Incidental Mutation 'R1795:Pde6a'
ID 202197
Institutional Source Beutler Lab
Gene Symbol Pde6a
Ensembl Gene ENSMUSG00000024575
Gene Name phosphodiesterase 6A, cGMP-specific, rod, alpha
Synonyms Pdea
MMRRC Submission 039825-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1795 (G1)
Quality Score 216
Status Not validated
Chromosome 18
Chromosomal Location 61353387-61422995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61390283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 502 (E502G)
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: E502G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025468
Gene: ENSMUSG00000024575
AA Change: E502G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000076842
SMART Domains Protein: ENSMUSP00000100598
Gene: ENSMUSG00000057244

DomainStartEndE-ValueType
Pfam:Ribosomal_S5 29 95 3.9e-30 PFAM
Pfam:Ribosomal_S5_C 112 185 1.9e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170335
SMART Domains Protein: ENSMUSP00000133092
Gene: ENSMUSG00000091957

DomainStartEndE-ValueType
low complexity region 6 53 N/A INTRINSIC
Pfam:Ribosomal_S5 102 166 5.7e-34 PFAM
Pfam:Ribosomal_S5_C 185 256 2.4e-30 PFAM
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.6%
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,941,792 (GRCm39) I1159T probably benign Het
Abcc1 T C 16: 14,283,001 (GRCm39) V1159A possibly damaging Het
Abcg5 A G 17: 84,981,007 (GRCm39) I194T probably damaging Het
Abtb2 A G 2: 103,397,369 (GRCm39) T100A probably benign Het
Adam4 C T 12: 81,468,068 (GRCm39) M184I probably benign Het
Afap1l2 T C 19: 56,916,841 (GRCm39) D155G probably damaging Het
Ahnak T C 19: 8,979,802 (GRCm39) V362A possibly damaging Het
Ak7 C T 12: 105,692,482 (GRCm39) R179* probably null Het
Akap8 C A 17: 32,534,451 (GRCm39) G332C probably damaging Het
Akr1e1 T A 13: 4,645,071 (GRCm39) Q204L probably damaging Het
Ankrd12 T C 17: 66,293,222 (GRCm39) E737G possibly damaging Het
Atrn A G 2: 130,814,208 (GRCm39) D718G probably benign Het
Bco2 A G 9: 50,452,469 (GRCm39) S200P possibly damaging Het
C030005K15Rik A T 10: 97,561,648 (GRCm39) S28T unknown Het
Cdc14a T A 3: 116,092,122 (GRCm39) Q356L possibly damaging Het
Cdk5rap3 A G 11: 96,799,654 (GRCm39) L387P probably damaging Het
Celsr1 A T 15: 85,914,524 (GRCm39) S1150T probably damaging Het
Cntfr A G 4: 41,670,841 (GRCm39) probably null Het
Cramp1 T C 17: 25,183,884 (GRCm39) N1244D probably damaging Het
Csmd3 G T 15: 47,721,316 (GRCm39) D1542E possibly damaging Het
Cyp4f17 A T 17: 32,736,943 (GRCm39) I92F probably benign Het
Dhx30 A T 9: 109,937,051 (GRCm39) probably null Het
Dlg1 T A 16: 31,561,965 (GRCm39) H120Q probably benign Het
Dmgdh A T 13: 93,843,207 (GRCm39) M348L probably benign Het
Dnmt3b G A 2: 153,525,559 (GRCm39) E741K possibly damaging Het
Dock3 T G 9: 106,902,534 (GRCm39) H292P probably damaging Het
Ercc6 T A 14: 32,238,985 (GRCm39) N24K probably benign Het
Esco2 T C 14: 66,064,726 (GRCm39) Q338R probably benign Het
Etl4 T C 2: 20,812,837 (GRCm39) probably null Het
Exoc7 A T 11: 116,183,347 (GRCm39) I498N probably damaging Het
Fap G A 2: 62,378,933 (GRCm39) S123L probably damaging Het
Foxn1 T C 11: 78,262,051 (GRCm39) E106G probably benign Het
Fscb T A 12: 64,521,175 (GRCm39) D97V probably damaging Het
Gabrg1 T C 5: 70,939,596 (GRCm39) T174A possibly damaging Het
Gan C T 8: 117,923,199 (GRCm39) A461V possibly damaging Het
Gbp2 T A 3: 142,336,284 (GRCm39) D211E possibly damaging Het
Gm10271 A T 10: 116,792,746 (GRCm39) Y47N unknown Het
Gm17333 G T 16: 77,649,711 (GRCm39) noncoding transcript Het
Gm1758 T A 16: 14,320,142 (GRCm39) noncoding transcript Het
Golga3 A G 5: 110,355,493 (GRCm39) K989R possibly damaging Het
Gucy2g C A 19: 55,187,973 (GRCm39) V1041F probably damaging Het
