Incidental Mutation 'IGL03332:Cnga2'
| ID |
416892 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cnga2
|
| Ensembl Gene |
ENSMUSG00000005864 |
| Gene Name |
cyclic nucleotide gated channel alpha 2 |
| Synonyms |
Cnca, Cncg4, OCNC1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03332
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
71035455-71053824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71049800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 155
(Y155C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006020]
|
| AlphaFold |
Q62398 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006020
AA Change: Y155C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006020
Gene: ENSMUSG00000005864
AA Change: Y155C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
129 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
142 |
385 |
2.8e-30 |
PFAM |
|
cNMP
|
456 |
580 |
4.54e-23 |
SMART |
|
PDB:3SWY|C
|
599 |
642 |
2e-9 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145642
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a transmembrane protein that is a subunit of the nucleotide-gated olfactory ion channel. Knock out of this gene affects development of the olfactory epithelium and olfactory bulb. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality within 2 days of birth, growth retardation, and abnormal olfactory neuron response to forskolin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff1 |
C |
A |
5: 103,988,971 (GRCm39) |
S846* |
probably null |
Het |
| Cngb1 |
A |
G |
8: 96,025,474 (GRCm39) |
|
probably benign |
Het |
| Ece1 |
T |
C |
4: 137,673,666 (GRCm39) |
Y405H |
probably damaging |
Het |
| Entpd5 |
T |
C |
12: 84,429,002 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
T |
C |
6: 146,045,647 (GRCm39) |
E2573G |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,419,277 (GRCm39) |
Y481* |
probably null |
Het |
| Mia2 |
T |
A |
12: 59,155,184 (GRCm39) |
I300N |
probably damaging |
Het |
| Mtcl1 |
G |
A |
17: 66,645,014 (GRCm39) |
P1478S |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,801,418 (GRCm39) |
E1192G |
possibly damaging |
Het |
| Nol6 |
C |
A |
4: 41,120,735 (GRCm39) |
D405Y |
probably damaging |
Het |
| Rpl4 |
T |
C |
9: 64,083,370 (GRCm39) |
|
probably benign |
Het |
| Rreb1 |
G |
T |
13: 38,114,892 (GRCm39) |
E750D |
probably benign |
Het |
| Slc1a2 |
A |
G |
2: 102,578,879 (GRCm39) |
M265V |
possibly damaging |
Het |
| Tnik |
C |
T |
3: 28,720,304 (GRCm39) |
T1254I |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,542,790 (GRCm39) |
G348D |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,384,486 (GRCm39) |
T527A |
possibly damaging |
Het |
| Zbtb21 |
T |
C |
16: 97,753,533 (GRCm39) |
E250G |
possibly damaging |
Het |
| Zbtb8b |
G |
A |
4: 129,322,361 (GRCm39) |
P367S |
probably damaging |
Het |
|
| Other mutations in Cnga2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02512:Cnga2
|
APN |
X |
71,052,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02633:Cnga2
|
APN |
X |
71,048,655 (GRCm39) |
splice site |
probably benign |
|
|
IGL03059:Cnga2
|
APN |
X |
71,051,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03215:Cnga2
|
APN |
X |
71,052,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2128:Cnga2
|
UTSW |
X |
71,051,394 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4486:Cnga2
|
UTSW |
X |
71,049,733 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4487:Cnga2
|
UTSW |
X |
71,049,733 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4489:Cnga2
|
UTSW |
X |
71,049,733 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Posted On |
2016-08-02 |
Incidental Mutation