Incidental Mutation 'R4559:Cnga4'
| ID |
342989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnga4
|
| Ensembl Gene |
ENSMUSG00000030897 |
| Gene Name |
cyclic nucleotide gated channel alpha 4 |
| Synonyms |
|
| MMRRC Submission |
041785-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R4559 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
105053775-105057949 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105054892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 159
(T159A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033187]
[ENSMUST00000210344]
|
| AlphaFold |
Q3UW12 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033187
AA Change: T159A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033187
Gene: ENSMUSG00000030897
AA Change: T159A
| 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 benign
Transcript: ENSMUST00000210344
AA Change: T56A
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211131
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211520
|
| Meta Mutation Damage Score |
0.1310 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (56/56) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017G19Rik |
A |
G |
3: 40,567,240 (GRCm39) |
|
noncoding transcript |
Het |
| 1700066M21Rik |
T |
C |
1: 57,422,083 (GRCm39) |
F153S |
possibly damaging |
Het |
| Acss1 |
A |
G |
2: 150,480,405 (GRCm39) |
V222A |
probably benign |
Het |
| Atad2b |
A |
G |
12: 4,993,223 (GRCm39) |
I247M |
probably benign |
Het |
| Atxn10 |
A |
G |
15: 85,322,321 (GRCm39) |
I398V |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 68,004,584 (GRCm39) |
C2312S |
probably damaging |
Het |
| Cidea |
C |
T |
18: 67,493,298 (GRCm39) |
Q106* |
probably null |
Het |
| Cyp2j12 |
G |
T |
4: 96,001,194 (GRCm39) |
S304R |
probably damaging |
Het |
| Dennd2b |
A |
G |
7: 109,124,785 (GRCm39) |
F665L |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,603,978 (GRCm39) |
V815E |
probably damaging |
Het |
| Entrep1 |
G |
A |
19: 24,007,913 (GRCm39) |
S130L |
probably damaging |
Het |
| Farp1 |
T |
C |
14: 121,510,213 (GRCm39) |
M737T |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,193,634 (GRCm39) |
D1395V |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,209,146 (GRCm39) |
M1076I |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,314,593 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,929,148 (GRCm39) |
R3851G |
probably damaging |
Het |
| Frem2 |
C |
T |
3: 53,561,742 (GRCm39) |
V922I |
probably benign |
Het |
| Gm10719 |
A |
T |
9: 3,018,945 (GRCm39) |
T200S |
probably benign |
Het |
| Grin3a |
T |
C |
4: 49,844,555 (GRCm39) |
D176G |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,089,928 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
C |
A |
17: 25,309,741 (GRCm39) |
H1090Q |
probably damaging |
Het |
| Il20ra |
A |
G |
10: 19,625,032 (GRCm39) |
T104A |
probably damaging |
Het |
| Il22ra2 |
A |
G |
10: 19,502,460 (GRCm39) |
D93G |
possibly damaging |
Het |
| Ing1 |
A |
G |
8: 11,612,090 (GRCm39) |
K176R |
probably benign |
Het |
| Jph1 |
A |
T |
1: 17,074,735 (GRCm39) |
C428S |
probably benign |
Het |
| Kif13b |
G |
T |
14: 65,043,581 (GRCm39) |
G1794W |
probably damaging |
Het |
| Map10 |
A |
G |
8: 126,398,553 (GRCm39) |
T649A |
probably benign |
Het |
| Med12l |
T |
C |
3: 58,914,523 (GRCm39) |
|
probably null |
Het |
| Nat8f1 |
A |
G |
6: 85,887,567 (GRCm39) |
I131T |
probably benign |
Het |
| Oas1d |
C |
A |
5: 121,054,958 (GRCm39) |
Q177K |
probably benign |
Het |
| Or4a74 |
C |
A |
2: 89,440,043 (GRCm39) |
M134I |
probably damaging |
Het |
| Or51q1 |
G |
A |
7: 103,628,767 (GRCm39) |
D123N |
probably damaging |
Het |
| P2ry2 |
A |
G |
7: 100,647,363 (GRCm39) |
V314A |
possibly damaging |
Het |
| Pabir2 |
G |
A |
X: 52,349,554 (GRCm39) |
|
probably benign |
Het |
| Pfkl |
G |
T |
10: 77,824,717 (GRCm39) |
R691S |
probably benign |
Het |
| Plb1 |
T |
A |
5: 32,490,175 (GRCm39) |
I1005N |
probably damaging |
Het |
| Prkacb |
A |
G |
3: 146,451,147 (GRCm39) |
|
probably benign |
Het |
| Ptprm |
A |
T |
17: 66,990,403 (GRCm39) |
Y1412N |
possibly damaging |
Het |
| Rab22a |
A |
G |
2: 173,503,226 (GRCm39) |
D13G |
probably damaging |
Het |
| Rab29 |
G |
A |
1: 131,800,305 (GRCm39) |
W201* |
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,648,259 (GRCm39) |
E135G |
probably damaging |
Het |
| Rassf10 |
A |
G |
7: 112,554,338 (GRCm39) |
E313G |
probably benign |
Het |
| Sf1 |
GGCAGCAGCAGCAGCAGCAGC |
GGCAGCAGCAGCAGCAGC |
19: 6,424,845 (GRCm39) |
|
probably benign |
Het |
| Sipa1l3 |
A |
T |
7: 29,031,678 (GRCm39) |
L468Q |
probably damaging |
Het |
| Slc17a1 |
A |
T |
13: 24,062,695 (GRCm39) |
K254* |
probably null |
Het |
| Slc6a12 |
G |
A |
6: 121,340,820 (GRCm39) |
|
probably null |
Het |
| Slfn8 |
A |
G |
11: 82,895,570 (GRCm39) |
L412P |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,946,583 (GRCm39) |
S469P |
probably damaging |
Het |
| Tgoln1 |
T |
C |
6: 72,592,664 (GRCm39) |
E272G |
probably damaging |
Het |
| Tlr12 |
C |
A |
4: 128,509,563 (GRCm39) |
G896W |
probably damaging |
Het |
| Tnfrsf1a |
A |
G |
6: 125,337,729 (GRCm39) |
I229V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,749,890 (GRCm39) |
H3720Y |
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 |
|
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 |
|
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'- TGGTAGACAAAAGCATGATCGC -3'
(R):5'- CACAGTGGTCAGGATCAGAGTG -3'
Sequencing Primer
(F):5'- ATGATCGCCAGTCGCTATGTACG -3'
(R):5'- AGCTGTAGAGATACTGGCGCC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation