Incidental Mutation 'R6425:Pdc'
ID 518278
Institutional Source Beutler Lab
Gene Symbol Pdc
Ensembl Gene ENSMUSG00000006007
Gene Name phosducin
Synonyms Pdc, Rpr1, Rpr-1
MMRRC Submission 044564-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R6425 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 150195168-150209657 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 150209123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 202 (V202A)
Ref Sequence ENSEMBL: ENSMUSP00000141136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165062] [ENSMUST00000185698] [ENSMUST00000186572] [ENSMUST00000191228]
AlphaFold Q9QW08
Predicted Effect probably benign
Transcript: ENSMUST00000165062
AA Change: V202A

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131631
Gene: ENSMUSG00000006007
AA Change: V202A

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 benign
Transcript: ENSMUST00000186572
SMART Domains Protein: ENSMUSP00000140843
Gene: ENSMUSG00000006007

DomainStartEndE-ValueType
Pfam:Phosducin 1 185 1.6e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191228
AA Change: V202A

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141136
Gene: ENSMUSG00000006007
AA Change: V202A

DomainStartEndE-ValueType
Pfam:Phosducin 1 244 6.4e-130 PFAM
Meta Mutation Damage Score 0.3979 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (41/41)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,220,058 (GRCm39) T3A possibly damaging Het
Ash1l A G 3: 88,891,087 (GRCm39) T989A probably damaging Het
Atp6v0a2 T A 5: 124,790,194 (GRCm39) L459Q probably damaging Het
Atp6v0a4 A T 6: 38,027,446 (GRCm39) V788D possibly damaging Het
Auh G A 13: 52,995,080 (GRCm39) R162C probably damaging Het
Begain C A 12: 108,999,320 (GRCm39) G689C probably damaging Het
Brcc3dc A C 10: 108,535,757 (GRCm39) M66R possibly damaging Het
Cd300lg T C 11: 101,937,749 (GRCm39) F193S probably benign Het
Cenpf T G 1: 189,392,095 (GRCm39) N579T probably benign Het
Cfap65 T C 1: 74,966,868 (GRCm39) H273R probably benign Het
Col6a6 T C 9: 105,576,064 (GRCm39) T2099A probably benign Het
Dock1 A G 7: 134,765,110 (GRCm39) K1701E possibly damaging Het
Dtl T C 1: 191,278,735 (GRCm39) I376V probably benign Het
F830045P16Rik C A 2: 129,302,500 (GRCm39) C364F probably damaging Het
Fancl C T 11: 26,349,680 (GRCm39) L63F probably damaging Het
Gli2 A T 1: 118,763,624 (GRCm39) L1509* probably null Het
Glyr1 A T 16: 4,854,350 (GRCm39) probably null Het
Igkv6-32 A T 6: 70,051,284 (GRCm39) M24K probably damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Klhl18 T C 9: 110,275,749 (GRCm39) E133G possibly damaging Het
Lgals4 A T 7: 28,533,885 (GRCm39) K20* probably null Het
Myo9b A G 8: 71,786,272 (GRCm39) D646G probably damaging Het
Pcdhb3 T C 18: 37,435,528 (GRCm39) L498P possibly damaging Het
Pcdhgb4 T C 18: 37,854,640 (GRCm39) V345A possibly damaging Het
Pfas T C 11: 68,881,897 (GRCm39) I929M probably benign Het
Plxna1 G T 6: 89,311,647 (GRCm39) R953S probably benign Het
Pnpla5 T C 15: 84,006,836 (GRCm39) probably null Het
Psmd1 T C 1: 85,998,350 (GRCm39) probably null Het
Rbm47 C T 5: 66,180,159 (GRCm39) G452S probably damaging Het
Reln G A 5: 22,116,018 (GRCm39) Q2997* probably null Het
Rrn3 A G 16: 13,629,465 (GRCm39) T594A probably benign Het
Slc25a35 G A 11: 68,859,591 (GRCm39) A35T possibly damaging Het
Slc33a1 A G 3: 63,871,484 (GRCm39) V43A probably benign Het
Sorcs3 T C 19: 48,752,746 (GRCm39) probably null Het
Tbk1 A G 10: 121,399,867 (GRCm39) M319T probably benign Het
Tmem132c T A 5: 127,630,329 (GRCm39) M622K possibly damaging Het
Tshz1 A T 18: 84,033,688 (GRCm39) F240Y probably damaging Het
Ube2b A T 11: 51,882,244 (GRCm39) L73* probably null Het
Vipas39 A G 12: 87,288,063 (GRCm39) V449A probably damaging Het
Zfp870 T C 17: 33,102,045 (GRCm39) N429S possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TGCGATGCACTCAACAGCAG -3'
(R):5'- AGCCAGGCCCATATTTAGTGTTTG -3'

Sequencing Primer
(F):5'- TCAACAGCAGCTTAGCGTG -3'
(R):5'- TGGTCTGCTCTAGGTCAT -3'
Posted On 2018-05-24