Incidental Mutation 'R0980:Cnga4'
| ID |
96995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnga4
|
| Ensembl Gene |
ENSMUSG00000030897 |
| Gene Name |
cyclic nucleotide gated channel alpha 4 |
| Synonyms |
|
| MMRRC Submission |
039106-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R0980 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
105053775-105057949 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 105057213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 439
(P439T)
|
| 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: P542T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033187
Gene: ENSMUSG00000030897
AA Change: P542T
| 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: P439T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211108
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 89.2%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankdd1a |
T |
C |
9: 65,424,253 (GRCm39) |
H20R |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,467,866 (GRCm39) |
E1778G |
possibly damaging |
Het |
| Arhgef18 |
C |
T |
8: 3,439,095 (GRCm39) |
|
probably benign |
Het |
| Blm |
A |
T |
7: 80,149,706 (GRCm39) |
|
probably null |
Het |
| Ccr6 |
A |
G |
17: 8,474,846 (GRCm39) |
E17G |
probably benign |
Het |
| Cep126 |
T |
C |
9: 8,100,720 (GRCm39) |
T605A |
probably damaging |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Cyp2a5 |
A |
G |
7: 26,538,431 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
A |
G |
2: 104,079,690 (GRCm39) |
V1131A |
probably damaging |
Het |
| Elp3 |
T |
C |
14: 65,815,402 (GRCm39) |
T197A |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,806,378 (GRCm39) |
D1200G |
probably damaging |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Gprin1 |
T |
C |
13: 54,888,214 (GRCm39) |
D20G |
possibly damaging |
Het |
| Hltf |
T |
C |
3: 20,145,665 (GRCm39) |
S432P |
probably benign |
Het |
| Immt |
T |
C |
6: 71,851,310 (GRCm39) |
V54A |
probably benign |
Het |
| Jhy |
T |
G |
9: 40,856,133 (GRCm39) |
Y118S |
possibly damaging |
Het |
| Kif23 |
C |
A |
9: 61,844,046 (GRCm39) |
K154N |
possibly damaging |
Het |
| Krt79 |
T |
C |
15: 101,846,442 (GRCm39) |
T169A |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,740,827 (GRCm39) |
E443G |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,023,587 (GRCm39) |
C786S |
probably damaging |
Het |
| Mme |
A |
T |
3: 63,247,550 (GRCm39) |
E278D |
probably benign |
Het |
| Nt5c2 |
G |
T |
19: 46,887,317 (GRCm39) |
Q162K |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,888,887 (GRCm39) |
V2109A |
possibly damaging |
Het |
| Or5p64 |
GGTAG |
GG |
7: 107,855,229 (GRCm39) |
|
probably benign |
Het |
| Or8k28 |
T |
C |
2: 86,285,704 (GRCm39) |
T304A |
probably benign |
Het |
| Or8k38 |
T |
A |
2: 86,488,209 (GRCm39) |
I198L |
probably benign |
Het |
| Osmr |
G |
T |
15: 6,881,921 (GRCm39) |
N74K |
probably benign |
Het |
| Pes1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
11: 3,927,636 (GRCm39) |
|
probably benign |
Het |
| Pgd |
A |
T |
4: 149,238,768 (GRCm39) |
|
probably null |
Het |
| Pld1 |
T |
A |
3: 28,178,724 (GRCm39) |
S873T |
probably damaging |
Het |
| Polk |
A |
T |
13: 96,620,272 (GRCm39) |
C664S |
probably benign |
Het |
| Proca1 |
A |
C |
11: 78,095,773 (GRCm39) |
H135P |
probably benign |
Het |
| Ptgs2 |
A |
C |
1: 149,980,061 (GRCm39) |
D333A |
probably damaging |
Het |
| Rexo5 |
T |
C |
7: 119,423,035 (GRCm39) |
V289A |
probably damaging |
Het |
| Rnf125 |
T |
A |
18: 21,112,117 (GRCm39) |
C49* |
probably null |
Het |
| Rprd2 |
C |
A |
3: 95,673,216 (GRCm39) |
R729L |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,994 (GRCm39) |
S407G |
possibly damaging |
Het |
| Slc35a4 |
C |
A |
18: 36,815,834 (GRCm39) |
N221K |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,220,761 (GRCm39) |
D563G |
probably benign |
Het |
| Stk39 |
G |
T |
2: 68,222,515 (GRCm39) |
T183K |
probably damaging |
Het |
| Tc2n |
T |
A |
12: 101,644,835 (GRCm39) |
K264* |
probably null |
Het |
| Trim23 |
C |
T |
13: 104,324,635 (GRCm39) |
R238W |
probably damaging |
Het |
| Trim66 |
C |
A |
7: 109,054,877 (GRCm39) |
V1240L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,584,389 (GRCm39) |
T13913A |
probably damaging |
Het |
| Ubap1 |
T |
G |
4: 41,379,832 (GRCm39) |
C349G |
probably damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,759 (GRCm39) |
I54F |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAACATGTCTGGAAACCGACGAAC -3'
(R):5'- TGCAGGCAGACTTTCCTACCACTC -3'
Sequencing Primer
(F):5'- TGCTGAGTGAGTACCCACAG -3'
(R):5'- ACCACTCTGGAATTACTTGAGCTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation