Incidental Mutation 'R0968:Pde6a'
ID 83966
Institutional Source Beutler Lab
Gene Symbol Pde6a
Ensembl Gene ENSMUSG00000024575
Gene Name phosphodiesterase 6A, cGMP-specific, rod, alpha
Synonyms Pdea
MMRRC Submission 039097-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0968 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 61353387-61422995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61386809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 395 (E395D)
Ref Sequence ENSEMBL: ENSMUSP00000025468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025468]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000025468
AA Change: E395D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025468
Gene: ENSMUSG00000024575
AA Change: E395D

DomainStartEndE-ValueType
GAF 73 232 1.36e-21 SMART
GAF 254 441 3.21e-23 SMART
low complexity region 478 495 N/A INTRINSIC
Blast:HDc 496 540 3e-11 BLAST
HDc 556 734 6.95e-8 SMART
Blast:HDc 759 786 1e-8 BLAST
low complexity region 817 837 N/A INTRINSIC
low complexity region 839 853 N/A INTRINSIC
Meta Mutation Damage Score 0.0847 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.0%
  • 20x: 96.7%
Validation Efficiency 94% (34/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice have retinal degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,772,967 (GRCm39) V719M probably damaging Het
Abca13 A G 11: 9,248,016 (GRCm39) S2588G probably benign Het
Acaca C T 11: 84,129,859 (GRCm39) Q405* probably null Het
Brms1l G A 12: 55,912,798 (GRCm39) D264N possibly damaging Het
Cabcoco1 T C 10: 68,272,202 (GRCm39) M254V probably benign Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Coro7 G C 16: 4,487,919 (GRCm39) probably benign Het
Cylc2 A G 4: 51,216,706 (GRCm39) M1V probably null Het
Cyp3a11 G A 5: 145,799,324 (GRCm39) probably benign Het
Dnah10 C T 5: 124,906,641 (GRCm39) T4224M probably damaging Het
Dnah2 T C 11: 69,339,345 (GRCm39) E3054G possibly damaging Het
Dnm3 A G 1: 161,847,388 (GRCm39) probably benign Het
Efcab5 G A 11: 77,031,749 (GRCm39) R42W probably damaging Het
Fgf12 T C 16: 27,981,185 (GRCm39) N177S probably null Het
Flt3 C T 5: 147,278,037 (GRCm39) V846I possibly damaging Het
Gm11569 A T 11: 99,689,250 (GRCm39) probably benign Het
Gm12695 A C 4: 96,650,303 (GRCm39) V181G probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Lars1 C A 18: 42,351,648 (GRCm39) R852L probably benign Het
Lca5 T C 9: 83,305,222 (GRCm39) T195A probably benign Het
Lrrc40 G A 3: 157,742,426 (GRCm39) D14N probably damaging Het
Map4k2 T C 19: 6,395,487 (GRCm39) S327P probably damaging Het
Mpp4 A G 1: 59,169,249 (GRCm39) F397L probably damaging Het
Mtus2 T C 5: 148,014,994 (GRCm39) S596P probably benign Het
Myo3a T A 2: 22,448,301 (GRCm39) N25K probably damaging Het
Nadsyn1 T C 7: 143,359,770 (GRCm39) T401A probably benign Het
Plekhm2 A G 4: 141,357,243 (GRCm39) V743A probably benign Het
Pzp A T 6: 128,502,108 (GRCm39) D80E probably benign Het
Rp1 A T 1: 4,415,575 (GRCm39) C1846S probably benign Het
Shbg A G 11: 69,508,014 (GRCm39) L117P probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc5a2 G C 7: 127,869,803 (GRCm39) R412P probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Supt20 A G 3: 54,615,821 (GRCm39) probably benign Het
Vcpip1 A T 1: 9,816,604 (GRCm39) I593N probably damaging Het
Other mutations in Pde6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Pde6a APN 18 61,390,339 (GRCm39) missense probably damaging 1.00
IGL00896:Pde6a APN 18 61,353,864 (GRCm39) missense possibly damaging 0.94
IGL01595:Pde6a APN 18 61,414,599 (GRCm39) missense probably damaging 0.98
