Incidental Mutation 'R4052:Pde6h'
ID 314199
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 # R4052 ()
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 136929216-136940483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136936266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 3 (D3G)
Ref Sequence ENSEMBL: ENSMUSP00000145191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000137768] [ENSMUST00000204382] [ENSMUST00000204627]
AlphaFold P61249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000057650
Predicted Effect unknown
Transcript: ENSMUST00000137768
AA Change: D3G
SMART Domains Protein: ENSMUSP00000119246
Gene: ENSMUSG00000064330
AA Change: D3G

DomainStartEndE-ValueType
Pfam:PDE6_gamma 2 83 4.7e-52 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000204382
AA Change: D3G
SMART Domains Protein: ENSMUSP00000145119
Gene: ENSMUSG00000064330
AA Change: D3G

DomainStartEndE-ValueType
Pfam:PDE6_gamma 2 56 1.4e-18 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000204627
AA Change: D3G
SMART Domains Protein: ENSMUSP00000145191
Gene: ENSMUSG00000064330
AA Change: D3G

DomainStartEndE-ValueType
Pfam:PDE6_gamma 2 74 1.5e-41 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.5%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik T G 13: 119,624,738 (GRCm39) probably benign Het
Abca8b G A 11: 109,872,551 (GRCm39) Q17* probably null Het
Abcc6 A C 7: 45,635,987 (GRCm39) L1020R probably damaging Het
Ace2 A G X: 162,952,581 (GRCm39) I110V probably benign Het
Adam29 T C 8: 56,325,317 (GRCm39) Y379C probably damaging Het
Apol10a A T 15: 77,373,185 (GRCm39) I274L probably benign Het
BC005537 T A 13: 24,993,881 (GRCm39) F119I possibly damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cts3 T A 13: 61,716,535 (GRCm39) I34L probably benign Het
Cyp4a30b A G 4: 115,311,539 (GRCm39) D69G probably benign Het
Dclk2 A G 3: 86,738,129 (GRCm39) probably null Het
Dhx30 A G 9: 109,929,889 (GRCm39) V69A possibly damaging Het
Dis3 T G 14: 99,332,752 (GRCm39) I227L probably benign Het
Dock3 A G 9: 106,850,995 (GRCm39) S836P probably damaging Het
Efhc2 T C X: 17,096,789 (GRCm39) N186S possibly damaging Het
Erap1 A G 13: 74,823,459 (GRCm39) N831S probably benign Het
Gimap3 T A 6: 48,743,447 (GRCm39) T3S possibly damaging Het
Gpr82 C T X: 13,531,898 (GRCm39) P149S probably damaging Het
H3f3a C T 1: 180,630,703 (GRCm39) R117H probably benign Het
Hcn2 A C 10: 79,569,521 (GRCm39) probably null Het
Helz2 A G 2: 180,882,268 (GRCm39) L175P probably damaging Het
Il36b T C 2: 24,049,844 (GRCm39) F152L probably damaging Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Ldlrad3 C T 2: 101,783,507 (GRCm39) D240N probably damaging Het
Lef1 A G 3: 130,988,338 (GRCm39) N236D probably damaging Het
Macf1 A G 4: 123,365,810 (GRCm39) S1419P probably benign Het
Me2 T C 18: 73,924,156 (GRCm39) K352R probably benign Het
Ncapd3 T A 9: 27,000,679 (GRCm39) probably null Het
Or52n3 A G 7: 104,530,810 (GRCm39) T299A probably damaging Het
P2rx7 T C 5: 122,804,340 (GRCm39) F293S probably damaging Het
Pabpc1l T C 2: 163,885,533 (GRCm39) W429R probably benign Het
Parp14 T C 16: 35,678,771 (GRCm39) E399G probably benign Het
Pfkfb1 A T X: 149,405,184 (GRCm39) D208V possibly damaging Het
Rasgrp3 T C 17: 75,803,963 (GRCm39) F89L probably damaging Het
Rif1 A T 2: 51,988,483 (GRCm39) K741* probably null Het
Rnase4 A G 14: 51,342,462 (GRCm39) K62R probably benign Het
Rnf207 C A 4: 152,395,894 (GRCm39) Q533H probably benign Het
Slc24a2 A G 4: 87,145,442 (GRCm39) V204A probably damaging Het
Spry2 A T 14: 106,130,635 (GRCm39) C184S probably damaging Het
Sulf2 T C 2: 165,936,510 (GRCm39) Y152C probably damaging Het
Thrap3 G A 4: 126,070,012 (GRCm39) A625V probably damaging Het
Tmem39a T A 16: 38,406,650 (GRCm39) V329D probably damaging Het
Trav7-3 A G 14: 53,681,203 (GRCm39) T82A probably benign Het
Trim30b T A 7: 104,006,685 (GRCm39) Q57L possibly damaging Het
Uggt1 A G 1: 36,203,570 (GRCm39) V1020A probably damaging Het
Zfp941 T G 7: 140,392,340 (GRCm39) K340Q 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
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
R9771:Pde6h UTSW 6 136,936,359 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCTGGGATTCCATTCAGAGG -3'
(R):5'- AATACCGACAGGATGAGCTG -3'

Sequencing Primer
(F):5'- TATGTGCTGGGCAAACACTGTAC -3'
(R):5'- ACGGCTGAGTCTGCGTG -3'
Posted On 2015-04-30