Incidental Mutation 'R9771:Pde6h'
ID 733444
Institutional Source Beutler Lab
Gene Symbol Pde6h
Ensembl Gene ENSMUSG00000064330
Gene Name phosphodiesterase 6H, cGMP-specific, cone, gamma
Synonyms PDEgamma, A930033D18Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R9771 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 136929216-136940483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 136936359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 34 (F34C)
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: F34C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119246
Gene: ENSMUSG00000064330
AA Change: F34C

DomainStartEndE-ValueType
Pfam:PDE6_gamma 2 83 4.7e-52 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000204382
AA Change: F34C
SMART Domains Protein: ENSMUSP00000145119
Gene: ENSMUSG00000064330
AA Change: F34C

DomainStartEndE-ValueType
Pfam:PDE6_gamma 2 56 1.4e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204627
AA Change: F34C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145191
Gene: ENSMUSG00000064330
AA Change: F34C

DomainStartEndE-ValueType
Pfam:PDE6_gamma 2 74 1.5e-41 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.4%
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A G 3: 146,356,743 (GRCm39) I55T possibly damaging Het
Aldh1l1 A G 6: 90,575,310 (GRCm39) T866A probably benign Het
Alg12 A T 15: 88,700,373 (GRCm39) V21E probably damaging Het
Bod1l C A 5: 41,949,206 (GRCm39) R2972L probably damaging Het
Card6 T A 15: 5,129,693 (GRCm39) I568F probably benign Het
Ccdc89 A G 7: 90,075,810 (GRCm39) T7A probably benign Het
Cep112 A G 11: 108,573,517 (GRCm39) probably benign Het
Dnmbp T C 19: 43,855,031 (GRCm39) I297M probably damaging Het
Dpysl2 T C 14: 67,066,833 (GRCm39) E200G probably damaging Het
Etl4 T C 2: 20,811,537 (GRCm39) S1575P probably benign Het
Gm18596 A C 10: 77,577,962 (GRCm39) S171A unknown Het
Gmip T A 8: 70,266,718 (GRCm39) C278S probably benign Het
Gngt2 G T 11: 95,728,124 (GRCm39) probably benign Het
Gnptab G A 10: 88,268,485 (GRCm39) D531N probably damaging Het
Iqgap3 C A 3: 88,016,176 (GRCm39) F986L probably damaging Het
Kcnh7 A G 2: 62,569,719 (GRCm39) C726R probably damaging Het
Map4k4 T C 1: 40,025,877 (GRCm39) I289T unknown Het
Ndufb10 T C 17: 24,943,158 (GRCm39) probably null Het
Ngef G A 1: 87,431,010 (GRCm39) P269L probably damaging Het
Nol11 C A 11: 107,069,914 (GRCm39) W312L probably damaging Het
Or11i1 A T 3: 106,729,060 (GRCm39) Y272N possibly damaging Het
Or1p1c G A 11: 74,160,635 (GRCm39) R140H probably benign Het
Osbpl10 G A 9: 114,896,356 (GRCm39) R30Q probably benign Het
Osbpl6 T C 2: 76,423,771 (GRCm39) L878P possibly damaging Het
Pkhd1l1 A G 15: 44,358,883 (GRCm39) H364R probably benign Het
Polr1f A G 12: 33,487,828 (GRCm39) T248A probably benign Het
Prss56 T C 1: 87,113,365 (GRCm39) I231T possibly damaging Het
Ptcd3 G A 6: 71,872,903 (GRCm39) R263* probably null Het
Ptprq T A 10: 107,521,085 (GRCm39) I696F probably damaging Het
Sdk1 A T 5: 142,082,624 (GRCm39) I1341F probably damaging Het
Sema3d A G 5: 12,613,207 (GRCm39) Y428C probably damaging Het
Sh3tc1 A C 5: 35,873,654 (GRCm39) F217C probably damaging Het
Sptb G A 12: 76,650,353 (GRCm39) T1788I probably damaging Het
Stard13 G A 5: 150,983,048 (GRCm39) P672L probably damaging Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Tada3 A C 6: 113,349,319 (GRCm39) S244A probably benign Het
Tnc T A 4: 63,925,600 (GRCm39) I979F probably damaging Het
Usp10 CAA CAAA 8: 120,658,620 (GRCm39) probably null Het
Vmn1r177 T C 7: 23,565,657 (GRCm39) N73S probably damaging Het
Vmn2r1 A G 3: 63,997,559 (GRCm39) E405G possibly damaging Het
Vmn2r2 T C 3: 64,042,079 (GRCm39) H212R possibly damaging Het
Wdfy3 A G 5: 102,000,195 (GRCm39) L3015P probably damaging Het
Wdr11 T C 7: 129,206,851 (GRCm39) S255P probably damaging Het
Ypel3 T C 7: 126,379,226 (GRCm39) Y100H probably 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
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
Predicted Primers PCR Primer
(F):5'- TCCGGTTTGCGTGTGTCAAC -3'
(R):5'- CCCAGGATTTACAAAGCAAGG -3'

Sequencing Primer
(F):5'- CAAGCTTCTGAGTTAGAGTGCTCC -3'
(R):5'- CCAGGATTTACAAAGCAAGGGATTTC -3'
Posted On 2022-11-14