Incidental Mutation 'IGL00896:Pde6a'
ID 29390
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde6a
Ensembl Gene ENSMUSG00000024575
Gene Name phosphodiesterase 6A, cGMP-specific, rod, alpha
Synonyms Pdea
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00896
Quality Score
Status
Chromosome 18
Chromosomal Location 61353387-61422995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61353864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 63 (D63G)
Ref Sequence ENSEMBL: ENSMUSP00000025468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025468]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000025468
AA Change: D63G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025468
Gene: ENSMUSG00000024575
AA Change: D63G

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
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 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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a A G 12: 113,509,030 (GRCm39) T468A possibly damaging Het
Ankrd35 A G 3: 96,591,592 (GRCm39) E626G probably damaging Het
Arhgef4 A G 1: 34,850,777 (GRCm39) Y1812C possibly damaging Het
Aurkc T C 7: 7,005,513 (GRCm39) Y260H possibly damaging Het
Bltp1 A G 3: 37,093,611 (GRCm39) T4352A probably benign Het
Cpb1 A G 3: 20,306,193 (GRCm39) V329A probably benign Het
Cyp2d11 G T 15: 82,275,275 (GRCm39) probably benign Het
Dnase1 G A 16: 3,857,076 (GRCm39) S28N probably benign Het
Drgx C T 14: 32,327,171 (GRCm39) probably benign Het
Evpl C A 11: 116,113,410 (GRCm39) E1427* probably null Het
Gimap6 T C 6: 48,679,394 (GRCm39) N214S probably benign Het
Htr1f A T 16: 64,746,469 (GRCm39) H274Q probably benign Het
Ipo9 A T 1: 135,327,797 (GRCm39) V538E probably damaging Het
Lmf2 T C 15: 89,237,539 (GRCm39) K308E probably benign Het
Mog T A 17: 37,328,377 (GRCm39) probably null Het
Myo19 T C 11: 84,800,324 (GRCm39) V903A probably benign Het
Myt1l A G 12: 29,876,885 (GRCm39) T179A unknown Het
Nckap1 C T 2: 80,411,297 (GRCm39) V5M possibly damaging Het
Or1e23 T C 11: 73,407,167 (GRCm39) N286S probably damaging Het
Or51l4 T C 7: 103,404,213 (GRCm39) D193G probably damaging Het
Or9a2 A T 6: 41,749,047 (GRCm39) L62Q probably damaging Het
Pcdhb5 T G 18: 37,455,838 (GRCm39) probably null Het
Pcm1 C A 8: 41,729,160 (GRCm39) Q711K possibly damaging Het
Piezo1 T C 8: 123,224,609 (GRCm39) M711V possibly damaging Het
Rev1 G A 1: 38,138,021 (GRCm39) T88I probably damaging Het
Sntg1 A T 1: 8,665,634 (GRCm39) probably null Het
Sult2a1 T A 7: 13,566,565 (GRCm39) T137S probably benign Het
Txndc15 G A 13: 55,873,488 (GRCm39) A283T probably damaging Het
Zswim8 A G 14: 20,766,069 (GRCm39) E785G probably damaging Het
Other mutations in Pde6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Pde6a APN 18 61,390,339 (GRCm39) missense probably damaging 1.00
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
R0968:Pde6a UTSW 18 61,386,809 (GRCm39) missense probably damaging 0.99
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
Posted On 2013-04-17