Incidental Mutation 'R2096:Cnga1'
| ID |
232097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnga1
|
| Ensembl Gene |
ENSMUSG00000067220 |
| Gene Name |
cyclic nucleotide gated channel alpha 1 |
| Synonyms |
Cncg |
| MMRRC Submission |
040100-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R2096 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 97.4%
- 20x: 95.3%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
A |
G |
8: 124,709,195 (GRCm39) |
S120P |
probably benign |
Het |
| Actr3b |
T |
A |
5: 26,036,743 (GRCm39) |
Y185* |
probably null |
Het |
| Atg101 |
T |
A |
15: 101,188,382 (GRCm39) |
H162Q |
possibly damaging |
Het |
| Btf3 |
T |
A |
13: 98,449,659 (GRCm39) |
Q109L |
possibly damaging |
Het |
| Camk2d |
G |
A |
3: 126,574,091 (GRCm39) |
G166D |
probably damaging |
Het |
| Capn7 |
T |
G |
14: 31,071,844 (GRCm39) |
|
probably null |
Het |
| Cd209f |
A |
G |
8: 4,155,537 (GRCm39) |
V17A |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,385,656 (GRCm39) |
V2208A |
possibly damaging |
Het |
| Comp |
T |
C |
8: 70,828,713 (GRCm39) |
C182R |
probably damaging |
Het |
| Ctsl |
A |
G |
13: 64,516,840 (GRCm39) |
|
probably null |
Het |
| Cyp3a44 |
G |
T |
5: 145,725,215 (GRCm39) |
Q329K |
probably damaging |
Het |
| Dcpp1 |
A |
T |
17: 24,099,971 (GRCm39) |
|
probably null |
Het |
| Dhx38 |
A |
G |
8: 110,280,891 (GRCm39) |
V831A |
probably damaging |
Het |
| Dkk2 |
T |
C |
3: 131,791,858 (GRCm39) |
M22T |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,346,742 (GRCm39) |
E2615K |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,426,713 (GRCm39) |
|
probably null |
Het |
| Gm12888 |
T |
G |
4: 121,176,655 (GRCm39) |
I49L |
probably benign |
Het |
| Insyn2b |
C |
A |
11: 34,352,936 (GRCm39) |
S326Y |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,815,252 (GRCm39) |
M194K |
probably damaging |
Het |
| Mael |
G |
T |
1: 166,053,244 (GRCm39) |
Q254K |
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,361,322 (GRCm39) |
D461G |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,281,825 (GRCm39) |
N819S |
probably benign |
Het |
| Ntng1 |
T |
A |
3: 109,739,871 (GRCm39) |
N390Y |
probably damaging |
Het |
| Or5g25 |
A |
G |
2: 85,478,434 (GRCm39) |
I77T |
probably benign |
Het |
| P2ry14 |
C |
T |
3: 59,022,738 (GRCm39) |
V250I |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,485,987 (GRCm39) |
D1870E |
probably benign |
Het |
| Phf2 |
T |
A |
13: 48,985,589 (GRCm39) |
K64* |
probably null |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Ppa2 |
A |
G |
3: 133,032,445 (GRCm39) |
T97A |
probably damaging |
Het |
| Psd |
G |
A |
19: 46,313,088 (GRCm39) |
|
probably null |
Het |
| Psg23 |
T |
A |
7: 18,348,668 (GRCm39) |
E46D |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rab11b |
A |
G |
17: 33,967,976 (GRCm39) |
Y74H |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,568,383 (GRCm39) |
S194R |
probably benign |
Het |
| Sema4d |
A |
T |
13: 51,864,037 (GRCm39) |
I414N |
probably damaging |
Het |
| Serpinb1a |
A |
T |
13: 33,031,437 (GRCm39) |
D120E |
probably damaging |
Het |
| Snai2 |
T |
A |
16: 14,524,861 (GRCm39) |
H122Q |
possibly damaging |
Het |
| Spats2l |
T |
C |
1: 57,985,458 (GRCm39) |
S504P |
probably benign |
Het |
| Sprr2j-ps |
T |
C |
3: 92,326,412 (GRCm39) |
S96P |
unknown |
Het |
| Sspo |
G |
T |
6: 48,438,608 (GRCm39) |
V1559L |
probably benign |
Het |
| Tas2r118 |
T |
G |
6: 23,969,912 (GRCm39) |
I50L |
possibly damaging |
Het |
| Tdrd3 |
C |
T |
14: 87,743,788 (GRCm39) |
Q573* |
probably null |
Het |
| Thoc2l |
T |
C |
5: 104,667,835 (GRCm39) |
S786P |
possibly damaging |
Het |
| Tlnrd1 |
G |
A |
7: 83,532,062 (GRCm39) |
T123I |
probably benign |
Het |
| Tmem214 |
T |
A |
5: 31,033,714 (GRCm39) |
L555H |
probably damaging |
Het |
| Tmprss12 |
T |
A |
15: 100,183,117 (GRCm39) |
M153K |
probably benign |
Het |
| Tmprss9 |
G |
A |
10: 80,725,268 (GRCm39) |
G410S |
probably damaging |
Het |
| Trpm6 |
T |
A |
19: 18,803,116 (GRCm39) |
M853K |
probably damaging |
Het |
| Vmn1r35 |
A |
G |
6: 66,655,929 (GRCm39) |
I247T |
possibly damaging |
Het |
| Zcchc7 |
C |
A |
4: 44,931,059 (GRCm39) |
P404T |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,763,465 (GRCm39) |
F1371L |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATGAACAAGTTATACTGTCCCAG -3'
(R):5'- ACCACAGCTGGCATACTTC -3'
Sequencing Primer
(F):5'- GTCCCAGAGTATAAATAAATTCACTA -3'
(R):5'- GCATACTTCGCCTCCTCAGTAGAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation