Mutagenetix > Incidental Mutation

Incidental Mutation 'R1450:Cngb3'

162131

Institutional Source

Beutler Lab

Gene Symbol

Cngb3

Ensembl Gene

ENSMUSG00000056494

Gene Name

cyclic nucleotide gated channel beta 3

Synonyms

CNG6, CCNC2, Cngbeta2

MMRRC Submission

039505-MU

Accession Numbers

Essential gene?

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

Stock #

R1450 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19280850-19510623 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 19395922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100064 (fasta)

Gene Model

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

AlphaFold

Q9JJZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000102999

SMART Domains

Protein: ENSMUSP00000100064
Gene: ENSMUSG00000056494

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	210	445	5.7e-21	PFAM
cNMP	516	635	5.99e-23	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.8%

Validation Efficiency

96% (73/76)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,380,531 (GRCm39)		probably benign	Het
Adh4	C	T	3: 138,129,935 (GRCm39)	P254S	probably damaging	Het
Amfr	T	C	8: 94,714,375 (GRCm39)	T223A	probably benign	Het
Ank2	T	C	3: 126,750,951 (GRCm39)	T412A	possibly damaging	Het
Bag6	T	A	17: 35,360,934 (GRCm39)	D422E	probably benign	Het
Ccdc185	T	G	1: 182,575,129 (GRCm39)	Q520P	possibly damaging	Het
Cfap276	T	A	3: 108,449,799 (GRCm39)		probably null	Het
Clock	G	A	5: 76,410,578 (GRCm39)	Q98*	probably null	Het
Csmd1	T	G	8: 15,995,180 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,365,130 (GRCm39)	L1636P	probably damaging	Het
Dennd4a	A	G	9: 64,818,947 (GRCm39)	I1701V	probably benign	Het
Dgcr2	T	C	16: 17,674,678 (GRCm39)	H243R	possibly damaging	Het
Dimt1	A	G	13: 107,084,151 (GRCm39)	N46S	probably benign	Het
Dnah9	T	C	11: 65,818,612 (GRCm39)	Y58C	probably damaging	Het
Dsg1b	T	A	18: 20,542,241 (GRCm39)	V916E	probably damaging	Het
Dst	T	C	1: 34,227,476 (GRCm39)	S1690P	probably damaging	Het
Dst	T	A	1: 34,251,340 (GRCm39)	I2131K	probably damaging	Het
Epb41l1	T	C	2: 156,353,745 (GRCm39)		probably benign	Het
Fem1a	T	C	17: 56,564,579 (GRCm39)	V224A	probably damaging	Het
Got2	C	T	8: 96,598,614 (GRCm39)	E203K	probably benign	Het
Hcar2	A	T	5: 124,002,813 (GRCm39)	I230N	probably damaging	Het
Herc3	A	T	6: 58,853,500 (GRCm39)	K554*	probably null	Het
Hfm1	A	G	5: 107,066,324 (GRCm39)	F35L	probably damaging	Het
Hmcn1	A	G	1: 150,528,257 (GRCm39)		probably benign	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Hs2st1	C	T	3: 144,140,479 (GRCm39)		probably benign	Het
Igfbp5	T	A	1: 72,913,048 (GRCm39)	D84V	probably benign	Het
Ints3	C	A	3: 90,340,135 (GRCm39)	L41F	probably damaging	Het
Ipo5	T	C	14: 121,181,805 (GRCm39)	V966A	probably benign	Het
Kif26a	C	T	12: 112,140,286 (GRCm39)	T505M	probably damaging	Het
Kpna2	A	G	11: 106,888,135 (GRCm39)	S2P	probably benign	Het
Lct	A	G	1: 128,235,640 (GRCm39)	S456P	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc7	T	G	3: 157,892,681 (GRCm39)	I323L	possibly damaging	Het
Ly6g	A	G	15: 75,030,482 (GRCm39)	K77R	probably benign	Het
Maea	T	C	5: 33,523,144 (GRCm39)		probably null	Het
Marco	A	T	1: 120,404,474 (GRCm39)		probably benign	Het
Mcmbp	G	T	7: 128,317,655 (GRCm39)		probably benign	Het
Mtcl3	A	T	10: 29,023,736 (GRCm39)	N361I	probably damaging	Het
Mtr	T	A	13: 12,208,619 (GRCm39)	R1017W	probably damaging	Het
Myo15a	T	A	11: 60,386,308 (GRCm39)	I1811N	probably damaging	Het
Nbeal2	G	A	9: 110,462,740 (GRCm39)		probably benign	Het
Nlrp10	A	G	7: 108,524,595 (GRCm39)	V295A	probably damaging	Het
Or10ak7	T	C	4: 118,791,707 (GRCm39)	T111A	probably benign	Het
Or51ac3	A	G	7: 103,213,658 (GRCm39)	V276A	probably benign	Het
Or5e1	A	T	7: 108,354,719 (GRCm39)	I219F	probably damaging	Het
Pde4b	A	T	4: 102,458,832 (GRCm39)	Q496L	probably damaging	Het
Peg12	C	A	7: 62,113,324 (GRCm39)	G258*	probably null	Het
Pigc	A	G	1: 161,798,822 (GRCm39)	Y268C	probably benign	Het
Pnisr	G	T	4: 21,874,912 (GRCm39)		probably null	Het
Poteg	T	C	8: 27,937,871 (GRCm39)	F5S	probably benign	Het
Prss40	T	A	1: 34,595,178 (GRCm39)	I101F	probably benign	Het
Ptges3l	T	A	11: 101,312,731 (GRCm39)	D113V	possibly damaging	Het
Raver2	T	C	4: 100,993,349 (GRCm39)	S510P	possibly damaging	Het
Rgr	A	T	14: 36,766,641 (GRCm39)	C94*	probably null	Het
Rp1l1	T	A	14: 64,265,599 (GRCm39)	I395N	probably benign	Het
Sesn3	T	A	9: 14,227,520 (GRCm39)	H168Q	possibly damaging	Het
Sox30	C	A	11: 45,908,098 (GRCm39)	P755Q	probably damaging	Het
Stac3	T	C	10: 127,340,754 (GRCm39)	F173S	probably damaging	Het
Synj2	C	A	17: 6,077,599 (GRCm39)		probably benign	Het
Tars3	A	T	7: 65,297,244 (GRCm39)	I120L	probably benign	Het
Tas2r124	A	G	6: 132,732,019 (GRCm39)	I109M	probably damaging	Het
Tm4sf19	A	T	16: 32,226,781 (GRCm39)	H190L	probably damaging	Het
Tmem143	T	G	7: 45,556,532 (GRCm39)	V179G	probably damaging	Het
Ubr4	T	C	4: 139,195,339 (GRCm39)	F1187S	probably damaging	Het
Ubtfl1	A	G	9: 18,321,209 (GRCm39)	R246G	possibly damaging	Het
Zdhhc5	A	G	2: 84,532,733 (GRCm39)	F57S	probably damaging	Het
Zfp40	A	T	17: 23,394,232 (GRCm39)	M717K	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
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
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

Predicted Primers

Posted On

2014-03-14