Mutagenetix > Incidental Mutation

Incidental Mutation 'R4079:Cnga3'

316727

Institutional Source

Beutler Lab

Gene Symbol

Cnga3

Ensembl Gene

ENSMUSG00000026114

Gene Name

cyclic nucleotide gated channel alpha 3

Synonyms

CNG3

MMRRC Submission

040976-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4079 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

37257317-37302465 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37280946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 47 (Q47L)

Ref Sequence

ENSEMBL: ENSMUSP00000142235 (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

possibly damaging
Transcript: ENSMUST00000191981
AA Change: Q47L

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)

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
AA Change: Q47L

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

SMART Domains

Protein: ENSMUSP00000142175
Gene: ENSMUSG00000026114
AA Change: Q47L

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

Meta Mutation Damage Score

0.1345

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	C	G	4: 126,247,473 (GRCm39)		probably null	Het
Ankfy1	C	A	11: 72,580,835 (GRCm39)		probably benign	Het
Ap4b1	T	A	3: 103,720,694 (GRCm39)	N121K	probably damaging	Het
Arhgef12	T	C	9: 42,886,588 (GRCm39)	M1131V	probably damaging	Het
Arl5c	A	T	11: 97,884,327 (GRCm39)	I88N	probably damaging	Het
Armc9	A	T	1: 86,140,851 (GRCm39)		probably benign	Het
Bnc1	T	C	7: 81,623,508 (GRCm39)	E573G	probably damaging	Het
Btaf1	A	G	19: 36,963,879 (GRCm39)	T817A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,169,236 (GRCm39)	V293A	probably benign	Het
Cadps	C	T	14: 12,457,702 (GRCm38)	A1060T	probably benign	Het
Cbfa2t3	A	G	8: 123,374,434 (GRCm39)		probably null	Het
Ccdc18	C	T	5: 108,306,394 (GRCm39)	Q270*	probably null	Het
Cdc45	A	T	16: 18,630,110 (GRCm39)	V19D	probably damaging	Het
Cfap57	C	A	4: 118,456,194 (GRCm39)	S500I	probably benign	Het
Corin	T	C	5: 72,661,226 (GRCm39)	D89G	probably benign	Het
Cox16	A	T	12: 81,521,109 (GRCm39)		probably benign	Het
Cyp2a4	A	G	7: 26,006,791 (GRCm39)	N50S	probably benign	Het
Diaph1	T	A	18: 37,986,636 (GRCm39)	E1116D	possibly damaging	Het
Dlg5	T	C	14: 24,198,328 (GRCm39)	D1535G	possibly damaging	Het
Enpp1	A	G	10: 24,544,905 (GRCm39)		probably null	Het
F13b	T	A	1: 139,429,508 (GRCm39)	F9I	unknown	Het
Fcer1a	C	T	1: 173,052,920 (GRCm39)	C36Y	probably damaging	Het
Fcho2	A	G	13: 98,892,120 (GRCm39)	V318A	probably damaging	Het
Fzd9	A	G	5: 135,278,490 (GRCm39)	V465A	probably benign	Het
Hbs1l	T	C	10: 21,228,501 (GRCm39)	V493A	probably damaging	Het
Hgs	T	A	11: 120,373,874 (GRCm39)	S723T	probably benign	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Kpna7	A	G	5: 144,942,737 (GRCm39)	I83T	possibly damaging	Het
Llgl1	C	A	11: 60,601,110 (GRCm39)		probably null	Het
Lrig3	A	C	10: 125,845,656 (GRCm39)	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Mfn1	T	G	3: 32,596,998 (GRCm39)	L152W	probably damaging	Het
Mog	A	G	17: 37,323,302 (GRCm39)	F212S	probably damaging	Het
Mpeg1	A	G	19: 12,439,634 (GRCm39)	N364S	probably damaging	Het
Mtmr3	C	T	11: 4,441,057 (GRCm39)	R531Q	probably damaging	Het
Mx2	A	G	16: 97,357,236 (GRCm39)	N443S	probably damaging	Het
Nfatc3	T	C	8: 106,806,123 (GRCm39)	Y323H	probably damaging	Het
Nup188	G	A	2: 30,199,890 (GRCm39)	D305N	probably damaging	Het
Obscn	A	G	11: 58,929,189 (GRCm39)	V6145A	probably benign	Het
Or52x1	A	T	7: 104,853,228 (GRCm39)	H107Q	probably damaging	Het
Or8u10	A	G	2: 85,915,656 (GRCm39)	V155A	possibly damaging	Het
Patl1	C	T	19: 11,908,994 (GRCm39)	A467V	probably damaging	Het
Pdss2	A	T	10: 43,278,518 (GRCm39)	M342L	probably benign	Het
Phax	A	G	18: 56,709,051 (GRCm39)	N183S	possibly damaging	Het
Pnck	A	T	X: 72,701,761 (GRCm39)	V93E	probably damaging	Het
Prol1	A	G	5: 88,476,075 (GRCm39)	N155S	unknown	Het
Ptprk	G	A	10: 28,139,508 (GRCm39)	V78I	probably benign	Het
Ptpru	A	T	4: 131,526,021 (GRCm39)		probably null	Het
Ptprv	A	G	1: 135,038,168 (GRCm39)		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,838 (GRCm39)	N233S	probably damaging	Het
Rapgefl1	A	G	11: 98,740,803 (GRCm39)	T552A	probably benign	Het
Rasgrp1	A	G	2: 117,115,510 (GRCm39)	S693P	probably benign	Het
Scyl2	A	T	10: 89,476,458 (GRCm39)	M889K	probably benign	Het
Serpina3a	C	T	12: 104,085,934 (GRCm39)	Q320*	probably null	Het
Slc12a1	A	T	2: 125,042,543 (GRCm39)	N733I	possibly damaging	Het
Snap47	C	T	11: 59,319,377 (GRCm39)	V254I	probably benign	Het
Speer4e2	A	T	5: 15,027,663 (GRCm39)	L71Q	probably damaging	Het
St6galnac2	A	T	11: 116,572,724 (GRCm39)	L244Q	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tjp2	A	T	19: 24,086,182 (GRCm39)	V780E	possibly damaging	Het
Tns1	G	A	1: 74,034,467 (GRCm39)	R192C	probably damaging	Het
Trav6-3	T	C	14: 53,667,537 (GRCm39)	L3P	possibly damaging	Het
Ung	G	T	5: 114,268,684 (GRCm39)		probably null	Het
Usp32	T	A	11: 84,930,055 (GRCm39)	Y574F	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TCCGGGGTAAGATTTGCAGC -3'
(R):5'- AGAACAGAACTAGTCACTGTTAGG -3'

Sequencing Primer
(F):5'- TAAGATTTGCAGCAGACCCTG -3'
(R):5'- CAGAACTAGTCACTGTTAGGGGATTC -3'

Posted On

2015-05-15