Incidental Mutation 'IGL02648:Cngb3'
ID 302025
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cngb3
Ensembl Gene ENSMUSG00000056494
Gene Name cyclic nucleotide gated channel beta 3
Synonyms CNG6, CCNC2, Cngbeta2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL02648
Quality Score
Status
Chromosome 4
Chromosomal Location 19280850-19510623 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19428489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 493 (N493S)
Ref Sequence ENSEMBL: ENSMUSP00000100064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102999]
AlphaFold Q9JJZ9
Predicted Effect probably benign
Transcript: ENSMUST00000102999
AA Change: N493S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100064
Gene: ENSMUSG00000056494
AA Change: N493S

DomainStartEndE-ValueType
Pfam:Ion_trans 210 445 5.7e-21 PFAM
cNMP 516 635 5.99e-23 SMART
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 beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit cone degeneration and decreased photopic response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,344,392 (GRCm39) probably null Het
Acp4 A G 7: 43,904,414 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,659,738 (GRCm39) M1997K probably benign Het
Arhgdib T C 6: 136,910,647 (GRCm39) D38G probably damaging Het
Bbox1 T G 2: 110,135,871 (GRCm39) D36A probably damaging Het
Cacna1c T C 6: 118,734,457 (GRCm39) K104R probably damaging Het
Cacna1i G A 15: 80,182,839 (GRCm39) C75Y probably damaging Het
Ccdc14 T C 16: 34,517,528 (GRCm39) L70S probably damaging Het
Ccdc88a T G 11: 29,451,051 (GRCm39) V1580G probably benign Het
Cdadc1 C A 14: 59,823,812 (GRCm39) D227Y probably damaging Het
Chd3 T C 11: 69,242,976 (GRCm39) Y1415C probably damaging Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Gm10549 C A 18: 33,597,303 (GRCm39) probably benign Het
Greb1 C T 12: 16,758,683 (GRCm39) V678M probably damaging Het
Gucy2c G A 6: 136,706,211 (GRCm39) R497* probably null Het
Itgad T C 7: 127,782,546 (GRCm39) probably benign Het
Lgr4 C A 2: 109,842,718 (GRCm39) T877K probably damaging Het
Lrig3 A G 10: 125,802,463 (GRCm39) D40G probably benign Het
Myo3b T C 2: 69,935,716 (GRCm39) probably benign Het
Neb A G 2: 52,161,093 (GRCm39) Y2193H possibly damaging Het
Or4b1 T A 2: 89,979,697 (GRCm39) I218F possibly damaging Het
Or8b3b T C 9: 38,584,312 (GRCm39) M143V probably benign Het
Pard6b A G 2: 167,940,847 (GRCm39) Q278R probably benign Het
Pate10 A T 9: 35,652,405 (GRCm39) M21L probably benign Het
Pkd2l1 T C 19: 44,143,975 (GRCm39) Y366C possibly damaging Het
Prl2c1 A G 13: 28,041,542 (GRCm39) D188G probably benign Het
Prl3a1 G T 13: 27,454,218 (GRCm39) M65I probably benign Het
Psg26 T A 7: 18,216,691 (GRCm39) E49D probably benign Het
Rapgef3 G A 15: 97,656,273 (GRCm39) R38W probably damaging Het
Rrn3 T C 16: 13,629,453 (GRCm39) F590L probably benign Het
Serpina12 T C 12: 104,004,267 (GRCm39) K122E probably benign Het
Slc39a6 T C 18: 24,715,424 (GRCm39) I699V probably damaging Het
Tmem259 G A 10: 79,813,651 (GRCm39) P443S probably damaging Het
Vmn1r75 T A 7: 11,615,091 (GRCm39) F274L probably benign Het
Other mutations in Cngb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00740:Cngb3 APN 4 19,280,956 (GRCm39) missense probably damaging 0.98
IGL01301:Cngb3 APN 4 19,425,625 (GRCm39) missense probably damaging 1.00
IGL01735:Cngb3 APN 4 19,415,648 (GRCm39) missense probably damaging 1.00
IGL01756:Cngb3 APN 4 19,367,850 (GRCm39) missense probably damaging 1.00
