Mutagenetix > Incidental Mutation

Incidental Mutation 'R6135:Cnga3'

488270

Institutional Source

Beutler Lab

Gene Symbol

Cnga3

Ensembl Gene

ENSMUSG00000026114

Gene Name

cyclic nucleotide gated channel alpha 3

Synonyms

CNG3

MMRRC Submission

044282-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6135 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37257317-37302465 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 37271318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142175 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027288] [ENSMUST00000191981] [ENSMUST00000194195] [ENSMUST00000195272]

AlphaFold

Q9JJZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000027288

SMART Domains

Protein: ENSMUSP00000027288
Gene: ENSMUSG00000026114

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

probably benign
Transcript: ENSMUST00000191981

Predicted Effect

probably benign
Transcript: ENSMUST00000194195

SMART Domains

Protein: ENSMUSP00000142075
Gene: ENSMUSG00000026114

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

probably benign
Transcript: ENSMUST00000195272

SMART Domains

Protein: ENSMUSP00000142175
Gene: ENSMUSG00000026114

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,402,335 (GRCm39)	E95G	probably damaging	Het
Abca4	C	T	3: 121,932,096 (GRCm39)	T250I	possibly damaging	Het
Ahi1	G	A	10: 20,845,020 (GRCm39)	R375H	probably benign	Het
Aimp1	T	C	3: 132,377,844 (GRCm39)	K174E	probably benign	Het
Aire	A	G	10: 77,878,801 (GRCm39)	L82P	probably damaging	Het
Akap13	T	A	7: 75,259,656 (GRCm39)	V760D	possibly damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Carf	C	T	1: 60,187,122 (GRCm39)	S540F	probably damaging	Het
Ccdc171	T	A	4: 83,473,087 (GRCm39)	M172K	probably benign	Het
Chpt1	A	T	10: 88,318,145 (GRCm39)	V199E	possibly damaging	Het
Cldn16	G	A	16: 26,293,018 (GRCm39)	D65N	possibly damaging	Het
Col14a1	A	G	15: 55,244,246 (GRCm39)	T440A	unknown	Het
Creb3l3	A	G	10: 80,921,552 (GRCm39)	I331T	probably benign	Het
Cul9	T	C	17: 46,832,379 (GRCm39)	T1410A	probably benign	Het
Dnm1	T	A	2: 32,223,075 (GRCm39)		probably null	Het
Fhl5	A	T	4: 25,214,716 (GRCm39)	Y20*	probably null	Het
Fignl1	T	C	11: 11,752,557 (GRCm39)	D166G	probably benign	Het
Ghr	T	C	15: 3,355,447 (GRCm39)	I279V	probably benign	Het
Gm1979	T	G	5: 26,205,298 (GRCm39)	S180R	probably damaging	Het
Hydin	T	C	8: 111,189,292 (GRCm39)	V1232A	possibly damaging	Het
Ifnar1	A	G	16: 91,298,508 (GRCm39)		probably null	Het
Inpp5d	A	G	1: 87,548,119 (GRCm39)		probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnh2	T	A	5: 24,526,791 (GRCm39)	S1002C	probably damaging	Het
Krt87	T	A	15: 101,385,415 (GRCm39)	E319V	probably damaging	Het
Lbp	A	G	2: 158,159,469 (GRCm39)	I201V	probably benign	Het
Man1a2	G	A	3: 100,592,248 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,188,326 (GRCm39)	T996A	possibly damaging	Het
Nat10	A	G	2: 103,573,661 (GRCm39)	L319P	probably damaging	Het
Nelfa	A	G	5: 34,056,620 (GRCm39)		probably null	Het
Or5b97	A	C	19: 12,878,803 (GRCm39)	Y114D	probably damaging	Het
Pcdha11	T	A	18: 37,138,870 (GRCm39)	N166K	probably damaging	Het
Pcdha6	C	A	18: 37,102,269 (GRCm39)	N487K	probably damaging	Het
Pcsk2	A	G	2: 143,415,460 (GRCm39)	D91G	possibly damaging	Het
Pigp	A	G	16: 94,171,065 (GRCm39)	F22L	probably benign	Het
Pnpla8	A	C	12: 44,329,670 (GRCm39)	N74T	probably benign	Het
Ppargc1b	T	C	18: 61,448,980 (GRCm39)	K114R	probably damaging	Het
Ppfia2	A	G	10: 106,693,430 (GRCm39)	D645G	probably damaging	Het
Rnf213	G	A	11: 119,332,854 (GRCm39)	V2688I	probably benign	Het
Rnf43	A	G	11: 87,622,951 (GRCm39)	H557R	probably damaging	Het
Rp1l1	C	T	14: 64,267,545 (GRCm39)	P1044S	probably damaging	Het
Rrp9	G	A	9: 106,360,221 (GRCm39)	D210N	probably damaging	Het
Scin	G	T	12: 40,129,807 (GRCm39)	Q329K	possibly damaging	Het
Scn7a	T	A	2: 66,534,244 (GRCm39)	H477L	probably benign	Het
Slc26a8	A	T	17: 28,888,914 (GRCm39)	M195K	probably benign	Het
Spata13	A	G	14: 60,993,877 (GRCm39)	K1110E	probably damaging	Het
Spata24	T	A	18: 35,793,503 (GRCm39)	E103V	probably damaging	Het
Srek1	T	C	13: 103,910,894 (GRCm39)	N25S	probably damaging	Het
Strada	T	C	11: 106,064,140 (GRCm39)	Y59C	probably damaging	Het
Tnrc6c	T	C	11: 117,626,831 (GRCm39)	W1143R	probably damaging	Het
Trip12	A	T	1: 84,738,559 (GRCm39)	D765E	probably benign	Het
Ttbk2	G	A	2: 120,580,798 (GRCm39)	R444C	probably damaging	Het
Ush2a	T	A	1: 188,644,303 (GRCm39)	I4555N	possibly damaging	Het
Vcan	C	T	13: 89,838,045 (GRCm39)	E2500K	probably benign	Het
Vps16	A	G	2: 130,280,573 (GRCm39)	Y200C	possibly damaging	Het
Wdfy4	T	A	14: 32,693,668 (GRCm39)	H2719L	probably damaging	Het
Zfhx2	T	C	14: 55,311,653 (GRCm39)	D347G	possibly damaging	Het
Zfp653	G	A	9: 21,969,558 (GRCm39)	T236I	probably damaging	Het
Zscan4-ps1	A	T	7: 10,799,913 (GRCm39)	H325Q	probably benign	Het

Other mutations in Cnga3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01636:Cnga3	APN	1	37,299,874 (GRCm39)	missense	possibly damaging	0.89
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
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

Predicted Primers

Posted On

2017-10-10