Mutagenetix > Incidental Mutation

Incidental Mutation 'R4774:Cngb3'

367741

Institutional Source

Beutler Lab

Gene Symbol

Cngb3

Ensembl Gene

ENSMUSG00000056494

Gene Name

cyclic nucleotide gated channel beta 3

Synonyms

CNG6, CCNC2, Cngbeta2

MMRRC Submission

042412-MU

Accession Numbers

Essential gene?

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

Stock #

R4774 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19280850-19510623 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19415713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 408 (T408A)

Ref Sequence

ENSEMBL: ENSMUSP00000100064 (fasta)

Gene Model

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

AlphaFold

Q9JJZ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102999
AA Change: T408A

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100064
Gene: ENSMUSG00000056494
AA Change: T408A

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

0.2985

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (97/99)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,585,043 (GRCm39)	I844V	probably damaging	Het
Acnat1	T	A	4: 49,450,784 (GRCm39)	Y109F	probably benign	Het
Alox12b	T	C	11: 69,054,033 (GRCm39)	V205A	probably benign	Het
Arl6ip1	G	A	7: 117,721,208 (GRCm39)	R77C	probably damaging	Het
Atp8b1	A	G	18: 64,666,730 (GRCm39)	C1156R	possibly damaging	Het
Atp8b3	A	C	10: 80,372,156 (GRCm39)	N24K	probably damaging	Het
Bdh1	T	C	16: 31,273,954 (GRCm39)	V209A	possibly damaging	Het
Blm	A	T	7: 80,113,596 (GRCm39)	C1234S	probably damaging	Het
Caml	A	G	13: 55,779,740 (GRCm39)	D271G	possibly damaging	Het
Capn11	T	C	17: 45,944,006 (GRCm39)	D545G	probably benign	Het
Catspere1	T	C	1: 177,765,304 (GRCm39)		noncoding transcript	Het
Cep128	T	C	12: 91,200,969 (GRCm39)	E347G	probably damaging	Het
Coa8	A	G	12: 111,679,823 (GRCm39)	T33A	possibly damaging	Het
Cog1	G	A	11: 113,548,253 (GRCm39)	R18Q	possibly damaging	Het
Cps1	T	C	1: 67,259,671 (GRCm39)	F1338L	probably damaging	Het
Csmd1	T	C	8: 16,059,369 (GRCm39)	H2122R	probably benign	Het
Ctu2	T	G	8: 123,207,851 (GRCm39)	S26A	probably benign	Het
Dbf4	G	A	5: 8,453,062 (GRCm39)		probably benign	Het
Ddx23	A	T	15: 98,545,116 (GRCm39)	D663E	probably benign	Het
Dpep2	T	C	8: 106,717,388 (GRCm39)	T123A	possibly damaging	Het
Eed	A	G	7: 89,613,976 (GRCm39)	I274T	probably damaging	Het
Eif3b	A	G	5: 140,405,255 (GRCm39)	D47G	probably benign	Het
Epas1	T	C	17: 87,113,186 (GRCm39)	V124A	probably damaging	Het
Fer1l6	T	C	15: 58,449,798 (GRCm39)	L668P	probably damaging	Het
Fnip2	C	A	3: 79,373,028 (GRCm39)	E1017*	probably null	Het
Gm43517	A	T	12: 49,436,690 (GRCm39)		probably benign	Het
Got1	A	G	19: 43,491,345 (GRCm39)		probably null	Het
H2-Eb2	T	A	17: 34,553,375 (GRCm39)	V187E	probably damaging	Het
H2-Q1	T	C	17: 35,540,242 (GRCm39)		probably benign	Het
Hpgd	T	C	8: 56,751,454 (GRCm39)	V94A	probably damaging	Het
Htra1	T	A	7: 130,586,756 (GRCm39)	N446K	probably benign	Het
Igkv3-4	T	A	6: 70,649,269 (GRCm39)	S89R	probably damaging	Het
Immt	C	T	6: 71,829,720 (GRCm39)	T142I	probably damaging	Het
Itpkb	C	A	1: 180,245,759 (GRCm39)	P759T	probably damaging	Het
Jmjd1c	G	A	10: 67,060,571 (GRCm39)	V688I	possibly damaging	Het
Kbtbd13	G	T	9: 65,298,025 (GRCm39)	R304S	probably benign	Het
