Mutagenetix > Incidental Mutation

Incidental Mutation 'R8859:Cnga3'

675493

Institutional Source

Beutler Lab

Gene Symbol

Cnga3

Ensembl Gene

ENSMUSG00000026114

Gene Name

cyclic nucleotide gated channel alpha 3

Synonyms

CNG3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37214434-37263384 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37260771 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 191 (K191E)

Ref Sequence

ENSEMBL: ENSMUSP00000027288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027288] [ENSMUST00000194195] [ENSMUST00000195272]

AlphaFold

Q9JJZ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027288
AA Change: K191E

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027288
Gene: ENSMUSG00000026114
AA Change: K191E

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	109	351	1.3e-30	PFAM
cNMP	423	547	2.5e-28	SMART
PDB:3SWY\|C	567	610	2e-14	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194195
AA Change: K191E

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142075
Gene: ENSMUSG00000026114
AA Change: K191E

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	146	340	1.3e-15	PFAM
cNMP	423	547	2.4e-28	SMART
PDB:3SWY\|C	567	610	2e-14	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195272
AA Change: K229E

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142175
Gene: ENSMUSG00000026114
AA Change: K229E

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	184	378	1.5e-15	PFAM
cNMP	461	585	2.4e-28	SMART
PDB:3SWY\|C	605	648	3e-14	PDB

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (95/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals experience progressive loss of cone photoreceptor cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,378,397	Y3490F		Het
Abcc1	T	C	16: 14,396,361	V167A	probably benign	Het
Abcd2	G	A	15: 91,188,946	R337C	probably damaging	Het
Adcy1	A	G	11: 7,161,877	D914G	probably benign	Het
Ahnak	G	T	19: 9,007,203	L1950F	probably damaging	Het
Alox5ap	T	C	5: 149,265,184		probably null	Het
Ank	C	T	15: 27,562,748	H181Y	possibly damaging	Het
Ankrd44	T	A	1: 54,667,521	D592V	possibly damaging	Het
Ap4m1	T	A	5: 138,175,923	N185K	possibly damaging	Het
Arhgef28	T	A	13: 97,945,702	D1199V	probably damaging	Het
Arnt	T	C	3: 95,490,380		probably null	Het
Atcay	C	T	10: 81,224,464	V13M	probably benign	Het
B4galt3	T	C	1: 171,271,671	S2P	unknown	Het
Bicra	A	T	7: 15,987,812	S593R	possibly damaging	Het
Brsk2	A	C	7: 141,998,678	Q633P	probably damaging	Het
Cacna1c	T	A	6: 118,676,319	S909C		Het
Ccdc7a	G	A	8: 129,061,632	T72M	probably benign	Het
Cct2	A	T	10: 117,060,834	F155I	possibly damaging	Het
Cdv3	G	T	9: 103,356,395	P194T	probably damaging	Het
Cenpc1	A	T	5: 86,012,294	V895E	probably benign	Het
Cep170b	T	C	12: 112,736,447	V448A	probably benign	Het
Chil3	G	A	3: 106,164,124	R75C	possibly damaging	Het
Cnfn	A	T	7: 25,368,444	C24S	probably benign	Het
Col12a1	A	T	9: 79,680,399	Y1153*	probably null	Het
Coq4	C	A	2: 29,795,479	H168Q	probably damaging	Het
Cyr61	T	C	3: 145,648,625	D177G	probably benign	Het
Dnajc14	G	A	10: 128,806,619	V137I	probably benign	Het
Efr3a	T	C	15: 65,854,765	L569P	probably damaging	Het
Epb41l3	A	T	17: 69,284,580	E677D	probably benign	Het
Esp8	G	A	17: 40,530,122	M91I	unknown	Het
Fubp1	A	T	3: 152,232,032		probably benign	Het
Gldc	G	T	19: 30,139,379	A391D	probably damaging	Het
Gm17728	A	G	17: 9,422,195	T46A	probably benign	Het
Gm5798	A	G	14: 41,350,646	K112E	probably damaging	Het
Gm884	A	C	11: 103,615,544	I1866S	unknown	Het
Gpnmb	A	G	6: 49,052,030		probably benign	Het
Grwd1	T	C	7: 45,825,874	T415A	probably benign	Het
Gsdma3	C	G	11: 98,631,260	A172G	possibly damaging	Het
Hltf	C	T	3: 20,065,402	Q204*	probably null	Het
Igf1r	T	G	7: 68,183,463	V457G	possibly damaging	Het
Inhbc	A	T	10: 127,357,115	M344K	probably damaging	Het
Jak3	C	T	8: 71,678,516	A60V	probably benign	Het
Kif13b	A	G	14: 64,742,433	T511A	probably benign	Het
Lama2	T	A	10: 27,459,388	N97I	possibly damaging	Het
Limd2	T	A	11: 106,158,750	D104V	probably damaging	Het
Loxl3	T	A	6: 83,037,545	C145S	probably damaging	Het
Lrrc73	A	G	17: 46,254,529	N62S	probably benign	Het
Lrrtm4	A	G	6: 80,021,887	D94G	probably damaging	Het
Lsm3	C	A	6: 91,522,270	F86L	probably damaging	Het
Map10	T	C	8: 125,670,552	V228A	probably benign	Het
Mcidas	A	C	13: 112,994,130	S54R	possibly damaging	Het
Me3	T	C	7: 89,806,668	Y243H	probably damaging	Het
Mgat4b	A	G	11: 50,230,847	T89A	possibly damaging	Het
Mmp16	T	A	4: 18,054,355		probably benign	Het
Mtmr9	G	A	14: 63,543,777		probably benign	Het
Myo1b	G	T	1: 51,797,039	A331E	probably damaging	Het
Ncoa6	C	T	2: 155,406,468	V1639M	possibly damaging	Het
Nek9	C	T	12: 85,306,346	G752R	probably damaging	Het
Nufip2	A	G	11: 77,693,243	Y661C	probably benign	Het
Olfr1490	T	A	19: 13,654,882	V151E	probably damaging	Het
Olfr354	C	T	2: 36,907,504	A186V	possibly damaging	Het
Olfr574	A	T	7: 102,949,166	I234F	probably damaging	Het
Olfr828	T	C	9: 18,815,696	I199M	possibly damaging	Het
Olfr972	G	A	9: 39,873,598	G108S	probably benign	Het
Oxct2a	A	G	4: 123,322,529	L353S	probably benign	Het
Parvg	A	G	15: 84,337,800	I243V	probably benign	Het
Pcdhgb7	C	A	18: 37,753,296	N506K	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Pgghg	G	A	7: 140,945,454		probably null	Het
Phrf1	G	T	7: 141,256,603	G263W	unknown	Het
Ppfia1	A	C	7: 144,479,025		probably null	Het
Ppp1r32	T	A	19: 10,482,235	Y36F	probably damaging	Het
Prss37	T	A	6: 40,514,963	I228F	probably damaging	Het
Ptpro	A	T	6: 137,426,784	K921*	probably null	Het
Rictor	T	G	15: 6,783,586	L940R	probably damaging	Het
Rp1	A	G	1: 4,349,960	S310P	probably benign	Het
Ryr3	A	G	2: 112,653,219	V4091A	probably damaging	Het
Sirt5	T	A	13: 43,370,851	M33K	possibly damaging	Het
Slc25a30	T	A	14: 75,771,477	Y90F	probably benign	Het
St5	T	A	7: 109,524,656	K1132M	probably damaging	Het
Stk11	G	A	10: 80,128,435	D388N	probably benign	Het
Tgm1	C	A	14: 55,712,229	R126L	probably benign	Het
Tmem110	T	A	14: 30,866,672	Y119N	probably damaging	Het
Tmem129	G	T	5: 33,654,493	T321N	probably benign	Het
Tnfrsf11a	A	T	1: 105,844,518		probably null	Het
Tor1aip1	A	G	1: 156,031,444	C195R	probably benign	Het
Tpr	A	G	1: 150,408,846	E428G	possibly damaging	Het
Trps1	T	A	15: 50,822,373	D802V	possibly damaging	Het
Usp17lc	T	A	7: 103,415,109	S6T	probably benign	Het
Vangl1	C	A	3: 102,158,442	R459L		Het
Vmn1r43	T	C	6: 89,869,955	Y183C	probably damaging	Het
Vmn2r110	C	T	17: 20,574,298	C703Y	probably damaging	Het
Vmn2r54	T	C	7: 12,629,775	Q397R	possibly damaging	Het
Vmn2r88	T	C	14: 51,418,806	V824A	probably damaging	Het
Vmn2r89	A	T	14: 51,455,713	Y79F	probably benign	Het
Vnn1	T	C	10: 23,904,586	S491P	probably benign	Het
Zbbx	A	G	3: 75,061,434	F572L	unknown	Het
Zc3h4	A	T	7: 16,435,014	Q1091L	unknown	Het
Zfp503	C	T	14: 21,987,218	V106I	possibly damaging	Het
Zfp874a	T	C	13: 67,442,528	T346A	probably benign	Het

