Incidental Mutation 'R3415:Cnga4'
ID |
266767 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnga4
|
Ensembl Gene |
ENSMUSG00000030897 |
Gene Name |
cyclic nucleotide gated channel alpha 4 |
Synonyms |
|
MMRRC Submission |
040633-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R3415 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
105053775-105057949 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105056325 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 309
(Y309C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147387
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033187]
[ENSMUST00000210344]
|
AlphaFold |
Q3UW12 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033187
AA Change: Y412C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033187 Gene: ENSMUSG00000030897 AA Change: Y412C
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans
|
34 |
276 |
1.1e-28 |
PFAM |
cNMP
|
348 |
472 |
1.54e-25 |
SMART |
low complexity region
|
500 |
508 |
N/A |
INTRINSIC |
low complexity region
|
514 |
523 |
N/A |
INTRINSIC |
low complexity region
|
540 |
557 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210344
AA Change: Y309C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CNGA4 is a modulatory subunit of vertebrate cyclic nucleotide-gated membrane channels that transduce odorant signals (Munger et al., 2001 [PubMed 11739959]).[supplied by OMIM, Mar 2008] PHENOTYPE: Inactivation of this gene results in odor adaptation defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc39 |
C |
G |
3: 33,868,646 (GRCm39) |
L813F |
probably benign |
Het |
Cdh13 |
A |
T |
8: 119,401,946 (GRCm39) |
D116V |
probably benign |
Het |
Cep170 |
G |
T |
1: 176,583,610 (GRCm39) |
P923Q |
probably damaging |
Het |
Chga |
A |
G |
12: 102,529,043 (GRCm39) |
E340G |
probably benign |
Het |
Cmip |
T |
A |
8: 118,076,116 (GRCm39) |
|
probably null |
Het |
Crocc |
G |
A |
4: 140,773,758 (GRCm39) |
T103I |
possibly damaging |
Het |
Dph6 |
C |
T |
2: 114,348,768 (GRCm39) |
V267I |
probably benign |
Het |
Ero1a |
T |
C |
14: 45,525,323 (GRCm39) |
T401A |
possibly damaging |
Het |
Exoc6b |
C |
G |
6: 84,867,547 (GRCm39) |
L288F |
possibly damaging |
Het |
Ifi203 |
G |
A |
1: 173,756,326 (GRCm39) |
R486* |
probably null |
Het |
Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
Klhl42 |
G |
A |
6: 147,009,378 (GRCm39) |
V406M |
probably damaging |
Het |
Lims2 |
A |
T |
18: 32,077,208 (GRCm39) |
Y58F |
probably damaging |
Het |
Lrp12 |
A |
G |
15: 39,741,678 (GRCm39) |
F365L |
probably damaging |
Het |
Lrrc37 |
A |
T |
11: 103,505,435 (GRCm39) |
S2178T |
possibly damaging |
Het |
Mark4 |
T |
C |
7: 19,185,650 (GRCm39) |
D28G |
probably benign |
Het |
Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
Mmp1a |
A |
T |
9: 7,464,869 (GRCm39) |
K34N |
possibly damaging |
Het |
Or4k2 |
T |
A |
14: 50,424,069 (GRCm39) |
T202S |
possibly damaging |
Het |
P2rx5 |
G |
T |
11: 73,051,486 (GRCm39) |
V22L |
possibly damaging |
Het |
Pnma8a |
A |
G |
7: 16,694,879 (GRCm39) |
R245G |
possibly damaging |
Het |
Prpsap1 |
T |
C |
11: 116,369,410 (GRCm39) |
S179G |
probably benign |
Het |
Specc1 |
A |
G |
11: 62,009,245 (GRCm39) |
T334A |
probably benign |
Het |
Tas2r124 |
A |
T |
6: 132,732,601 (GRCm39) |
R303S |
probably benign |
Het |
Tm7sf2 |
A |
G |
19: 6,113,629 (GRCm39) |
Y301H |
probably damaging |
Het |
Unc13c |
G |
T |
9: 73,839,868 (GRCm39) |
H328N |
probably benign |
Het |
Zfp641 |
T |
C |
15: 98,188,421 (GRCm39) |
D153G |
probably benign |
Het |
Zp3 |
A |
G |
5: 136,014,514 (GRCm39) |
T278A |
