Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01756:Cngb3'

153456

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 #

IGL01756

Quality Score

Status

Chromosome

Chromosomal Location

19280850-19510623 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 19367850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 253 (D253A)

Ref Sequence

ENSEMBL: ENSMUSP00000100064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102999]

AlphaFold

Q9JJZ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000102999
AA Change: D253A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100064
Gene: ENSMUSG00000056494
AA Change: D253A

Domain	Start	End	E-Value	Type
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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atrnl1	A	G	19: 57,641,380 (GRCm39)	N343D	probably benign	Het
Birc6	T	C	17: 74,947,203 (GRCm39)	V2974A	probably benign	Het
Cog4	A	T	8: 111,580,391 (GRCm39)	K154*	probably null	Het
Col6a3	T	A	1: 90,706,884 (GRCm39)	E2076D	unknown	Het
Cox7a2	T	G	9: 79,665,837 (GRCm39)	T15P	probably benign	Het
Cyp4f39	T	A	17: 32,702,415 (GRCm39)	L304*	probably null	Het
Gucy2e	A	T	11: 69,123,678 (GRCm39)	L407Q	probably damaging	Het
Hectd4	T	C	5: 121,482,887 (GRCm39)	I3146T	probably benign	Het
Hipk4	T	A	7: 27,227,968 (GRCm39)	L238*	probably null	Het
Igf2r	C	T	17: 12,902,709 (GRCm39)	R2447Q	probably benign	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Klkb1	T	A	8: 45,725,361 (GRCm39)	K526M	probably damaging	Het
Ninl	T	C	2: 150,821,436 (GRCm39)	E66G	probably damaging	Het
Pde8b	A	G	13: 95,182,895 (GRCm39)	S288P	probably damaging	Het
Rigi	A	T	4: 40,209,934 (GRCm39)	N666K	probably damaging	Het
Sar1a	T	A	10: 61,522,235 (GRCm39)	M109K	probably benign	Het
Snx18	T	A	13: 113,754,052 (GRCm39)	T294S	probably benign	Het
Srek1	C	T	13: 103,897,090 (GRCm39)	D84N	probably damaging	Het
Trem1	G	A	17: 48,544,141 (GRCm39)	W55*	probably null	Het
Tsnaxip1	A	T	8: 106,569,420 (GRCm39)		probably benign	Het
Vmn2r43	A	G	7: 8,258,583 (GRCm39)	L210S	probably benign	Het

Other mutations in Cngb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

2014-02-04