Mutagenetix > Incidental Mutation

Incidental Mutation 'R4946:Cnga1'

383403

Institutional Source

Beutler Lab

Gene Symbol

Cnga1

Ensembl Gene

ENSMUSG00000067220

Gene Name

cyclic nucleotide gated channel alpha 1

Synonyms

Cncg

MMRRC Submission

042543-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

R4946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72761039-72800095 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72762107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 469 (V469A)

Ref Sequence

ENSEMBL: ENSMUSP00000143881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087213] [ENSMUST00000169997] [ENSMUST00000201463]

AlphaFold

P29974

Predicted Effect

probably damaging
Transcript: ENSMUST00000087213
AA Change: V469A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084464
Gene: ENSMUSG00000067220
AA Change: V469A

Domain	Start	End	E-Value	Type
coiled coil region	111	150	N/A	INTRINSIC
Pfam:Ion_trans	156	400	3e-33	PFAM
cNMP	471	595	3.31e-25	SMART
PDB:3SWF\|C	615	684	6e-31	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000169997
AA Change: V469A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132329
Gene: ENSMUSG00000067220
AA Change: V469A

Domain	Start	End	E-Value	Type
coiled coil region	111	150	N/A	INTRINSIC
Pfam:Ion_trans	194	388	4.7e-19	PFAM
cNMP	471	595	3.31e-25	SMART
PDB:3SWF\|C	615	684	6e-31	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000201463
AA Change: V469A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143881
Gene: ENSMUSG00000067220
AA Change: V469A

Domain	Start	End	E-Value	Type
coiled coil region	111	150	N/A	INTRINSIC
Pfam:Ion_trans	156	400	3e-33	PFAM
cNMP	471	595	3.31e-25	SMART
PDB:3SWF\|C	615	684	6e-31	PDB

