Incidental Mutation 'IGL02345:Cnga1'
| ID |
289239 |
| 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: 0.253)
|
| Stock # |
IGL02345
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
72761039-72800095 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72762615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 300
(V300I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087213]
[ENSMUST00000169997]
[ENSMUST00000201463]
|
| AlphaFold |
P29974 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087213
AA Change: V300I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000084464
Gene: ENSMUSG00000067220
AA Change: V300I
| 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 benign
Transcript: ENSMUST00000169997
AA Change: V300I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132329
Gene: ENSMUSG00000067220
AA Change: V300I
| 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 benign
Transcript: ENSMUST00000201463
AA Change: V300I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143881
Gene: ENSMUSG00000067220
AA Change: V300I
| 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 |
|
| Meta Mutation Damage Score |
0.1786 |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
G |
T |
16: 14,214,215 (GRCm39) |
D177Y |
possibly damaging |
Het |
| Casc3 |
T |
C |
11: 98,718,390 (GRCm39) |
|
probably benign |
Het |
| Catspere2 |
G |
A |
1: 177,842,754 (GRCm39) |
V60I |
possibly damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,668,495 (GRCm39) |
D41G |
probably damaging |
Het |
| Dnm1l |
T |
C |
16: 16,147,758 (GRCm39) |
S181G |
possibly damaging |
Het |
| Dyrk1a |
T |
G |
16: 94,472,221 (GRCm39) |
S242A |
possibly damaging |
Het |
| Fcgbp |
T |
A |
7: 27,771,068 (GRCm39) |
|
probably benign |
Het |
| Fibcd1 |
T |
C |
2: 31,706,604 (GRCm39) |
Y409C |
probably damaging |
Het |
| Fig4 |
A |
T |
10: 41,143,770 (GRCm39) |
W230R |
probably null |
Het |
| Flt1 |
T |
C |
5: 147,519,436 (GRCm39) |
S960G |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,649,143 (GRCm39) |
S390G |
possibly damaging |
Het |
| Gbx2 |
T |
C |
1: 89,856,698 (GRCm39) |
T231A |
probably benign |
Het |
| Gm5852 |
T |
A |
3: 93,635,055 (GRCm39) |
|
noncoding transcript |
Het |
| Lmo7 |
T |
C |
14: 102,124,909 (GRCm39) |
V456A |
probably damaging |
Het |
| Mark3 |
A |
G |
12: 111,593,541 (GRCm39) |
N191S |
probably damaging |
Het |
| Or7h8 |
C |
A |
9: 20,124,314 (GRCm39) |
S223Y |
possibly damaging |
Het |
| Pik3c2a |
C |
T |
7: 116,005,126 (GRCm39) |
E381K |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,383,552 (GRCm39) |
D457G |
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,311,919 (GRCm39) |
S404P |
probably damaging |
Het |
| Prr16 |
T |
C |
18: 51,436,301 (GRCm39) |
F260S |
probably damaging |
Het |
| Psd4 |
T |
C |
2: 24,291,835 (GRCm39) |
|
probably null |
Het |
| Ptgs1 |
A |
G |
2: 36,132,983 (GRCm39) |
D327G |
probably null |
Het |
| Rgsl1 |
C |
T |
1: 153,679,755 (GRCm39) |
|
probably null |
Het |
| Spart |
T |
A |
3: 55,025,147 (GRCm39) |
|
probably null |
Het |
| Sugp1 |
A |
G |
8: 70,495,734 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
A |
T |
8: 12,675,056 (GRCm39) |
I713N |
probably damaging |
Het |
| Usp19 |
A |
G |
9: 108,371,057 (GRCm39) |
T240A |
probably benign |
Het |
| Vash2 |
A |
G |
1: 190,710,412 (GRCm39) |
V81A |
probably benign |
Het |
| Vmn2r41 |
T |
G |
7: 8,141,767 (GRCm39) |
N566H |
probably damaging |
Het |
| Wdr31 |
A |
G |
4: 62,377,083 (GRCm39) |
I42T |
possibly damaging |
Het |
| Zfp292 |
C |
T |
4: 34,809,244 (GRCm39) |
V1272I |
possibly damaging |
Het |
| Zfp638 |
C |
T |
6: 83,961,857 (GRCm39) |
R1899C |
probably damaging |
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 |
|
IGL02354:Cnga1
|
APN |
5 |
72,774,061 (GRCm39) |
splice site |
probably null |
|
|
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 |
Incidental Mutation