Incidental Mutation 'R7554:Cngb3'
ID 584602
Institutional Source Beutler Lab
Gene Symbol Cngb3
Ensembl Gene ENSMUSG00000056494
Gene Name cyclic nucleotide gated channel beta 3
Synonyms CNG6, CCNC2, Cngbeta2
MMRRC Submission 045651-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R7554 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 19280850-19510623 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 19461753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 545 (K545*)
Ref Sequence ENSEMBL: ENSMUSP00000100064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102999]
AlphaFold Q9JJZ9
Predicted Effect probably null
Transcript: ENSMUST00000102999
AA Change: K545*
SMART Domains Protein: ENSMUSP00000100064
Gene: ENSMUSG00000056494
AA Change: K545*

DomainStartEndE-ValueType
Pfam:Ion_trans 210 445 5.7e-21 PFAM
cNMP 516 635 5.99e-23 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,839,686 (GRCm39) F185I probably damaging Het
Abi3bp T A 16: 56,438,575 (GRCm39) probably null Het
Acot5 T A 12: 84,120,254 (GRCm39) L203H probably damaging Het
Alad C T 4: 62,430,023 (GRCm39) probably null Het
Alkbh5 C T 11: 60,429,415 (GRCm39) T56I probably benign Het
Apbb1ip G A 2: 22,713,558 (GRCm39) D138N unknown Het
BC049715 T G 6: 136,817,295 (GRCm39) S178R probably damaging Het
C1rb C A 6: 124,557,365 (GRCm39) H501N probably damaging Het
Celsr3 A T 9: 108,718,408 (GRCm39) M2327L probably benign Het
Cers4 G A 8: 4,565,718 (GRCm39) V55I probably benign Het
Crb1 C T 1: 139,265,019 (GRCm39) C133Y probably damaging Het
Cryba4 C T 5: 112,398,969 (GRCm39) R25Q probably damaging Het
Cyp7b1 C T 3: 18,151,610 (GRCm39) G201D probably benign Het
Dcun1d2 A T 8: 13,331,077 (GRCm39) C18S probably benign Het
Ddx39b A T 17: 35,466,006 (GRCm39) I176F probably benign Het
Dnah7a A G 1: 53,567,857 (GRCm39) I1913T possibly damaging Het
Eif2ak1 T C 5: 143,816,296 (GRCm39) I198T probably damaging Het
Esp34 G A 17: 38,866,782 (GRCm39) M75I probably benign Het
Fam98a G T 17: 75,854,670 (GRCm39) C46* probably null Het
Fanci A T 7: 79,062,500 (GRCm39) N342I probably damaging Het
Fat1 A T 8: 45,490,202 (GRCm39) I3705F possibly damaging Het
Fbxw7 T A 3: 84,883,620 (GRCm39) V598D Het
Gas2l2 G A 11: 83,315,236 (GRCm39) Q306* probably null Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gigyf2 T A 1: 87,335,292 (GRCm39) S378T unknown Het
Hao1 C T 2: 134,372,538 (GRCm39) V157M possibly damaging Het
Hdlbp C T 1: 93,365,031 (GRCm39) V79M probably damaging Het
Htt G A 5: 35,022,084 (GRCm39) R1676H probably damaging Het
Ift56 T A 6: 38,362,435 (GRCm39) L70Q probably null Het
Klhl11 A G 11: 100,354,774 (GRCm39) V349A probably benign Het
Lama2 T C 10: 27,031,492 (GRCm39) E1522G probably damaging Het
Map3k4 T A 17: 12,451,301 (GRCm39) K1531* probably null Het
Map3k4 T A 17: 12,451,300 (GRCm39) K1531M probably damaging Het
Mapk15 A G 15: 75,867,745 (GRCm39) Y120C possibly damaging Het
Mapt C A 11: 104,189,528 (GRCm39) P182Q probably benign Het
Mgat4d A C 8: 84,082,402 (GRCm39) K117N probably benign Het
Mid1 G T X: 168,769,010 (GRCm39) S468I possibly damaging Het
Mmp8 T C 9: 7,563,112 (GRCm39) L225P probably damaging Het
Mrps31 A G 8: 22,911,445 (GRCm39) K229R possibly damaging Het
Muc5b A T 7: 141,412,513 (GRCm39) T1820S unknown Het
Myof T C 19: 37,942,958 (GRCm39) T707A probably benign Het
Nckap5l A T 15: 99,327,261 (GRCm39) S143T probably benign Het
Notch3 A G 17: 32,341,345 (GRCm39) S2136P probably benign Het
Nphp3 A T 9: 103,919,270 (GRCm39) D1306V probably damaging Het
Or10ag56 T A 2: 87,139,349 (GRCm39) M92K probably damaging Het
Or1e1b-ps1 C T 11: 73,845,630 (GRCm39) T38I probably damaging Het
Or2at1 T A 7: 99,417,210 (GRCm39) N280K possibly damaging Het
Or52n1 T C 7: 104,383,074 (GRCm39) I166V probably benign Het
Or56b1 T C 7: 104,285,733 (GRCm39) M284T probably benign Het
Or5k15 T C 16: 58,709,769 (GRCm39) I271M probably benign Het
Pabpc4l T A 3: 46,401,549 (GRCm39) T32S probably benign Het
Pcdhb10 A C 18: 37,544,935 (GRCm39) T4P probably benign Het
Pkhd1l1 A G 15: 44,358,866 (GRCm39) I358M probably damaging Het
Plekhg1 A G 10: 3,913,647 (GRCm39) E1178G Het
Prkcd A T 14: 30,331,220 (GRCm39) Y52N probably damaging Het
Rasa3 G A 8: 13,645,390 (GRCm39) T183M probably damaging Het
Rbm26 G T 14: 105,398,029 (GRCm39) A31D unknown Het
Scara3 T C 14: 66,158,299 (GRCm39) T570A possibly damaging Het
Sec24d T A 3: 123,149,423 (GRCm39) V810D probably damaging Het
Sgcz A T 8: 38,030,426 (GRCm39) probably null Het
Stt3b A G 9: 115,109,477 (GRCm39) probably null Het
Synpo G T 18: 60,736,405 (GRCm39) Q514K probably benign Het
Tagln2 G T 1: 172,333,411 (GRCm39) K88N probably damaging Het
Tcaf1 T A 6: 42,654,388 (GRCm39) K601N probably benign Het
Tent4a G T 13: 69,648,191 (GRCm39) H734Q probably damaging Het
Tprn T C 2: 25,153,811 (GRCm39) F371S probably damaging Het
Ttn A T 2: 76,671,652 (GRCm39) V11304E unknown Het
Ttn C T 2: 76,706,207 (GRCm39) W9171* probably null Het
Vmn2r50 A T 7: 9,784,066 (GRCm39) M136K probably null Het
Zfp518b G A 5: 38,830,415 (GRCm39) P530L probably damaging Het
Zfp941 C A 7: 140,391,970 (GRCm39) S463I possibly damaging 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
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
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'- ACTCCACACATATTTCGTTATGGAG -3'
(R):5'- GAATTCCAAGCATTCGTGTTTG -3'

Sequencing Primer
(F):5'- GCAAGTCCACACTGCTGTAACTTAG -3'
(R):5'- AATTCCAAGCATTCGTGTTTGTTTTG -3'
Posted On 2019-10-17