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,977,300 (GRCm39)	D98G	probably damaging	Het
Adgre1	G	A	17: 57,750,918 (GRCm39)	V531I	probably benign	Het
Aldoart2	A	G	12: 55,612,801 (GRCm39)	Q242R	probably benign	Het
Ank2	A	T	3: 126,735,589 (GRCm39)		probably benign	Het
Ank3	C	T	10: 69,733,947 (GRCm39)	A737V	probably damaging	Het
Ankle2	A	G	5: 110,401,704 (GRCm39)	I789V	probably benign	Het
Ankrd13c	T	C	3: 157,711,410 (GRCm39)	V510A	probably damaging	Het
Arid1b	T	A	17: 5,393,118 (GRCm39)	M2216K	probably damaging	Het
Arrdc1	A	G	2: 24,815,860 (GRCm39)	V380A	probably benign	Het
B3galt1	C	A	2: 67,948,913 (GRCm39)	N209K	possibly damaging	Het
Cd300c2	A	T	11: 114,887,731 (GRCm39)	C224S	probably benign	Het
Cdk4	T	C	10: 126,900,759 (GRCm39)		probably null	Het
Cdk5rap1	T	C	2: 154,210,794 (GRCm39)	T115A	possibly damaging	Het
Clvs1	A	T	4: 9,281,831 (GRCm39)	R92*	probably null	Het
Ctns	A	G	11: 73,087,479 (GRCm39)	F16L	probably benign	Het
Dlg5	A	T	14: 24,204,429 (GRCm39)	C1299S	probably damaging	Het
Dnah3	T	A	7: 119,530,783 (GRCm39)	Y3690F	probably damaging	Het
Dnah5	A	G	15: 28,326,703 (GRCm39)	M1971V	probably damaging	Het
Dnah5	G	A	15: 28,388,050 (GRCm39)	V3170M	probably damaging	Het
Dpp8	T	C	9: 64,963,200 (GRCm39)	Y485H	probably benign	Het
Dsc2	T	C	18: 20,183,214 (GRCm39)	D68G	probably damaging	Het
Eeig2	A	G	3: 108,887,544 (GRCm39)	V240A	probably benign	Het
Elavl1	A	T	8: 4,351,752 (GRCm39)	D121E	probably benign	Het
Ermap	A	G	4: 119,040,505 (GRCm39)	V311A	probably damaging	Het
Fbxw11	C	T	11: 32,689,226 (GRCm39)	R437C	probably damaging	Het
Gas2l3	T	C	10: 89,249,634 (GRCm39)	M495V	probably benign	Het
Hacd1	C	T	2: 14,049,948 (GRCm39)		probably null	Het
Itgav	A	G	2: 83,619,327 (GRCm39)	R596G	probably benign	Het
Kars1	T	C	8: 112,728,352 (GRCm39)	H215R	possibly damaging	Het
Kif26a	G	A	12: 112,144,228 (GRCm39)	R1494H	probably damaging	Het
Klf12	G	A	14: 100,260,393 (GRCm39)	S112L	possibly damaging	Het
Krt77	T	C	15: 101,777,998 (GRCm39)	Y19C	unknown	Het
Lrrc4c	A	G	2: 97,460,834 (GRCm39)	T487A	probably benign	Het
Lrrn1	A	G	6: 107,545,851 (GRCm39)	M550V	probably benign	Het
Lsr	C	A	7: 30,657,634 (GRCm39)	R442L	probably benign	Het
Lysmd2	A	C	9: 75,542,728 (GRCm39)	T112P	probably damaging	Het
Mctp2	A	T	7: 71,909,017 (GRCm39)	S99T	probably benign	Het
Mettl4	A	G	17: 95,047,960 (GRCm39)	V227A	probably benign	Het
Mill2	T	A	7: 18,590,608 (GRCm39)		probably null	Het
