Mutagenetix > Incidental Mutation

Incidental Mutation 'R1618:Cngb3'

174419

Institutional Source

Beutler Lab

Gene Symbol

Cngb3

Ensembl Gene

ENSMUSG00000056494

Gene Name

cyclic nucleotide gated channel beta 3

Synonyms

CNG6, CCNC2, Cngbeta2

MMRRC Submission

039655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R1618 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19280850-19510623 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19364260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 155 (S155P)

Ref Sequence

ENSEMBL: ENSMUSP00000100064 (fasta)

Gene Model

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

AlphaFold

Q9JJZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000102999
AA Change: S155P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100064
Gene: ENSMUSG00000056494
AA Change: S155P

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: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.1%

Validation Efficiency

96% (79/82)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449E01Rik	T	C	14: 105,736,380 (GRCm39)		noncoding transcript	Het
Abca8b	A	T	11: 109,840,714 (GRCm39)		probably benign	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Anln	A	G	9: 22,262,214 (GRCm39)		probably null	Het
Anpep	T	G	7: 79,485,165 (GRCm39)	Q607P	probably benign	Het
Arl13b	A	C	16: 62,633,640 (GRCm39)		probably null	Het
Asxl3	T	C	18: 22,650,044 (GRCm39)	S678P	probably damaging	Het
Atf6b	C	T	17: 34,866,702 (GRCm39)	Q58*	probably null	Het
Camsap3	A	G	8: 3,648,740 (GRCm39)	T20A	probably benign	Het
Cfap46	T	A	7: 139,232,726 (GRCm39)	M782L	probably benign	Het
Coro1a	T	C	7: 126,300,719 (GRCm39)	I162V	probably benign	Het
Cry1	T	A	10: 84,982,318 (GRCm39)	I343F	probably damaging	Het
Csnk1e	A	T	15: 79,309,050 (GRCm39)	M292K	probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Cul9	A	T	17: 46,836,818 (GRCm39)	M1069K	probably benign	Het
Cyp2c67	C	A	19: 39,631,708 (GRCm39)		probably benign	Het
Dnah11	T	C	12: 117,979,200 (GRCm39)	I2633V	probably damaging	Het
Eif4g3	C	A	4: 137,933,369 (GRCm39)	D1731E	probably damaging	Het
Epb41l4b	T	C	4: 57,032,204 (GRCm39)	T592A	probably benign	Het
Evi5	T	C	5: 107,946,984 (GRCm39)		probably benign	Het
Exo1	T	A	1: 175,728,952 (GRCm39)	M672K	probably benign	Het
Fcho1	T	C	8: 72,163,047 (GRCm39)	S661G	probably damaging	Het
Fnip2	A	G	3: 79,415,475 (GRCm39)	Y188H	possibly damaging	Het
Foxb1	T	C	9: 69,667,293 (GRCm39)	D79G	probably damaging	Het
Fyco1	T	C	9: 123,658,346 (GRCm39)	Y610C	probably damaging	Het
Gm3095	T	A	14: 15,170,441 (GRCm39)	Y97N	probably damaging	Het
Gm3095	C	A	14: 15,170,440 (GRCm39)	N96K	probably damaging	Het
Gmfb	A	T	14: 47,049,237 (GRCm39)	L128*	probably null	Het
Gprc5c	T	A	11: 114,755,220 (GRCm39)	V299D	possibly damaging	Het
Hsfy2	C	T	1: 56,676,388 (GRCm39)	V50I	probably benign	Het
Hspa12b	A	C	2: 130,982,849 (GRCm39)	K236Q	probably benign	Het
Impg2	A	G	16: 56,080,221 (GRCm39)	Y566C	probably damaging	Het
Itpr3	A	C	17: 27,335,581 (GRCm39)		probably null	Het