Other mutations in Cnga3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01636:Cnga3	APN	1	37260793	missense	possibly damaging	0.89
IGL01677:Cnga3	APN	1	37244918	nonsense	probably null
IGL02475:Cnga3	APN	1	37257991	critical splice acceptor site	probably null
IGL03145:Cnga3	APN	1	37261674	missense	probably damaging	1.00
R1557:Cnga3	UTSW	1	37260985	missense	probably damaging	1.00
R1622:Cnga3	UTSW	1	37244828	splice site	probably benign
R1678:Cnga3	UTSW	1	37261498	missense	possibly damaging	0.94
R1938:Cnga3	UTSW	1	37261873	missense	possibly damaging	0.95
R2968:Cnga3	UTSW	1	37261078	missense	probably damaging	1.00
R2969:Cnga3	UTSW	1	37261078	missense	probably damaging	1.00
R3406:Cnga3	UTSW	1	37262065	missense	probably benign	0.00
R3694:Cnga3	UTSW	1	37261740	missense	probably damaging	1.00
R4079:Cnga3	UTSW	1	37241865	missense	possibly damaging	0.70
R4850:Cnga3	UTSW	1	37258006	nonsense	probably null
R4907:Cnga3	UTSW	1	37241942	critical splice donor site	probably null
R5802:Cnga3	UTSW	1	37260925	missense	probably damaging	0.98
R6135:Cnga3	UTSW	1	37232237	start gained	probably benign
R6586:Cnga3	UTSW	1	37261278	missense	probably damaging	0.99
R6997:Cnga3	UTSW	1	37244884	missense	probably benign	0.34
R7630:Cnga3	UTSW	1	37258046	missense	probably damaging	1.00
R7799:Cnga3	UTSW	1	37261771	missense	probably damaging	1.00
R8552:Cnga3	UTSW	1	37244979	missense	probably benign
R8968:Cnga3	UTSW	1	37261379	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- CACAATCTCTAATGGGTTTGTCGG -3'
(R):5'- GACCAAGTTCCCTATCCTGAAC -3'

Sequencing Primer
(F):5'- AGCTTATACAAGGCCCTGGGTTC -3'
(R):5'- CCTATCCTGAACACGTTGGGGTAG -3'

Posted On

2021-07-15