Mpp3	T	C	11: 101,895,848 (GRCm39)	N476D	probably benign	Het
Mtmr6	C	T	14: 60,517,638 (GRCm39)	P83L	possibly damaging	Het
Myh3	T	C	11: 66,984,364 (GRCm39)	I1067T	probably benign	Het
Myh9	C	A	15: 77,657,540 (GRCm39)	Q1068H	probably damaging	Het
Narf	T	A	11: 121,141,179 (GRCm39)	H304Q	possibly damaging	Het
Nfatc2ip	G	T	7: 125,995,784 (GRCm39)	P35Q	possibly damaging	Het
Npas3	C	A	12: 54,112,618 (GRCm39)	P426Q	probably damaging	Het
Or10aa3	T	G	1: 173,878,400 (GRCm39)	S154A	possibly damaging	Het
Or4e1	G	A	14: 52,700,740 (GRCm39)	T242I	probably damaging	Het
Or4f4b	T	C	2: 111,314,311 (GRCm39)	Y207H	possibly damaging	Het
Or51i1	T	A	7: 103,671,219 (GRCm39)	Q102L	probably damaging	Het
Or5p5	A	G	7: 107,414,589 (GRCm39)	H266R	possibly damaging	Het
Pcdh10	A	T	3: 45,333,917 (GRCm39)	E77V	probably damaging	Het
Pcnt	C	T	10: 76,192,019 (GRCm39)	R2764Q	probably damaging	Het
Pgbd5	T	C	8: 125,097,324 (GRCm39)	D493G	possibly damaging	Het
Piezo2	G	T	18: 63,290,333 (GRCm39)	T142N	probably benign	Het
Plcb1	A	G	2: 135,187,015 (GRCm39)	I761V	probably benign	Het
Plekhg4	T	G	8: 106,108,628 (GRCm39)	D1196E	probably null	Het
Pparg	A	G	6: 115,427,989 (GRCm39)	K159E	probably damaging	Het
Psmb1	A	T	17: 15,718,478 (GRCm39)	M16K	probably benign	Het
Ptprq	T	C	10: 107,361,595 (GRCm39)	I2139V	probably benign	Het
Ralgapb	T	A	2: 158,282,887 (GRCm39)	S239T	probably damaging	Het
Serpina11	A	G	12: 103,950,923 (GRCm39)	V266A	probably damaging	Het
Sf3a2	C	G	10: 80,639,947 (GRCm39)		probably benign	Het
Smim18	T	C	8: 34,232,587 (GRCm39)	T11A	possibly damaging	Het
Snx6	G	A	12: 54,817,528 (GRCm39)	T7I	probably damaging	Het
Srcin1	T	A	11: 97,442,768 (GRCm39)	D75V	probably damaging	Het
Srsf12	T	A	4: 33,231,174 (GRCm39)	S223T	probably damaging	Het
Taf4b	G	T	18: 14,946,599 (GRCm39)	C474F	probably damaging	Het
Tango6	T	A	8: 107,444,722 (GRCm39)	C542*	probably null	Het
Tbc1d24	A	G	17: 24,427,510 (GRCm39)	S151P	possibly damaging	Het
Tssk6	T	C	8: 70,355,714 (GRCm39)	S253P	probably benign	Het
Ttc39c	G	A	18: 12,857,999 (GRCm39)	W300*	probably null	Het
Ttc6	T	A	12: 57,689,926 (GRCm39)	W539R	probably benign	Het
Ttn	T	C	2: 76,582,770 (GRCm39)	T22708A	probably damaging	Het
Ttn	C	A	2: 76,749,053 (GRCm39)	E3999*	probably null	Het
Vill	T	G	9: 118,897,508 (GRCm39)	L261R	probably damaging	Het
Vmn1r20	T	C	6: 57,409,159 (GRCm39)	S162P	probably damaging	Het
Zfp516	T	C	18: 82,974,219 (GRCm39)	I139T	probably benign	Het