IGL01812:Cngb3 APN 4 19,461,728 (GRCm39) missense possibly damaging 0.86
IGL02123:Cngb3 APN 4 19,367,801 (GRCm39) missense probably damaging 0.99
IGL02636:Cngb3 APN 4 19,396,690 (GRCm39) missense probably damaging 1.00
IGL02935:Cngb3 APN 4 19,425,491 (GRCm39) missense possibly damaging 0.95
IGL03025:Cngb3 APN 4 19,283,498 (GRCm39) splice site probably benign
IGL03068:Cngb3 APN 4 19,375,246 (GRCm39) missense possibly damaging 0.92
braced UTSW 4 19,395,922 (GRCm39) splice site probably benign
ANU18:Cngb3 UTSW 4 19,425,625 (GRCm39) missense probably damaging 1.00
R0014:Cngb3 UTSW 4 19,396,685 (GRCm39) missense probably benign 0.33
R0014:Cngb3 UTSW 4 19,396,685 (GRCm39) missense probably benign 0.33
R0195:Cngb3 UTSW 4 19,280,975 (GRCm39) missense probably benign 0.00
R0361:Cngb3 UTSW 4 19,366,467 (GRCm39) missense probably benign 0.00
R0480:Cngb3 UTSW 4 19,309,517 (GRCm39) splice site probably benign
R1103:Cngb3 UTSW 4 19,309,658 (GRCm39) critical splice donor site probably null
R1450:Cngb3 UTSW 4 19,395,922 (GRCm39) splice site probably benign
R1618:Cngb3 UTSW 4 19,364,260 (GRCm39) missense probably benign
R1891:Cngb3 UTSW 4 19,366,446 (GRCm39) missense probably benign 0.00
R2196:Cngb3 UTSW 4 19,415,690 (GRCm39) missense possibly damaging 0.64
R2850:Cngb3 UTSW 4 19,415,690 (GRCm39) missense possibly damaging 0.64
R3909:Cngb3 UTSW 4 19,461,679 (GRCm39) missense probably damaging 1.00
R3941:Cngb3 UTSW 4 19,396,786 (GRCm39) missense probably benign 0.00
R4348:Cngb3 UTSW 4 19,396,688 (GRCm39) missense probably damaging 1.00
R4490:Cngb3 UTSW 4 19,415,684 (GRCm39) missense probably benign 0.41
R4493:Cngb3 UTSW 4 19,367,778 (GRCm39) missense probably damaging 1.00
R4578:Cngb3 UTSW 4 19,425,613 (GRCm39) missense probably damaging 1.00
R4719:Cngb3 UTSW 4 19,309,562 (GRCm39) missense probably benign
R4774:Cngb3 UTSW 4 19,415,713 (GRCm39) missense possibly damaging 0.85
R4860:Cngb3 UTSW 4 19,425,569 (GRCm39) missense possibly damaging 0.50
R4860:Cngb3 UTSW 4 19,425,569 (GRCm39) missense possibly damaging 0.50
R4898:Cngb3 UTSW 4 19,395,926 (GRCm39) missense probably benign 0.08
R5216:Cngb3 UTSW 4 19,415,729 (GRCm39) missense possibly damaging 0.93
R5647:Cngb3 UTSW 4 19,364,266 (GRCm39) missense possibly damaging 0.51
R5945:Cngb3 UTSW 4 19,283,579 (GRCm39) missense probably null 0.00
R6586:Cngb3 UTSW 4 19,280,946 (GRCm39) missense probably damaging 0.99
R6650:Cngb3 UTSW 4 19,364,168 (GRCm39) missense probably damaging 1.00
R6651:Cngb3 UTSW 4 19,375,231 (GRCm39) missense probably benign 0.01
R7070:Cngb3 UTSW 4 19,425,593 (GRCm39) missense possibly damaging 0.78
R7316:Cngb3 UTSW 4 19,425,599 (GRCm39) missense probably benign 0.16
R7371:Cngb3 UTSW 4 19,425,575 (GRCm39) missense possibly damaging 0.69
R7554:Cngb3 UTSW 4 19,461,753 (GRCm39) nonsense probably null
R7755:Cngb3 UTSW 4 19,461,684 (GRCm39) missense probably benign 0.01
R8004:Cngb3 UTSW 4 19,505,273 (GRCm39) missense possibly damaging 0.85
R8025:Cngb3 UTSW 4 19,280,960 (GRCm39) missense possibly damaging 0.95
R9143:Cngb3 UTSW 4 19,375,190 (GRCm39) splice site probably benign
R9366:Cngb3 UTSW 4 19,395,983 (GRCm39) missense probably benign 0.03
R9489:Cngb3 UTSW 4 19,505,187 (GRCm39) missense probably benign 0.17
R9605:Cngb3 UTSW 4 19,505,187 (GRCm39) missense probably benign 0.17
X0062:Cngb3 UTSW 4 19,364,189 (GRCm39) missense possibly damaging 0.91
X0067:Cngb3 UTSW 4 19,367,753 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16