Incidental Mutation 'R7629:Pde6h'
ID 589544
Institutional Source Beutler Lab
Gene Symbol Pde6h
Ensembl Gene ENSMUSG00000064330
Gene Name phosphodiesterase 6H, cGMP-specific, cone, gamma
Synonyms PDEgamma, A930033D18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R7629 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 136929216-136940483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 136936317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 20 (R20L)
Ref Sequence ENSEMBL: ENSMUSP00000119246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000137768] [ENSMUST00000204382] [ENSMUST00000204627]
AlphaFold P61249
Predicted Effect possibly damaging
Transcript: ENSMUST00000137768
AA Change: R20L

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119246
Gene: ENSMUSG00000064330
AA Change: R20L

DomainStartEndE-ValueType
Pfam:PDE6_gamma 2 83 4.7e-52 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000204382
AA Change: R20L
SMART Domains Protein: ENSMUSP00000145119
Gene: ENSMUSG00000064330
AA Change: R20L

DomainStartEndE-ValueType
Pfam:PDE6_gamma 2 56 1.4e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000204627
AA Change: R20L

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000145191
Gene: ENSMUSG00000064330
AA Change: R20L

DomainStartEndE-ValueType
Pfam:PDE6_gamma 2 74 1.5e-41 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik G A 16: 88,504,293 (GRCm39) T168I probably benign Het
Abtb2 T A 2: 103,513,838 (GRCm39) probably null Het
Ankrd10 A T 8: 11,665,769 (GRCm39) V277E probably benign Het
Ankrd28 C T 14: 31,437,221 (GRCm39) V615I probably benign Het
Aqr G A 2: 113,945,074 (GRCm39) P1079L probably damaging Het
Brox G A 1: 183,074,068 (GRCm39) A60V probably damaging Het
Copg1 T C 6: 87,871,151 (GRCm39) V289A possibly damaging Het
Cplane1 C T 15: 8,256,551 (GRCm39) Q2004* probably null Het
Dido1 T C 2: 180,303,266 (GRCm39) N1546S probably benign Het
Dlg5 G A 14: 24,295,280 (GRCm39) P80L probably damaging Het
Dmxl1 T A 18: 49,992,337 (GRCm39) I361N probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fhod3 T A 18: 24,887,374 (GRCm39) D88E probably benign Het
Flywch1 A G 17: 23,974,744 (GRCm39) M632T probably benign Het
Henmt1 A G 3: 108,865,913 (GRCm39) T213A probably benign Het
Itga9 T C 9: 118,527,514 (GRCm39) V555A probably benign Het
Katnip T C 7: 125,394,422 (GRCm39) L192P probably damaging Het
Kif13b C T 14: 65,016,784 (GRCm39) R1317* probably null Het
Kndc1 A T 7: 139,475,176 (GRCm39) E25V probably damaging Het
Lingo2 T A 4: 35,708,675 (GRCm39) D435V possibly damaging Het
Lrrc14b T A 13: 74,509,283 (GRCm39) M375L probably benign Het
Lrrtm2 T C 18: 35,347,310 (GRCm39) probably null Het
Mgat4c G A 10: 102,224,931 (GRCm39) V382I probably benign Het
Muc16 T C 9: 18,478,081 (GRCm39) T7075A possibly damaging Het
Myo5b T A 18: 74,760,325 (GRCm39) probably null Het
Neb T C 2: 52,163,973 (GRCm39) D1995G possibly damaging Het
Nudt9 T C 5: 104,198,560 (GRCm39) V75A possibly damaging Het
Or4k35 C T 2: 111,100,221 (GRCm39) V164I probably benign Het
Paf1 T C 7: 28,094,493 (GRCm39) Y35H probably damaging Het
Pals2 T C 6: 50,173,603 (GRCm39) I489T probably benign Het
Panx3 T A 9: 37,572,740 (GRCm39) Q270L possibly damaging Het
Pdxk A G 10: 78,280,840 (GRCm39) I200T probably benign Het
Ppara A T 15: 85,682,392 (GRCm39) M363L probably damaging Het
Prmt8 A T 6: 127,666,846 (GRCm39) L376* probably null Het
Serpina1a G C 12: 103,820,067 (GRCm39) T393R probably damaging Het
Sfxn1 C T 13: 54,247,041 (GRCm39) R178C probably damaging Het
Sirpb1c A T 3: 15,902,559 (GRCm39) W7R possibly damaging Het
Skint5 T C 4: 113,799,857 (GRCm39) Y104C probably damaging Het
Slamf6 A T 1: 171,764,191 (GRCm39) T195S probably damaging Het
Slc2a6 T C 2: 26,914,214 (GRCm39) D301G probably benign Het
Stab2 A T 10: 86,719,646 (GRCm39) probably null Het
Tctn3 C G 19: 40,599,780 (GRCm39) D141H probably damaging Het
Tnik A G 3: 28,715,877 (GRCm39) N1164D probably damaging Het
Tpcn1 C T 5: 120,676,002 (GRCm39) V711I probably benign Het
Trim11 G A 11: 58,869,160 (GRCm39) G32D probably damaging Het
Usp32 TTTGGTTG TTTG 11: 84,910,681 (GRCm39) probably null Het
Vmn1r72 T C 7: 11,403,711 (GRCm39) I246V probably benign Het
Zfp362 G T 4: 128,679,848 (GRCm39) R273S probably damaging Het
Zfp715 T C 7: 42,951,100 (GRCm39) D66G possibly damaging Het
Zftraf1 C T 15: 76,532,386 (GRCm39) D241N probably benign 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
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'- ACAATAACTTCTCCGGTTTGCG -3'
(R):5'- GGATTTCAGGAATACCGACAGG -3'

Sequencing Primer
(F):5'- CTCCGGTTTGCGTGTGTCAAC -3'
(R):5'- TTTCAGGAATACCGACAGGATGAGC -3'
Posted On 2019-10-24