Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01636:Cnga3'

92993

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cnga3

Ensembl Gene

ENSMUSG00000026114

Gene Name

cyclic nucleotide gated channel alpha 3

Synonyms

CNG3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01636

Quality Score

Status

Chromosome

Chromosomal Location

37257317-37302465 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37299874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 236 (I236N)

Ref Sequence

ENSEMBL: ENSMUSP00000142175 (fasta)

Gene Model

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

AlphaFold

Q9JJZ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027288
AA Change: I198N

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027288
Gene: ENSMUSG00000026114
AA Change: I198N

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: I198N

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142075
Gene: ENSMUSG00000026114
AA Change: I198N

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: I236N

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142175
Gene: ENSMUSG00000026114
AA Change: I236N

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

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	C	12: 81,466,723 (GRCm39)	T633A	possibly damaging	Het
Adgrd1	G	T	5: 129,219,516 (GRCm39)		probably benign	Het
Bmp7	T	C	2: 172,717,001 (GRCm39)		probably benign	Het
Ccdc54	A	G	16: 50,410,277 (GRCm39)	*330Q	probably null	Het
Chd5	A	T	4: 152,469,110 (GRCm39)	K1812*	probably null	Het
Ddost	T	G	4: 138,036,707 (GRCm39)	D135E	possibly damaging	Het
Dicer1	T	C	12: 104,688,500 (GRCm39)	D359G	probably damaging	Het
Dnah17	A	C	11: 117,931,882 (GRCm39)	S3697A	probably benign	Het
Dnttip2	G	A	3: 122,076,123 (GRCm39)	G685D	possibly damaging	Het
Dst	T	G	1: 34,254,650 (GRCm39)	S4552R	probably damaging	Het
Ebf2	G	A	14: 67,476,927 (GRCm39)	E157K	probably damaging	Het
Ehbp1	C	T	11: 22,039,584 (GRCm39)	V839M	probably benign	Het
Ehmt1	G	T	2: 24,729,620 (GRCm39)	T639K	probably damaging	Het
Esyt2	T	C	12: 116,329,550 (GRCm39)		probably null	Het
Etv6	T	C	6: 134,225,350 (GRCm39)	S194P	probably benign	Het
Fam184b	T	C	5: 45,741,637 (GRCm39)	H198R	probably benign	Het
Fam210b	T	C	2: 172,193,460 (GRCm39)	F91S	probably damaging	Het
Fam81a	G	A	9: 70,006,434 (GRCm39)	Q193*	probably null	Het
Fto	A	G	8: 92,135,969 (GRCm39)	D79G	probably damaging	Het
Haspin	C	T	11: 73,028,231 (GRCm39)	R286H	possibly damaging	Het
Hmcn1	C	T	1: 150,455,984 (GRCm39)	C5312Y	probably damaging	Het
Ik	T	A	18: 36,884,254 (GRCm39)	D245E	possibly damaging	Het
Itga1	A	G	13: 115,143,484 (GRCm39)	V349A	possibly damaging	Het
Kdm8	T	C	7: 125,060,377 (GRCm39)	V400A	probably damaging	Het
Larp1b	G	T	3: 40,924,913 (GRCm39)	R177L	probably benign	Het
Lifr	T	G	15: 7,208,499 (GRCm39)		probably benign	Het
Lrrn2	T	C	1: 132,864,959 (GRCm39)	L8P	possibly damaging	Het
Marcksl1	T	A	4: 129,408,587 (GRCm39)	D55E	probably benign	Het
Med12	C	A	X: 100,318,795 (GRCm39)	S74R	probably damaging	Het
Mtarc2	T	C	1: 184,564,838 (GRCm39)	K231E	probably benign	Het
Or52s1	C	A	7: 102,861,384 (GRCm39)	R95S	probably benign	Het
Or6c35	A	T	10: 129,168,752 (GRCm39)	M1L	probably damaging	Het
Or7e170	A	G	9: 19,795,484 (GRCm39)	V39A	probably benign	Het
Or8k39	G	A	2: 86,563,945 (GRCm39)	Q4*	probably null	Het
Orc3	A	C	4: 34,595,096 (GRCm39)	L233R	probably damaging	Het
Pik3cd	A	G	4: 149,738,772 (GRCm39)	M715T	possibly damaging	Het
Prss43	T	A	9: 110,656,505 (GRCm39)	L64Q	possibly damaging	Het
Pyroxd2	C	A	19: 42,726,771 (GRCm39)	G209V	probably benign	Het
Rab3b	A	G	4: 108,797,916 (GRCm39)	D198G	possibly damaging	Het
Rrbp1	A	T	2: 143,789,815 (GRCm39)		probably benign	Het
Smg6	T	C	11: 74,825,929 (GRCm39)		probably null	Het
Ssrp1	T	C	2: 84,871,443 (GRCm39)		probably benign	Het
Strip2	C	A	6: 29,931,192 (GRCm39)	T381K	probably benign	Het
Svep1	A	T	4: 58,116,622 (GRCm39)	L876Q	possibly damaging	Het
Tle4	T	C	19: 14,429,897 (GRCm39)	I625V	probably damaging	Het
Tnfrsf23	T	C	7: 143,233,736 (GRCm39)	T81A	probably damaging	Het
Ttc41	A	G	10: 86,612,542 (GRCm39)	K1272E	probably benign	Het
Usp3	A	G	9: 66,469,834 (GRCm39)		probably null	Het
Vmn1r121	C	T	7: 20,832,282 (GRCm39)	V53M	probably benign	Het
Vmn1r65	A	T	7: 6,011,720 (GRCm39)	S171R	probably benign	Het
Vmn2r4	A	T	3: 64,313,657 (GRCm39)	D441E	probably benign	Het
Vps13d	A	T	4: 144,801,618 (GRCm39)	H2353Q	probably damaging	Het
Vwa8	T	C	14: 79,435,794 (GRCm39)	S1835P	possibly damaging	Het