IGL02971:Pde6a APN 18 61,397,326 (GRCm39) missense probably damaging 1.00
caffeinated UTSW 18 61,353,678 (GRCm39) start codon destroyed probably null 0.95
R0219:Pde6a UTSW 18 61,419,006 (GRCm39) missense possibly damaging 0.57
R1304:Pde6a UTSW 18 61,391,364 (GRCm39) missense probably damaging 0.99
R1498:Pde6a UTSW 18 61,365,932 (GRCm39) missense possibly damaging 0.73
R1542:Pde6a UTSW 18 61,390,116 (GRCm39) missense possibly damaging 0.93
R1734:Pde6a UTSW 18 61,419,036 (GRCm39) missense probably damaging 1.00
R1795:Pde6a UTSW 18 61,390,283 (GRCm39) missense probably damaging 1.00
R2173:Pde6a UTSW 18 61,387,453 (GRCm39) missense probably damaging 1.00
R2280:Pde6a UTSW 18 61,395,505 (GRCm39) missense probably damaging 1.00
R2281:Pde6a UTSW 18 61,395,505 (GRCm39) missense probably damaging 1.00
R3617:Pde6a UTSW 18 61,364,575 (GRCm39) splice site probably benign
R4620:Pde6a UTSW 18 61,395,563 (GRCm39) missense probably damaging 1.00
R4727:Pde6a UTSW 18 61,364,561 (GRCm39) missense probably benign 0.02
R4863:Pde6a UTSW 18 61,378,663 (GRCm39) missense probably damaging 1.00
R4904:Pde6a UTSW 18 61,398,105 (GRCm39) missense probably benign 0.08
R4945:Pde6a UTSW 18 61,367,790 (GRCm39) missense probably damaging 1.00
R4953:Pde6a UTSW 18 61,364,434 (GRCm39) nonsense probably null
R5323:Pde6a UTSW 18 61,365,983 (GRCm39) missense possibly damaging 0.81
R5496:Pde6a UTSW 18 61,386,736 (GRCm39) critical splice acceptor site probably null
R5540:Pde6a UTSW 18 61,364,438 (GRCm39) missense probably damaging 0.99
R6180:Pde6a UTSW 18 61,417,163 (GRCm39) splice site probably null
R6366:Pde6a UTSW 18 61,398,142 (GRCm39) splice site probably null
R6743:Pde6a UTSW 18 61,397,057 (GRCm39) missense possibly damaging 0.48
R7161:Pde6a UTSW 18 61,414,596 (GRCm39) missense probably benign 0.05
R7186:Pde6a UTSW 18 61,353,678 (GRCm39) start codon destroyed probably null 0.95
R7197:Pde6a UTSW 18 61,391,295 (GRCm39) missense probably damaging 0.96
R7296:Pde6a UTSW 18 61,391,364 (GRCm39) missense probably damaging 0.99
R7487:Pde6a UTSW 18 61,383,031 (GRCm39) missense probably damaging 1.00
R7734:Pde6a UTSW 18 61,365,938 (GRCm39) missense probably benign 0.10
R7818:Pde6a UTSW 18 61,414,580 (GRCm39) splice site probably null
R8104:Pde6a UTSW 18 61,364,566 (GRCm39) missense probably damaging 0.99
R8135:Pde6a UTSW 18 61,418,996 (GRCm39) missense probably damaging 0.98
R8213:Pde6a UTSW 18 61,353,768 (GRCm39) missense possibly damaging 0.94
R8266:Pde6a UTSW 18 61,391,284 (GRCm39) missense probably damaging 1.00
R8429:Pde6a UTSW 18 61,365,916 (GRCm39) missense probably damaging 0.98
R8472:Pde6a UTSW 18 61,354,018 (GRCm39) missense probably damaging 1.00
R8805:Pde6a UTSW 18 61,390,104 (GRCm39) missense probably benign 0.13
R8882:Pde6a UTSW 18 61,378,619 (GRCm39) missense
R9002:Pde6a UTSW 18 61,419,060 (GRCm39) missense probably damaging 1.00
R9015:Pde6a UTSW 18 61,397,047 (GRCm39) missense probably damaging 0.99
R9338:Pde6a UTSW 18 61,354,109 (GRCm39) missense probably damaging 1.00
R9353:Pde6a UTSW 18 61,390,382 (GRCm39) missense probably damaging 1.00
R9446:Pde6a UTSW 18 61,419,067 (GRCm39) missense probably benign 0.00
R9458:Pde6a UTSW 18 61,387,477 (GRCm39) missense probably damaging 1.00
RF018:Pde6a UTSW 18 61,364,475 (GRCm39) missense possibly damaging 0.84
X0064:Pde6a UTSW 18 61,398,019 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TGTTGGCAGCTAAACCCACACAAG -3'
(R):5'- TCAGGCAGCTACACACTGGGAAAC -3'

Sequencing Primer
(F):5'- CACAAGAGTCAAGTTCTGGCTTC -3'
(R):5'- CACCATGCAGCTCTGAAGG -3'
Posted On 2013-11-08