Incidental Mutation 'R5540:Pde6a'
ID 435932
Institutional Source Beutler Lab
Gene Symbol Pde6a
Ensembl Gene ENSMUSG00000024575
Gene Name phosphodiesterase 6A, cGMP-specific, rod, alpha
Synonyms Pdea
MMRRC Submission 043098-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5540 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 61353387-61422995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 61364438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 165 (F165V)
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: F165V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025468
Gene: ENSMUSG00000024575
AA Change: F165V

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik A G 7: 44,012,371 (GRCm39) S15P probably damaging Het
Actl7a A T 4: 56,744,388 (GRCm39) H305L probably benign Het
Adam26b C A 8: 43,974,654 (GRCm39) C116F probably damaging Het
Adgrl2 A G 3: 148,543,198 (GRCm39) probably null Het
Akr1b10 A G 6: 34,371,047 (GRCm39) T238A probably damaging Het
Akr1c18 A G 13: 4,187,178 (GRCm39) V186A probably benign Het
Alpk3 G A 7: 80,745,184 (GRCm39) V1311M probably damaging Het
Aox1 A G 1: 58,143,569 (GRCm39) N1229S probably benign Het
Apobec3 T A 15: 79,782,120 (GRCm39) N43K probably benign Het
Arid1a A C 4: 133,407,765 (GRCm39) D2247E unknown Het
Asph A G 4: 9,635,906 (GRCm39) L77S probably damaging Het
Cd300ld T A 11: 114,878,231 (GRCm39) T94S probably damaging Het
Celf2 T C 2: 6,558,743 (GRCm39) T382A probably benign Het
Cfap54 C T 10: 92,808,470 (GRCm39) A1402T possibly damaging Het
Chrnb1 A T 11: 69,686,476 (GRCm39) V48E probably benign Het
Col6a5 T A 9: 105,739,975 (GRCm39) E2548V probably benign Het
Crebrf A G 17: 26,961,071 (GRCm39) D56G possibly damaging Het
Dctn5 A G 7: 121,734,275 (GRCm39) T40A probably benign Het
Dmxl2 A T 9: 54,301,141 (GRCm39) N2323K probably benign Het
Dync1h1 A G 12: 110,627,384 (GRCm39) Q4021R probably benign Het
Dyrk1a T G 16: 94,486,202 (GRCm39) probably null Het
Ephb3 T A 16: 21,039,610 (GRCm39) F454Y probably damaging Het
Fbxo38 A G 18: 62,647,864 (GRCm39) probably null Het
Flg T C 3: 93,184,923 (GRCm39) F15S probably damaging Het
Fndc3b G A 3: 27,555,651 (GRCm39) P301L probably damaging Het
Fpr-rs7 C T 17: 20,334,356 (GRCm39) G45R probably damaging Het
Garin3 A G 11: 46,295,715 (GRCm39) N29S probably damaging Het
Gfi1 T A 5: 107,867,991 (GRCm39) T360S probably damaging Het
Grik4 T C 9: 42,432,243 (GRCm39) H918R probably damaging Het
Hpx A G 7: 105,241,119 (GRCm39) S385P possibly damaging Het
Kdm5b A G 1: 134,558,979 (GRCm39) D1501G probably damaging Het
Kif20b A T 19: 34,915,860 (GRCm39) M546L probably benign Het
Map3k9 G T 12: 81,819,587 (GRCm39) N222K probably damaging Het
Me1 A G 9: 86,561,926 (GRCm39) L53P possibly damaging Het
Mis18bp1 T C 12: 65,195,520 (GRCm39) E748G possibly damaging Het
Morc3 T A 16: 93,644,268 (GRCm39) N186K probably benign Het
Mtor A G 4: 148,539,165 (GRCm39) T221A probably benign Het
Muc6 A G 7: 141,235,850 (GRCm39) probably null Het
Myh8 C A 11: 67,177,266 (GRCm39) T444N probably benign Het
Myo7b A G 18: 32,140,143 (GRCm39) Y216H probably damaging Het
Myom1 G A 17: 71,416,782 (GRCm39) V1382M probably damaging Het
Nbeal2 A T 9: 110,460,801 (GRCm39) Y1718N probably damaging Het
Npc1l1 A G 11: 6,164,546 (GRCm39) S1168P probably damaging Het
Or4c58 A G 2: 89,675,011 (GRCm39) F102S probably damaging Het
Or4d2 T A 11: 87,784,511 (GRCm39) K80* probably null Het
Or51f5 C T 7: 102,424,136 (GRCm39) A135V probably benign Het
Or5an9 T A 19: 12,187,824 (GRCm39) I298N probably damaging Het
Or6c8b G T 10: 128,882,364 (GRCm39) D189E probably damaging Het
Pcdha4 C A 18: 37,087,890 (GRCm39) A691E probably benign Het
Ptpn14 A T 1: 189,578,561 (GRCm39) M340L probably benign Het
Rnasel G T 1: 153,630,890 (GRCm39) E469* probably null Het
Rsph3a T G 17: 8,164,790 (GRCm39) L50R probably benign Het
Rusc2 A G 4: 43,423,975 (GRCm39) Y1043C probably damaging Het
Serpinb6b A T 13: 33,161,541 (GRCm39) K86* probably null Het
Serpine1 T C 5: 137,092,063 (GRCm39) T392A probably benign Het
Shcbp1 A T 8: 4,794,529 (GRCm39) D421E probably damaging Het
Slc24a1 A G 9: 64,855,863 (GRCm39) V348A unknown Het
Slc26a7 A G 4: 14,506,621 (GRCm39) F605L probably benign Het
Slc66a1 A T 4: 139,027,655 (GRCm39) L229Q probably damaging Het
Spag17 A C 3: 99,963,588 (GRCm39) E1102A possibly damaging Het
Stab2 A G 10: 86,683,989 (GRCm39) V2390A probably benign Het
Stk11 A G 10: 79,961,883 (GRCm39) I35V probably benign Het
Stk24 T C 14: 121,531,693 (GRCm39) D321G possibly damaging Het
Tbx4 A T 11: 85,801,994 (GRCm39) N209I possibly damaging Het
Tmem225 T C 9: 40,060,681 (GRCm39) L80P probably damaging Het
Tnfrsf4 C T 4: 156,098,380 (GRCm39) T17I probably benign Het
Traf3ip1 G A 1: 91,429,037 (GRCm39) R268Q probably benign Het
Trhde T A 10: 114,636,497 (GRCm39) I237F probably benign Het
Ugt2a1 A T 5: 87,633,915 (GRCm39) W231R probably damaging Het
Vash1 ACTGCTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGC 12: 86,726,831 (GRCm39) probably benign Het
Vps16 T A 2: 130,284,305 (GRCm39) D685E probably benign Het
Washc4 A G 10: 83,409,657 (GRCm39) D602G probably damaging Het
Wdr59 A G 8: 112,211,816 (GRCm39) L377P possibly damaging Het
Wdr81 T C 11: 75,339,896 (GRCm39) E1364G 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
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
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'- AATGGATGCTGGAGGTGTAC -3'
(R):5'- TTTGGGAAAACTAAAGCCAAGC -3'

Sequencing Primer
(F):5'- TGTACGTGGTCGCCTCAG -3'
(R):5'- CCAAATAGCAAGGTTGGAGAATTCC -3'
Posted On 2016-10-24