
Atg5 A G 10: 44,170,651 (GRCm39) N99S probably benign Het
Ccdc88a A G 11: 29,432,663 (GRCm39) Q1223R probably benign Het
Cdc42 T C 4: 137,056,145 (GRCm39) D122G probably benign Het
Cpxm1 A G 2: 130,238,069 (GRCm39) S127P probably damaging Het
Cyfip2 A G 11: 46,140,634 (GRCm39) C730R possibly damaging Het
Ddx60 T A 8: 62,409,273 (GRCm39) H436Q probably benign Het
Dnah17 T C 11: 117,991,014 (GRCm39) Y1236C probably benign Het
Ep400 G A 5: 110,867,313 (GRCm39) R1000* probably null Het
Ergic3 A G 2: 155,859,754 (GRCm39) I227V probably damaging Het
Fam227b G T 2: 125,986,227 (GRCm39) P13Q probably damaging Het
Gal A G 19: 3,460,108 (GRCm39) L121P possibly damaging Het
Garin2 T C 12: 78,762,131 (GRCm39) V265A possibly damaging Het
Ifi207 T C 1: 173,556,972 (GRCm39) T589A probably benign Het
Intu T C 3: 40,586,100 (GRCm39) V27A probably benign Het
Lama1 A T 17: 68,111,495 (GRCm39) I2249L probably benign Het
Pmm2 T C 16: 8,473,506 (GRCm39) L240P probably damaging Het
Polr1a T C 6: 71,944,358 (GRCm39) V1275A probably damaging Het
Rgsl1 T A 1: 153,701,512 (GRCm39) N314I possibly damaging Het
Rpe65 A T 3: 159,320,345 (GRCm39) N301Y probably damaging Het
Ryr1 A G 7: 28,737,770 (GRCm39) probably null Het
Sh3bp4 A G 1: 89,080,888 (GRCm39) S902G possibly damaging Het
Slc44a4 A T 17: 35,149,201 (GRCm39) R705W probably damaging Het
Slc4a10 A G 2: 62,080,747 (GRCm39) I325V possibly damaging Het
Spns1 A G 7: 125,974,237 (GRCm39) probably null Het
Syt6 T G 3: 103,532,960 (GRCm39) L363R probably damaging Het
Ttn A G 2: 76,544,759 (GRCm39) V32781A probably benign Het
Ube2l6 A G 2: 84,636,852 (GRCm39) T99A probably damaging Het
Unc13b A T 4: 43,177,412 (GRCm39) probably benign Het
Vmn1r189 A T 13: 22,286,066 (GRCm39) L257H possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zfpm2 T C 15: 40,518,981 (GRCm39) probably null Het
Other mutations in Pdc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00436:Pdc APN 1 150,209,006 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-07-23