Kprp	G	A	3: 92,732,783 (GRCm39)	T89I	probably damaging	Het
Lcmt2	T	C	2: 120,969,133 (GRCm39)	E650G	probably damaging	Het
Lrch1	T	C	14: 75,051,144 (GRCm39)	D331G	probably damaging	Het
Mroh9	T	A	1: 162,852,110 (GRCm39)	I860F	probably benign	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myt1l	A	G	12: 29,877,396 (GRCm39)	D349G	unknown	Het
Ndufs2	T	C	1: 171,073,690 (GRCm39)	T31A	probably benign	Het
Ndufs3	A	T	2: 90,729,016 (GRCm39)	S157T	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Noct	T	A	3: 51,155,251 (GRCm39)	S6R	probably damaging	Het
Npas2	T	A	1: 39,339,808 (GRCm39)	H119Q	probably damaging	Het
Oprl1	A	T	2: 181,360,646 (GRCm39)	Y207F	probably benign	Het
Or2n1e	G	A	17: 38,586,557 (GRCm39)		probably null	Het
Or4c11	A	G	2: 88,695,871 (GRCm39)		probably null	Het
Or8k30	T	G	2: 86,339,193 (GRCm39)	L130R	probably damaging	Het
Palm3	G	T	8: 84,756,291 (GRCm39)	S601I	possibly damaging	Het
Plscr1	T	A	9: 92,148,548 (GRCm39)	C163S	probably damaging	Het
Ptprk	A	T	10: 28,369,166 (GRCm39)	M713L	probably benign	Het
Rdm1	A	G	11: 101,519,217 (GRCm39)	D72G	possibly damaging	Het
Reln	T	C	5: 22,265,366 (GRCm39)	D442G	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Sbno1	T	C	5: 124,542,279 (GRCm39)	Y338C	probably damaging	Het
Seh1l	T	G	18: 67,921,806 (GRCm39)	V222G	probably damaging	Het
Septin12	T	C	16: 4,814,340 (GRCm39)	K43R	probably damaging	Het
Slc25a18	A	C	6: 120,763,303 (GRCm39)		probably benign	Het
Slc33a1	T	C	3: 63,855,650 (GRCm39)	T332A	possibly damaging	Het
Slc35d3	A	G	10: 19,724,909 (GRCm39)	S316P	probably benign	Het
Spmip7	A	G	11: 11,438,641 (GRCm39)		probably benign	Het
Srrm2	T	A	17: 24,037,906 (GRCm39)		probably benign	Het
Srsf12	C	T	4: 33,230,974 (GRCm39)	S156L	probably damaging	Het
Syce3	A	G	15: 89,274,606 (GRCm39)	M49T	probably benign	Het
Tjp3	T	C	10: 81,112,094 (GRCm39)		probably benign	Het
Tnks	G	T	8: 35,342,430 (GRCm39)	N373K	probably damaging	Het
Togaram1	A	G	12: 65,013,847 (GRCm39)	N366S	possibly damaging	Het
Trpm1	G	A	7: 63,890,283 (GRCm39)	R962H	probably damaging	Het
Trpm6	A	T	19: 18,854,995 (GRCm39)	M1885L	possibly damaging	Het
Tshz3	A	G	7: 36,471,221 (GRCm39)	D1070G	probably damaging	Het
Ush2a	T	C	1: 188,546,421 (GRCm39)	M3399T	probably benign	Het
Utp15	G	A	13: 98,393,695 (GRCm39)	T196I	probably benign	Het
Vmn1r168	T	C	7: 23,240,725 (GRCm39)	I194T	probably benign	Het
Vmn2r73	C	T	7: 85,525,120 (GRCm39)	W9*	probably null	Het
Wdr17	T	C	8: 55,092,930 (GRCm39)	Y1076C	probably damaging	Het
Zan	T	C	5: 137,382,092 (GRCm39)	T5152A	unknown	Het
Zbtb46	A	T	2: 181,066,042 (GRCm39)	V36E	possibly damaging	Het
Zfp558	T	C	9: 18,380,579 (GRCm39)	I9M	possibly damaging	Het
Zscan2	T	A	7: 80,525,534 (GRCm39)	Y418*	probably null	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
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

PCR Primer
(F):5'- TGGCAATCCATCTTACGCCAGAAC -3'
(R):5'- CAGGGTCACACTAATGTGCTCTCAC -3'

Sequencing Primer
(F):5'- ACGCCAGAACTATTTCCACTTTAG -3'
(R):5'- TGCTATTCTCAGATGTCCGAATC -3'

Posted On

2014-04-24