Incidental Mutation 'R6556:Pde6b'
ID 522149
Institutional Source Beutler Lab
Gene Symbol Pde6b
Ensembl Gene ENSMUSG00000029491
Gene Name phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
Synonyms rd, rd10, rd1, r, Pdeb
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6556 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 108536239-108579609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108569367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 358 (M358K)
Ref Sequence ENSEMBL: ENSMUSP00000031456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031456]
AlphaFold P23440
Predicted Effect possibly damaging
Transcript: ENSMUST00000031456
AA Change: M358K

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031456
Gene: ENSMUSG00000029491
AA Change: M358K

DomainStartEndE-ValueType
GAF 71 230 1.29e-27 SMART
GAF 252 439 5.76e-25 SMART
Blast:HDc 484 538 1e-24 BLAST
HDc 554 732 1.25e-9 SMART
Blast:HDc 757 792 8e-13 BLAST
low complexity region 813 837 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134865
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygotes for the rd1 mutation have severe retinal degeneration and vision loss. Rod cells are lost by 35 days of age; cone cells degenerate slower and some light sensitivity persists. Other allelic mutations produce similar or milder phenotypes. [provided by MGI curators]
Allele List at MGI

All alleles(13) : Targeted, knock-out(1) Targeted, other(1) Spontaneous(2) Chemically induced(9)

Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atosb C T 4: 43,033,896 (GRCm39) R460H probably damaging Het
Atp2a1 G T 7: 126,049,434 (GRCm39) P536Q probably benign Het
Bnip5 T A 17: 29,123,585 (GRCm39) D114V probably damaging Het
Cabyr T A 18: 12,884,073 (GRCm39) S187T probably benign Het
Camkk1 A T 11: 72,924,696 (GRCm39) N303I probably benign Het
Cdh13 C T 8: 119,694,926 (GRCm39) P259S probably damaging Het
Csnk1g3 A G 18: 54,063,354 (GRCm39) D255G possibly damaging Het
Dennd5b A C 6: 148,915,749 (GRCm39) probably null Het
Dnajc14 A G 10: 128,650,500 (GRCm39) D528G probably benign Het
Edem1 T C 6: 108,831,318 (GRCm39) F593S probably benign Het
Efcab3 A G 11: 104,899,077 (GRCm39) N4343S probably null Het
Erbb2 G A 11: 98,326,908 (GRCm39) D1106N possibly damaging Het
Ermp1 T C 19: 29,590,321 (GRCm39) M794V possibly damaging Het
Fip1l1 T A 5: 74,707,838 (GRCm39) probably null Het
Gm20730 C T 6: 43,058,476 (GRCm39) C112Y probably damaging Het
Gtf2h1 T A 7: 46,458,089 (GRCm39) C245S probably damaging Het
Hdhd5 T C 6: 120,500,515 (GRCm39) H61R probably benign Het
Ighv1-71 A T 12: 115,706,092 (GRCm39) V31E probably damaging Het
Igsf9b T C 9: 27,240,851 (GRCm39) F688S probably damaging Het
Iqcd T C 5: 120,740,443 (GRCm39) V258A probably damaging Het
Kcnc2 G C 10: 112,107,761 (GRCm39) G51R probably benign Het
Lpo G T 11: 87,708,589 (GRCm39) Y136* probably null Het
Med30 A G 15: 52,593,779 (GRCm39) probably benign Het
Mertk T A 2: 128,618,341 (GRCm39) V524D probably benign Het
Ndufb11b A G 15: 81,864,939 (GRCm39) D60G probably damaging Het
Or4c126 T A 2: 89,824,517 (GRCm39) F260Y probably benign Het
Or4c52 T C 2: 89,845,438 (GRCm39) Y55H probably damaging Het
Or5l13 T C 2: 87,780,320 (GRCm39) I86V probably benign Het
Prep GA G 10: 45,034,410 (GRCm39) probably null Het
Prpf4b G A 13: 35,080,015 (GRCm39) R793Q probably damaging Het
Rela T A 19: 5,697,366 (GRCm39) N524K probably damaging Het
Relch T A 1: 105,654,165 (GRCm39) F845I probably damaging Het
Rnaset2a T C 17: 8,360,480 (GRCm39) D74G probably damaging Het
Semp2l2a G A 8: 13,887,690 (GRCm39) Q134* probably null Het
Serinc2 T A 4: 130,152,064 (GRCm39) I267F probably damaging Het
Sesn3 T C 9: 14,232,549 (GRCm39) F274S possibly damaging Het
Spag1 T C 15: 36,195,553 (GRCm39) Y249H probably damaging Het
Sstr1 A T 12: 58,260,478 (GRCm39) D367V possibly damaging Het
Tasor T G 14: 27,151,215 (GRCm39) Y64D probably benign Het
Tnnt1 T C 7: 4,512,576 (GRCm39) E110G probably damaging Het
Tpm1 T A 9: 66,935,451 (GRCm39) probably null Het
Unc93b1 T C 19: 3,994,105 (GRCm39) V412A probably benign Het
Uox G C 3: 146,330,403 (GRCm39) probably null Het
Usp44 T C 10: 93,681,870 (GRCm39) Y107H probably benign Het
Other mutations in Pde6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Pde6b APN 5 108,574,437 (GRCm39) splice site probably benign
IGL01071:Pde6b APN 5 108,567,581 (GRCm39) nonsense probably null
IGL01335:Pde6b APN 5 108,571,379 (GRCm39) missense probably benign 0.03
IGL01611:Pde6b APN 5 108,551,262 (GRCm39) missense possibly damaging 0.90
IGL01881:Pde6b APN 5 108,569,366 (GRCm39) missense probably benign 0.01
IGL01941:Pde6b APN 5 108,570,902 (GRCm39) missense probably benign 0.11
IGL02616:Pde6b APN 5 108,579,407 (GRCm39) missense probably benign 0.05
IGL02657:Pde6b APN 5 108,568,142 (GRCm39) splice site probably benign
IGL03217:Pde6b APN 5 108,567,432 (GRCm39) missense probably damaging 1.00
Bemr28 UTSW 5 0 () unclassified
D4043:Pde6b UTSW 5 108,573,222 (GRCm39) nonsense probably null
N/A:Pde6b UTSW 5 108,576,969 (GRCm39) unclassified probably benign
PIT4362001:Pde6b UTSW 5 108,571,451 (GRCm39) critical splice donor site probably null
PIT4581001:Pde6b UTSW 5 108,576,374 (GRCm39) missense probably benign 0.01
R0940:Pde6b UTSW 5 108,568,203 (GRCm39) missense possibly damaging 0.95
R0963:Pde6b UTSW 5 108,578,534 (GRCm39) missense probably benign
R1738:Pde6b UTSW 5 108,578,425 (GRCm39) nonsense probably null
R1753:Pde6b UTSW 5 108,536,557 (GRCm39) nonsense probably null
R1801:Pde6b UTSW 5 108,575,713 (GRCm39) missense possibly damaging 0.51
R1913:Pde6b UTSW 5 108,575,056 (GRCm39) missense probably benign 0.05
R2131:Pde6b UTSW 5 108,576,069 (GRCm39) missense probably damaging 1.00
R2282:Pde6b UTSW 5 108,571,452 (GRCm39) splice site probably null
R3713:Pde6b UTSW 5 108,570,928 (GRCm39) missense probably damaging 1.00
R4385:Pde6b UTSW 5 108,575,508 (GRCm39) missense probably benign 0.08
R4562:Pde6b UTSW 5 108,551,234 (GRCm39) missense probably benign 0.23
R4582:Pde6b UTSW 5 108,573,097 (GRCm39) critical splice acceptor site probably null
R4939:Pde6b UTSW 5 108,569,363 (GRCm39) missense probably benign 0.01
R4950:Pde6b UTSW 5 108,578,569 (GRCm39) missense probably benign 0.16
R4972:Pde6b UTSW 5 108,573,130 (GRCm39) missense probably benign 0.00
R4983:Pde6b UTSW 5 108,573,196 (GRCm39) missense probably benign 0.21
R5056:Pde6b UTSW 5 108,571,357 (GRCm39) nonsense probably null
R5514:Pde6b UTSW 5 108,571,317 (GRCm39) missense probably benign 0.06
R5528:Pde6b UTSW 5 108,571,424 (GRCm39) missense probably benign 0.04
R5937:Pde6b UTSW 5 108,572,193 (GRCm39) missense probably benign 0.00
R6826:Pde6b UTSW 5 108,578,458 (GRCm39) nonsense probably null
R6884:Pde6b UTSW 5 108,536,574 (GRCm39) missense probably damaging 0.99
R7213:Pde6b UTSW 5 108,551,956 (GRCm39) missense probably damaging 1.00
R7444:Pde6b UTSW 5 108,575,008 (GRCm39) nonsense probably null
R7690:Pde6b UTSW 5 108,567,384 (GRCm39) missense probably damaging 1.00
R7909:Pde6b UTSW 5 108,551,288 (GRCm39) missense probably benign 0.01
R7937:Pde6b UTSW 5 108,567,639 (GRCm39) critical splice donor site probably null
R8049:Pde6b UTSW 5 108,573,118 (GRCm39) missense probably benign 0.04
R8087:Pde6b UTSW 5 108,536,328 (GRCm39) missense probably benign 0.00
R8698:Pde6b UTSW 5 108,576,105 (GRCm39) missense possibly damaging 0.87
R8822:Pde6b UTSW 5 108,551,328 (GRCm39) missense probably benign 0.00
R8985:Pde6b UTSW 5 108,578,503 (GRCm39) missense probably benign 0.02
R9016:Pde6b UTSW 5 108,536,592 (GRCm39) missense possibly damaging 0.88
R9292:Pde6b UTSW 5 108,536,751 (GRCm39) missense probably benign 0.00
R9323:Pde6b UTSW 5 108,551,298 (GRCm39) missense probably damaging 1.00
R9414:Pde6b UTSW 5 108,567,592 (GRCm39) missense possibly damaging 0.82
R9486:Pde6b UTSW 5 108,551,241 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ATATGTGCTAGCCTGCTACCTC -3'
(R):5'- CCCGGAAAGTCACTGAGATG -3'

Sequencing Primer
(F):5'- GTGCTAGCCTGCTACCTCCTATTAG -3'
(R):5'- CTAACTGATACTGGAGCTCACTGG -3'
Posted On 2018-06-06