Incidental Mutation 'R2097:Cnga1'
| ID |
230308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnga1
|
| Ensembl Gene |
ENSMUSG00000067220 |
| Gene Name |
cyclic nucleotide gated channel alpha 1 |
| Synonyms |
Cncg |
| MMRRC Submission |
040101-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.310)
|
| Stock # |
R2097 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
72761039-72800095 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72776404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 20
(V20I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087213]
[ENSMUST00000126799]
[ENSMUST00000135701]
[ENSMUST00000169997]
[ENSMUST00000201463]
|
| AlphaFold |
P29974 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087213
AA Change: V20I
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000084464
Gene: ENSMUSG00000067220
AA Change: V20I
| 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 |
possibly damaging
Transcript: ENSMUST00000126799
AA Change: V20I
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135701
AA Change: V20I
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169997
AA Change: V20I
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000132329
Gene: ENSMUSG00000067220
AA Change: V20I
| 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: V20I
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000143881
Gene: ENSMUSG00000067220
AA Change: V20I
| 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 |
0.1008 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,709,185 (GRCm39) |
V263A |
probably damaging |
Het |
| Apol6 |
T |
A |
15: 76,931,333 (GRCm39) |
|
probably null |
Het |
| Aqp3 |
C |
T |
4: 41,098,004 (GRCm39) |
V36M |
possibly damaging |
Het |
| Bace1 |
G |
T |
9: 45,771,520 (GRCm39) |
C478F |
probably benign |
Het |
| Bbof1 |
C |
A |
12: 84,460,081 (GRCm39) |
A116D |
probably damaging |
Het |
| Casq1 |
A |
T |
1: 172,037,988 (GRCm39) |
L381Q |
probably damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,397,759 (GRCm39) |
L533* |
probably null |
Het |
| Cdcp3 |
A |
T |
7: 130,783,693 (GRCm39) |
R29* |
probably null |
Het |
| Cntn6 |
A |
G |
6: 104,838,910 (GRCm39) |
E988G |
probably damaging |
Het |
| Cts6 |
T |
A |
13: 61,343,259 (GRCm39) |
N321Y |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,821,084 (GRCm39) |
S1269P |
probably benign |
Het |
| Dsg4 |
C |
A |
18: 20,604,101 (GRCm39) |
P856H |
probably damaging |
Het |
| Fndc3a |
C |
A |
14: 72,811,791 (GRCm39) |
|
probably null |
Het |
| Galc |
T |
C |
12: 98,218,291 (GRCm39) |
D187G |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,357,079 (GRCm39) |
I384T |
probably damaging |
Het |
| Hacd2 |
A |
G |
16: 34,869,090 (GRCm39) |
I92V |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,270,431 (GRCm39) |
Y1223N |
probably damaging |
Het |
| Il20ra |
T |
C |
10: 19,635,211 (GRCm39) |
I484T |
probably damaging |
Het |
| Map7 |
G |
T |
10: 20,122,362 (GRCm39) |
V143F |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,348,323 (GRCm39) |
L1893P |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,292,844 (GRCm39) |
N533S |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,630,638 (GRCm39) |
D2233G |
probably damaging |
Het |
| Nlrp6 |
A |
T |
7: 140,503,117 (GRCm39) |
T408S |
probably damaging |
Het |
| Notch3 |
A |
T |
17: 32,341,728 (GRCm39) |
L2008Q |
probably damaging |
Het |
| Odad4 |
T |
A |
11: 100,454,408 (GRCm39) |
F398I |
possibly damaging |
Het |
| Or52e19b |
T |
A |
7: 103,032,840 (GRCm39) |
D123V |
probably damaging |
Het |
| Or8k20 |
A |
T |
2: 86,106,383 (GRCm39) |
Y149* |
probably null |
Het |
| Pggt1b |
T |
C |
18: 46,379,695 (GRCm39) |
N296D |
probably benign |
Het |
| Pglyrp3 |
T |
A |
3: 91,935,478 (GRCm39) |
F243I |
possibly damaging |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptpdc1 |
T |
A |
13: 48,746,135 (GRCm39) |
|
probably null |
Het |
| Ptprq |
T |
C |
10: 107,489,354 (GRCm39) |
T924A |
probably benign |
Het |
| Pwp2 |
C |
A |
10: 78,013,576 (GRCm39) |
|
probably benign |
Het |
| Slc7a4 |
G |
T |
16: 17,391,319 (GRCm39) |
|
probably null |
Het |
| Tmem132b |
T |
A |
5: 125,715,272 (GRCm39) |
I327K |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,393,933 (GRCm39) |
M4V |
probably damaging |
Het |
| Tspan13 |
T |
C |
12: 36,071,829 (GRCm39) |
S128G |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,429,882 (GRCm39) |
D131G |
probably null |
Het |
| Zeb2 |
A |
T |
2: 44,887,168 (GRCm39) |
C615S |
probably damaging |
Het |
| Zfp777 |
C |
T |
6: 48,021,176 (GRCm39) |
D149N |
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,263,892 (GRCm39) |
K297E |
possibly 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 |
|
IGL02345:Cnga1
|
APN |
5 |
72,762,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGATGAACAAGTTATACTGTCCC -3'
(R):5'- ACCACAGCTGGCATACTTCG -3'
Sequencing Primer
(F):5'- GTCCCAGAGTATAAATAAATTCAC -3'
(R):5'- GCATACTTCGCCTCCTCAGTAGAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation