Incidental Mutation 'IGL02533:Cnga4'
| ID |
297386 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cnga4
|
| Ensembl Gene |
ENSMUSG00000030897 |
| Gene Name |
cyclic nucleotide gated channel alpha 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL02533
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
105053775-105057949 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105057168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 424
(Y424H)
|
| 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: Y527H
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000033187
Gene: ENSMUSG00000030897
AA Change: Y527H
| 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: Y424H
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211108
|
| Coding Region Coverage |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1m2 |
T |
C |
9: 21,207,797 (GRCm39) |
Y396C |
probably damaging |
Het |
| Bach2 |
T |
C |
4: 32,562,451 (GRCm39) |
V306A |
probably benign |
Het |
| Cops9 |
T |
C |
1: 92,567,438 (GRCm39) |
E79G |
possibly damaging |
Het |
| Crebbp |
T |
C |
16: 3,925,296 (GRCm39) |
N769D |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dennd4b |
A |
T |
3: 90,179,617 (GRCm39) |
H636L |
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,458,859 (GRCm39) |
T632A |
probably benign |
Het |
| Gabbr1 |
C |
T |
17: 37,383,039 (GRCm39) |
R857C |
probably damaging |
Het |
| Gbp10 |
A |
T |
5: 105,367,901 (GRCm39) |
V424D |
probably damaging |
Het |
| Gnptg |
T |
C |
17: 25,454,429 (GRCm39) |
E146G |
possibly damaging |
Het |
| Has2 |
A |
T |
15: 56,545,091 (GRCm39) |
H170Q |
probably benign |
Het |
| Il22ra1 |
G |
A |
4: 135,472,034 (GRCm39) |
G190D |
possibly damaging |
Het |
| Lhcgr |
T |
C |
17: 89,049,838 (GRCm39) |
T563A |
probably benign |
Het |
| Mgat4b |
T |
A |
11: 50,124,379 (GRCm39) |
F413Y |
probably damaging |
Het |
| Mms22l |
T |
A |
4: 24,581,099 (GRCm39) |
|
probably benign |
Het |
| Muc19 |
C |
T |
15: 91,782,241 (GRCm39) |
|
noncoding transcript |
Het |
| Ncoa7 |
A |
T |
10: 30,566,895 (GRCm39) |
S545R |
possibly damaging |
Het |
| Ncoa7 |
A |
C |
10: 30,598,781 (GRCm39) |
D47E |
probably damaging |
Het |
| Nme1 |
A |
G |
11: 93,850,257 (GRCm39) |
Y142H |
possibly damaging |
Het |
| Or10j3b |
A |
T |
1: 173,043,628 (GRCm39) |
M137L |
probably damaging |
Het |
| Or5h25 |
T |
A |
16: 58,930,047 (GRCm39) |
T309S |
probably benign |
Het |
| Or8i2 |
T |
A |
2: 86,852,697 (GRCm39) |
S64C |
probably damaging |
Het |
| Per2 |
A |
G |
1: 91,358,724 (GRCm39) |
I587T |
possibly damaging |
Het |
| Pias3 |
A |
G |
3: 96,606,932 (GRCm39) |
D65G |
possibly damaging |
Het |
| Pramel20 |
A |
G |
4: 143,297,572 (GRCm39) |
|
probably benign |
Het |
| Prkacb |
T |
C |
3: 146,438,451 (GRCm39) |
I304M |
possibly damaging |
Het |
| Ripor2 |
G |
T |
13: 24,885,378 (GRCm39) |
E538* |
probably null |
Het |
| Sart1 |
G |
A |
19: 5,433,749 (GRCm39) |
R363* |
probably null |
Het |
| Serpinb3a |
T |
G |
1: 106,974,892 (GRCm39) |
I214L |
probably benign |
Het |
| Spon2 |
C |
A |
5: 33,371,942 (GRCm39) |
C288F |
probably damaging |
Het |
| Tmprss11a |
G |
A |
5: 86,562,386 (GRCm39) |
R320C |
probably damaging |
Het |
| Trpm5 |
T |
A |
7: 142,643,282 (GRCm39) |
I22F |
probably benign |
Het |
| Ube3a |
T |
C |
7: 58,954,580 (GRCm39) |
F818L |
probably damaging |
Het |
| Vmn1r120 |
T |
G |
7: 20,787,063 (GRCm39) |
Q216P |
probably damaging |
Het |
| Vmn2r4 |
A |
C |
3: 64,305,840 (GRCm39) |
Y527* |
probably null |
Het |
| Zfp618 |
A |
T |
4: 63,007,642 (GRCm39) |
Y125F |
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 |
|
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 |
|
R3415:Cnga4
|
UTSW |
7 |
105,056,325 (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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation