Mutagenetix > Incidental Mutation

Incidental Mutation 'R9489:Cngb3'

716813

Institutional Source

Beutler Lab

Gene Symbol

Cngb3

Ensembl Gene

ENSMUSG00000056494

Gene Name

cyclic nucleotide gated channel beta 3

Synonyms

CNG6, CCNC2, Cngbeta2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R9489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19280850-19510623 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19505187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 640 (Q640L)

Ref Sequence

ENSEMBL: ENSMUSP00000100064 (fasta)

Gene Model

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

AlphaFold

Q9JJZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000102999
AA Change: Q640L

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000100064
Gene: ENSMUSG00000056494
AA Change: Q640L

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 61,002,683 (GRCm39)	S24C	probably damaging	Het
6430548M08Rik	G	A	8: 120,872,380 (GRCm39)	V103I	possibly damaging	Het
Acaca	C	T	11: 84,183,842 (GRCm39)	T1240I	probably benign	Het
Adam19	T	C	11: 46,028,449 (GRCm39)	V694A	probably benign	Het
Adipor1	A	G	1: 134,352,553 (GRCm39)	D108G	probably damaging	Het
Arhgef4	A	G	1: 34,761,745 (GRCm39)	T334A	unknown	Het
Bcl11a	T	C	11: 24,114,582 (GRCm39)	F642L	probably benign	Het
Camk2d	T	C	3: 126,561,209 (GRCm39)	Y108H	probably damaging	Het
Castor2	G	T	5: 134,164,536 (GRCm39)	V166L	probably benign	Het
Catsper1	A	G	19: 5,387,785 (GRCm39)	T355A	probably benign	Het
Ccdc69	T	A	11: 54,945,856 (GRCm39)	N50I	possibly damaging	Het
Chd8	A	T	14: 52,457,055 (GRCm39)	L971Q	probably damaging	Het
Chrna10	C	A	7: 101,762,801 (GRCm39)	A130S	probably benign	Het
Ciao1	G	A	2: 127,087,684 (GRCm39)	T217I	probably damaging	Het
Cldn1	A	T	16: 26,181,924 (GRCm39)	I95N	probably damaging	Het
Cluh	C	T	11: 74,558,772 (GRCm39)	R1253C	possibly damaging	Het
Cyp2c40	A	T	19: 39,766,443 (GRCm39)	V384D	probably damaging	Het
Cyp2d26	T	A	15: 82,674,672 (GRCm39)	M437L	probably benign	Het
Cyp2j7	T	C	4: 96,103,591 (GRCm39)	T315A	probably damaging	Het
D430041D05Rik	A	G	2: 104,087,189 (GRCm39)	S596P	probably benign	Het
Dagla	A	T	19: 10,233,053 (GRCm39)	V448D	probably damaging	Het
Ddx59	A	T	1: 136,344,594 (GRCm39)	E88D	probably benign	Het
Dnhd1	A	G	7: 105,300,804 (GRCm39)	I54V	probably benign	Het
Dnttip1	A	C	2: 164,593,162 (GRCm39)	D95A	probably benign	Het
Efna3	T	C	3: 89,222,818 (GRCm39)	T207A	probably benign	Het
Eprs1	A	C	1: 185,139,895 (GRCm39)	S995R	probably benign	Het
Eprs1	G	A	1: 185,139,896 (GRCm39)	S995N	probably benign	Het
Erbb2	T	C	11: 98,311,746 (GRCm39)	V94A	possibly damaging	Het
Etl4	A	T	2: 20,771,345 (GRCm39)	I607F	possibly damaging	Het
Ets2	G	T	16: 95,516,121 (GRCm39)	E234*	probably null	Het
Fgf6	A	C	6: 126,992,814 (GRCm39)	Y89S	probably damaging	Het
Fmn2	C	T	1: 174,436,194 (GRCm39)	Q722*	probably null	Het
Gata3un	CGG	CG	2: 9,888,075 (GRCm39)		probably null	Het
Gdpd5	A	G	7: 99,103,031 (GRCm39)	D330G		Het
Glipr1	A	G	10: 111,832,801 (GRCm39)	S46P	probably damaging	Het
Gnptab	A	G	10: 88,268,992 (GRCm39)	Y565C	probably damaging	Het
H2-M10.2	C	T	17: 36,596,936 (GRCm39)	V47I	probably benign	Het
Heatr5b	T	A	17: 79,060,679 (GRCm39)	K1999*	probably null	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Kif9	G	A	9: 110,346,710 (GRCm39)	R616H	probably benign	Het
Krt87	G	T	15: 101,336,484 (GRCm39)	C56*	probably null	Het
Ldlr	A	G	9: 21,646,626 (GRCm39)	D264G	probably damaging	Het
Lrrk2	A	T	15: 91,621,420 (GRCm39)	D998V	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mmp9	A	G	2: 164,793,146 (GRCm39)	N432D	probably benign	Het
Mrc1	A	G	2: 14,324,110 (GRCm39)	N1149S	probably benign	Het
Mta1	A	T	12: 113,095,085 (GRCm39)	M448L	probably benign	Het
Myo1c	T	A	11: 75,559,899 (GRCm39)	V661E	probably benign	Het
Ndc1	T	C	4: 107,247,863 (GRCm39)		probably null	Het
Npy	A	C	6: 49,804,545 (GRCm39)	T89P	possibly damaging	Het
Or12e13	T	G	2: 87,663,478 (GRCm39)	F32V	probably benign	Het
Or52e19	A	G	7: 102,959,452 (GRCm39)	I175V	probably benign	Het
Or52e8	A	T	7: 104,624,856 (GRCm39)	M116K	probably damaging	Het
Or8b12i	A	G	9: 20,082,093 (GRCm39)	V258A	probably damaging	Het
Osgin2	G	T	4: 15,998,427 (GRCm39)	H398Q	probably damaging	Het
Pepd	A	C	7: 34,743,218 (GRCm39)	D419A	probably benign	Het
Pikfyve	A	T	1: 65,303,561 (GRCm39)	S1694C	probably benign	Het
Polq	A	G	16: 36,843,173 (GRCm39)	I236V	probably benign	Het
Prkag3	T	G	1: 74,786,378 (GRCm39)	Q189P	probably damaging	Het
Rab6b	A	T	9: 103,017,601 (GRCm39)	T31S	probably benign	Het
Ralgapb	C	T	2: 158,268,283 (GRCm39)	P129S	possibly damaging	Het
Ryr3	A	T	2: 112,491,966 (GRCm39)	L3795Q	probably damaging	Het
Sash1	C	T	10: 8,605,169 (GRCm39)	V1074M	probably benign	Het
Scfd2	T	C	5: 74,680,235 (GRCm39)	D306G	probably damaging	Het
Scg2	A	G	1: 79,412,936 (GRCm39)	Y556H	probably damaging	Het
Serpina3j	A	G	12: 104,286,093 (GRCm39)	N416S	probably damaging	Het
Serpinb6c	T	A	13: 34,081,421 (GRCm39)	Q76L	probably null	Het
Setd7	G	A	3: 51,450,139 (GRCm39)	Q96*	probably null	Het
Sf3b4	C	T	3: 96,080,946 (GRCm39)	R85W	probably damaging	Het
Sik3	T	A	9: 46,120,117 (GRCm39)	H735Q	probably benign	Het
Slain1	A	C	14: 103,902,112 (GRCm39)	T60P		Het
Slc36a3	T	C	11: 55,040,726 (GRCm39)	E69G	unknown	Het
Sorcs3	A	T	19: 48,711,364 (GRCm39)	Y643F	probably damaging	Het
Spta1	A	G	1: 174,035,880 (GRCm39)	Y1062C	probably damaging	Het
Ssc5d	C	T	7: 4,940,599 (GRCm39)	P904L	probably benign	Het
Stat5b	T	A	11: 100,699,276 (GRCm39)	H25L	possibly damaging	Het
Synj2	A	G	17: 6,063,794 (GRCm39)	I513V	probably benign	Het
Tenm2	T	C	11: 36,834,791 (GRCm39)	E68G	probably damaging	Het
Thsd7a	C	T	6: 12,352,022 (GRCm39)	G1058R		Het
Traf3ip2	T	A	10: 39,521,772 (GRCm39)	D443E	probably benign	Het
Traf6	G	T	2: 101,524,625 (GRCm39)	C235F	probably damaging	Het
Treh	A	G	9: 44,592,416 (GRCm39)	D47G	probably damaging	Het
Txndc16	A	T	14: 45,442,799 (GRCm39)	F132Y	probably damaging	Het
Uggt1	A	T	1: 36,273,886 (GRCm39)		probably null	Het
Usp25	A	T	16: 76,874,046 (GRCm39)	I541F	probably damaging	Het
Zfp51	A	G	17: 21,684,291 (GRCm39)	E302G	probably damaging	Het
Zfp648	A	T	1: 154,080,110 (GRCm39)	T90S	probably benign	Het
Zfp84	A	G	7: 29,476,264 (GRCm39)	T319A	possibly damaging	Het
Zkscan17	T	A	11: 59,378,037 (GRCm39)	H538L	probably damaging	Het
Zyg11a	G	T	4: 108,062,376 (GRCm39)	P142T	probably damaging	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
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
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
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'- TGAAGTGCCAAGGTGTGATG -3'
(R):5'- GGTCAGCCTTGTTACCTGAG -3'

Sequencing Primer
(F):5'- AATTCTGGGAGTGAGTGACCTGC -3'
(R):5'- CCTGAGTGGTTGTTTTTCTCTTTC -3'

Posted On

2022-07-18