Incidental Mutation 'R3909:Cngb3'
ID 309295
Institutional Source Beutler Lab
Gene Symbol Cngb3
Ensembl Gene ENSMUSG00000056494
Gene Name cyclic nucleotide gated channel beta 3
Synonyms CNG6, CCNC2, Cngbeta2
MMRRC Submission 040814-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R3909 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 19280850-19510623 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 19461679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 520 (C520Y)
Ref Sequence ENSEMBL: ENSMUSP00000100064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102999]
AlphaFold Q9JJZ9
Predicted Effect probably damaging
Transcript: ENSMUST00000102999
AA Change: C520Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100064
Gene: ENSMUSG00000056494
AA Change: C520Y

DomainStartEndE-ValueType
Pfam:Ion_trans 210 445 5.7e-21 PFAM
cNMP 516 635 5.99e-23 SMART
Meta Mutation Damage Score 0.8865 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (35/35)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,625,125 (GRCm39) F501Y probably damaging Het
Alk T C 17: 72,204,906 (GRCm39) T1089A probably benign Het
Ankrd12 G T 17: 66,291,000 (GRCm39) P1478T probably benign Het
Arhgap39 A G 15: 76,636,088 (GRCm39) V49A probably benign Het
Arid4b T C 13: 14,307,069 (GRCm39) L108P probably damaging Het
Atrn T A 2: 130,836,127 (GRCm39) C1136S probably damaging Het
Cacna1s T A 1: 136,012,007 (GRCm39) M483K probably damaging Het
Cacng1 C A 11: 107,607,118 (GRCm39) V34L probably benign Het
Casp8 T C 1: 58,883,970 (GRCm39) S446P probably damaging Het
Crim1 C T 17: 78,588,668 (GRCm39) probably benign Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fbxl17 G A 17: 63,806,802 (GRCm39) P71S possibly damaging Het
Fn1 C T 1: 71,647,072 (GRCm39) G1482R probably damaging Het
Gbp3 C T 3: 142,272,099 (GRCm39) probably benign Het
Golga4 A G 9: 118,387,804 (GRCm39) D1642G possibly damaging Het
Hspa1a C T 17: 35,190,703 (GRCm39) V67M probably damaging Het
Hyls1 T C 9: 35,472,705 (GRCm39) D237G probably damaging Het
Kmt2e A G 5: 23,706,624 (GRCm39) N1396D probably benign Het
Lasp1 G A 11: 97,690,653 (GRCm39) V12M probably damaging Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Muc5b C T 7: 141,403,235 (GRCm39) T732M unknown Het
Mxd1 G T 6: 86,627,942 (GRCm39) Q199K probably benign Het
Or14a258 T A 7: 86,035,182 (GRCm39) T229S probably benign Het
Or4a78 T C 2: 89,497,357 (GRCm39) E291G probably damaging Het
Or5w18 T A 2: 87,633,031 (GRCm39) F95L probably benign Het
Or5w20 T A 2: 87,727,293 (GRCm39) probably null Het
Prps1l1 A T 12: 35,035,797 (GRCm39) H304L possibly damaging Het
Psmd2 A G 16: 20,474,392 (GRCm39) D316G probably benign Het
Rlf G A 4: 121,006,229 (GRCm39) T917I probably benign Het
Ryr3 T C 2: 112,466,953 (GRCm39) D4704G probably damaging Het
Scn1a T A 2: 66,104,332 (GRCm39) I1643F probably damaging Het
Vmn2r38 T C 7: 9,078,553 (GRCm39) K610E probably damaging Het
Zfc3h1 T C 10: 115,255,806 (GRCm39) F1486L 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
IGL02648:Cngb3 APN 4 19,428,489 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- CCACACATATTTCGTTATGGAGTTC -3'
(R):5'- CCATTTGAATTCCAAGCATTCGTG -3'

Sequencing Primer
(F):5'- TCAAGGCAAGTCCACACT -3'
(R):5'- AATTCCAAGCATTCGTGTTTGTTTTG -3'
Posted On 2015-04-17