Incidental Mutation 'R3005:Cnga1'
| ID | 257411 |
|---|
| Institutional Source |
Beutler Lab
|
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| Gene Symbol |
Cnga1
|
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| Ensembl Gene |
ENSMUSG00000067220 |
|---|
| Gene Name | cyclic nucleotide gated channel alpha 1 |
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| Synonyms | Cncg |
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| Accession Numbers | |
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| Is this an essential gene? |
Probably non essential (E-score: 0.240)
|
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| Stock # | R3005 (G1)
|
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| Quality Score | 225 |
|---|
| Status |
Not validated
|
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| Chromosome | 5 |
|---|
| Chromosomal Location | 72603696-72644275 bp(-) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
T to A
at 72605107 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Isoleucine to Phenylalanine
at position 355
(I355F)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000143881
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087213]
[ENSMUST00000169997]
[ENSMUST00000201463]
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087213
AA Change: I355F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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| SMART Domains |
Protein: ENSMUSP00000084464
Gene: ENSMUSG00000067220
AA Change: I355F
| 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 |
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169997
AA Change: I355F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000132329
Gene: ENSMUSG00000067220
AA Change: I355F
| 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 damaging
Transcript: ENSMUST00000201463
AA Change: I355F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000143881
Gene: ENSMUSG00000067220
AA Change: I355F
| 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 |
|
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| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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| Validation Efficiency |
|
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| 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]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610009O20Rik |
T |
A |
18: 38,259,959 |
N405K |
possibly damaging |
Het |
| 4931406P16Rik |
T |
C |
7: 34,284,784 |
E138G |
probably damaging |
Het |
| Cep162 |
C |
A |
9: 87,232,060 |
V320L |
probably benign |
Het |
| Csnk1e |
T |
C |
15: 79,438,805 |
I15V |
probably benign |
Het |
| Exosc8 |
T |
C |
3: 54,732,147 |
|
probably null |
Het |
| Gstm3 |
G |
T |
3: 107,967,607 |
Q110K |
probably benign |
Het |
| Hace1 |
G |
A |
10: 45,648,863 |
G242R |
probably damaging |
Het |
| Lcn6 |
T |
A |
2: 25,677,249 |
|
probably null |
Het |
| Msh6 |
A |
G |
17: 87,988,285 |
E1088G |
probably benign |
Het |
| Nlrp4c |
G |
A |
7: 6,065,525 |
V142M |
probably benign |
Het |
| Nup50 |
G |
A |
15: 84,929,460 |
|
probably null |
Het |
| Olfr577 |
C |
T |
7: 102,973,258 |
V245I |
possibly damaging |
Het |
| Ppp2r5a |
A |
T |
1: 191,358,976 |
F218Y |
probably damaging |
Het |
| Ptov1 |
T |
C |
7: 44,864,462 |
N52S |
probably damaging |
Het |
| Rif1 |
G |
A |
2: 52,082,764 |
A303T |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,441,764 |
V778E |
probably damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,594,044 |
L258H |
probably damaging |
Het |
| Utp20 |
C |
A |
10: 88,777,455 |
K1321N |
probably damaging |
Het |
| Vmn2r54 |
T |
A |
7: 12,615,294 |
Q787L |
probably benign |
Het |
|
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| Other mutations in Cnga1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02332:Cnga1
|
APN |
5 |
72604486 |
missense |
probably damaging |
1.00 |
|
IGL02345:Cnga1
|
APN |
5 |
72605272 |
missense |
probably benign |
0.00 |
|
IGL02354:Cnga1
|
APN |
5 |
72616718 |
splice site |
probably null |
|
|
IGL02361:Cnga1
|
APN |
5 |
72616718 |
splice site |
probably null |
|
|
IGL03025:Cnga1
|
APN |
5 |
72605413 |
missense |
probably benign |
|
|
IGL03257:Cnga1
|
APN |
5 |
72610862 |
missense |
probably damaging |
1.00 |
|
tintoretto
|
UTSW |
5 |
72609500 |
missense |
probably damaging |
1.00 |
|
IGL03046:Cnga1
|
UTSW |
5 |
72604338 |
missense |
probably benign |
0.01 |
|
R0238:Cnga1
|
UTSW |
5 |
72605031 |
missense |
probably damaging |
0.97 |
|
R0238:Cnga1
|
UTSW |
5 |
72605031 |
missense |
probably damaging |
0.97 |
|
R0352:Cnga1
|
UTSW |
5 |
72604503 |
missense |
possibly damaging |
0.95 |
|
R1292:Cnga1
|
UTSW |
5 |
72604683 |
missense |
probably damaging |
1.00 |
|
R1386:Cnga1
|
UTSW |
5 |
72612183 |
nonsense |
probably null |
|
|
R1903:Cnga1
|
UTSW |
5 |
72616725 |
missense |
possibly damaging |
0.94 |
|
R2096:Cnga1
|
UTSW |
5 |
72619061 |
missense |
possibly damaging |
0.85 |
|
R2097:Cnga1
|
UTSW |
5 |
72619061 |
missense |
possibly damaging |
0.85 |
|
R2101:Cnga1
|
UTSW |
5 |
72619061 |
missense |
possibly damaging |
0.85 |
|
R2276:Cnga1
|
UTSW |
5 |
72619061 |
missense |
possibly damaging |
0.85 |
|
R2279:Cnga1
|
UTSW |
5 |
72619061 |
missense |
possibly damaging |
0.85 |
|
R2507:Cnga1
|
UTSW |
5 |
72619061 |
missense |
possibly damaging |
0.85 |
|
R2508:Cnga1
|
UTSW |
5 |
72619061 |
missense |
possibly damaging |
0.85 |
|
R3779:Cnga1
|
UTSW |
5 |
72604783 |
missense |
probably damaging |
1.00 |
|
R4357:Cnga1
|
UTSW |
5 |
72618252 |
missense |
probably damaging |
1.00 |
|
R4399:Cnga1
|
UTSW |
5 |
72604381 |
missense |
probably damaging |
0.98 |
|
R4615:Cnga1
|
UTSW |
5 |
72604774 |
missense |
probably damaging |
1.00 |
|
R4946:Cnga1
|
UTSW |
5 |
72604764 |
missense |
probably damaging |
1.00 |
|
R5229:Cnga1
|
UTSW |
5 |
72609500 |
missense |
probably damaging |
1.00 |
|
R5474:Cnga1
|
UTSW |
5 |
72605193 |
missense |
probably damaging |
1.00 |
|
R5566:Cnga1
|
UTSW |
5 |
72618250 |
missense |
probably damaging |
0.98 |
|
R5754:Cnga1
|
UTSW |
5 |
72605272 |
missense |
probably benign |
0.00 |
|
R5899:Cnga1
|
UTSW |
5 |
72619061 |
missense |
possibly damaging |
0.85 |
|
R5906:Cnga1
|
UTSW |
5 |
72610858 |
missense |
probably benign |
0.19 |
|
R5954:Cnga1
|
UTSW |
5 |
72604878 |
missense |
probably damaging |
0.99 |
|
R5997:Cnga1
|
UTSW |
5 |
72604575 |
missense |
probably damaging |
0.98 |
|
R6087:Cnga1
|
UTSW |
5 |
72610812 |
missense |
probably damaging |
1.00 |
|
R6365:Cnga1
|
UTSW |
5 |
72604945 |
missense |
probably benign |
0.00 |
|
R6391:Cnga1
|
UTSW |
5 |
72612359 |
critical splice donor site |
probably null |
|
|
R6525:Cnga1
|
UTSW |
5 |
72618231 |
missense |
probably damaging |
1.00 |
|
R7046:Cnga1
|
UTSW |
5 |
72629353 |
intron |
probably benign |
|
|
R7229:Cnga1
|
UTSW |
5 |
72618249 |
missense |
probably benign |
|
|
R7299:Cnga1
|
UTSW |
5 |
72605432 |
missense |
probably benign |
0.20 |
|
R7367:Cnga1
|
UTSW |
5 |
72605358 |
missense |
possibly damaging |
0.75 |
|
R7425:Cnga1
|
UTSW |
5 |
72609525 |
missense |
probably benign |
0.12 |
|
R7449:Cnga1
|
UTSW |
5 |
72605304 |
missense |
probably benign |
0.29 |
|
R7538:Cnga1
|
UTSW |
5 |
72612380 |
missense |
probably benign |
0.24 |
|
R7808:Cnga1
|
UTSW |
5 |
72604273 |
missense |
possibly damaging |
0.69 |
|
R7922:Cnga1
|
UTSW |
5 |
72604882 |
missense |
possibly damaging |
0.81 |
|
R7938:Cnga1
|
UTSW |
5 |
72604254 |
missense |
probably benign |
0.27 |
|
R7994:Cnga1
|
UTSW |
5 |
72604660 |
missense |
probably damaging |
1.00 |
|
R8249:Cnga1
|
UTSW |
5 |
72605394 |
missense |
probably benign |
0.02 |
|
X0062:Cnga1
|
UTSW |
5 |
72604485 |
missense |
probably damaging |
1.00 |
|
Z1177:Cnga1
|
UTSW |
5 |
72605530 |
critical splice acceptor site |
probably null |
|
|
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| Predicted Primers |
PCR Primer
(F):5'- TGGTCCACAGGTAGTCAAAC -3'
(R):5'- TCGTCATCATCATCCACTGG -3'
Sequencing Primer
(F):5'- GGTAGTCAAACCATTTAATAACCCTC -3'
(R):5'- ATCCACTGGAACGCTTGTG -3'
|
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| Posted On | 2015-01-11 |
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