Incidental Mutation 'R7335:Pde6h'
ID 569432
Institutional Source Beutler Lab
Gene Symbol Pde6h
Ensembl Gene ENSMUSG00000064330
Gene Name phosphodiesterase 6H, cGMP-specific, cone, gamma
Synonyms PDEgamma, A930033D18Rik
MMRRC Submission 045372-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R7335 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 136929216-136940483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136940211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 66 (W66R)
Ref Sequence ENSEMBL: ENSMUSP00000119246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000137768] [ENSMUST00000204382] [ENSMUST00000204627]
AlphaFold P61249
Predicted Effect probably damaging
Transcript: ENSMUST00000137768
AA Change: W66R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119246
Gene: ENSMUSG00000064330
AA Change: W66R

DomainStartEndE-ValueType
Pfam:PDE6_gamma 2 83 4.7e-52 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000204382
AA Change: L52P
SMART Domains Protein: ENSMUSP00000145119
Gene: ENSMUSG00000064330
AA Change: L52P

DomainStartEndE-ValueType
Pfam:PDE6_gamma 2 56 1.4e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204627
AA Change: W66R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145191
Gene: ENSMUSG00000064330
AA Change: W66R

DomainStartEndE-ValueType
Pfam:PDE6_gamma 2 74 1.5e-41 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (56/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,493,093 (GRCm39) S35G probably benign Het
Adcy6 G T 15: 98,501,757 (GRCm39) Q286K probably benign Het
Agrn A G 4: 156,260,989 (GRCm39) S676P probably damaging Het
Arpp21 A T 9: 112,005,319 (GRCm39) probably null Het
Bmal2 A G 6: 146,711,217 (GRCm39) M74V probably benign Het
C1rb A T 6: 124,552,238 (GRCm39) I319F possibly damaging Het
C2cd3 T C 7: 100,071,810 (GRCm39) V629A Het
Cacna1i T G 15: 80,259,776 (GRCm39) F1287C probably damaging Het
Catspere2 A G 1: 177,926,074 (GRCm39) I247V probably benign Het
Cd101 C G 3: 100,926,045 (GRCm39) A229P probably benign Het
Cdh23 T C 10: 60,140,895 (GRCm39) D3151G probably damaging Het
Cenpc1 C A 5: 86,182,212 (GRCm39) K557N possibly damaging Het
Col6a4 G A 9: 105,954,091 (GRCm39) T416M possibly damaging Het
Cyp2c67 A T 19: 39,628,451 (GRCm39) C164* probably null Het
Dop1b A G 16: 93,544,396 (GRCm39) E179G probably benign Het
Duoxa2 A T 2: 122,131,821 (GRCm39) Y170F possibly damaging Het
Fras1 A G 5: 96,884,829 (GRCm39) K2569R possibly damaging Het
Fsip2 C A 2: 82,813,462 (GRCm39) H3260Q probably benign Het
Gm3402 T C 5: 146,452,043 (GRCm39) I121T probably benign Het
Herc3 T A 6: 58,853,773 (GRCm39) H606Q possibly damaging Het
Hmcn2 T C 2: 31,282,169 (GRCm39) V1927A possibly damaging Het
Hnf4g A G 3: 3,717,924 (GRCm39) H347R possibly damaging Het
Hs3st3a1 A G 11: 64,411,163 (GRCm39) T234A probably benign Het
Hyal1 G T 9: 107,456,359 (GRCm39) V379L probably benign Het
Ighv1-19 A G 12: 114,672,571 (GRCm39) probably benign Het
Iqcc T A 4: 129,510,501 (GRCm39) Q338L not run Het
Kdm5b T C 1: 134,488,177 (GRCm39) V34A probably damaging Het
Lgals4 T C 7: 28,540,571 (GRCm39) F225L probably benign Het
Lmtk3 C T 7: 45,444,581 (GRCm39) T1088I unknown Het
Magel2 A T 7: 62,030,524 (GRCm39) S1143C unknown Het
Mapk4 A T 18: 74,070,338 (GRCm39) L185Q possibly damaging Het
Mtcl2 T C 2: 156,872,925 (GRCm39) Q862R possibly damaging Het
Ncam1 A G 9: 49,418,211 (GRCm39) S1030P Het
Nynrin A T 14: 56,101,371 (GRCm39) T347S probably benign Het
Pak5 T C 2: 135,940,219 (GRCm39) T532A probably damaging Het
Pcdhb15 A G 18: 37,607,389 (GRCm39) E207G probably damaging Het
Pmaip1 T C 18: 66,591,885 (GRCm39) probably null Het
Prkd3 A G 17: 79,261,995 (GRCm39) F774S probably damaging Het
Prox1 T A 1: 189,894,042 (GRCm39) R134S possibly damaging Het
Ptpn22 T A 3: 103,793,335 (GRCm39) H495Q probably damaging Het
Ptprj G T 2: 90,271,126 (GRCm39) Q1201K probably benign Het
Rp1l1 A G 14: 64,269,447 (GRCm39) S1678G probably benign Het
Sez6l G T 5: 112,724,678 (GRCm39) probably null Het
Sgcg T A 14: 61,477,816 (GRCm39) Y91F probably damaging Het
Skint2 C T 4: 112,481,415 (GRCm39) L93F probably damaging Het
Slc22a22 A T 15: 57,126,771 (GRCm39) D99E probably benign Het
Slco3a1 A G 7: 73,934,090 (GRCm39) I694T probably damaging Het
Smurf2 A T 11: 106,736,911 (GRCm39) I305N possibly damaging Het
Stac3 T A 10: 127,340,769 (GRCm39) V178D probably benign Het
Suclg2 G A 6: 95,543,444 (GRCm39) A329V probably damaging Het
Suclg2 T A 6: 95,543,441 (GRCm39) N330I probably damaging Het
Tas2r118 C T 6: 23,969,749 (GRCm39) C104Y probably damaging Het
Tom1l2 T G 11: 60,135,991 (GRCm39) E327D probably benign Het
Trit1 T C 4: 122,910,572 (GRCm39) M57T possibly damaging Het
Vav1 G A 17: 57,603,720 (GRCm39) S134N probably benign Het
Vmn2r82 T C 10: 79,214,722 (GRCm39) L235P probably damaging Het
Zfp735 T A 11: 73,602,379 (GRCm39) V441E 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
R2852:Pde6h UTSW 6 136,940,206 (GRCm39) missense probably damaging 1.00
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
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'- TTTACATCCTCCATGGCTGTGG -3'
(R):5'- TGGACGACTTCAAAACAGCAG -3'

Sequencing Primer
(F):5'- TCCATGGCTGTGGGGTCC -3'
(R):5'- TAACTCATGGGTCAGGGCCATATAC -3'
Posted On 2019-09-13