Incidental Mutation 'R2196:Cngb3'
ID 238347
Institutional Source Beutler Lab
Gene Symbol Cngb3
Ensembl Gene ENSMUSG00000056494
Gene Name cyclic nucleotide gated channel beta 3
Synonyms CNG6, CCNC2, Cngbeta2
MMRRC Submission 040198-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R2196 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 19280850-19510623 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19415690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 400 (I400T)
Ref Sequence ENSEMBL: ENSMUSP00000100064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102999]
AlphaFold Q9JJZ9
Predicted Effect possibly damaging
Transcript: ENSMUST00000102999
AA Change: I400T

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100064
Gene: ENSMUSG00000056494
AA Change: I400T

DomainStartEndE-ValueType
Pfam:Ion_trans 210 445 5.7e-21 PFAM
cNMP 516 635 5.99e-23 SMART
Meta Mutation Damage Score 0.8477 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T A 13: 12,290,065 (GRCm39) T734S probably damaging Het
Acvr2a A T 2: 48,760,324 (GRCm39) T27S possibly damaging Het
Ankhd1 T A 18: 36,781,432 (GRCm39) N2161K probably damaging Het
Apba3 A G 10: 81,107,542 (GRCm39) Y350C probably damaging Het
Bnipl T A 3: 95,157,181 (GRCm39) R47S possibly damaging Het
Cacna1b C T 2: 24,651,800 (GRCm39) M126I probably damaging Het
Cep112 G A 11: 108,461,187 (GRCm39) E329K probably damaging Het
Cep55 T A 19: 38,057,558 (GRCm39) Y187N probably damaging Het
Csad T C 15: 102,096,028 (GRCm39) N142D probably benign Het
Dars1 A T 1: 128,306,595 (GRCm39) I195N probably damaging Het
Dmxl1 T A 18: 50,050,698 (GRCm39) L2454Q probably benign Het
Emc1 A T 4: 139,093,841 (GRCm39) E650D probably benign Het
Enam A G 5: 88,650,603 (GRCm39) D704G probably damaging Het
Fat1 T A 8: 45,477,683 (GRCm39) I2220N probably damaging Het
Fat4 T C 3: 39,035,566 (GRCm39) S3073P probably benign Het
Fbxl4 T C 4: 22,403,624 (GRCm39) M399T probably benign Het
Gcsh G A 8: 117,715,909 (GRCm39) T58M possibly damaging Het
Ghrhr T C 6: 55,356,726 (GRCm39) Y108H probably damaging Het
Gm5431 A T 11: 48,780,058 (GRCm39) I566N probably damaging Het
Gnb5 A T 9: 75,234,511 (GRCm39) D70V probably damaging Het
Grin2c G T 11: 115,141,492 (GRCm39) S875R probably benign Het
Itch A C 2: 155,044,141 (GRCm39) Q482P probably benign Het
Krt87 T C 15: 101,336,314 (GRCm39) E113G probably damaging Het
Map4 A G 9: 109,900,116 (GRCm39) E934G probably damaging Het
Mkx A G 18: 7,000,675 (GRCm39) L89P probably damaging Het
Myo15a T A 11: 60,400,847 (GRCm39) Y2982* probably null Het
Nedd4 C T 9: 72,632,356 (GRCm39) L397F possibly damaging Het
Nom1 A G 5: 29,641,019 (GRCm39) D353G probably benign Het
Notch1 A T 2: 26,353,816 (GRCm39) L1937* probably null Het
Nrxn2 A T 19: 6,540,139 (GRCm39) D820V probably damaging Het
Nup210 A T 6: 91,032,226 (GRCm39) N47K probably benign Het
Or1j12 T A 2: 36,342,600 (GRCm39) M1K probably null Het
Or4p21 G A 2: 88,277,054 (GRCm39) T76I probably benign Het
Or6d14 A T 6: 116,533,578 (GRCm39) Q64L probably damaging Het
Pcolce2 A T 9: 95,576,742 (GRCm39) I338F probably damaging Het
Pkd1 T C 17: 24,799,046 (GRCm39) M2755T possibly damaging Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Rab3a T C 8: 71,209,872 (GRCm39) S51P probably benign Het
Scn10a G A 9: 119,438,070 (GRCm39) A1933V probably benign Het
Serpina1c T A 12: 103,862,370 (GRCm39) Y315F probably damaging Het
Slc29a4 A C 5: 142,698,650 (GRCm39) I104L possibly damaging Het
Spag16 G A 1: 69,897,681 (GRCm39) V144I possibly damaging Het
Spata22 A G 11: 73,236,660 (GRCm39) K322R probably benign Het
Sult2a8 T A 7: 14,161,778 (GRCm39) I23L probably benign Het
Thoc1 T A 18: 9,986,300 (GRCm39) V344D probably damaging Het
Tnn G C 1: 159,924,798 (GRCm39) Y1185* probably null Het
Trpc4 A G 3: 54,209,614 (GRCm39) I660V probably benign Het
Urb1 A G 16: 90,571,144 (GRCm39) Y1222H probably benign Het
Usp4 A G 9: 108,250,885 (GRCm39) E531G probably benign Het
Vmn2r93 C T 17: 18,525,428 (GRCm39) S362L probably damaging Het
Zfhx3 G T 8: 109,526,885 (GRCm39) E927D probably damaging Het
Zfp644 A T 5: 106,786,469 (GRCm39) M1K probably null Het
Zp2 T C 7: 119,737,529 (GRCm39) H252R 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
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
Predicted Primers PCR Primer
(F):5'- ACCCTCCTTGTGTTTAAGTGTTTAG -3'
(R):5'- GCAAAAGGACCACAGATTTCAATAG -3'

Sequencing Primer
(F):5'- TGAACTGTGTGTGAGAGC -3'
(R):5'- GGACCACAGATTTCAATAGTTCTTCC -3'
Posted On 2014-10-02