Incidental Mutation 'IGL00796:Pde6g'
ID 12960
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde6g
Ensembl Gene ENSMUSG00000025386
Gene Name phosphodiesterase 6G, cGMP-specific, rod, gamma
Synonyms Pdeg
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # IGL00796
Quality Score
Status
Chromosome 11
Chromosomal Location 120338433-120344326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120341390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 17 (I17L)
Ref Sequence ENSEMBL: ENSMUSP00000026452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026452] [ENSMUST00000044105]
AlphaFold P09174
Predicted Effect probably benign
Transcript: ENSMUST00000026452
AA Change: I17L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026452
Gene: ENSMUSG00000025386
AA Change: I17L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141795
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155421
Coding Region Coverage
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh5 A G 3: 138,156,742 (GRCm39) T143A probably benign Het
Alk T A 17: 72,212,137 (GRCm39) N802I possibly damaging Het
Aspn A G 13: 49,710,893 (GRCm39) I179M probably damaging Het
Bptf A G 11: 106,945,376 (GRCm39) L2506P probably damaging Het
Cacna1f T A X: 7,497,270 (GRCm39) D1594E probably damaging Het
Chd7 T A 4: 8,847,271 (GRCm39) N1671K possibly damaging Het
Dnah7b T C 1: 46,250,497 (GRCm39) V1706A probably damaging Het
Elmo2 A T 2: 165,133,934 (GRCm39) probably benign Het
Ercc6 T C 14: 32,291,959 (GRCm39) S1108P probably benign Het
Fam53a A T 5: 33,758,171 (GRCm39) D317E probably benign Het
Gria2 T C 3: 80,618,097 (GRCm39) N313D probably benign Het
Itch A T 2: 155,051,002 (GRCm39) H563L probably damaging Het
Kdm1a G A 4: 136,281,558 (GRCm39) A651V probably damaging Het
Myb T G 10: 21,017,698 (GRCm39) Q631P probably benign Het
Myh9 A T 15: 77,681,195 (GRCm39) probably benign Het
Nars2 C A 7: 96,680,786 (GRCm39) L319I probably benign Het
Nars2 T A 7: 96,680,787 (GRCm39) L319Q probably benign Het
Pdcl2 G A 5: 76,467,022 (GRCm39) T57I probably damaging Het
Ppp1r9a T A 6: 5,157,014 (GRCm39) M964K probably benign Het
Ssxb2 A G X: 8,324,459 (GRCm39) probably benign Het
Tonsl T C 15: 76,509,349 (GRCm39) T8A probably benign Het
Zdbf2 T C 1: 63,346,364 (GRCm39) M1581T probably benign Het
Other mutations in Pde6g
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7362:Pde6g UTSW 11 120,338,950 (GRCm39) missense probably damaging 0.98
R7867:Pde6g UTSW 11 120,338,953 (GRCm39) missense possibly damaging 0.89
Posted On 2012-12-06