Lama5	A	C	2: 179,827,734 (GRCm39)	L2176R	probably damaging	Het
Lrp1b	G	C	2: 40,551,544 (GRCm39)	L418V	probably null	Het
Lrrc4b	C	A	7: 44,111,796 (GRCm39)		probably null	Het
Lyst	A	G	13: 13,915,182 (GRCm39)	N3292S	probably damaging	Het
Mep1b	A	T	18: 21,219,241 (GRCm39)	I132F	probably benign	Het
Mettl2	A	G	11: 105,017,436 (GRCm39)		probably null	Het
Nherf2	T	C	17: 24,863,873 (GRCm39)	M1V	probably null	Het
Niban1	A	T	1: 151,591,445 (GRCm39)	D529V	probably damaging	Het
Nmd3	T	C	3: 69,652,569 (GRCm39)	L385S	probably benign	Het
Nol4	T	C	18: 23,045,683 (GRCm39)	E243G	probably damaging	Het
Odad1	T	A	7: 45,597,804 (GRCm39)	S571R	probably damaging	Het
Or4l1	T	A	14: 50,166,726 (GRCm39)	I92F	probably damaging	Het
Or51k1	A	G	7: 103,661,795 (GRCm39)	I38T	probably benign	Het
Or5j3	A	T	2: 86,129,042 (GRCm39)	N294I	possibly damaging	Het
Or8b52	A	G	9: 38,576,519 (GRCm39)	I207T	probably benign	Het
Pcnp	A	G	16: 55,837,522 (GRCm39)		probably benign	Het
Pla2g6	A	C	15: 79,171,818 (GRCm39)	C680G	probably damaging	Het
Plekha7	G	T	7: 115,744,178 (GRCm39)	D661E	probably damaging	Het
Prim1	A	T	10: 127,862,887 (GRCm39)		probably benign	Het
Psg29	T	A	7: 16,944,460 (GRCm39)	N323K	probably benign	Het
Ptrh2	G	A	11: 86,580,833 (GRCm39)	R150H	probably damaging	Het
Rasa1	A	G	13: 85,398,621 (GRCm39)		probably benign	Het
Rasa3	T	C	8: 13,627,501 (GRCm39)	D667G	probably benign	Het
Rnase2a	T	C	14: 51,493,201 (GRCm39)	N55D	probably damaging	Het
Rsf1	GCGGCGGCGGCGGCGGCGGC	GCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,123 (GRCm39)		probably benign	Het
Sbp	T	A	17: 24,164,218 (GRCm39)	N133K	probably damaging	Het
Scml4	A	G	10: 42,833,743 (GRCm39)		probably benign	Het
Sema5b	T	A	16: 35,483,552 (GRCm39)	N1063K	probably damaging	Het
Serpind1	C	T	16: 17,154,272 (GRCm39)	T33M	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc15a2	A	T	16: 36,602,057 (GRCm39)	L80*	probably null	Het
Sorcs3	A	G	19: 48,782,602 (GRCm39)	D1039G	probably benign	Het
Spon1	A	G	7: 113,639,102 (GRCm39)	E776G	probably damaging	Het
Tdp1	C	T	12: 99,868,623 (GRCm39)	A259V	possibly damaging	Het
Tex46	C	A	4: 136,337,991 (GRCm39)	P61Q	probably benign	Het
Tnr	T	A	1: 159,724,636 (GRCm39)	L1109Q	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpra1	G	A	6: 88,887,661 (GRCm39)		probably benign	Het
Trim43c	A	T	9: 88,729,705 (GRCm39)	H383L	possibly damaging	Het
Trip6	A	G	5: 137,308,433 (GRCm39)	C439R	probably damaging	Het
Tsen2	C	T	6: 115,552,894 (GRCm39)	S398L	possibly damaging	Het
Tubgcp2	T	C	7: 139,576,074 (GRCm39)	D863G	probably damaging	Het
Ube2d2a	A	G	18: 35,903,498 (GRCm39)		probably benign	Het
Umad1	T	A	6: 8,427,181 (GRCm39)	F145I	probably damaging	Het
Unc5c	A	T	3: 141,534,278 (GRCm39)	E933V	probably damaging	Het
Vmn1r208	A	G	13: 22,956,646 (GRCm39)	F284L	probably benign	Het
Vmn2r53	T	A	7: 12,334,692 (GRCm39)	R323*	probably null	Het
Zan	G	A	5: 137,387,281 (GRCm39)	T4924I	unknown	Het
Zfp597	G	T	16: 3,683,851 (GRCm39)	Q302K	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
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
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'- AGTAGCACACATATTGTTTGCC -3'
(R):5'- GATCCAAGTACATTCCTTTCCACG -3'

Sequencing Primer
(F):5'- GTAGCACACATATTGTTTGCCAGTTC -3'
(R):5'- CATTCCTTTCCACGTCATTAAATAGG -3'

Posted On

2015-12-29