Incidental Mutation 'IGL01611:Pde6b'
ID 92087
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 # IGL01611
Quality Score
Status
Chromosome 5
Chromosomal Location 108536239-108579609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108551262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 182 (N182S)
Ref Sequence ENSEMBL: ENSMUSP00000031456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031456]
AlphaFold P23440
Predicted Effect possibly damaging
Transcript: ENSMUST00000031456
AA Change: N182S

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031456
Gene: ENSMUSG00000029491
AA Change: N182S

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,954,644 (GRCm39) L209S possibly damaging Het
Abcc2 G T 19: 43,815,068 (GRCm39) V1152F probably damaging Het
Adam9 C T 8: 25,457,212 (GRCm39) V639I probably benign Het
Cdc6 A G 11: 98,805,989 (GRCm39) I388V probably benign Het
Chrm5 C T 2: 112,310,651 (GRCm39) W155* probably null Het
Chrna9 A G 5: 66,128,287 (GRCm39) D161G probably damaging Het
Det1 A G 7: 78,477,702 (GRCm39) V541A possibly damaging Het
Efhc1 G T 1: 21,060,911 (GRCm39) *649L probably null Het
Ehbp1 C T 11: 22,122,883 (GRCm39) V146M probably damaging Het
Enam A C 5: 88,651,608 (GRCm39) D1039A probably damaging Het
Fam20b A T 1: 156,530,035 (GRCm39) V133E probably benign Het
Frem2 T A 3: 53,563,130 (GRCm39) Q459L probably benign Het
Gapdhs C T 7: 30,429,866 (GRCm39) probably benign Het
Gm3404 T A 5: 146,465,157 (GRCm39) V299D possibly damaging Het
Gorasp2 C A 2: 70,519,604 (GRCm39) H310N possibly damaging Het
Gpr157 T C 4: 150,186,094 (GRCm39) S219P possibly damaging Het
Gpt2 T A 8: 86,246,167 (GRCm39) C375* probably null Het
Gtf2h3 T C 5: 124,733,748 (GRCm39) S274P probably damaging Het
Hmg20b C T 10: 81,183,309 (GRCm39) V83M probably benign Het
Igf2r G T 17: 12,944,302 (GRCm39) Y400* probably null Het
Ipo9 A T 1: 135,314,431 (GRCm39) W942R possibly damaging Het
Iqch T C 9: 63,403,519 (GRCm39) probably null Het
Kcnh3 T C 15: 99,127,383 (GRCm39) L393P probably benign Het
Kcnk12 T A 17: 88,104,495 (GRCm39) I130L probably benign Het
Lcorl T C 5: 45,904,434 (GRCm39) T205A probably damaging Het
Lpar6 G T 14: 73,476,878 (GRCm39) A280S probably damaging Het
Mgarp A T 3: 51,296,570 (GRCm39) V152E probably damaging Het
Pard3b A G 1: 62,677,021 (GRCm39) D1184G probably damaging Het
Pcnt A G 10: 76,272,258 (GRCm39) probably null Het
Pom121 T C 5: 135,412,526 (GRCm39) K516E unknown Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Ptpn18 T C 1: 34,498,898 (GRCm39) probably benign Het
Rapgef5 C T 12: 117,717,154 (GRCm39) probably benign Het
Ryr2 A G 13: 11,606,202 (GRCm39) L4460S possibly damaging Het
Sema6b T C 17: 56,436,969 (GRCm39) probably null Het
Serpinb6d T A 13: 33,850,375 (GRCm39) C67* probably null Het
Sorbs2 T G 8: 46,248,381 (GRCm39) V510G probably null Het
Spic T A 10: 88,511,864 (GRCm39) I131F possibly damaging Het
Spire2 T C 8: 124,086,137 (GRCm39) S290P probably damaging Het
Tas2r117 C T 6: 132,780,447 (GRCm39) S195F probably benign Het
Tas2r117 T C 6: 132,780,450 (GRCm39) V196A probably damaging Het
Tff1 C T 17: 31,381,703 (GRCm39) G58D probably damaging Het
Tmprss11g T C 5: 86,638,640 (GRCm39) T283A probably benign Het
Toporsl T A 4: 52,610,794 (GRCm39) L229H probably damaging Het
Vmn2r80 G A 10: 79,007,488 (GRCm39) G488D probably damaging Het
Vps54 T A 11: 21,261,082 (GRCm39) V583D probably damaging Het
Vwa1 T C 4: 155,855,255 (GRCm39) E286G possibly damaging Het
Vwde A T 6: 13,219,977 (GRCm39) I58N probably damaging Het
Zbtb11 T C 16: 55,800,973 (GRCm39) V109A probably damaging Het
Zfp319 C T 8: 96,055,540 (GRCm39) R221Q 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
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
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 2013-12-09