Incidental Mutation 'R7362:Pde6g'
ID 571433
Institutional Source Beutler Lab
Gene Symbol Pde6g
Ensembl Gene ENSMUSG00000025386
Gene Name phosphodiesterase 6G, cGMP-specific, rod, gamma
Synonyms Pdeg
MMRRC Submission 045375-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R7362 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 120338433-120344326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120338950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 80 (E80G)
Ref Sequence ENSEMBL: ENSMUSP00000026452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026452] [ENSMUST00000044105]
AlphaFold P09174
Predicted Effect probably damaging
Transcript: ENSMUST00000026452
AA Change: E80G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026452
Gene: ENSMUSG00000025386
AA Change: E80G

DomainStartEndE-ValueType
Pfam:PDE6_gamma 6 87 6e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044105
SMART Domains Protein: ENSMUSP00000041883
Gene: ENSMUSG00000039691

DomainStartEndE-ValueType
Pfam:Tetraspannin 74 318 1.9e-42 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene have poorly developed photoreceptors that degenerate with age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 C T 8: 13,295,534 (GRCm39) R193K probably damaging Het
Aoc1 G T 6: 48,882,345 (GRCm39) V74L probably benign Het
Bfsp1 G C 2: 143,668,795 (GRCm39) P601A probably benign Het
Bicd1 A C 6: 149,385,591 (GRCm39) K108T probably benign Het
Btbd18 C T 2: 84,491,887 (GRCm39) Q23* probably null Het
Ccser1 A G 6: 61,787,864 (GRCm39) I227M unknown Het
Cd151 G A 7: 141,049,502 (GRCm39) V70I probably benign Het
Cdh10 A G 15: 18,899,780 (GRCm39) T36A probably benign Het
Crb2 A G 2: 37,680,211 (GRCm39) T380A probably benign Het
Csmd3 A C 15: 47,619,388 (GRCm39) S1829A possibly damaging Het
Dgat2 A T 7: 98,803,843 (GRCm39) H359Q probably damaging Het
Dhdds T C 4: 133,698,441 (GRCm39) T298A probably benign Het
Egfem1 A G 3: 29,206,069 (GRCm39) Q102R probably benign Het
Eps15 T A 4: 109,223,439 (GRCm39) probably null Het
Ern1 T A 11: 106,327,949 (GRCm39) D61V probably damaging Het
Fcamr G A 1: 130,741,760 (GRCm39) R511Q possibly damaging Het
Grhpr T C 4: 44,987,255 (GRCm39) V213A probably benign Het
Gsx2 A G 5: 75,236,765 (GRCm39) D115G possibly damaging Het
Hoxd3 A G 2: 74,574,563 (GRCm39) I70V possibly damaging Het
Inpp5a A G 7: 139,158,296 (GRCm39) I408V probably benign Het
Kansl3 A T 1: 36,383,208 (GRCm39) D759E possibly damaging Het
Lrrc37a T G 11: 103,348,335 (GRCm39) T2787P unknown Het
Mier3 G A 13: 111,841,783 (GRCm39) G115S possibly damaging Het
Mkln1 T C 6: 31,445,103 (GRCm39) I333T probably benign Het
Myt1 T A 2: 181,439,033 (GRCm39) V227D probably benign Het
Or1a1 T C 11: 74,086,412 (GRCm39) F28L probably benign Het
Or52s1 T A 7: 102,861,861 (GRCm39) Y265N probably damaging Het
Or7e171-ps1 C T 9: 19,853,527 (GRCm39) D70N probably damaging Het
Pcf11 A G 7: 92,302,453 (GRCm39) L1219P possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Ppp3cb T A 14: 20,573,719 (GRCm39) Q304L probably benign Het
Prr19 T C 7: 25,003,343 (GRCm39) L319P probably damaging Het
Prss23 C T 7: 89,158,972 (GRCm39) A366T probably damaging Het
Rock2 T C 12: 17,008,422 (GRCm39) L560P probably damaging Het
Simc1 A T 13: 54,687,517 (GRCm39) R95S probably damaging Het
Slc10a6 A T 5: 103,776,992 (GRCm39) V36E probably damaging Het
Slco1c1 A T 6: 141,515,189 (GRCm39) T695S probably benign Het
Spata31h1 T A 10: 82,128,831 (GRCm39) Q1393L possibly damaging Het
Ssh2 T C 11: 77,340,476 (GRCm39) F543L probably benign Het
Tecpr2 T A 12: 110,907,910 (GRCm39) V999D possibly damaging Het
Tnfsf10 A T 3: 27,389,497 (GRCm39) Y186F probably damaging Het
Tnk2 A T 16: 32,494,338 (GRCm39) probably null Het
Tram1 T C 1: 13,659,832 (GRCm39) M39V probably benign Het
Uck2 C T 1: 167,065,211 (GRCm39) V36I possibly damaging Het
Ugcg T A 4: 59,217,109 (GRCm39) M211K probably damaging Het
Vash2 A T 1: 190,692,496 (GRCm39) S226R probably damaging Het
Vmn1r172 T A 7: 23,359,841 (GRCm39) M242K probably damaging Het
Vmn2r82 A T 10: 79,232,451 (GRCm39) M817L probably benign Het
Vwa5b1 T C 4: 138,321,623 (GRCm39) N390S probably damaging Het
Wdr73 T A 7: 80,550,451 (GRCm39) D17V probably damaging Het
Wdr91 A T 6: 34,866,050 (GRCm39) S501T possibly damaging Het
Zfp454 A G 11: 50,777,194 (GRCm39) probably null Het
Other mutations in Pde6g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00796:Pde6g APN 11 120,341,390 (GRCm39) missense probably benign
R1959:Pde6g UTSW 11 120,338,962 (GRCm39) missense probably damaging 0.99
R5240:Pde6g UTSW 11 120,338,912 (GRCm39) unclassified probably benign
R5541:Pde6g UTSW 11 120,338,998 (GRCm39) missense probably damaging 0.98
R7867:Pde6g UTSW 11 120,338,953 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- CTGACCAGTGACTTCAGGTC -3'
(R):5'- ACCGTAGCCTAGACTCTCATC -3'

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