Incidental Mutation 'R2969:Cnga3'
| ID |
256049 |
| Institutional Source |
Beutler Lab
|
| 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)
|
| Stock # |
R2969 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
37257317-37302465 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37300159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 331
(Y331C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027288]
[ENSMUST00000194195]
[ENSMUST00000195272]
|
| AlphaFold |
Q9JJZ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027288
AA Change: Y293C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027288
Gene: ENSMUSG00000026114
AA Change: Y293C
| 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 damaging
Transcript: ENSMUST00000194195
AA Change: Y293C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142075
Gene: ENSMUSG00000026114
AA Change: Y293C
| 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 damaging
Transcript: ENSMUST00000195272
AA Change: Y331C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142175
Gene: ENSMUSG00000026114
AA Change: Y331C
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
A |
G |
10: 69,830,225 (GRCm39) |
T137A |
probably damaging |
Het |
| Antxr2 |
A |
T |
5: 98,178,275 (GRCm39) |
L45* |
probably null |
Het |
| Armc1 |
T |
C |
3: 19,189,024 (GRCm39) |
S214G |
probably benign |
Het |
| Arsj |
T |
C |
3: 126,233,021 (GRCm39) |
I589T |
probably benign |
Het |
| C8a |
A |
G |
4: 104,710,974 (GRCm39) |
S230P |
probably damaging |
Het |
| Gm21976 |
A |
G |
13: 98,423,790 (GRCm39) |
Y33C |
unknown |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gtf2i |
A |
G |
5: 134,280,746 (GRCm39) |
V556A |
probably damaging |
Het |
| Ighv8-12 |
C |
T |
12: 115,611,570 (GRCm39) |
R118Q |
probably benign |
Het |
| Ing4 |
A |
G |
6: 125,024,288 (GRCm39) |
K131E |
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,818,317 (GRCm39) |
R139S |
probably damaging |
Het |
| Nap1l2 |
A |
T |
X: 102,229,254 (GRCm39) |
D221E |
probably benign |
Het |
| Nepn |
A |
T |
10: 52,276,983 (GRCm39) |
R179* |
probably null |
Het |
| Nrxn3 |
G |
A |
12: 89,321,241 (GRCm39) |
C383Y |
probably damaging |
Het |
| Pfpl |
G |
T |
19: 12,406,907 (GRCm39) |
R386L |
probably benign |
Het |
| Rere |
A |
G |
4: 150,654,673 (GRCm39) |
K402E |
unknown |
Het |
| Serpina3n |
C |
T |
12: 104,375,333 (GRCm39) |
T135M |
probably benign |
Het |
| Slc43a1 |
C |
T |
2: 84,687,679 (GRCm39) |
T395I |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Vipas39 |
T |
C |
12: 87,289,345 (GRCm39) |
N373S |
probably benign |
Het |
| Vmn1r128 |
T |
A |
7: 21,084,046 (GRCm39) |
V250D |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAACCGCCTCCTGAAGTTC -3'
(R):5'- GCGTTCATGTTGGAAATCATGG -3'
Sequencing Primer
(F):5'- GAATTCTTTGACCGCACAGAG -3'
(R):5'- AATCATGGAGCCTACGTTGC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation