Incidental Mutation 'IGL02657:Pde6b'
ID 302412
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02657
Quality Score
Status
Chromosome 5
Chromosomal Location 108536239-108579609 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 108568142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031456]
AlphaFold P23440
Predicted Effect probably benign
Transcript: ENSMUST00000031456
SMART Domains Protein: ENSMUSP00000031456
Gene: ENSMUSG00000029491

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,725,648 (GRCm39) V120M possibly damaging Het
Aldh1l1 T C 6: 90,567,776 (GRCm39) L680P probably damaging Het
Alox12 A T 11: 70,138,104 (GRCm39) D410E probably benign Het
Amt T A 9: 108,178,579 (GRCm39) V365E probably damaging Het
Ano9 A G 7: 140,687,353 (GRCm39) S321P probably damaging Het
Atp2c2 A T 8: 120,479,771 (GRCm39) I767F probably damaging Het
Bag1 A T 4: 40,936,643 (GRCm39) Y338N probably benign Het
Bcr T A 10: 74,990,796 (GRCm39) D767E probably benign Het
Chfr A T 5: 110,302,705 (GRCm39) Q350L probably damaging Het
Cops3 A T 11: 59,721,043 (GRCm39) L124H probably damaging Het
Ddx60 T C 8: 62,437,149 (GRCm39) Y988H probably benign Het
Dnajc2 A T 5: 21,975,479 (GRCm39) probably benign Het
Dym C T 18: 75,215,527 (GRCm39) Q238* probably null Het
Fbn1 A T 2: 125,193,945 (GRCm39) C1341S possibly damaging Het
Fryl G T 5: 73,212,203 (GRCm39) N2308K probably benign Het
Gbp2b G T 3: 142,309,873 (GRCm39) R221L probably damaging Het
Gpat2 A G 2: 127,269,251 (GRCm39) N8S probably benign Het
Gvin2 T C 7: 105,545,972 (GRCm39) K2360R probably damaging Het
Hycc2 A T 1: 58,574,561 (GRCm39) W327R probably damaging Het
Ift52 A G 2: 162,887,135 (GRCm39) D379G probably damaging Het
Inhbe C A 10: 127,186,645 (GRCm39) L178F probably damaging Het
Ipo5 T C 14: 121,181,212 (GRCm39) Y913H possibly damaging Het
Kif21b T A 1: 136,099,968 (GRCm39) D1507E possibly damaging Het
Lnx2 A G 5: 146,964,984 (GRCm39) V413A probably damaging Het
Lrrc40 C A 3: 157,742,410 (GRCm39) F16L probably damaging Het
Magi2 A G 5: 19,432,581 (GRCm39) K99E probably damaging Het
Me3 A G 7: 89,495,461 (GRCm39) I357M probably benign Het
Med30 A G 15: 52,582,761 (GRCm39) Y66C probably benign Het
Mief2 A T 11: 60,621,783 (GRCm39) S118C probably damaging Het
Mylip A G 13: 45,544,722 (GRCm39) S49G probably benign Het
Ncoa7 T A 10: 30,528,972 (GRCm39) D107V probably damaging Het
Nvl C A 1: 180,934,541 (GRCm39) V655F probably damaging Het
Olfml2b C T 1: 170,508,645 (GRCm39) T501I probably benign Het
Ormdl2 T C 10: 128,656,186 (GRCm39) I40V probably benign Het
Ralgapa1 A C 12: 55,720,292 (GRCm39) L1785W probably damaging Het
Rnf112 A T 11: 61,341,078 (GRCm39) probably null Het
Sema3c A T 5: 17,781,866 (GRCm39) M1L possibly damaging Het
Sema3c T A 5: 17,867,972 (GRCm39) Y128N probably damaging Het
Sema4b G A 7: 79,866,789 (GRCm39) G255D probably damaging Het
Setd1a C T 7: 127,394,997 (GRCm39) probably benign Het
Sirpb1a A C 3: 15,482,111 (GRCm39) S72R possibly damaging Het
Slu7 T A 11: 43,332,849 (GRCm39) probably null Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Suclg1 T A 6: 73,237,504 (GRCm39) V83E probably damaging Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Tap2 T C 17: 34,424,432 (GRCm39) V55A probably damaging Het
Tekt4 T C 17: 25,692,732 (GRCm39) I186T possibly damaging Het
Trpc6 C A 9: 8,643,602 (GRCm39) D462E possibly damaging Het
Ubqln3 T G 7: 103,791,170 (GRCm39) T307P probably damaging Het
Vmn1r64 A T 7: 5,886,727 (GRCm39) I272K probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfc3h1 A G 10: 115,247,859 (GRCm39) T1021A possibly damaging Het
Zfp512 A T 5: 31,628,501 (GRCm39) H159L probably damaging 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
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
R6556:Pde6b UTSW 5 108,569,367 (GRCm39) missense possibly damaging 0.56
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
Posted On 2015-04-16