Incidental Mutation 'R5754:Cnga1'
ID |
444944 |
Institutional Source |
Beutler Lab
|
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 # |
R5754 (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 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
98% (61/62) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
A |
5: 8,984,320 (GRCm39) |
N683K |
probably benign |
Het |
Atad2b |
T |
A |
12: 5,060,351 (GRCm39) |
H915Q |
probably benign |
Het |
Bltp2 |
T |
C |
11: 78,160,367 (GRCm39) |
S609P |
probably damaging |
Het |
Camk1d |
G |
T |
2: 5,449,908 (GRCm39) |
P91Q |
probably benign |
Het |
Camk1d |
G |
C |
2: 5,449,910 (GRCm39) |
S90R |
probably damaging |
Het |
Card11 |
T |
C |
5: 140,885,524 (GRCm39) |
E345G |
probably damaging |
Het |
Ccpg1 |
G |
T |
9: 72,920,526 (GRCm39) |
V714L |
possibly damaging |
Het |
Chst9 |
T |
C |
18: 15,586,254 (GRCm39) |
E103G |
possibly damaging |
Het |
Crb1 |
T |
C |
1: 139,159,337 (GRCm39) |
Y1295C |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,402,014 (GRCm39) |
T3392A |
probably benign |
Het |
Elp3 |
C |
A |
14: 65,785,439 (GRCm39) |
R473L |
probably damaging |
Het |
Epgn |
T |
A |
5: 91,181,807 (GRCm39) |
I145N |
probably benign |
Het |
Fam107b |
G |
A |
2: 3,779,457 (GRCm39) |
G220D |
probably damaging |
Het |
Fbn2 |
A |
G |
18: 58,257,383 (GRCm39) |
V328A |
probably benign |
Het |
Fn1 |
A |
T |
1: 71,639,481 (GRCm39) |
I1770N |
probably damaging |
Het |
Fndc1 |
T |
A |
17: 7,988,585 (GRCm39) |
Y1159F |
unknown |
Het |
Frem2 |
A |
G |
3: 53,444,679 (GRCm39) |
L2484P |
probably damaging |
Het |
Grk2 |
C |
T |
19: 4,340,496 (GRCm39) |
R295H |
probably damaging |
Het |
Gtf3c1 |
A |
T |
7: 125,243,237 (GRCm39) |
V1789D |
possibly damaging |
Het |
Hmgcl |
T |
C |
4: 135,677,898 (GRCm39) |
V33A |
probably damaging |
Het |
Ighv7-1 |
A |
G |
12: 113,860,239 (GRCm39) |
F51S |
probably damaging |
Het |
Kcna6 |
A |
G |
6: 126,716,688 (GRCm39) |
L67P |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,123,030 (GRCm39) |
V720E |
probably benign |
Het |
Lrch1 |
T |
C |
14: 75,054,558 (GRCm39) |
D312G |
probably damaging |
Het |
Mix23 |
A |
G |
16: 35,905,427 (GRCm39) |
N63S |
probably benign |
Het |
Nav2 |
A |
G |
7: 49,206,794 (GRCm39) |
T1540A |
probably damaging |
Het |
Nisch |
A |
T |
14: 30,913,373 (GRCm39) |
|
probably benign |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Npc1l1 |
A |
G |
11: 6,177,839 (GRCm39) |
Y524H |
probably damaging |
Het |
Nrap |
T |
C |
19: 56,377,916 (GRCm39) |
T25A |
possibly damaging |
Het |
Nusap1 |
A |
G |
2: 119,477,580 (GRCm39) |
K363R |
probably damaging |
Het |
Or5ar1 |
T |
C |
2: 85,671,656 (GRCm39) |
T160A |
probably damaging |
Het |
Or5b124 |
A |
G |
19: 13,611,357 (GRCm39) |
E294G |
probably damaging |
Het |
Or7e177 |
T |
A |
9: 20,212,390 (GRCm39) |
L298Q |
probably damaging |
Het |
Pde4d |
T |
C |
13: 110,074,547 (GRCm39) |
I384T |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,593,875 (GRCm39) |
R1413* |
probably null |
Het |
Plcd3 |
T |
A |
11: 102,964,592 (GRCm39) |
Y593F |
possibly damaging |
Het |
Plxna1 |
A |
T |
6: 89,310,087 (GRCm39) |
I1026N |
possibly damaging |
Het |
Podxl |
T |
A |
6: 31,501,329 (GRCm39) |
I409F |
probably damaging |
Het |
Polq |
A |
C |
16: 36,837,625 (GRCm39) |
Q179P |
probably benign |
Het |
Pomt1 |
T |
C |
2: 32,137,602 (GRCm39) |
V401A |
probably damaging |
Het |
Qdpr |
C |
T |
5: 45,596,727 (GRCm39) |
G146S |
probably damaging |
Het |
Shc4 |
T |
A |
2: 125,512,218 (GRCm39) |
Q2L |
probably damaging |
Het |
Skint8 |
T |
A |
4: 111,807,387 (GRCm39) |
C358S |
probably benign |
Het |
Smc5 |
T |
C |
19: 23,221,467 (GRCm39) |
E354G |
possibly damaging |
Het |
Snx30 |
T |
C |
4: 59,868,275 (GRCm39) |
V129A |
probably damaging |
Het |
Sp110 |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
Spag6 |
T |
A |
2: 18,703,613 (GRCm39) |
|
probably benign |
Het |
Trim28 |
T |
A |
7: 12,763,036 (GRCm39) |
Y450N |
probably benign |
Het |
Trip11 |
C |
T |
12: 101,851,924 (GRCm39) |
W428* |
probably null |
Het |
Umodl1 |
T |
A |
17: 31,213,761 (GRCm39) |
V966E |
probably damaging |
Het |
Utf1 |
A |
G |
7: 139,524,704 (GRCm39) |
|
probably benign |
Het |
Vmn1r72 |
T |
C |
7: 11,403,776 (GRCm39) |
Y224C |
probably damaging |
Het |
Whrn |
A |
G |
4: 63,334,825 (GRCm39) |
S748P |
probably damaging |
Het |
Zbtb41 |
T |
A |
1: 139,359,816 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
T |
C |
8: 109,526,964 (GRCm39) |
F954L |
probably damaging |
Het |
Zfp456 |
A |
T |
13: 67,514,359 (GRCm39) |
I449K |
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 |
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 |
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'- TGGTGGCGAAAATTAAAACTCC -3'
(R):5'- CAGTGATACCGACCGATCTG -3'
Sequencing Primer
(F):5'- TGTACTCAGAATCCAGCACGGG -3'
(R):5'- GACCGATCTGCTGTACATCAAGTTTG -3'
|
Posted On |
2016-11-21 |