Guk1 A T 11: 59,077,639 (GRCm39) F25I probably benign Het
H2al1o C T X: 9,438,329 (GRCm39) E87K possibly damaging Het
Hemgn C A 4: 46,395,958 (GRCm39) C426F probably damaging Het
Hps3 A G 3: 20,066,859 (GRCm39) probably null Het
Il2rb A T 15: 78,368,187 (GRCm39) D287E probably damaging Het
Ino80 A T 2: 119,237,340 (GRCm39) V1123D probably damaging Het
Kdm2b A G 5: 123,122,523 (GRCm39) probably null Het
Kif21a A T 15: 90,856,930 (GRCm39) probably null Het
Klhl33 A T 14: 51,129,583 (GRCm39) N347K probably damaging Het
Krt1c A G 15: 101,724,861 (GRCm39) F250L possibly damaging Het
Krt82 T A 15: 101,451,819 (GRCm39) N332I possibly damaging Het
Lgi1 A G 19: 38,294,631 (GRCm39) I444V probably benign Het
Lmod1 G A 1: 135,252,862 (GRCm39) V39M probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Mex3d T C 10: 80,217,376 (GRCm39) T149A probably benign Het
Mideas A G 12: 84,205,748 (GRCm39) probably null Het
Mlxipl A C 5: 135,136,024 (GRCm39) D83A probably damaging Het
Mroh8 T A 2: 157,111,471 (GRCm39) E161V probably benign Het
Mroh9 G A 1: 162,884,347 (GRCm39) T397I probably damaging Het
Mtss1 T C 15: 58,930,249 (GRCm39) D32G possibly damaging Het
Mus81 T C 19: 5,533,504 (GRCm39) D495G probably benign Het
Neurod1 A C 2: 79,284,673 (GRCm39) S237A probably benign Het
Npas1 G A 7: 16,208,725 (GRCm39) R51C probably damaging Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
P2ry14 T C 3: 59,023,274 (GRCm39) N62S probably damaging Het
Pcdh15 A G 10: 74,460,087 (GRCm39) Y1308C probably damaging Het
Pcdhb14 A T 18: 37,582,588 (GRCm39) M565L probably benign Het
Pde8b A G 13: 95,178,527 (GRCm39) V566A probably benign Het
Phf11b G T 14: 59,565,554 (GRCm39) Q108K probably benign Het
Pikfyve T C 1: 65,291,716 (GRCm39) Y1312H probably damaging Het
Plcb3 T C 19: 6,933,381 (GRCm39) probably benign Het
Plxna2 G A 1: 194,488,611 (GRCm39) G1629D probably damaging Het
Plxnb1 T C 9: 108,929,813 (GRCm39) V223A probably benign Het
Prkca A T 11: 107,903,518 (GRCm39) Y285N possibly damaging Het
Prl2a1 A T 13: 27,992,554 (GRCm39) N226I probably damaging Het
Pus7 A C 5: 23,946,914 (GRCm39) M636R probably damaging Het
Samd9l G A 6: 3,375,264 (GRCm39) Q666* probably null Het
Sema3d A G 5: 12,634,854 (GRCm39) D640G probably benign Het
Slc6a15 A G 10: 103,236,121 (GRCm39) I279V probably benign Het
Slk T C 19: 47,608,973 (GRCm39) V642A possibly damaging Het
Spata31e2 C A 1: 26,722,070 (GRCm39) G1037* probably null Het
Spta1 T A 1: 174,073,296 (GRCm39) M2305K probably damaging Het
Srrt T C 5: 137,301,274 (GRCm39) probably benign Het
Stfa2l1 A T 16: 35,977,228 (GRCm39) I8L probably benign Het
Tap1 T C 17: 34,413,899 (GRCm39) L638P probably benign Het
Tbccd1 A T 16: 22,640,995 (GRCm39) L461M probably benign Het
Tecta T C 9: 42,289,345 (GRCm39) T407A probably benign Het
Tmbim7 T C 5: 3,707,493 (GRCm39) probably null Het
Tnrc18 C A 5: 142,800,869 (GRCm39) V30L probably benign Het
Tomm7 A G 5: 24,049,025 (GRCm39) F16S probably damaging Het
Ugt2a2 A G 5: 87,622,315 (GRCm39) S428P probably benign Het
Vmn1r189 T C 13: 22,286,324 (GRCm39) E171G probably benign Het
Vmn1r61 T C 7: 5,614,324 (GRCm39) probably benign Het
Vmn2r120 A T 17: 57,832,038 (GRCm39) S250R probably benign Het
Vmn2r8 T C 5: 108,950,972 (GRCm39) R158G probably benign Het
Vmn2r98 A T 17: 19,286,702 (GRCm39) Y400F probably damaging Het
Vps13c C A 9: 67,801,267 (GRCm39) Y582* probably null Het
Zfp518a T A 19: 40,904,000 (GRCm39) F1310I probably benign Het
Zswim1 A G 2: 164,667,320 (GRCm39) I191V probably benign 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
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'- TGTTTTGGGAACAGAAAACCAG -3'
(R):5'- CAAGTTCAAGACCAGGCTGC -3'

Sequencing Primer
(F):5'- CAAAGAGCCGTGGGAATGC -3'
(R):5'- ACCACATGCTGAGCTCTGAG -3'
Posted On 2014-06-23