probably benign |
Het |
Zscan2 |
T |
A |
7: 80,525,150 (GRCm39) |
S290R |
probably damaging |
Het |
|
Other mutations in Cnga4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01413:Cnga4
|
APN |
7 |
105,054,169 (GRCm39) |
missense |
probably benign |
|
IGL01418:Cnga4
|
APN |
7 |
105,054,169 (GRCm39) |
missense |
probably benign |
|
IGL02450:Cnga4
|
APN |
7 |
105,054,955 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02533:Cnga4
|
APN |
7 |
105,057,168 (GRCm39) |
missense |
probably damaging |
0.97 |
BB001:Cnga4
|
UTSW |
7 |
105,057,028 (GRCm39) |
missense |
probably benign |
0.00 |
BB011:Cnga4
|
UTSW |
7 |
105,057,028 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03052:Cnga4
|
UTSW |
7 |
105,053,932 (GRCm39) |
missense |
probably benign |
0.21 |
R0020:Cnga4
|
UTSW |
7 |
105,054,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R0135:Cnga4
|
UTSW |
7 |
105,056,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R0281:Cnga4
|
UTSW |
7 |
105,056,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R0506:Cnga4
|
UTSW |
7 |
105,056,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R0599:Cnga4
|
UTSW |
7 |
105,055,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R0646:Cnga4
|
UTSW |
7 |
105,054,182 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0980:Cnga4
|
UTSW |
7 |
105,057,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R1727:Cnga4
|
UTSW |
7 |
105,054,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R3768:Cnga4
|
UTSW |
7 |
105,056,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R4559:Cnga4
|
UTSW |
7 |
105,054,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R4852:Cnga4
|
UTSW |
7 |
105,054,937 (GRCm39) |
missense |
probably benign |
0.01 |
R5081:Cnga4
|
UTSW |
7 |
105,056,232 (GRCm39) |
missense |
probably benign |
0.20 |
R6232:Cnga4
|
UTSW |
7 |
105,056,906 (GRCm39) |
nonsense |
probably null |
|
R6234:Cnga4
|
UTSW |
7 |
105,056,906 (GRCm39) |
nonsense |
probably null |
|
R6235:Cnga4
|
UTSW |
7 |
105,056,906 (GRCm39) |
nonsense |
probably null |
|
R6824:Cnga4
|
UTSW |
7 |
105,056,036 (GRCm39) |
missense |
probably benign |
|
R6866:Cnga4
|
UTSW |
7 |
105,056,952 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6997:Cnga4
|
UTSW |
7 |
105,056,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R7019:Cnga4
|
UTSW |
7 |
105,055,036 (GRCm39) |
missense |
probably benign |
0.00 |
R7273:Cnga4
|
UTSW |
7 |
105,056,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R7509:Cnga4
|
UTSW |
7 |
105,056,097 (GRCm39) |
missense |
probably benign |
0.32 |
R7522:Cnga4
|
UTSW |
7 |
105,055,195 (GRCm39) |
missense |
probably damaging |
0.99 |
R7545:Cnga4
|
UTSW |
7 |
105,056,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R7873:Cnga4
|
UTSW |
7 |
105,056,249 (GRCm39) |
missense |
probably damaging |
0.99 |
R7924:Cnga4
|
UTSW |
7 |
105,057,028 (GRCm39) |
missense |
probably benign |
0.00 |
R7969:Cnga4
|
UTSW |
7 |
105,055,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R8024:Cnga4
|
UTSW |
7 |
105,056,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R8284:Cnga4
|
UTSW |
7 |
105,057,239 (GRCm39) |
missense |
probably benign |
0.17 |
R8743:Cnga4
|
UTSW |
7 |
105,057,220 (GRCm39) |
missense |
probably benign |
|
R9553:Cnga4
|
UTSW |
7 |
105,054,977 (GRCm39) |
missense |
probably damaging |
1.00 |
X0025:Cnga4
|
UTSW |
7 |
105,054,427 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGCCGAGTACAGATCTTCC -3'
(R):5'- ACTGCTTCTTCCCAGGCAAC -3'
Sequencing Primer
(F):5'- GATCTTCCAGAACTGTGAAGCCAG -3'
(R):5'- GCTTCTTCCCAGGCAACAGATAAC -3'
|
Posted On |
2015-02-18 |