Other mutations in Cnga3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01677:Cnga3	APN	1	37,283,999 (GRCm39)	nonsense	probably null
IGL02475:Cnga3	APN	1	37,297,072 (GRCm39)	critical splice acceptor site	probably null
IGL03145:Cnga3	APN	1	37,300,755 (GRCm39)	missense	probably damaging	1.00
R1557:Cnga3	UTSW	1	37,300,066 (GRCm39)	missense	probably damaging	1.00
R1622:Cnga3	UTSW	1	37,283,909 (GRCm39)	splice site	probably benign
R1678:Cnga3	UTSW	1	37,300,579 (GRCm39)	missense	possibly damaging	0.94
R1938:Cnga3	UTSW	1	37,300,954 (GRCm39)	missense	possibly damaging	0.95
R2968:Cnga3	UTSW	1	37,300,159 (GRCm39)	missense	probably damaging	1.00
R2969:Cnga3	UTSW	1	37,300,159 (GRCm39)	missense	probably damaging	1.00
R3406:Cnga3	UTSW	1	37,301,146 (GRCm39)	missense	probably benign	0.00
R3694:Cnga3	UTSW	1	37,300,821 (GRCm39)	missense	probably damaging	1.00
R4079:Cnga3	UTSW	1	37,280,946 (GRCm39)	missense	possibly damaging	0.70
R4850:Cnga3	UTSW	1	37,297,087 (GRCm39)	nonsense	probably null
R4907:Cnga3	UTSW	1	37,281,023 (GRCm39)	critical splice donor site	probably null
R5802:Cnga3	UTSW	1	37,300,006 (GRCm39)	missense	probably damaging	0.98
R6135:Cnga3	UTSW	1	37,271,318 (GRCm39)	start gained	probably benign
R6586:Cnga3	UTSW	1	37,300,359 (GRCm39)	missense	probably damaging	0.99
R6997:Cnga3	UTSW	1	37,283,965 (GRCm39)	missense	probably benign	0.34
R7630:Cnga3	UTSW	1	37,297,127 (GRCm39)	missense	probably damaging	1.00
R7799:Cnga3	UTSW	1	37,300,852 (GRCm39)	missense	probably damaging	1.00
R8552:Cnga3	UTSW	1	37,284,060 (GRCm39)	missense	probably benign
R8859:Cnga3	UTSW	1	37,299,852 (GRCm39)	missense	possibly damaging	0.91
R8968:Cnga3	UTSW	1	37,300,460 (GRCm39)	missense	probably benign	0.23

Posted On

2013-12-09