Incidental Mutation 'IGL02354:Cnga1'
ID |
289620 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cnga1
|
Ensembl Gene |
ENSMUSG00000067220 |
Gene Name |
cyclic nucleotide gated channel alpha 1 |
Synonyms |
Cncg |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.310)
|
Stock # |
IGL02354
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
72761039-72800095 bp(-) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
T to C
at 72774061 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143881
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087213]
[ENSMUST00000126799]
[ENSMUST00000135701]
[ENSMUST00000169997]
[ENSMUST00000201463]
|
AlphaFold |
P29974 |
Predicted Effect |
probably null
Transcript: ENSMUST00000087213
|
SMART Domains |
Protein: ENSMUSP00000084464 Gene: ENSMUSG00000067220
Domain | Start | End | E-Value | Type |
coiled coil region
|
111 |
150 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
156 |
400 |
3e-33 |
PFAM |
cNMP
|
471 |
595 |
3.31e-25 |
SMART |
PDB:3SWF|C
|
615 |
684 |
6e-31 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000126799
AA Change: *92W
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135701
|
Predicted Effect |
probably null
Transcript: ENSMUST00000169997
|
SMART Domains |
Protein: ENSMUSP00000132329 Gene: ENSMUSG00000067220
Domain | Start | End | E-Value | Type |
coiled coil region
|
111 |
150 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
194 |
388 |
4.7e-19 |
PFAM |
cNMP
|
471 |
595 |
3.31e-25 |
SMART |
PDB:3SWF|C
|
615 |
684 |
6e-31 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000201463
|
SMART Domains |
Protein: ENSMUSP00000143881 Gene: ENSMUSG00000067220
Domain | Start | End | E-Value | Type |
coiled coil region
|
111 |
150 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
156 |
400 |
3e-33 |
PFAM |
cNMP
|
471 |
595 |
3.31e-25 |
SMART |
PDB:3SWF|C
|
615 |
684 |
6e-31 |
PDB |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aqp1 |
A |
C |
6: 55,322,498 (GRCm39) |
L164F |
possibly damaging |
Het |
Bfsp1 |
T |
C |
2: 143,673,907 (GRCm39) |
E261G |
probably damaging |
Het |
Brinp2 |
A |
G |
1: 158,074,748 (GRCm39) |
C458R |
probably damaging |
Het |
Cacng3 |
T |
G |
7: 122,271,169 (GRCm39) |
M58R |
possibly damaging |
Het |
Cfap43 |
A |
T |
19: 47,885,852 (GRCm39) |
C254* |
probably null |
Het |
Dis3 |
A |
T |
14: 99,317,148 (GRCm39) |
Y765* |
probably null |
Het |
Dpep1 |
T |
A |
8: 123,926,957 (GRCm39) |
S260R |
probably benign |
Het |
Elmod1 |
A |
G |
9: 53,838,842 (GRCm39) |
L106P |
probably damaging |
Het |
Fut10 |
A |
G |
8: 31,691,398 (GRCm39) |
Y81C |
probably damaging |
Het |
Fzd10 |
T |
A |
5: 128,678,932 (GRCm39) |
D217E |
possibly damaging |
Het |
Gap43 |
T |
C |
16: 42,160,871 (GRCm39) |
|
probably benign |
Het |
Gigyf1 |
T |
C |
5: 137,517,989 (GRCm39) |
|
probably benign |
Het |
Gpc5 |
C |
T |
14: 115,370,699 (GRCm39) |
R175* |
probably null |
Het |
Gpi-ps |
T |
C |
8: 5,690,896 (GRCm39) |
|
noncoding transcript |
Het |
Gpr61 |
A |
G |
3: 108,057,534 (GRCm39) |
S376P |
probably damaging |
Het |
Kcna1 |
C |
A |
6: 126,619,869 (GRCm39) |
Q150H |
probably damaging |
Het |
Lama5 |
A |
T |
2: 179,835,677 (GRCm39) |
C1225* |
probably null |
Het |
Lrrc25 |
A |
T |
8: 71,070,477 (GRCm39) |
D86V |
probably benign |
Het |
Madd |
A |
T |
2: 90,992,543 (GRCm39) |
V1043E |
probably benign |
Het |
Mov10 |
A |
T |
3: 104,711,437 (GRCm39) |
|
probably benign |
Het |
Mzb1 |
T |
A |
18: 35,782,250 (GRCm39) |
H46L |
possibly damaging |
Het |
Nos3 |
A |
T |
5: 24,572,621 (GRCm39) |
I187F |
probably damaging |
Het |
Or4c1 |
T |
A |
2: 89,133,526 (GRCm39) |
M137L |
probably benign |
Het |
Or5p53 |
T |
A |
7: 107,533,484 (GRCm39) |
Y252* |
probably null |
Het |
Or6c69c |
A |
G |
10: 129,911,143 (GRCm39) |
Y288C |
probably damaging |
Het |
Pgap1 |
T |
C |
1: 54,551,975 (GRCm39) |
T486A |
probably benign |
Het |
Prdm9 |
C |
T |
17: 15,783,109 (GRCm39) |
V58M |
probably damaging |
Het |
Prkd2 |
A |
G |
7: 16,581,583 (GRCm39) |
Y146C |
probably damaging |
Het |
Psmd9 |
G |
T |
5: 123,386,379 (GRCm39) |
R175I |
probably damaging |
Het |
Pxdn |
A |
G |
12: 30,049,188 (GRCm39) |
D618G |
probably damaging |
Het |
Rgs6 |
A |
T |
12: 82,665,393 (GRCm39) |
|
probably benign |
Het |
Rrm2 |
G |
T |
12: 24,761,438 (GRCm39) |
|
probably benign |
Het |
Sall1 |
G |
T |
8: 89,759,677 (GRCm39) |
S142R |
probably benign |
Het |
Shank3 |
T |
C |
15: 89,388,536 (GRCm39) |
V376A |
probably damaging |
Het |
Slc5a10 |
A |
G |
11: 61,610,666 (GRCm39) |
|
probably null |
Het |
Slfn3 |
A |
T |
11: 83,104,068 (GRCm39) |
Q313L |
possibly damaging |
Het |
Snapc4 |
A |
G |
2: 26,257,319 (GRCm39) |
|
probably benign |
Het |
Sptbn1 |
A |
T |
11: 30,060,783 (GRCm39) |
F2062L |
probably damaging |
Het |
Tbc1d10a |
T |
C |
11: 4,165,047 (GRCm39) |
V500A |
probably benign |
Het |
Tcea1 |
T |
C |
1: 4,966,570 (GRCm39) |
|
probably benign |
Het |
Thsd7a |
T |
C |
6: 12,348,192 (GRCm39) |
|
probably benign |
Het |
Tm9sf4 |
C |
T |
2: 153,029,570 (GRCm39) |
T173M |
probably benign |
Het |
Tmtc2 |
T |
C |
10: 105,107,387 (GRCm39) |
T709A |
probably benign |
Het |
Zfp385b |
T |
C |
2: 77,280,647 (GRCm39) |
E97G |
probably damaging |
Het |
Zim1 |
A |
T |
7: 6,685,873 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cnga1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02332:Cnga1
|
APN |
5 |
72,761,829 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02345:Cnga1
|
APN |
5 |
72,762,615 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02361:Cnga1
|
APN |
5 |
72,774,061 (GRCm39) |
splice site |
probably null |
|
IGL03025:Cnga1
|
APN |
5 |
72,762,756 (GRCm39) |
missense |
probably benign |
|
IGL03257:Cnga1
|
APN |
5 |
72,768,205 (GRCm39) |
missense |
probably damaging |
1.00 |
tintoretto
|
UTSW |
5 |
72,766,843 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03046:Cnga1
|
UTSW |
5 |
72,761,681 (GRCm39) |
missense |
probably benign |
0.01 |
R0238:Cnga1
|
UTSW |
5 |
72,762,374 (GRCm39) |
missense |
probably damaging |
0.97 |
R0238:Cnga1
|
UTSW |
5 |
72,762,374 (GRCm39) |
missense |
probably damaging |
0.97 |
R0352:Cnga1
|
UTSW |
5 |
72,761,846 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1292:Cnga1
|
UTSW |
5 |
72,762,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R1386:Cnga1
|
UTSW |
5 |
72,769,526 (GRCm39) |
nonsense |
probably null |
|
R1903:Cnga1
|
UTSW |
5 |
72,774,068 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2096:Cnga1
|
UTSW |
5 |
72,776,404 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2097:Cnga1
|
UTSW |
5 |
72,776,404 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2101:Cnga1
|
UTSW |
5 |
72,776,404 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2276:Cnga1
|
UTSW |
5 |
72,776,404 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2279:Cnga1
|
UTSW |
5 |
72,776,404 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2507:Cnga1
|
UTSW |
5 |
72,776,404 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2508:Cnga1
|
UTSW |
5 |
72,776,404 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3005:Cnga1
|
UTSW |
5 |
72,762,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R3779:Cnga1
|
UTSW |
5 |
72,762,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R4357:Cnga1
|
UTSW |
5 |
72,775,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R4399:Cnga1
|
UTSW |
5 |
72,761,724 (GRCm39) |
missense |
probably damaging |
0.98 |
R4615:Cnga1
|
UTSW |
5 |
72,762,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R4946:Cnga1
|
UTSW |
5 |
72,762,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R5229:Cnga1
|
UTSW |
5 |
72,766,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R5474:Cnga1
|
UTSW |
5 |
72,762,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R5566:Cnga1
|
UTSW |
5 |
72,775,593 (GRCm39) |
missense |
probably damaging |
0.98 |
R5754:Cnga1
|
UTSW |
5 |
72,762,615 (GRCm39) |
missense |
probably benign |
0.00 |
R5899:Cnga1
|
UTSW |
5 |
72,776,404 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5906:Cnga1
|
UTSW |
5 |
72,768,201 (GRCm39) |
missense |
probably benign |
0.19 |
R5954:Cnga1
|
UTSW |
5 |
72,762,221 (GRCm39) |
missense |
probably damaging |
0.99 |
R5997:Cnga1
|
UTSW |
5 |
72,761,918 (GRCm39) |
missense |
probably damaging |
0.98 |
R6087:Cnga1
|
UTSW |
5 |
72,768,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6365:Cnga1
|
UTSW |
5 |
72,762,288 (GRCm39) |
missense |
probably benign |
0.00 |
R6391:Cnga1
|
UTSW |
5 |
72,769,702 (GRCm39) |
critical splice donor site |
probably null |
|
R6525:Cnga1
|
UTSW |
5 |
72,775,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R7046:Cnga1
|
UTSW |
5 |
72,786,696 (GRCm39) |
intron |
probably benign |
|
R7229:Cnga1
|
UTSW |
5 |
72,775,592 (GRCm39) |
missense |
probably benign |
|
R7299:Cnga1
|
UTSW |
5 |
72,762,775 (GRCm39) |
missense |
probably benign |
0.20 |
R7367:Cnga1
|
UTSW |
5 |
72,762,701 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7425:Cnga1
|
UTSW |
5 |
72,766,868 (GRCm39) |
missense |
probably benign |
0.12 |
R7449:Cnga1
|
UTSW |
5 |
72,762,647 (GRCm39) |
missense |
probably benign |
0.29 |
R7538:Cnga1
|
UTSW |
5 |
72,769,723 (GRCm39) |
missense |
probably benign |
0.24 |
R7808:Cnga1
|
UTSW |
5 |
72,761,616 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7922:Cnga1
|
UTSW |
5 |
72,762,225 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7938:Cnga1
|
UTSW |
5 |
72,761,597 (GRCm39) |
missense |
probably benign |
0.27 |
R7994:Cnga1
|
UTSW |
5 |
72,762,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R8249:Cnga1
|
UTSW |
5 |
72,762,737 (GRCm39) |
missense |
probably benign |
0.02 |
R8690:Cnga1
|
UTSW |
5 |
72,761,835 (GRCm39) |
missense |
probably benign |
0.15 |
R9689:Cnga1
|
UTSW |
5 |
72,762,170 (GRCm39) |
missense |
probably benign |
0.10 |
X0062:Cnga1
|
UTSW |
5 |
72,761,828 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cnga1
|
UTSW |
5 |
72,762,873 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Posted On |
2015-04-16 |