Incidental Mutation 'R2852:Pde6h'
ID 252305
Institutional Source Beutler Lab
Gene Symbol Pde6h
Ensembl Gene ENSMUSG00000064330
Gene Name phosphodiesterase 6H, cGMP-specific, cone, gamma
Synonyms PDEgamma, A930033D18Rik
MMRRC Submission 040445-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R2852 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 136929216-136940483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 136940206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 64 (C64Y)
Ref Sequence ENSEMBL: ENSMUSP00000145191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000137768] [ENSMUST00000204382] [ENSMUST00000204627]
AlphaFold P61249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000057650
Predicted Effect probably damaging
Transcript: ENSMUST00000137768
AA Change: C64Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119246
Gene: ENSMUSG00000064330
AA Change: C64Y

DomainStartEndE-ValueType
Pfam:PDE6_gamma 2 83 4.7e-52 PFAM
Predicted Effect silent
Transcript: ENSMUST00000204382
SMART Domains Protein: ENSMUSP00000145119
Gene: ENSMUSG00000064330

DomainStartEndE-ValueType
Pfam:PDE6_gamma 2 56 1.4e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204627
AA Change: C64Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145191
Gene: ENSMUSG00000064330
AA Change: C64Y

DomainStartEndE-ValueType
Pfam:PDE6_gamma 2 74 1.5e-41 PFAM
Meta Mutation Damage Score 0.8853 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous mutation of this gene does not affect the retina or photoreceptor function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 A C 1: 34,763,129 (GRCm39) D795A unknown Het
Bank1 A T 3: 135,948,701 (GRCm39) S159T possibly damaging Het
Catsperd A G 17: 56,967,169 (GRCm39) probably null Het
Cblc A G 7: 19,514,889 (GRCm39) probably null Het
Cfap54 T C 10: 92,776,017 (GRCm39) Y48C probably damaging Het
Chrng A G 1: 87,134,428 (GRCm39) I156M probably benign Het
Dennd5a A T 7: 109,532,878 (GRCm39) N297K probably damaging Het
Depdc5 A G 5: 33,081,515 (GRCm39) E559G probably damaging Het
Dnai4 A G 4: 102,953,858 (GRCm39) S114P probably benign Het
Dzip1 A C 14: 119,159,857 (GRCm39) M117R possibly damaging Het
Ednrb G T 14: 104,059,110 (GRCm39) S305R probably benign Het
Egflam A T 15: 7,249,182 (GRCm39) W879R probably damaging Het
Ehbp1l1 T A 19: 5,766,515 (GRCm39) D332V probably damaging Het
Far1 T C 7: 113,152,944 (GRCm39) Y351H possibly damaging Het
Glrp1 GTGCTGCTGCTGCTGCTGCTGCTGCTG GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 1: 88,430,997 (GRCm39) probably benign Het
Hspd1 A T 1: 55,120,256 (GRCm39) D315E probably damaging Het
Kap T C 6: 133,827,057 (GRCm39) K92E probably benign Het
Kcnv2 T C 19: 27,300,496 (GRCm39) Y116H probably benign Het
Krt82 T C 15: 101,456,870 (GRCm39) Y170C probably damaging Het
Krtap13 T C 16: 88,548,524 (GRCm39) probably benign Het
Man2a1 A G 17: 65,020,596 (GRCm39) K791E probably benign Het
Map4k4 T A 1: 40,039,915 (GRCm39) probably benign Het
Mdc1 T A 17: 36,159,902 (GRCm39) V670D probably benign Het
Mre11a A G 9: 14,737,843 (GRCm39) E599G probably benign Het
Mrln T C 10: 70,055,456 (GRCm39) I44T possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mycbp2 A T 14: 103,381,769 (GRCm39) F3724I probably damaging Het
Npsr1 A G 9: 24,221,301 (GRCm39) probably benign Het
Oosp3 T A 19: 11,676,896 (GRCm39) probably null Het
Pah T A 10: 87,403,327 (GRCm39) L131Q probably damaging Het
Pdzd7 C G 19: 45,016,113 (GRCm39) V1003L probably benign Het
Pilra T A 5: 137,834,342 (GRCm39) M14L probably benign Het
Prkdc T C 16: 15,470,416 (GRCm39) probably null Het
Rnf168 A G 16: 32,101,192 (GRCm39) E124G probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Spata1 A G 3: 146,193,295 (GRCm39) L96P possibly damaging Het
Stk11ip A G 1: 75,505,911 (GRCm39) probably benign Het
Stx5a T C 19: 8,732,476 (GRCm39) probably benign Het
Tek A G 4: 94,708,461 (GRCm39) T340A probably benign Het
Tmeff1 T A 4: 48,604,692 (GRCm39) probably null Het
Vmn2r85 T A 10: 130,255,035 (GRCm39) M550L probably benign Het
Zfp14 A G 7: 29,738,596 (GRCm39) Y130H probably benign Het
Zfp653 A T 9: 21,968,862 (GRCm39) D426E probably benign Het
Zfyve28 G A 5: 34,354,006 (GRCm39) P834L probably damaging Het
Zkscan16 A G 4: 58,957,364 (GRCm39) T549A possibly damaging Het
Other mutations in Pde6h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02488:Pde6h APN 6 136,940,264 (GRCm39) splice site probably null
IGL03121:Pde6h APN 6 136,936,280 (GRCm39) missense probably null
PIT4151001:Pde6h UTSW 6 136,938,185 (GRCm39) missense possibly damaging 0.48
R1065:Pde6h UTSW 6 136,936,368 (GRCm39) missense probably damaging 1.00
R2001:Pde6h UTSW 6 136,940,203 (GRCm39) missense probably damaging 0.99
R4052:Pde6h UTSW 6 136,936,266 (GRCm39) missense unknown
R4964:Pde6h UTSW 6 136,938,201 (GRCm39) missense possibly damaging 0.92
R4966:Pde6h UTSW 6 136,938,201 (GRCm39) missense possibly damaging 0.92
R7335:Pde6h UTSW 6 136,940,211 (GRCm39) missense probably damaging 1.00
R7629:Pde6h UTSW 6 136,936,317 (GRCm39) missense possibly damaging 0.68
R9351:Pde6h UTSW 6 136,936,332 (GRCm39) missense probably benign 0.01
R9444:Pde6h UTSW 6 136,936,359 (GRCm39) missense probably damaging 1.00
R9445:Pde6h UTSW 6 136,936,359 (GRCm39) missense probably damaging 1.00
R9708:Pde6h UTSW 6 136,936,359 (GRCm39) missense probably damaging 1.00
R9771:Pde6h UTSW 6 136,936,359 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTGCTTATTTACATCCTCCATGG -3'
(R):5'- GGACGACTTCAAAACAGCAG -3'

Sequencing Primer
(F):5'- TACATCCTCCATGGCTGTGGG -3'
(R):5'- TAACTCATGGGTCAGGGCCATATAC -3'
Posted On 2014-12-04