Other mutations in Cnga1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02332:Cnga1	APN	5	72,761,829 (GRCm39)	missense	probably damaging	1.00
IGL02345:Cnga1	APN	5	72,762,615 (GRCm39)	missense	probably benign	0.00
IGL02354:Cnga1	APN	5	72,774,061 (GRCm39)	splice site	probably null
IGL02361:Cnga1	APN	5	72,774,061 (GRCm39)	splice site	probably null
IGL03025:Cnga1	APN	5	72,762,756 (GRCm39)	missense	probably benign
IGL03257:Cnga1	APN	5	72,768,205 (GRCm39)	missense	probably damaging	1.00
tintoretto	UTSW	5	72,766,843 (GRCm39)	missense	probably damaging	1.00
IGL03046:Cnga1	UTSW	5	72,761,681 (GRCm39)	missense	probably benign	0.01
R0238:Cnga1	UTSW	5	72,762,374 (GRCm39)	missense	probably damaging	0.97
R0238:Cnga1	UTSW	5	72,762,374 (GRCm39)	missense	probably damaging	0.97
R0352:Cnga1	UTSW	5	72,761,846 (GRCm39)	missense	possibly damaging	0.95
R1292:Cnga1	UTSW	5	72,762,026 (GRCm39)	missense	probably damaging	1.00
R1386:Cnga1	UTSW	5	72,769,526 (GRCm39)	nonsense	probably null
R1903:Cnga1	UTSW	5	72,774,068 (GRCm39)	missense	possibly damaging	0.94
R2096:Cnga1	UTSW	5	72,776,404 (GRCm39)	missense	possibly damaging	0.85
R2097:Cnga1	UTSW	5	72,776,404 (GRCm39)	missense	possibly damaging	0.85
R2101:Cnga1	UTSW	5	72,776,404 (GRCm39)	missense	possibly damaging	0.85
R2276:Cnga1	UTSW	5	72,776,404 (GRCm39)	missense	possibly damaging	0.85
R2279:Cnga1	UTSW	5	72,776,404 (GRCm39)	missense	possibly damaging	0.85
R2507:Cnga1	UTSW	5	72,776,404 (GRCm39)	missense	possibly damaging	0.85
R2508:Cnga1	UTSW	5	72,776,404 (GRCm39)	missense	possibly damaging	0.85
R3005:Cnga1	UTSW	5	72,762,450 (GRCm39)	missense	probably damaging	1.00
R3779:Cnga1	UTSW	5	72,762,126 (GRCm39)	missense	probably damaging	1.00
R4357:Cnga1	UTSW	5	72,775,595 (GRCm39)	missense	probably damaging	1.00
R4399:Cnga1	UTSW	5	72,761,724 (GRCm39)	missense	probably damaging	0.98
R4615:Cnga1	UTSW	5	72,762,117 (GRCm39)	missense	probably damaging	1.00
R5229:Cnga1	UTSW	5	72,766,843 (GRCm39)	missense	probably damaging	1.00
R5474:Cnga1	UTSW	5	72,762,536 (GRCm39)	missense	probably damaging	1.00
R5566:Cnga1	UTSW	5	72,775,593 (GRCm39)	missense	probably damaging	0.98
R5754:Cnga1	UTSW	5	72,762,615 (GRCm39)	missense	probably benign	0.00
R5899:Cnga1	UTSW	5	72,776,404 (GRCm39)	missense	possibly damaging	0.85
R5906:Cnga1	UTSW	5	72,768,201 (GRCm39)	missense	probably benign	0.19
R5954:Cnga1	UTSW	5	72,762,221 (GRCm39)	missense	probably damaging	0.99
R5997:Cnga1	UTSW	5	72,761,918 (GRCm39)	missense	probably damaging	0.98
R6087:Cnga1	UTSW	5	72,768,155 (GRCm39)	missense	probably damaging	1.00
R6365:Cnga1	UTSW	5	72,762,288 (GRCm39)	missense	probably benign	0.00
R6391:Cnga1	UTSW	5	72,769,702 (GRCm39)	critical splice donor site	probably null
R6525:Cnga1	UTSW	5	72,775,574 (GRCm39)	missense	probably damaging	1.00
R7046:Cnga1	UTSW	5	72,786,696 (GRCm39)	intron	probably benign
R7229:Cnga1	UTSW	5	72,775,592 (GRCm39)	missense	probably benign
R7299:Cnga1	UTSW	5	72,762,775 (GRCm39)	missense	probably benign	0.20
R7367:Cnga1	UTSW	5	72,762,701 (GRCm39)	missense	possibly damaging	0.75
R7425:Cnga1	UTSW	5	72,766,868 (GRCm39)	missense	probably benign	0.12
R7449:Cnga1	UTSW	5	72,762,647 (GRCm39)	missense	probably benign	0.29
R7538:Cnga1	UTSW	5	72,769,723 (GRCm39)	missense	probably benign	0.24
R7808:Cnga1	UTSW	5	72,761,616 (GRCm39)	missense	possibly damaging	0.69
R7922:Cnga1	UTSW	5	72,762,225 (GRCm39)	missense	possibly damaging	0.81
R7938:Cnga1	UTSW	5	72,761,597 (GRCm39)	missense	probably benign	0.27
R7994:Cnga1	UTSW	5	72,762,003 (GRCm39)	missense	probably damaging	1.00
R8249:Cnga1	UTSW	5	72,762,737 (GRCm39)	missense	probably benign	0.02
R8690:Cnga1	UTSW	5	72,761,835 (GRCm39)	missense	probably benign	0.15
R9689:Cnga1	UTSW	5	72,762,170 (GRCm39)	missense	probably benign	0.10
X0062:Cnga1	UTSW	5	72,761,828 (GRCm39)	missense	probably damaging	1.00
Z1177:Cnga1	UTSW	5	72,762,873 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACTGTGTAATTCCGTCATCTGC -3'
(R):5'- TCCAATATGAATGCAGCCCG -3'

Sequencing Primer
(F):5'- TCTGCCACCACAGCAAGTTTG -3'
(R):5'- GCCCGGGCAGAATTTCAATC -3'

Posted On

2016-04-27