Incidental Mutation 'R0020:Cnga4'
| ID |
19034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnga4
|
| Ensembl Gene |
ENSMUSG00000030897 |
| Gene Name |
cyclic nucleotide gated channel alpha 4 |
| Synonyms |
|
| MMRRC Submission |
038315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R0020 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
105053775-105057949 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 105054884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 53
(R53L)
|
| 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: R156L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033187
Gene: ENSMUSG00000030897
AA Change: R156L
| 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: R53L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211131
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211520
|
| Meta Mutation Damage Score |
0.7538 |
| Coding Region Coverage |
- 1x: 82.6%
- 3x: 76.6%
- 10x: 60.3%
- 20x: 42.3%
|
| Validation Efficiency |
92% (100/109) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg2 |
C |
T |
5: 137,652,064 (GRCm39) |
V432M |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,755,617 (GRCm39) |
I74K |
probably benign |
Het |
| Atf2 |
T |
C |
2: 73,676,628 (GRCm39) |
D122G |
possibly damaging |
Het |
| Brd10 |
A |
T |
19: 29,693,597 (GRCm39) |
D2032E |
probably damaging |
Het |
| Ccser1 |
C |
A |
6: 61,290,788 (GRCm39) |
T490K |
possibly damaging |
Het |
| Cip2a |
A |
T |
16: 48,821,975 (GRCm39) |
H201L |
probably damaging |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,739,272 (GRCm39) |
I319F |
probably damaging |
Het |
| Cst11 |
T |
A |
2: 148,613,253 (GRCm39) |
Y24F |
probably damaging |
Het |
| Cstb |
T |
A |
10: 78,263,170 (GRCm39) |
V65E |
probably benign |
Het |
| Cyp2j11 |
G |
A |
4: 96,195,641 (GRCm39) |
H352Y |
probably benign |
Het |
| Ezr |
G |
T |
17: 7,010,126 (GRCm39) |
Q308K |
probably damaging |
Het |
| F3 |
A |
T |
3: 121,525,265 (GRCm39) |
N169Y |
probably damaging |
Het |
| Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,169,514 (GRCm39) |
G131R |
probably benign |
Het |
| Fhl5 |
A |
T |
4: 25,200,054 (GRCm39) |
V260E |
probably benign |
Het |
| Kcna10 |
A |
T |
3: 107,102,736 (GRCm39) |
I456F |
probably damaging |
Het |
| Loxl2 |
T |
C |
14: 69,898,242 (GRCm39) |
V232A |
probably damaging |
Het |
| Megf10 |
G |
T |
18: 57,420,965 (GRCm39) |
V868F |
possibly damaging |
Het |
| Megf9 |
A |
G |
4: 70,406,386 (GRCm39) |
V260A |
probably benign |
Het |
| Nampt |
A |
T |
12: 32,891,012 (GRCm39) |
S278C |
probably damaging |
Het |
| Nap1l1 |
A |
C |
10: 111,326,884 (GRCm39) |
E148D |
probably benign |
Het |
| Pamr1 |
C |
T |
2: 102,472,423 (GRCm39) |
T574I |
probably benign |
Het |
| Pde4d |
T |
A |
13: 110,091,104 (GRCm39) |
C35S |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,825,765 (GRCm39) |
|
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,651,382 (GRCm39) |
E910G |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,420,268 (GRCm39) |
Y3002C |
probably damaging |
Het |
| Ppp6r2 |
T |
A |
15: 89,143,342 (GRCm39) |
M163K |
probably damaging |
Het |
| Prdm4 |
T |
C |
10: 85,743,487 (GRCm39) |
N256S |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,021,350 (GRCm39) |
|
probably benign |
Het |
| Scube2 |
A |
G |
7: 109,430,095 (GRCm39) |
|
probably benign |
Het |
| Slco1a8 |
A |
T |
6: 141,918,076 (GRCm39) |
V600E |
possibly damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,896,112 (GRCm39) |
I779F |
probably damaging |
Het |
| Tamalin |
T |
C |
15: 101,128,433 (GRCm39) |
V157A |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,146,589 (GRCm39) |
T447A |
probably damaging |
Het |
| Zfp282 |
T |
G |
6: 47,856,943 (GRCm39) |
W59G |
probably damaging |
Het |
| Zfp629 |
C |
G |
7: 127,210,341 (GRCm39) |
E489D |
probably benign |
Het |
| Zfp746 |
C |
A |
6: 48,041,641 (GRCm39) |
A362S |
probably benign |
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 |
|
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 |
2013-03-25 |
Incidental Mutation